An Online Resource of Digital Stories About Cancer Genetics: Qualitative Study of Patient Preferences and Information Needs

PubMed Central

Mundy, Lisa; Hilgart, Jennifer

2011-01-01

Background The Cancer Genetics Service for Wales (CGSW) was established in 1998 as an all-Wales service for individuals with concerns about their family history of cancer. CGSW offers a range of services such as risk assessment, genetic counseling, and genetic testing. Individuals referred to cancer genetics services often have unmet information and support needs, and they value access to practical and experiential information from other patients and health professionals. As a result of the lifelong nature of genetic conditions, a fundamental challenge is to meet the ongoing needs of these patients by providing easily accessible and reliable information. Objectives Our aims were to explore how the long-term information and support needs of CGSW patients could be met and to assess whether an online bank of digital stories about cancer genetics would be acceptable to patients. Methods In 2009, CGSW organized patient panels across Wales. During these events, 169 patients were asked for their feedback about a potential online resource of digital stories from CGSW patients and staff. A total of 75 patients registered to take part in the project and 23 people from across Wales agreed to share their story. All participants took part in a follow-up interview. Results Patient preferences for an online collection of cancer genetics stories were collected at the patient panels. Key topics to be covered by the stories were identified, and this feedback informed the development of the website to ensure that patients’ needs would be met. The 23 patient storytellers were aged between 28 and 75 years, and 19 were female. The digital stories reflect patients’ experiences within CGSW and the implications of living with or at risk of cancer. Follow-up interviews with patient storytellers showed that they shared their experiences as a means of helping other patients and to increase understanding of the cancer genetics service. Digital stories were also collected from 12 members of staff working at CGSW. The digital stories provide reliable and easily accessible information about cancer genetics and are hosted on the StoryBank website (www.cancergeneticsstorybank.co.uk). Conclusions The Internet is one mechanism through which the long-term information and support needs of cancer genetics patients can be met. The StoryBank is one of the first places where patient and staff stories have been allied to every aspect of a patient pathway through a service and provides patients with an experiential perspective of the cancer genetics “journey.” The StoryBank was developed in direct response to patient feedback and is an innovative example of patient involvement in service development. The stories are a useful resource for newly referred patients, current patients, the general public, and health care professionals. PMID:22057223

MetaPhinder—Identifying Bacteriophage Sequences in Metagenomic Data Sets

PubMed Central

Villarroel, Julia; Lund, Ole; Voldby Larsen, Mette; Nielsen, Morten

2016-01-01

Bacteriophages are the most abundant biological entity on the planet, but at the same time do not account for much of the genetic material isolated from most environments due to their small genome sizes. They also show great genetic diversity and mosaic genomes making it challenging to analyze and understand them. Here we present MetaPhinder, a method to identify assembled genomic fragments (i.e.contigs) of phage origin in metagenomic data sets. The method is based on a comparison to a database of whole genome bacteriophage sequences, integrating hits to multiple genomes to accomodate for the mosaic genome structure of many bacteriophages. The method is demonstrated to out-perform both BLAST methods based on single hits and methods based on k-mer comparisons. MetaPhinder is available as a web service at the Center for Genomic Epidemiology https://cge.cbs.dtu.dk/services/MetaPhinder/, while the source code can be downloaded from https://bitbucket.org/genomicepidemiology/metaphinder or https://github.com/vanessajurtz/MetaPhinder. PMID:27684958

MetaPhinder-Identifying Bacteriophage Sequences in Metagenomic Data Sets.

PubMed

Jurtz, Vanessa Isabell; Villarroel, Julia; Lund, Ole; Voldby Larsen, Mette; Nielsen, Morten

Bacteriophages are the most abundant biological entity on the planet, but at the same time do not account for much of the genetic material isolated from most environments due to their small genome sizes. They also show great genetic diversity and mosaic genomes making it challenging to analyze and understand them. Here we present MetaPhinder, a method to identify assembled genomic fragments (i.e.contigs) of phage origin in metagenomic data sets. The method is based on a comparison to a database of whole genome bacteriophage sequences, integrating hits to multiple genomes to accomodate for the mosaic genome structure of many bacteriophages. The method is demonstrated to out-perform both BLAST methods based on single hits and methods based on k-mer comparisons. MetaPhinder is available as a web service at the Center for Genomic Epidemiology https://cge.cbs.dtu.dk/services/MetaPhinder/, while the source code can be downloaded from https://bitbucket.org/genomicepidemiology/metaphinder or https://github.com/vanessajurtz/MetaPhinder.

Provision of genetics services on Guam.

PubMed

McWalter, Kirsty; Hasegawa, Lianne; Au, Sylvia Mann

2013-12-01

Guam's geographic isolation and lack of community resources have resulted in unique healthcare needs. In 2006, the Western States Genetic Services Collaborative (WSGSC) conducted a genetics needs assessment and found that professional development is limited, families lack access to genetic services, and improved coverage of genetic testing is needed. With funding from the WSGSC, a Guam genetics outreach clinic was established and staffed by genetic counselors and a medical geneticist from Hawaii. Four clinics have been held to date. Although several challenges have been encountered, including minimal coverage of genetic testing by Guam insurance companies, limited referrals for families with private insurance, and inappropriate referral indications, the outreach clinic has been successful at increasing access to genetic services and improving professional development. With more collaborative work by staff from Guam, Hawaii, and the WSGSC, provision and reimbursement of genetic services and testing will continue to improve.

Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss

PubMed Central

2002-01-01

The advent of hearing screening in newborns in many states has led to an increase in the use of genetic testing and related genetic services in the follow-up of infants with hearing loss. A significant proportion of those with congenital hearing loss have genetic etiologies underlying their hearing loss. To ensure that those identified with congenital hearing loss receive the genetic services appropriate to their conditions, the Maternal and Child Health Bureau of the Health Resources and Services Administration funded the American College of Medical Genetics to convene an expert panel to develop guidelines for the genetic evaluation of congential hearing loss. After a brief overview of the current knowledge of hearing loss, newborn screening, and newborn hearing screening, we provide an overview of genetic services and a guideline that describes how best to ensure that patients receive appropriate genetic services. The significant contribution of genetic factors to these conditions combined with the rapid evolution of knowledge about the genetics of these conditions overlaid with the inherently multidisciplinary nature of genetic services provides an example of a condition for which a well-integrated multidisciplinary approach to care is clearly needed. PMID:12180152

A new three-dimensional manufacturing service composition method under various structures using improved Flower Pollination Algorithm

NASA Astrophysics Data System (ADS)

Zhang, Wenyu; Yang, Yushu; Zhang, Shuai; Yu, Dejian; Chen, Yong

2018-05-01

With the growing complexity of customer requirements and the increasing scale of manufacturing services, how to select and combine the single services to meet the complex demand of the customer has become a growing concern. This paper presents a new manufacturing service composition method to solve the multi-objective optimization problem based on quality of service (QoS). The proposed model not only presents different methods for calculating the transportation time and transportation cost under various structures but also solves the three-dimensional composition optimization problem, including service aggregation, service selection, and service scheduling simultaneously. Further, an improved Flower Pollination Algorithm (IFPA) is proposed to solve the three-dimensional composition optimization problem using a matrix-based representation scheme. The mutation operator and crossover operator of the Differential Evolution (DE) algorithm are also used to extend the basic Flower Pollination Algorithm (FPA) to improve its performance. Compared to Genetic Algorithm, DE, and basic FPA, the experimental results confirm that the proposed method demonstrates superior performance than other meta heuristic algorithms and can obtain better manufacturing service composition solutions.

Disability Experiences and Perspectives Regarding Reproductive Decisions, Parenting, and the Utility of Genetic Services: a Qualitative Study.

PubMed

Roadhouse, C; Shuman, C; Anstey, K; Sappleton, K; Chitayat, D; Ignagni, E

2018-06-16

Genetic counselors adopt seemingly contradictory roles: advocating for individuals with genetic conditions while offering prenatal diagnosis and the option of selective termination to prevent the birth of a child with a disability. This duality contributes to the tension between the disability and clinical genetics communities. Varying opinions exist amongst the disability community: some value genetic services while others are opposed. However, there is limited research exploring the opinions of individuals with a disability regarding issues related to reproduction and genetic services in the context of personal experience. This exploratory qualitative study involved interviews with seven women and three men who self-identify as having a disability. We sought to gain their perspectives on experiences with disability, thoughts about reproduction and parenting, and perceptions of genetic services. Transcripts of the interviews were analyzed thematically using qualitative content analysis. Data analysis showed that societal views of disability affected the lived experience and impacted reproductive decision-making for those with a disability. It also showed differing interest in genetic services. Concerns about the perceived collective implications of genetic services were also raised. These findings contribute to the understanding of the disability perspective toward reproductive decision-making and genetic services. A further goal is to promote a meaningful dialogue between the genetics and disability communities, with the potential to enhance the genetic and reproductive care provided to individuals with disabilities.

Unleashing the power of human genetic variation knowledge: New Zealand stakeholder perspectives.

PubMed

Gu, Yulong; Warren, James Roy; Day, Karen Jean

2011-01-01

This study aimed to characterize the challenges in using genetic information in health care and to identify opportunities for improvement. Taking a grounded theory approach, semistructured interviews were conducted with 48 participants to collect multiple stakeholder perspectives on genetic services in New Zealand. Three themes emerged from the data: (1) four service delivery models were identified in operation, including both those expected models involving genetic counselors and variations that do not route through the formal genetic service program; (2) multiple barriers to sharing and using genetic information were perceived, including technological, organizational, institutional, legal, ethical, and social issues; and (3) impediments to wider use of genetic testing technology, including variable understanding of genetic test utilities among clinicians and the limited capacity of clinical genetic services. Targeting these problems, information technologies and knowledge management tools have the potential to support key tasks in genetic services delivery, improve knowledge processes, and enhance knowledge networks. Because of the effect of issues in genetic information and knowledge management, the potential of human genetic variation knowledge to enhance health care delivery has been put on a "leash."

Provision of Genetic Services for Autism and Its Impact on Spanish Families

ERIC Educational Resources Information Center

Codina-Solà, Marta; Pérez-Jurado, Luis A.; Cuscó, Ivon; Serra-Juhé, Clara

2017-01-01

Although a genetic evaluation can identify the etiology in 15-30% of individuals with autism spectrum disorder, several studies show an underuse of genetic services by affected families. We have explored the access to genetic services and perception of genetics and recurrence risk in parents of autistic children in Spain. Despite the high interest…

Too Many Referrals of Low-risk Women for BRCA1/2 Genetic Services by Family Physicians

PubMed Central

White, Della Brown; Bonham, Vence L.; Jenkins, Jean; Stevens, Nancy; McBride, Colleen M.

2009-01-01

Increasing availability and public awareness of BRCA1/2 genetic testing will increase women’s self-referrals to genetic services. The objective of this study was to examine whether patient characteristics influence family physicians’ (FPs’) referral decisions when a patient requests BRCA1/2 genetic testing. FPs (n = 284) completed a web-based survey in 2006 to assess their attitudes and practices related to using genetics in their clinical practice. Using a 2×2×2 factorial design we tested the effects of a hypothetical patient’s race, level of worry and insurance status on FPs’ decisions to refer her for BRCA1/2 testing. The patient was not appropriate for referral based on USPSTF guidelines. No patient characteristics were associated with FPs’ referral decisions. Although referral was not indicated, only 8% did not refer to genetic services, 92% referred for genetic services, and 50% referred to genetic counseling. FPs regarded it unlikely that the patient carried a mutation. However, 65% of FPs believed if they refused to refer for genetic services it would harm their relationship with the patient. Despite scarce and costly genetic services FPs were likely to inappropriately refer a low-risk patient who requested BRCA1/2 testing. The implications of this inappropriate referral on women’s screening behavior, genetic services, and health care costs are unknown. Clinicians and patients could benefit from education about appropriate use of genetic services so that both are more comfortable with a decision against referral. PMID:18990739

The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe.

PubMed

Hastings, Ros; de Wert, Guido; Fowler, Brian; Krawczak, Michael; Vermeulen, Eric; Bakker, Egbert; Borry, Pascal; Dondorp, Wybo; Nijsingh, Niels; Barton, David; Schmidtke, Jörg; van El, Carla G; Vermeesch, Joris; Stol, Yrrah; Carmen Howard, Heidi; Cornel, Martina C

2012-09-01

The arrival of new genetic technologies that allow efficient examination of the whole human genome (microarray, next-generation sequencing) will impact upon both laboratories (cytogenetic and molecular genetics in the first instance) and clinical/medical genetic services. The interpretation of analytical results in terms of their clinical relevance and the predicted health status poses a challenge to both laboratory and clinical geneticists, due to the wealth and complexity of the information obtained. There is a need to discuss how to best restructure the genetic services logistically and to determine the clinical utility of genetic testing so that patients can receive appropriate advice and genetic testing. To weigh up the questions and challenges of the new genetic technologies, the European Society of Human Genetics (ESHG) held a series of workshops on 10 June 2010 in Gothenburg. This was part of an ESHG satellite symposium on the 'Changing landscape of genetic testing', co-organized by the ESHG Genetic Services Quality and Public and Professional Policy Committees. The audience consisted of a mix of geneticists, ethicists, social scientists and lawyers. In this paper, we summarize the discussions during the workshops and present some of the identified ways forward to improve and adapt the genetic services so that patients receive accurate and relevant information. This paper covers ethics, clinical utility, primary care, genetic services and the blurring boundaries between healthcare and research.

A Modified Decision Tree Algorithm Based on Genetic Algorithm for Mobile User Classification Problem

PubMed Central

Liu, Dong-sheng; Fan, Shu-jiang

2014-01-01

In order to offer mobile customers better service, we should classify the mobile user firstly. Aimed at the limitations of previous classification methods, this paper puts forward a modified decision tree algorithm for mobile user classification, which introduced genetic algorithm to optimize the results of the decision tree algorithm. We also take the context information as a classification attributes for the mobile user and we classify the context into public context and private context classes. Then we analyze the processes and operators of the algorithm. At last, we make an experiment on the mobile user with the algorithm, we can classify the mobile user into Basic service user, E-service user, Plus service user, and Total service user classes and we can also get some rules about the mobile user. Compared to C4.5 decision tree algorithm and SVM algorithm, the algorithm we proposed in this paper has higher accuracy and more simplicity. PMID:24688389

The U.S. Forest Service National Seed Laboratory and Fraxinus ex situ genetic conservation

Treesearch

Robert P. Karrfalt

2010-01-01

The U.S. Forest Service's National Seed Laboratory (NSL) has as part of its mission the conservation of genetic resources for the Forest Service and Forest Service cooperators through long-term seed storage. The Forest Service recognizes ash as one of four priority species for genetic conservation. The NSL is in charge of the Forest Service ash preservation plan...

[Quality of genetic services--analysis of medical genetic expert opinions solicited by private health insurance companies].

PubMed

Nippert, Reinhardt Peter; Schmidtke, Jörg

2012-01-01

Service quality for patients with genetic conditions can be assessed through the analysis of clinical genetic data sets, as was the case in this study. It represents a secondary analysis of a compilation of a single genetic expert's medical opinions covering the years 2000 to 2009, solicited by private health insurance companies with the intention of probing into medical necessity and adequacy of genetic testing ordered by physicians. Genetic testing has become an increasingly important part of clinical diagnostic services. Controlling these services does not only reduce costs but also saves patients from unwarranted over-utilisation. Therefore, the reasons given by doctors when ordering genetic tests are part of the quality of service delivery. The study revealed that more than 30% of the molecular genetic tests ordered lack sound medical reasoning and 30% of the cases studied show violation or neglect of guidelines and recommendations for diagnostic procedures with respect to genetic testing. In essence, the findings indicate a need for human genetic information among physicians. Their professional organisations are called upon to design and offer CME/CPD programmes in medical genetics to maintain and continually improve the quality of medical genetic care for patients with genetic conditions. Copyright © 2012. Published by Elsevier GmbH.

Identifying opportunities for collaboration and growth of genetic counseling services in the Asia Region.

PubMed

Laurino, Mercy Y; Sternen, Darci L; Thompson, Jennifer K; Leppig, Kathleen A

2017-07-01

The Genetic Counseling Pre-Conference Workshop (GCPCW) was held on September 16, 2015, in Hanoi, Vietnam. We report the GCPCW outcomes obtained from pre- and post-conference questionnaires, case-review breakout session, and an open discussion of needs for genetic counseling services in the Asia region. The GCPCW participants completed questionnaires with closed- and open-ended questions regarding the status and needs of providing genetic counseling services in Asia. Utilizing thematic content analysis, common themes shared during the case-review breakout session are summarized and survey results are tabulated. Of the 71 participants, pre- and post-conference questionnaires were returned by 57 (80%) and 44 (62%) individuals, respectively. Of the 42 participants who did not identify themselves as students in training, 36 (86%) stated they are currently providing genetic counseling services. Participants cited that the most useful information obtained during the GCPCW related to the status of genetic counseling services in the region, discovery of shared challenges, professional networking, and the need to establish genetic counseling training programs and its accreditation. The GCPCW provided a collaborative forum to address current challenges and needs of genetic counseling services in the region. Strategies were identified to foster genetic counseling training and clinical service opportunities.

76 FR 14034 - Proposed Collection; Comment Request; NCI Cancer Genetics Services Directory Web-Based...

Federal Register 2010, 2011, 2012, 2013, 2014

2011-03-15

... Request; NCI Cancer Genetics Services Directory Web-Based Application Form and Update Mailer Summary: In... Cancer Genetics Services Directory Web-based Application Form and Update Mailer. [[Page 14035

76 FR 28439 - Submission for OMB Review; Comment Request; NCI Cancer Genetics Services Directory Web-Based...

Federal Register 2010, 2011, 2012, 2013, 2014

2011-05-17

...; Comment Request; NCI Cancer Genetics Services Directory Web-Based Application Form and Update Mailer... currently valid OMB control number. Proposed Collection: Title: NCI Cancer Genetics Services Directory Web... application form and the Web-based update mailer is to collect information about genetics professionals to be...

The changing landscape of genetic testing and its impact on clinical and laboratory services and research in Europe

PubMed Central

Hastings, Ros; de Wert, Guido; Fowler, Brian; Krawczak, Michael; Vermeulen, Eric; Bakker, Egbert; Borry, Pascal; Dondorp, Wybo; Nijsingh, Niels; Barton, David; Schmidtke, Jörg; van El, Carla G; Vermeesch, Joris; Stol, Yrrah; Carmen Howard, Heidi; Cornel, Martina C

2012-01-01

The arrival of new genetic technologies that allow efficient examination of the whole human genome (microarray, next-generation sequencing) will impact upon both laboratories (cytogenetic and molecular genetics in the first instance) and clinical/medical genetic services. The interpretation of analytical results in terms of their clinical relevance and the predicted health status poses a challenge to both laboratory and clinical geneticists, due to the wealth and complexity of the information obtained. There is a need to discuss how to best restructure the genetic services logistically and to determine the clinical utility of genetic testing so that patients can receive appropriate advice and genetic testing. To weigh up the questions and challenges of the new genetic technologies, the European Society of Human Genetics (ESHG) held a series of workshops on 10 June 2010 in Gothenburg. This was part of an ESHG satellite symposium on the ‘Changing landscape of genetic testing', co-organized by the ESHG Genetic Services Quality and Public and Professional Policy Committees. The audience consisted of a mix of geneticists, ethicists, social scientists and lawyers. In this paper, we summarize the discussions during the workshops and present some of the identified ways forward to improve and adapt the genetic services so that patients receive accurate and relevant information. This paper covers ethics, clinical utility, primary care, genetic services and the blurring boundaries between healthcare and research. PMID:22453292

Impact of human genome initiative-derived technology on genetic testing, screening and counseling: Cultural, ethical and legal issues

DOE Office of Scientific and Technical Information (OSTI.GOV)

Trottier, R.W.; Hodgin, F.C.; Imara, M.

Genetic medical services provided by the Georgia Division of Public Health in two northern and two central districts are compared to services provided in a district in which a tertiary care facility is located. Genetics outreach public health nurses play key roles in Georgia's system of Children's Health Services Genetics Program, including significant roles as counselors and information sources on special needs social services and support organizations. Unique features of individual health districts, (e.g., the changing face of some rural communities in ethnocultural diversity and socioeconomic character), present new challenges to current and future genetics services delivery. Preparedness as tomore » educational needs of both health professionals and the lay population is of foremost concern in light of the ever expanding knowledge and technology in medical genetics. Perspectives on genetics and an overview of services offered by a local private sector counselor are included for comparison to state supported services. The nature of the interactions which transpire between private and public genetic services resources in Georgia will be described. A special focus of this research includes issues associated with sickle cell disease newborn screening service delivery process in Georgia, with particular attention paid to patient follow-up and transition to primary care. Of particular interest to this focus is the problem of loss to follow-up in the current system. Critical factors in education and counseling of sickle cell patients and the expectations of expanding roles of primary care physicians are discussed. The Florida approach to the delivery of genetic services contrasts to the Georgia model by placing more emphasis on a consultant-specialist team approach.« less

Impact of human genome initiative-derived technology on genetic testing, screening and counseling: Cultural, ethical and legal issues. Progress report

DOE Office of Scientific and Technical Information (OSTI.GOV)

Trottier, R.W.; Hodgin, F.C.; Imara, M.

Genetic medical services provided by the Georgia Division of Public Health in two northern and two central districts are compared to services provided in a district in which a tertiary care facility is located. Genetics outreach public health nurses play key roles in Georgia`s system of Children`s Health Services Genetics Program, including significant roles as counselors and information sources on special needs social services and support organizations. Unique features of individual health districts, (e.g., the changing face of some rural communities in ethnocultural diversity and socioeconomic character), present new challenges to current and future genetics services delivery. Preparedness as tomore » educational needs of both health professionals and the lay population is of foremost concern in light of the ever expanding knowledge and technology in medical genetics. Perspectives on genetics and an overview of services offered by a local private sector counselor are included for comparison to state supported services. The nature of the interactions which transpire between private and public genetic services resources in Georgia will be described. A special focus of this research includes issues associated with sickle cell disease newborn screening service delivery process in Georgia, with particular attention paid to patient follow-up and transition to primary care. Of particular interest to this focus is the problem of loss to follow-up in the current system. Critical factors in education and counseling of sickle cell patients and the expectations of expanding roles of primary care physicians are discussed. The Florida approach to the delivery of genetic services contrasts to the Georgia model by placing more emphasis on a consultant-specialist team approach.« less

The economics of clinical genetics services. III. Cognitive genetics services are not self-supporting.

PubMed Central

Bernhardt, B A; Pyeritz, R E

1989-01-01

We investigated the amount of time required to provide, and the charges and reimbursement for, cognitive genetics services in four clinical settings. In a prenatal diagnostic center, a mean of 3 h/couple was required to provide counseling and follow-up services with a mean charge of $30/h and collection of $27/h. Only 49% of personnel costs were covered by income from patient charges. In a genetics clinic in a private specialty hospital, 5.5 and 2.75 h were required to provide cognitive services to each new and follow-up family, respectively. The mean charge for each new family was $25/h and for follow-up families $13/h. The amount collected was less than 25% of that charged. In a pediatric genetics clinic in a large teaching hospital, new families required a mean of 4 h and were charged $28/h; follow-up families also required a mean of 4 h, and were charged $15/h. Only 55% of the amounts charged were collected. Income from patient charges covered only 69% of personnel costs. In a genetics outreach setting, 5 and 4.5 h were required to serve new and follow-up families, respectively. Charges were $25/h and $12/h, and no monies were collected. In all clinic settings, less than one-half of the total service time was that of a physician, and more than one-half of the service time occurred before and after the clinic visit. In no clinic setting were cognitive genetics services self-supporting. Means to improve the financial base of cognitive genetics services include improving collections, increasing charges, developing fee schedules, providing services more efficiently, and seeking state, federal, and foundation support for services. PMID:2912071

Introducing medical genetics services in Ethiopia using the MiGene Family History App.

PubMed

Quinonez, Shane C; Yeshidinber, Abate; Lourie, Michael A; Bekele, Delayehu; Mekonnen, Yemisrach; Nigatu, Balkachew; Metaferia, Gesit; Jebessa, Solomie

2018-06-11

Almost all low-income countries and many middle-income countries lack the capacity to deliver medical genetics services. We developed the MiGene Family History App (MFHA), which assists doctors with family history collection and population-level epidemiologic analysis. The MFHA was studied at St. Paul's Hospital in Addis Ababa, Ethiopia. A needs assessment was used to assess Ethiopian physicians' experience with genetics services. The MFHA then collected patient data over a 6-month period. The majority of doctors provide genetics services, with only 16% reporting their genetics knowledge is sufficient. A total of 1699 patients from the pediatric ward (n = 367), neonatal intensive care unit (NICU) (n = 477), and antenatal clinic (n = 855) were collected using the MFHA with a 4% incidence of a MFHA-screened condition present. The incidence was 11.7% in the pediatric ward, 3% in the NICU, and 0.5% in the antenatal clinic. Heart malformations (5.5% of patients) and trisomy 21 (4.4% of patients) were the most common conditions in the pediatric ward. Medical genetics services are needed in Ethiopia. As other countries increase their genetics capacity, the MFHA can provide fundamental genetics services and collect necessary epidemiologic data.

Practice considerations in providing cancer risk assessment and genetic testing in women's health.

PubMed

Mahon, Suzanne M; Crecelius, Mary E

2013-01-01

Providers of women's health services are often confronted with questions about cancer genetic testing. The provision of these services is complex. The process begins with accurate risk assessment and identification of individuals who might benefit from genetic testing services. There are practice, administrative, legal, and ethical considerations that should be considered when developing policies for the referral of at-risk individuals or before deciding to provide genetic services. © 2013 AWHONN, the Association of Women's Health, Obstetric and Neonatal Nurses.

Approaching confidentiality at a familial level in genomic medicine: a focus group study with healthcare professionals

PubMed Central

Dheensa, Sandi; Fenwick, Angela; Lucassen, Anneke

2017-01-01

Objectives Clinical genetics guidelines from 2011 conceptualise genetic information as confidential to families, not individuals. The normative consequence of this is that the family's interest is the primary consideration and genetic information is shared unless there are good reasons not to do so. We investigated healthcare professionals' (HCPs') views about, and reasoning around, individual and familial approaches to confidentiality and how such views influenced their practice. Method 16 focus groups with 80 HCPs working in/with clinical genetics services were analysed, drawing on grounded theory. Results Participants raised seven problems with, and arguments against, going beyond the individual approach to confidentiality. These problems fell into two overlapping categories: ‘relationships’ and ‘structures’. Most participants had never considered ways to—or thought it was impossible to—treat familial genetic information and personal information differently. They worried that putting the familial approach into practice could disrupt family dynamics and erode patient trust in the health service. They also thought they had insufficient resources to share information and feared that sharing might change the standard of care and make them more vulnerable to liability. Conclusions A familial approach to confidentiality has not been accepted or adopted as a standard, but wider research suggests that some of the problems HCPs perceived are surmountable and sharing in the interest of the family can be achieved. However, further research is needed to explore how personal and familial genetic information can be separated in practice. Our findings are relevant to HCPs across health services who are starting to use genome tests as part of their routine investigations. PMID:28159847

Distress and Burnout among Genetic Service Providers

PubMed Central

Bernhardt, Barbara A.; Rushton, Cynda H.; Carrese, Joseph; Pyeritz, Reed E.; Kolodner, Ken; Geller, Gail

2009-01-01

Purpose To determine the nature, sources, prevalence and consequences of distress and burnout among genetics professionals. Methods Mailed survey of randomly selected clinical geneticists (MDs), genetic counselors (GCs) and genetic nurses. Results 214 providers completed the survey (55% response rate). Eight discrete sources of distress were identified forming a valid 28-item scale (alpha=.89). The greatest sources of distress were compassion stress, the burden of professional responsibility, negative patient regard and concerns about informational bias. GCs were significantly more likely to experience personal values conflicts, burden of professional responsibility, and concerns about informational bias than MDs or nurses. Burnout scores were lower among those practicing more than 20 years and nurses. Distress scores were positively correlated with burnout and professional dissatisfaction (p<.0001). 18% of respondents think about leaving patient care, and burnout was the most significant predictor. Predictors of burnout included greater distress, fewer years in practice, working in university-based settings, being a GC or an MD, and deriving less meaning from patient care. Conclusions Genetic service providers experience various types of distress that may be risk factors for burnout and professional dissatisfaction. Interventions to reduce distress and burnout are needed for both trainees and practitioners. PMID:19444128

Genetic service delivery: infrastructure, assessment and information.

PubMed

Kaye, C I

2012-01-01

Identification of genomic determinants of complex disorders such as cancer, diabetes and cardiovascular disease has prompted public health systems to focus on genetic service delivery for prevention of these disorders, adding to their previous efforts in birth defects prevention and newborn screening. This focus is consistent with previously identified obligations of the public health system as well as the core functions of public health identified by the Institute of Medicine. Models of service delivery include provision of services by the primary care provider in conjunction with subspecialists, provision of services through the medical home with co-management by genetics providers, provision of services in conjunction with disorder-specific treatment centers, and provision of services through a network of genetics clinics linked to medical homes. Whatever the model for provision of genetic services, tools to assist providers include facilities for outreach and telemedicine, information technology, just-in-time management plans, and emergency management tools. Assessment tools to determine which care is best are critical for quality improvement and development of best practices. Because the workforce of genetics providers is not keeping pace with the need for services, an understanding of the factors contributing to this lag is important, as is the development of an improved knowledge base in genomics for primary care providers. Copyright © 2012 S. Karger AG, Basel.

The Alberta Hereditary Diseases Program: a regional model for delivery of genetic services.

PubMed Central

Lowry, R B; Bowen, P

1990-01-01

Genetic counselling and related services are generally provided at major university medical centres because they are very specialized. The need for rurally based genetic services prompted the inclusion of an outreached program in the Alberta Hereditary Diseases Program (AHDP), which was established in 1979; the AHDP was designed to provide services to the entire province through two regional centres and seven outreach clinics. There is a community health nurse in almost every health unit whose duties are either totally or partially devoted to the AHDP; thus, genetic help and information are as close as a rural health unit. The AHDP is designed to provide complete clinical (diagnostic, counselling and some management) services and laboratory (cytogenetic, biochemical and molecular) services for genetic disorders. In addition, the program emphasizes education and publishes a quarterly bulletin, which is sent free of charge to all physicians, hospitals, public health units, social service units, major radio and television stations, newspapers and public libraries and to selected individuals and groups in Alberta. PMID:2302614

Genetic risks and healthy choices: creating citizen-consumers of genetic services through empowerment and facilitation.

PubMed

Harvey, Alison

2010-03-01

Genetic testing to identify susceptibility to a variety of common complex diseases is increasingly becoming available. In this article, focusing on the development of genetic susceptibility testing for diet-related disease, I examine the emergence of direct-to-the-consumer genetic testing services and the (re)configuration of healthcare provision, both within and outside the specialist genetics service, in the UK. I identify two key techniques within these practices: empowerment and facilitation. Using Foucauldian social theory, I show that empowerment and facilitation are being positioned as tools for the creation of citizen-consumers who will make appropriate dietary choices, based on the results of their genetic analysis. Through these techniques, individuals are transformed into properly entrepreneurial citizens who will, through judicious choices, act to maximise their 'vital capital' (their health) and the capital of the social body. I argue that the user of these services is not purely an economic figure, making rational choices as a consumer, but that her configuration as a citizen-consumer who avails herself of genetic information and services in a proper manner ensures that she is fit to contribute to the economic life of our present.

How Might the Genetics Profession Better Utilize Social Media.

PubMed

Moore, Rebekah A; Matthews, Anne L; Cohen, Leslie

2018-04-01

Social media is a common method of communication in people's personal lives and professional settings. Gallagher et al. (2016) recommended, "it is time for genetic counselors to embrace social media as a means of communicating with patients or other healthcare professionals." Full members of the National Society of Genetic Counselors (NSGC) in the USA and Canada and genetics patients in Cleveland, OH, were surveyed to determine interest in using social media for patient-provider interactions. Both cohorts indicated that patient privacy and confidentiality would be a concern; however, survey results indicated patients would be interested in using social media to receive general information about genetic counseling and to learn about genetics services. Genetic counselors indicated privacy issues were not concerning if social media were to be used in this capacity. The majority of genetic counselor participants (88.7%) indicated they would welcome national guidelines for patient-provider social media use. Data from this study demonstrated that sharing what to expect at a genetic counseling appointment, defining genetic counseling, and announcing community outreach events are possible ways genetic counselors could utilize social media to communicate with and educate patients.

Communities and community genetics in Ethiopia.

PubMed

Tadesse, Luche; Tafesse, Fikru; Hamamy, Hanan

2014-01-01

The rates of congenital and genetic disorders in low and middle income countries are similar or might be higher than in high income countries due to a multitude of risk factors and the dearth of community genetic services. To direct effective preventive, diagnostic and counseling services, collecting data on the incidence and prevalence of various congenital and genetic disorders and their risk factors is a pre-requisite for establishing genetic services at the community level and mainly at the primary health care setting. This brief review is meant to assess the available epidemiological data in Ethiopia pertaining to congenital and genetic disorders on which the future community genetic services could be built. Existing epidemiological data on congenital and genetic disorders in Ethiopia is limited, and the few studies conducted revealed that folate and iodine deficiencies are prevalent among women in the reproductive age. Pregnant women's infection with syphilis and rubella is prevailing. Based on available data, cleft lip and palate, congenital heart diseases, club-foot, and gastro-intestinal malformations are the most common birth defects in Ethiopia. Community based studies to accurately demonstrate the incidence and prevalence levels of these disorders are almost unavailable. To plan for organization and implementation of community genetic services at the primary health care level in Ethiopia, conducting standardized epidemiological studies is currently highly recommended.

Communities and community genetics in Ethiopia

PubMed Central

Tadesse, Luche; Tafesse, Fikru; Hamamy, Hanan

2014-01-01

The rates of congenital and genetic disorders in low and middle income countries are similar or might be higher than in high income countries due to a multitude of risk factors and the dearth of community genetic services. To direct effective preventive, diagnostic and counseling services, collecting data on the incidence and prevalence of various congenital and genetic disorders and their risk factors is a pre-requisite for establishing genetic services at the community level and mainly at the primary health care setting. This brief review is meant to assess the available epidemiological data in Ethiopia pertaining to congenital and genetic disorders on which the future community genetic services could be built. Existing epidemiological data on congenital and genetic disorders in Ethiopia is limited, and the few studies conducted revealed that folate and iodine deficiencies are prevalent among women in the reproductive age. Pregnant women's infection with syphilis and rubella is prevailing. Based on available data, cleft lip and palate, congenital heart diseases, club-foot, and gastro-intestinalmalformations are the most common birth defects in Ethiopia. Community based studies to accurately demonstrate the incidence and prevalence levels of these disorders are almost unavailable. To plan for organization and implementation of community genetic services at the primary health care level in Ethiopia, conducting standardized epidemiological studies is currently highly recommended. PMID:25404975

Genetic parameters for body condition score, body weight, milk yield, and fertility estimated using random regression models.

PubMed

Berry, D P; Buckley, F; Dillon, P; Evans, R D; Rath, M; Veerkamp, R F

2003-11-01

Genetic (co)variances between body condition score (BCS), body weight (BW), milk yield, and fertility were estimated using a random regression animal model extended to multivariate analysis. The data analyzed included 81,313 BCS observations, 91,937 BW observations, and 100,458 milk test-day yields from 8725 multiparous Holstein-Friesian cows. A cubic random regression was sufficient to model the changing genetic variances for BCS, BW, and milk across different days in milk. The genetic correlations between BCS and fertility changed little over the lactation; genetic correlations between BCS and interval to first service and between BCS and pregnancy rate to first service varied from -0.47 to -0.31, and from 0.15 to 0.38, respectively. This suggests that maximum genetic gain in fertility from indirect selection on BCS should be based on measurements taken in midlactation when the genetic variance for BCS is largest. Selection for increased BW resulted in shorter intervals to first service, but more services and poorer pregnancy rates; genetic correlations between BW and pregnancy rate to first service varied from -0.52 to -0.45. Genetic selection for higher lactation milk yield alone through selection on increased milk yield in early lactation is likely to have a more deleterious effect on genetic merit for fertility than selection on higher milk yield in late lactation.

Attitudes About Regulation Among Direct-to-Consumer Genetic Testing Customers

PubMed Central

Green, Robert C.; Kaufman, David

2013-01-01

Introduction: The first regulatory rulings by the U.S. Food and Drug Administration on direct-to-consumer (DTC) genetic testing services are expected soon. As the process of regulating these and other genetic tests moves ahead, it is important to understand the preferences of DTC genetic testing customers about the regulation of these products. Methods: An online survey of customers of three DTC genetic testing companies was conducted 2–8 months after they had received their results. Participants were asked about the importance of regulating the companies selling DTC genetic tests. Results: Most of the 1,046 respondents responded that it would be important to have a nongovernmental (84%) or governmental agency (73%) monitor DTC companies' claims to ensure the consistency with scientific evidence. However, 66% also felt that it was important that DTC tests be available without governmental oversight. Nearly, all customers favored a policy to ensure that insurers and law enforcement officials could not access their information. Discussion: Although many DTC customers want access to genetic testing services without restrictions imposed by the government regulation, most also favor an organization operating alongside DTC companies that will ensure that the claims made by the companies are consistent with sound scientific evidence. This seeming contradiction may indicate that DTC customers want to ensure that they have unfettered access to high-quality information. Additionally, policies to help ensure privacy of data would be welcomed by customers, despite relatively high confidence in the companies. PMID:23560882

How do clinical genetics consent forms address the familial approach to confidentiality and incidental findings? A mixed-methods study.

PubMed

Dheensa, Sandi; Crawford, Gillian; Salter, Claire; Parker, Michael; Fenwick, Angela; Lucassen, Anneke

2018-01-01

Genetic test results can be relevant to patients and their relatives. Questions thus arise around whether clinicians regard genetic information as confidential to individuals or to families, and about how they broach this and other issues, including the potential for incidental findings, in consent (forms) for genetic testing. We conducted a content analysis of UK-wide genetic testing consent forms and interviewed 128 clinicians/laboratory scientists. We found that almost all genetic services offered patients multiple, sometimes unworkable, choices on forms, including an option to veto the use of familial genetic information to benefit relatives. Participants worried that documented choices were overriding professional judgement and cautioned against any future forms dictating practice around incidental findings. We conclude that 'tick-box' forms, which do little to enhance autonomy, are masking valid consent processes in clinical practice. As genome-wide testing becomes commonplace, we must re-consider consent processes, so that they protects patients'-and relatives'-interests.

Does receiving genetic counseling impact genetic counselor practice?

PubMed

Peters, Elizabeth; McCarthy Veach, Patricia; Ward, Erin E; LeRoy, Bonnie S

2004-10-01

This study was an investigation of whether genetic counselors have received genetic counseling and if so, how they believe it affects their practice. One thousand genetic counselors were mailed surveys about the nature of genetic counseling services received, impact on their clinical practice, frequency and reasons for disclosing about their receipt of counseling to their clients, and demographics. Ninety-three of the 510 respondents reported receiving genetic counseling. Of these, almost three-fourths were practicing genetic counselors while receiving services. Reasons for services include prenatal concerns, family history of cancer, and history/risk of other genetic conditions. Frequently endorsed effects on practice include increased empathy and understanding of client decisions, feeling more connected with clients, greater emphasis on psychosocial support, and sympathy. Forty-six respondents disclosed to clients about their receipt of genetic counseling. Prevalent reasons include client asked, help clients feel they are not alone, demonstrate counselor understanding, decrease client anxiety, build rapport, and normalize client feelings. Practice and research recommendations are given.

Using genetic algorithms to determine near-optimal pricing, investment and operating strategies in the electric power industry

NASA Astrophysics Data System (ADS)

Wu, Dongjun

Network industries have technologies characterized by a spatial hierarchy, the "network," with capital-intensive interconnections and time-dependent, capacity-limited flows of products and services through the network to customers. This dissertation studies service pricing, investment and business operating strategies for the electric power network. First-best solutions for a variety of pricing and investment problems have been studied. The evaluation of genetic algorithms (GA, which are methods based on the idea of natural evolution) as a primary means of solving complicated network problems, both w.r.t. pricing: as well as w.r.t. investment and other operating decisions, has been conducted. New constraint-handling techniques in GAs have been studied and tested. The actual application of such constraint-handling techniques in solving practical non-linear optimization problems has been tested on several complex network design problems with encouraging initial results. Genetic algorithms provide solutions that are feasible and close to optimal when the optimal solution is know; in some instances, the near-optimal solutions for small problems by the proposed GA approach can only be tested by pushing the limits of currently available non-linear optimization software. The performance is far better than several commercially available GA programs, which are generally inadequate in solving any of the problems studied in this dissertation, primarily because of their poor handling of constraints. Genetic algorithms, if carefully designed, seem very promising in solving difficult problems which are intractable by traditional analytic methods.

Coverage of genetic technologies under national health reform.

PubMed Central

Mehlman, M. J.; Botkin, J. R.; Scarrow, A.; Woodhall, A.; Kass, J.; Siebenschuh, E.

1994-01-01

This article examines the extent to which the technologies expected to emerge from genetic research are likely to be covered under Government-mandated health insurance programs such as those being proposed by advocates of national health reform. Genetic technologies are divided into three broad categories; genetic information services, including screening, testing, and counseling; experimental technologies; and gene therapy. This article concludes that coverage of these technologies under national health reform is uncertain. The basic benefits packages provided for in the major health reform plans are likely to provide partial coverage of experimental technologies; relatively broad coverage of information services; and varying coverage of gene therapies, on the basis of an evaluation of their costs, benefits, and the degree to which they raise objections on political and religious grounds. Genetic services that are not included in the basic benefits package will be available only to those who can purchase supplemental insurance or to those who can purchase the services with personal funds. The resulting multitiered system of access to genetic services raises serious questions of fairness. PMID:7977343

Competences, education and support for new roles in cancer genetics services: outcomes from the cancer genetics pilot projects.

PubMed

Bennett, Catherine; Burton, Hilary; Farndon, Peter

2007-01-01

In 2004 the Department of Health in collaboration with Macmillan Cancer Support set up service development projects to pilot the integration of genetics in mainstream medicine in the area of cancer genetics.In developing these services, new roles and responsibilities were devised that required supporting programmes of education and training. The NHS National Genetics Education and Development Centre has worked with the projects to draw together their experience in these aspects. New roles include the Cancer Family Nurse Specialist, in which a nurse working in a cancer setting was trained to identify and manage genetic or family history concerns, and the Genetic Risk Assessment Practitioner--a small team of practitioners working within a secondary care setting to deliver a standardised risk assessment pathway. Existing roles were also adapted for a different setting, in particular the use of genetic counsellors working in a community ethnic minority setting. These practitioners undertook a range of clinical activities that can be mapped directly to the 'UK National Workforce Competences for Genetics in Clinical Practice for Non-genetics Healthcare Staff' framework developed by Skills for Health and the NHS National Genetics Education and Development Centre (2007; draft competence framework). The main differences between the various roles were in the ordering of genetic tests and the provision of advice on invasive preventive options such as mastectomy. Those involved in service development also needed to develop competences in project management, business skills, audit and evaluation, working with users, general management (personnel, multi-agency work and marketing), educational supervision, IT, public and professional outreach, and research. Important resources to support the development of new roles and competences included pathways and guidelines, a formal statement of competences, a recognised syllabus, appropriate and timely courses, the availability of a mentor, supervision and opportunities to discuss cases, a formal assessment of learning and continuing support from specialist genetics services. This represents a current resource gap that will be of concern to cancer networks and a challenge to providers of educational resources and regional genetics services.

Utilizing Remote Real-Time Videoconferencing to Expand Access to Cancer Genetic Services in Community Practices: A Multicenter Feasibility Study.

PubMed

Bradbury, Angela; Patrick-Miller, Linda; Harris, Diana; Stevens, Evelyn; Egleston, Brian; Smith, Kyle; Mueller, Rebecca; Brandt, Amanda; Stopfer, Jill; Rauch, Shea; Forman, Andrea; Kim, Rebecca; Fetzer, Dominique; Fleisher, Linda; Daly, Mary; Domchek, Susan

2016-02-01

Videoconferencing has been used to expand medical services to low-access populations and could increase access to genetic services at community sites where in-person visits with genetic providers are not available. To evaluate the feasibility of, patient feedback of, and cognitive and affective responses to remote two-way videoconferencing (RVC) telegenetic services at multiple sociodemographically diverse community practices without access to genetic providers. Patients at 3 community sites in 2 US states outside the host center completed RVC pretest (visit 1, V1) and post-test (visit 2, V2) genetic counseling for cancer susceptibility. Surveys evaluated patient experiences, knowledge, satisfaction with telegenetic and cancer genetics services, anxiety, depression, and cancer worry. A total of 82 out of 100 (82.0%) approached patients consented to RVC services. A total of 61 out of 82 patients (74%) completed pretest counseling and 41 out of 61 (67%) proceeded with testing and post-test counseling. A total of 4 out of 41 (10%) mutation carriers were identified: BRCA2, MSH2, and PMS2. Patients reported many advantages (eg, lower travel burden and convenience) and few disadvantages to RVC telegenetic services. Most patients reported feeling comfortable with the video camera--post-V1: 52/57 (91%); post-V2: 39/41 (95%)--and that their privacy was respected--post-V1: 56/57 (98%); post-V2: 40/41 (98%); however, some reported concerns that RVC might increase the risk of a confidentiality breach of their health information--post-V1: 14/57 (25%); post-V2: 12/41 (29%). While the majority of patients reported having no trouble seeing or hearing the genetic counselor--post-V1: 47/57 (82%); post-V2: 39/41 (95%)--51 out of 98 (52%) patients reported technical difficulties. Nonetheless, all patients reported being satisfied with genetic services. Compared to baseline, knowledge increased significantly after pretest counseling (+1.11 mean score, P=.005); satisfaction with telegenetic (+1.74 mean score, P=.02) and genetic services (+2.22 mean score, P=.001) increased after post-test counseling. General anxiety and depression decreased after pretest (-0.97 mean anxiety score, P=.003; -0.37 mean depression score, P=.046) and post-test counseling (-1.13 mean anxiety score, P=.003; -0.75 mean depression score, P=.01); state anxiety and cancer-specific worry did not significantly increase. Remote videoconferencing telegenetic services are feasible, identify genetic carriers in community practices, and are associated with high patient satisfaction and favorable cognitive and affective outcomes, suggesting an innovative delivery model for further study to improve access to genetic providers and services. Potential barriers to dissemination include technology costs, unclear billing and reimbursement, and state requirements for provider licensure.

Variation in healthcare services for specialist genetic testing and implications for planning genetic services: the example of inherited retinal dystrophy in the English NHS.

PubMed

Harrison, Mark; Birch, Stephen; Eden, Martin; Ramsden, Simon; Farragher, Tracey; Payne, Katherine; Hall, Georgina; Black, Graeme Cm

2015-04-01

This study aims to identify and quantify the extent of current variation in service provision of a genetic testing service for dominant and X-linked retinal dystrophies in the English National Health Service (NHS). National audit data (all test requests and results (n = 1839) issued between 2003 and 2011) and survey of English regional genetic testing services were used. Age- and gender-adjusted standardised testing rates were calculated using indirect standardisation, and survey responses were transcribed verbatim and data collated and summarised. The cumulative incidence rate of testing in England was 4.5 per 100,000 population for males and 2.6 per 100,000 population for females. The standardised testing rate (STR) varied widely between regions of England, being particularly low in the North-east (STR 0.485), with half as many tests as expected based on the size and demographic distribution of the population and high in the South-east (STR 1.355), with 36 % more tests than expected. Substantial and significantly different rates of testing were found between regional populations. Specific policy mechanisms to promote, monitor and evaluate the regional distribution of access to genetic and genomic testing are required. However, commissioners will require information on the scope and role of genetic services and the population at risk of the conditions for which patients are tested.

75 FR 28809 - Notice of Request for Public Comment

Federal Register 2010, 2011, 2012, 2013, 2014

2010-05-24

... Comment AGENCY: Secretary's Advisory Committee on Genetics, Health, and Society, Office of the Secretary, Department of Health and Human Services. SUMMARY: The Secretary's Advisory Committee on Genetics, Health, and... Services (HHS) on genetics education and training of health care professionals, public health providers...

A prospective cohort study assessing clinical referral management & workforce allocation within a UK regional medical genetics service.

PubMed

Benjamin, Caroline; Houghton, Catherine; Foo, Claire; Edgar, Chris; Mannion, Gail; Birch, Jan; Ellis, Ian; Weber, Astrid

2015-08-01

Ensuring patient access to genomic information in the face of increasing demand requires clinicians to develop innovative ways of working. This paper presents the first empirical prospective observational cohort study of UK multi-disciplinary genetic service delivery. It describes and explores collaborative working practices including the utilisation and role of clinical geneticists and non-medical genetic counsellors. Six hundred and fifty new patients referred to a regional genetics service were tracked through 850 clinical contacts until discharge. Referral decisions regarding allocation of lead health professional assigned to the case were monitored, including the use of initial clinical contact guidelines. Significant differences were found in the cases led by genetic counsellors and those led by clinical geneticists. Around a sixth, 16.8% (109/650) of referrals were dealt with by a letter back to the referrer or re-directed to another service provider and 14.8% (80/541) of the remaining patients chose not to schedule an appointment. Of the remaining 461 patients, genetic counsellors were allocated as lead health professional for 46.2% (213/461). A further 61 patients did not attend. Of those who did, 86.3% (345/400) were discharged after one or two appointments. Genetic counsellors contributed to 95% (784/825) of total patient contacts. They provided 93.7% (395/432) of initial contacts and 26.8% (106/395) of patients were discharged at that point. The information from this study informed a planned service re-design. More research is needed to assess the effectiveness and efficiency of different models of collaborative multi-disciplinary working within genetics services.

Expanding Access to BRCA1/2 Genetic Counseling with Telephone Delivery: A Cluster Randomized Trial

PubMed Central

Butler, Karin M.; Schwartz, Marc D.; Mandelblatt, Jeanne S.; Boucher, Kenneth M.; Pappas, Lisa M.; Gammon, Amanda; Kohlmann, Wendy; Edwards, Sandra L.; Stroup, Antoinette M.; Buys, Saundra S.; Flores, Kristina G.; Campo, Rebecca A.

2014-01-01

Background The growing demand for cancer genetic services underscores the need to consider approaches that enhance access and efficiency of genetic counseling. Telephone delivery of cancer genetic services may improve access to these services for individuals experiencing geographic (rural areas) and structural (travel time, transportation, childcare) barriers to access. Methods This cluster-randomized clinical trial used population-based sampling of women at risk for BRCA1/2 mutations to compare telephone and in-person counseling for: 1) equivalency of testing uptake and 2) noninferiority of changes in psychosocial measures. Women 25 to 74 years of age with personal or family histories of breast or ovarian cancer and who were able to travel to one of 14 outreach clinics were invited to participate. Randomization was by family. Assessments were conducted at baseline one week after pretest and post-test counseling and at six months. Of the 988 women randomly assigned, 901 completed a follow-up assessment. Cluster bootstrap methods were used to estimate the 95% confidence interval (CI) for the difference between test uptake proportions, using a 10% equivalency margin. Differences in psychosocial outcomes for determining noninferiority were estimated using linear models together with one-sided 97.5% bootstrap CIs. Results Uptake of BRCA1/2 testing was lower following telephone (21.8%) than in-person counseling (31.8%, difference = 10.2%, 95% CI = 3.9% to 16.3%; after imputation of missing data: difference = 9.2%, 95% CI = -0.1% to 24.6%). Telephone counseling fulfilled the criteria for noninferiority to in-person counseling for all measures. Conclusions BRCA1/2 telephone counseling, although leading to lower testing uptake, appears to be safe and as effective as in-person counseling with regard to minimizing adverse psychological reactions, promoting informed decision making, and delivering patient-centered communication for both rural and urban women. PMID:25376862

Heritability of specific language impairment depends on diagnostic criteria.

PubMed

Bishop, D V M; Hayiou-Thomas, M E

2008-04-01

Heritability estimates for specific language impairment (SLI) have been inconsistent. Four twin studies reported heritability of 0.5 or more, but a recent report from the Twins Early Development Study found negligible genetic influence in 4-year-olds. We considered whether the method of ascertainment influenced results and found substantially higher heritability if SLI was defined in terms of referral to speech and language pathology services than if defined by language test scores. Further analysis showed that presence of speech difficulties played a major role in determining whether a child had contact with services. Childhood language disorders that are identified by population screening are likely to have a different phenotype and different etiology from clinically referred cases. Genetic studies are more likely to find high heritability if they focus on cases who have speech difficulties and who have been referred for intervention.

A population-based survey in Australia of men's and women's perceptions of genetic risk and predictive genetic testing and implications for primary care.

PubMed

Taylor, S

2011-01-01

Community attitudes research regarding genetic issues is important when contemplating the potential value and utilisation of predictive testing for common diseases in mainstream health services. This article aims to report population-based attitudes and discuss their relevance to integrating genetic services in primary health contexts. Men's and women's attitudes were investigated via population-based omnibus telephone survey in Queensland, Australia. Randomly selected adults (n = 1,230) with a mean age of 48.8 years were interviewed regarding perceptions of genetic determinants of health; benefits of genetic testing that predict 'certain' versus 'probable' future illness; and concern, if any, regarding potential misuse of genetic test information. Most (75%) respondents believed genetic factors significantly influenced health status; 85% regarded genetic testing positively although attitudes varied with age. Risk-based information was less valued than certainty-based information, but women valued risk information significantly more highly than men. Respondents reported 'concern' (44%) and 'no concern' (47%) regarding potential misuse of genetic information. This study contributes important population-based data as most research has involved selected individuals closely impacted by genetic disorders. While community attitudes were positive regarding genetic testing, genetic literacy is important to establish. The nature of gender differences regarding risk perception merits further study and has policy and service implications. Community concern about potential genetic discrimination must be addressed if health benefits of testing are to be maximised. Larger questions remain in scientific, policy, service delivery, and professional practice domains before predictive testing for common disorders is efficacious in mainstream health care. Copyright © 2011 S. Karger AG, Basel.

Genetic consultation embedded in a gynecologic oncology clinic improves compliance with guideline-based care.

PubMed

Senter, Leigha; O'Malley, David M; Backes, Floor J; Copeland, Larry J; Fowler, Jeffery M; Salani, Ritu; Cohn, David E

2017-10-01

Analyze the impact of embedding genetic counseling services in gynecologic oncology on clinician referral and patient uptake of cancer genetics services. Data were reviewed for a total of 737 newly diagnosed epithelial ovarian cancer patients seen in gynecologic oncology at a large academic medical center including 401 from 11/2011-7/2014 (a time when cancer genetics services were provided as an off-site consultation). These data were compared to data from 8/2014-9/2016 (n=336), when the model changed to the genetics embedded model (GEM), incorporating a cancer genetic counselor on-site in the gynecologic oncology clinic. A statistically significant difference in proportion of patients referred pre- and post-GEM was observed (21% vs. 44%, p<0.0001). Pre-GEM, only 38% of referred patients were actually scheduled for genetics consultation and post-GEM 82% were scheduled (p<0.00001). The difference in the time from referral to scheduling in genetics was also statistically significant (3.92months pre-GEM vs. 0.79months post-GEM, p<0.00001) as was the time from referral to completion of genetics consultation (2.52months pre-GEM vs. 1.67months post-GEM, p<0.01). Twenty-five percent of patients referred post GEM were seen by the genetic counselor on the same day as the referral. Providing cancer genetics services on-site in gynecologic oncology and modifying the process by which patients are referred and scheduled significantly increases referral to cancer genetics and timely completion of genetics consultation, improving compliance with guideline-based care. Practice changes are critical given the impact of genetic test results on treatment and familial cancer risks. Copyright © 2017 Elsevier Inc. All rights reserved.

Health Orientation, Knowledge, and Attitudes toward Genetic Testing and Personalized Genomic Services: Preliminary Data from an Italian Sample.

PubMed

Oliveri, Serena; Masiero, Marianna; Arnaboldi, Paola; Cutica, Ilaria; Fioretti, Chiara; Pravettoni, Gabriella

2016-01-01

Objective . The study aims at assessing personality tendencies and orientations that could be closely correlated with knowledge, awareness, and interest toward undergoing genetic testing. Methods. A sample of 145 subjects in Italy completed an online survey, investigating demographic data, health orientation, level of perceived knowledge about genetic risk, genetic screening, and personal attitudes toward direct to consumer genetic testing (DTCGT). Results . Results showed that respondents considered genetic assessment to be helpful for disease prevention, but they were concerned that results could affect their life planning with little clinical utility. Furthermore, a very high percentage of respondents (67%) had never heard about genetic testing directly available to the public. Data showed that personality tendencies, such as personal health consciousness, health internal control, health esteem, and confidence, motivation to avoid unhealthiness and motivation for healthiness affected the uptake of genetic information and the interest in undergoing genetic testing. Conclusions . Public knowledge and attitudes toward genetic risk and genetic testing among European countries, along with individual personality and psychological tendencies that could affect these attitudes, remain unexplored. The present study constitutes one of the first attempts to investigate how such personality tendencies could motivation to undergo genetic testing and engagement in lifestyle changes.

Health Orientation, Knowledge, and Attitudes toward Genetic Testing and Personalized Genomic Services: Preliminary Data from an Italian Sample

PubMed Central

Arnaboldi, Paola; Cutica, Ilaria; Fioretti, Chiara

2016-01-01

Objective. The study aims at assessing personality tendencies and orientations that could be closely correlated with knowledge, awareness, and interest toward undergoing genetic testing. Methods. A sample of 145 subjects in Italy completed an online survey, investigating demographic data, health orientation, level of perceived knowledge about genetic risk, genetic screening, and personal attitudes toward direct to consumer genetic testing (DTCGT). Results. Results showed that respondents considered genetic assessment to be helpful for disease prevention, but they were concerned that results could affect their life planning with little clinical utility. Furthermore, a very high percentage of respondents (67%) had never heard about genetic testing directly available to the public. Data showed that personality tendencies, such as personal health consciousness, health internal control, health esteem, and confidence, motivation to avoid unhealthiness and motivation for healthiness affected the uptake of genetic information and the interest in undergoing genetic testing. Conclusions. Public knowledge and attitudes toward genetic risk and genetic testing among European countries, along with individual personality and psychological tendencies that could affect these attitudes, remain unexplored. The present study constitutes one of the first attempts to investigate how such personality tendencies could motivation to undergo genetic testing and engagement in lifestyle changes. PMID:28105428

Routing design and fleet allocation optimization of freeway service patrol: Improved results using genetic algorithm

NASA Astrophysics Data System (ADS)

Sun, Xiuqiao; Wang, Jian

2018-07-01

Freeway service patrol (FSP), is considered to be an effective method for incident management and can help transportation agency decision-makers alter existing route coverage and fleet allocation. This paper investigates the FSP problem of patrol routing design and fleet allocation, with the objective of minimizing the overall average incident response time. While the simulated annealing (SA) algorithm and its improvements have been applied to solve this problem, they often become trapped in local optimal solution. Moreover, the issue of searching efficiency remains to be further addressed. In this paper, we employ the genetic algorithm (GA) and SA to solve the FSP problem. To maintain population diversity and avoid premature convergence, niche strategy is incorporated into the traditional genetic algorithm. We also employ elitist strategy to speed up the convergence. Numerical experiments have been conducted with the help of the Sioux Falls network. Results show that the GA slightly outperforms the dual-based greedy (DBG) algorithm, the very large-scale neighborhood searching (VLNS) algorithm, the SA algorithm and the scenario algorithm.

Is there a doctor in the house? : The presence of physicians in the direct-to-consumer genetic testing context.

PubMed

Howard, Heidi Carmen; Borry, Pascal

2012-04-01

Over the last couple of years, many commercial companies, the majority of which are based in the USA, have been advertising and offering direct-to-consumer (DTC) genetic testing services outside of the established health care system, and often without any involvement from a health care professional. In the last year, however, a number of DTC genetic testing companies have changed their provision model such that consumers must now contact a health care professional before being able to order the genetic testing service. In discussing the advent of this new model of service provision, this article also reviews the ethical and social issues surrounding DTC genetic testing and addresses the potential motivations for change, some barriers to achieving truly appropriate medical supervision and the present reality of DTC genetic testing for some psychiatric and neurological disorders. Since the advent of these commercial activities, critics have pointed a finger at the lack of medical supervision surrounding these services. The discussion herein, however, reveals how difficult it may be, despite the addition of a physician, to actually achieve adequate medical supervision within the present context of DTC genetic testing.

Pre-test genetic counseling services for hereditary breast and ovarian cancer delivered by non-genetics professionals in the state of Florida.

PubMed

Vadaparampil, S T; Scherr, C L; Cragun, D; Malo, T L; Pal, T

2015-05-01

Genetic counseling and testing for hereditary breast and ovarian cancer now includes practitioners from multiple healthcare professions, specialties, and settings. This study examined whether non-genetics professionals (NGPs) perform guideline-based patient intake and informed consent before genetic testing. NGPs offering BRCA testing services in Florida (n = 386) were surveyed about clinical practices. Among 81 respondents (response rate = 22%), approximately half reported: sometimes scheduling a separate session for pre-test counseling lasting 11-30 min prior to testing, discussing familial implications of testing, benefits and limitations of risk management options, and discussing the potential psychological impact and insurance-related issues. Few constructed a three-generation pedigree, discussed alternative hereditary cancer syndromes, or the meaning of a variant result. This lack of adherence to guideline-based practice may result in direct harm to patients and their family members. NGPs who are unable to deliver guideline adherent cancer genetics services should focus on identification and referral of at-risk patients to in person or telephone services provided by genetics professionals. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Genetic education for primary care providers

PubMed Central

Carroll, June C.; Rideout, Andrea L.; Wilson, Brenda J.; Allanson, Judith MD; Blaine, Sean M.; Esplen, Mary Jane; Farrell, Sandra A.; Graham, Gail E.; MacKenzie, Jennifer; Meschino, Wendy; Miller, Fiona; Prakash, Preeti; Shuman, Cheryl; Summers, Anne; Taylor, Sherry

2009-01-01

ABSTRACT OBJECTIVE To increase primary care providers’ awareness and use of genetic services; increase their knowledge of genetic issues; increase their confidence in core genetic competencies; change their attitudes toward genetic testing for hereditary diseases; and increase their confidence as primary care genetic resources. DESIGN Participants completed a workshop and 3 questionnaires: a baseline questionnaire, a survey that provided immediate feedback on the workshop itself, and a follow-up questionnaire 6 months later. SETTING Ontario. PARTICIPANTS Primary care providers suggested by deans of nursing, midwifery, family medicine, and obstetric programs, as well as coordinators of nurse practitioner programs, in Ontario and by the Ontario College of Family Physicians. INTERVENTION A complex educational intervention was developed, including an interactive workshop and PowerPoint educational modules on genetic topics for participants’ use (available at www.mtsinai.on.ca/FamMedGen/). MAIN OUTCOME MEASURES Awareness and use of genetic services, knowledge of genetics, confidence in core clinical genetic skills, attitudes toward genetic testing, and teaching activities related to genetics. RESULTS The workshop was attended by 29 participants; of those, 21 completed the baseline questionnaire and the 6-month follow-up questionnaire. There was no significant change found in awareness or reported use of genetic services. There was significant improvement in self-assessed knowledge of (P = .001) and confidence in (P = .005) skills related to adult-onset genetic disorders. There were significant increases in confidence in many core genetic competencies, including assessing risk of hereditary disorders (P = .033), deciding who should be offered referral for genetic counseling (P = .003), discussing prenatal testing options (P = .034), discussing benefits, risks, and limitations of genetic testing (P = .033), and describing what to expect at a genetic counseling session (P = .022). There was a significant increase in the number of primary care providers agreeing that genetic testing was beneficial in the management of adult-onset diseases (P = .031) and in their confidence in being primary care genetic resources for adult-onset genetic disorders (P = .006). CONCLUSION Educational interventions that include interactive peer resource workshops and educational modules can increase knowledge of and confidence in the core competencies needed for the delivery of genetic services in primary care. PMID:20008584

Genetic gatekeepers: regulating direct-to-consumer genomic services in an era of participatory medicine.

PubMed

Palmer, Jessica Elizabeth

2012-01-01

Should consumers be able to obtain information about their own bodies, even if it has no proven medical value? Direct-to-consumer ("DTC") genomic companies offer consumers two services: generation of the consumer's personal genetic sequence, and interpretation of that sequence in light of current research. Concerned that consumers will misunderstand genomic information and make ill-advised health decisions, regulators, legislators and scholars have advocated restricted access to DTC genomic services. The Food and Drug Administration, which has historically refrained from regulating most genetic tests, has announced its intent to treat DTC genomic services as medical devices because they make "medical claims." This Article argues that FDA regulation of genomic services as medical devices would be counterproductive. Clinical laboratories conducting genetic tests are already overseen by a federal regime administered by the Centers for Medicare and Medicaid Services. While consumers and clinicians would benefit from clearer communication of test results and their health implications, FDA's gatekeeping framework is ill-suited to weigh the safety and efficacy of genomic information that is not medically actionable in traditional ways. Playing gatekeeper would burden FDA's resources, conflict with the patient-empowering policies promoted by personalized medicine initiatives, impair individuals' access to information in which they have powerful autonomy interests, weaken novel participatory research infrastructures, and set a poor precedent for the future regulation of medical information. Rather than applying its risk-based regulatory framework to genetic information, FDA should ameliorate regulatory uncertainty by working with the Federal Trade Commission and Centers for Medicare and Medicaid Services to ensure that DTC genomic services deliver analytically valid data, market and implement their services in a truthful manner, and fully disclose the limitations of their services. Federal agencies with relevant expertise should collaborate on standards and best practices for interpreting genetic information in light of scientific uncertainty, and an adverse event reporting system should be established to collect empirical data verifying or disproving the speculative harms resulting from individual access to genetic information. Most of all, FDA should take advantage of this opportunity to adapt its regulatory process to an increasingly informational health ecosystem.

Effective Referral of Low-Income Women at Risk for Hereditary Breast and Ovarian Cancer to Genetic Counseling: A Randomized Delayed Intervention Control Trial

PubMed Central

Joseph, Galen; Stewart, Susan; Kaplan, Celia; Lee, Robin; Luce, Judith; Davis, Sharon; Marquez, Titas; Nguyen, Tung; Guerra, Claudia

2016-01-01

Objectives. To determine the effectiveness of a statewide telephone service in identifying low-income women at risk for hereditary breast and ovarian cancer and referring them to free genetic counseling. Methods. From June 2010 through August 2011, eligible callers to California’s toll-free breast and cervical cancer telephone service were screened for their family histories of breast and ovarian cancer. High-risk women were identified and called for a baseline survey and randomization to an immediate offer of genetic counseling or a mailed brochure on how to obtain counseling. Clinic records were used to assess receipt of genetic counseling after 2 months. Results. Among 1212 eligible callers, 709 (58.5%) agreed to answer family history questions; 102 (14%) were at high risk (25% Hispanic, 46% White, 10% Black, 16% Asian, 3% of other racial/ethnic backgrounds). Of the high-risk women offered an immediate appointment, 39% received counseling during the intervention period, as compared with 4.5% of those receiving the brochure. Conclusions. A public health approach to the rare but serious risk of hereditary breast and ovarian cancer can be successful when integrated into the efforts of existing safety net organizations. PMID:27552275

Genetic services in Ecuador.

PubMed

Paz-y-Miño, César

2004-01-01

Ecuador has a population of 12 million inhabitants, composed of a variety of ethnic groups. The majority of the population lives in rural areas. There is a severe deficiency in health services, and most diseases are associated with poor life conditions: malnutrition, parasitic diseases and infections. At the same time, however, chronic diseases, e.g. cancer, have increased in prevalence. Most genetic services are provided by the private sector, which offers clinical genetic consultations and counseling, cytogenetic analyses, a limited number of molecular and biomedical tests, and prenatal diagnosis. Genetic research is centered in the universities of important cities (Quito, Guayaquil and Cuenca). The government sponsors some university research projects but does not conduct health actions in genetics in the community. There is an incipient interest in ethic and legal issues in genetics, such as how to provide modern genomic medicine in a resource-poor country. Copyright (c) 2004 S. Karger AG, Basel.

Impact of gene patents on diagnostic testing: a new patent landscaping method applied to spinocerebellar ataxia

PubMed Central

Berthels, Nele; Matthijs, Gert; Van Overwalle, Geertrui

2011-01-01

Recent reports in Europe and the United States raise concern about the potential negative impact of gene patents on the freedom to operate of diagnosticians and on the access of patients to genetic diagnostic services. Patents, historically seen as legal instruments to trigger innovation, could cause undesired side effects in the public health domain. Clear empirical evidence on the alleged hindering effect of gene patents is still scarce. We therefore developed a patent categorization method to determine which gene patents could indeed be problematic. The method is applied to patents relevant for genetic testing of spinocerebellar ataxia (SCA). The SCA test is probably the most widely used DNA test in (adult) neurology, as well as one of the most challenging due to the heterogeneity of the disease. Typically tested as a gene panel covering the five common SCA subtypes, we show that the patenting of SCA genes and testing methods and the associated licensing conditions could have far-reaching consequences on legitimate access to this gene panel. Moreover, with genetic testing being increasingly standardized, simply ignoring patents is unlikely to hold out indefinitely. This paper aims to differentiate among so-called ‘gene patents' by lifting out the truly problematic ones. In doing so, awareness is raised among all stakeholders in the genetic diagnostics field who are not necessarily familiar with the ins and outs of patenting and licensing. PMID:21811306

Letting the family know: balancing ethics and effectiveness when notifying relatives about genetic testing for a familial disorder.

PubMed

Suthers, G K; Armstrong, J; McCormack, J; Trott, D

2006-08-01

To increase the awareness among at risk relatives of the availability of genetic testing for a familial disorder while respecting their autonomy and privacy. This was a comparison of preintervention and postintervention cohorts of families carried out in a state wide clinical service providing genetic counselling and testing for people at risk of familial adult onset cancer. Unaffected relatives who were not clients of the service in 74 kindreds with familial mutations causing familial breast and ovarian cancer, hereditary non-polyposis colorectal cancer, or Cowden syndrome were included in the study. In the baseline cohort (41 kindreds), family members who were clients of the clinical service and had been shown to be carriers of mutations were asked to advise relatives that genetic testing was available. In the intervention cohort (33 kindreds), the clinical service obtained consent to advise at risk relatives by letter that genetic testing was available. The main outcome measures were: (a) proportion of unaffected first and second degree relatives of the proband in each family whose genetic status was clarified within 2 years of the mutation being identified in the family, and (b) concerns regarding privacy and autonomy voiced by relatives receiving these letters. In the baseline cohort, the average proportion of relatives in each family whose genetic status was clarified was 23%. In the intervention cohort, the average proportion of relatives in each family whose genetic status was clarified was 40% (p = 0.001). None of the relatives in the intervention cohort complained of a breach of privacy or autonomy. Clinical services can take an effective and proactive approach to notifying relatives who are not their clients of the availability of genetic testing without compromising principles of privacy and autonomy.

Yesterday's war; tomorrow's technology: peer commentary on 'Ethical, legal, social and policy issues in the use of genomic technologies by the US military'.

PubMed

Evans, Nicholas G; Moreno, Jonathan D

2015-02-01

A recent article by Maxwell J. Mehlman and Tracy Yeheng Li, in the Journal of Law and the Biosciences , sought to examine the ethical, legal, social, and policy issues associated with the use of genetic screening and germ-line therapies ('genomic technologies') by the US Military. In this commentary, we will elaborate several related matters: the relationship between genetic and non-genetic screening methods, the history of selection processes and force strength, and the consequences and ethics of, as Mehlman and Li suggest, engineering enhanced soldiers. We contend, first, that the strengths of genomic testing as a method of determining enrollment in the armed forces has limited appeal, given the state of current selection methods in the US armed forces. Second, that the vagaries of genetic selection, much like other forms of selection that do not bear causally or reliably on soldier performance (such as race, gender, and sexuality), pose a systematic threat to force strength by limiting the (valuable) diversity of combat units. Third, that the idea of enhancing warfighters through germ-line interventions poses serious ethical issues in terms of the control and ownership of 'enhancements' when members separate from service.

A service-oriented architecture for integrating the modeling and formal verification of genetic regulatory networks

PubMed Central

2009-01-01

Background The study of biological networks has led to the development of increasingly large and detailed models. Computer tools are essential for the simulation of the dynamical behavior of the networks from the model. However, as the size of the models grows, it becomes infeasible to manually verify the predictions against experimental data or identify interesting features in a large number of simulation traces. Formal verification based on temporal logic and model checking provides promising methods to automate and scale the analysis of the models. However, a framework that tightly integrates modeling and simulation tools with model checkers is currently missing, on both the conceptual and the implementational level. Results We have developed a generic and modular web service, based on a service-oriented architecture, for integrating the modeling and formal verification of genetic regulatory networks. The architecture has been implemented in the context of the qualitative modeling and simulation tool GNA and the model checkers NUSMV and CADP. GNA has been extended with a verification module for the specification and checking of biological properties. The verification module also allows the display and visual inspection of the verification results. Conclusions The practical use of the proposed web service is illustrated by means of a scenario involving the analysis of a qualitative model of the carbon starvation response in E. coli. The service-oriented architecture allows modelers to define the model and proceed with the specification and formal verification of the biological properties by means of a unified graphical user interface. This guarantees a transparent access to formal verification technology for modelers of genetic regulatory networks. PMID:20042075

The Impact of Childhood Obesity on Health and Health Service Use.

PubMed

Kinge, Jonas Minet; Morris, Stephen

2018-06-01

To test the impact of obesity on health and health care use in children, by the use of various methods to account for reverse causality and omitted variables. Fifteen rounds of the Health Survey for England (1998-2013), which is representative of children and adolescents in England. We use three methods to account for reverse causality and omitted variables in the relationship between BMI and health/health service use: regression with individual, parent, and household control variables; sibling fixed effects; and instrumental variables based on genetic variation in weight. We include all children and adolescents aged 4-18 years old. We find that obesity has a statistically significant and negative impact on self-rated health and a positive impact on health service use in girls, boys, younger children (aged 4-12), and adolescents (aged 13-18). The findings are comparable in each model in both boys and girls. Using econometric methods, we have mitigated several confounding factors affecting the impact of obesity in childhood on health and health service use. Our findings suggest that obesity has severe consequences for health and health service use even among children. © Health Research and Educational Trust.

Diverse task scheduling for individualized requirements in cloud manufacturing

NASA Astrophysics Data System (ADS)

Zhou, Longfei; Zhang, Lin; Zhao, Chun; Laili, Yuanjun; Xu, Lida

2018-03-01

Cloud manufacturing (CMfg) has emerged as a new manufacturing paradigm that provides ubiquitous, on-demand manufacturing services to customers through network and CMfg platforms. In CMfg system, task scheduling as an important means of finding suitable services for specific manufacturing tasks plays a key role in enhancing the system performance. Customers' requirements in CMfg are highly individualized, which leads to diverse manufacturing tasks in terms of execution flows and users' preferences. We focus on diverse manufacturing tasks and aim to address their scheduling issue in CMfg. First of all, a mathematical model of task scheduling is built based on analysis of the scheduling process in CMfg. To solve this scheduling problem, we propose a scheduling method aiming for diverse tasks, which enables each service demander to obtain desired manufacturing services. The candidate service sets are generated according to subtask directed graphs. An improved genetic algorithm is applied to searching for optimal task scheduling solutions. The effectiveness of the scheduling method proposed is verified by a case study with individualized customers' requirements. The results indicate that the proposed task scheduling method is able to achieve better performance than some usual algorithms such as simulated annealing and pattern search.

Impact of direct-to-consumer advertising for hereditary breast cancer testing on genetic services at a managed care organization: a naturally-occurring experiment.

PubMed

Mouchawar, Judy; Hensley-Alford, Sharon; Laurion, Suzanne; Ellis, Jennifer; Kulchak-Rahm, Alanna; Finucane, Melissa L; Meenan, Richard; Axell, Lisen; Pollack, Rebecca; Ritzwoller, Debra

2005-03-01

To describe the impact of Myriad Genetics, Inc.'s direct-to-consumer advertising (DTC-ad) campaign on cancer genetic services within two Managed Care Organizations, Kaiser Permanente Colorado (KPCO), Denver, Colorado, where the ad campaign occurred, and Henry Ford Health System (HFHS), Detroit, Michigan, where there were no advertisements. The main outcome measures were the changes in number and pretest mutation probability of referrals approved for cancer genetic services at KPCO and HFHS during the campaign versus the year prior, and mutation probability of those undergoing testing. At KPCO, referrals increased 244% during the DTC-ad compared to the same time period a year earlier (P value<0.001). The proportion of referrals at high pretest probability of a mutation (10% or greater) dropped from 69% the previous year to 48% during the campaign (P value<0.001). There was no significant change in pretest mutation probability among women who underwent testing between the two time periods. HFHS reported no significant change between the two time periods for numbers or mutation probability of referrals, or for mutation probability of women tested. The DTC-ad caused significant increase in demand for cancer genetic services. In the face of potential future DTC-ad for inherited cancer risk, providers and payers need to consider the delivery of genetic services and genetic education for persons of all risk levels.

Genetic testing and services in Argentina.

PubMed

Penchaszadeh, Victor B

2013-07-01

Argentina is a middle-income country with a population of 40 million people. The structure of morbidity and mortality approaches that of more developed nations, with congenital and genetic disorders contributing significantly to ill health. The health delivery system is mixed, with public, social security, and private sectors which together spend close to 10 % of the GNP. Health subsectors are decentralized at provincial and municipality levels, where health planning and financing occurs, leading to fragmentation, inefficiency, and inequities. There are about 41 clinical genetic units in major medical centers in large cities, staffed by about 120 clinical geneticists, although only a few units are fully comprehensive genetic centers. Duplications, deficiencies, and poor regionalization and coordination affect health care delivery in general and in genetics. Funding for genetic services is limited due to poor understanding and lack of political will on the part of health authorities. Recently, however, there have been some interesting initiatives by national and provincial ministries of health to improve genetic services delivery by increasing coordination and regionalization. At the same time, training in genetics of health professionals is occurring, particularly in primary health care, and registries of congenital defects are being put in place. These developments are occurring in conjunction with a new awareness by health authorities of the importance of genetics in health care and research, a heightened activism of patient organizations demanding services for neglected conditions, as well as of women movements for the right to safe abortion.

Nutrigenomics and ethics interface: direct-to-consumer services and commercial aspects.

PubMed

Ries, Nola M; Castle, David

2008-12-01

A growing variety and number of genetic tests are advertised and sold directly to consumers (DTC) via the Internet, including nutrigenomic tests and associated products and services. Consumers have more access to genetic information about themselves, but access does not entail certainty about the implications of test results. Potential personal and public health harms and benefits are associated with DTC access to genetic testing services. Early policy responses to direct-to-consumer (DTC) genetic testing often involved calls for bans, and some jurisdictions prohibited DTC genetic tests. Recent policy responses by oversight bodies acknowledge expansion in the range of DTC tests available and suggest that a "one-size-fits-all" regulatory approach is not appropriate for all genetic tests. This review discusses ethical and regulatory aspects of DTC genetic testing, focusing particularly on nutrigenomic tests. We identify policy options for regulating DTC genetic tests, including full or partial prohibitions, enforcement of existing truth-in-advertising laws, and more comprehensive information disclosure about genetic tests. We advocate the latter option as an important means to improve transparency about current evidence on the strengths and limits of gene-disease associations and allow consumers to make informed purchasing decisions in the DTC marketplace.

International cooperation and networking in genetic health care provision: issues arising from the genetic services plan for the Emilia-Romagna region, Italy.

PubMed

Calzolari, E; Baroncini, A

2005-01-01

The aims of this report are to describe the genetic plan for Emilia-Romagna, a region in Italy, and to contribute to the international exchange of information on developing and applying policy frameworks to provide high-quality and comprehensive genetic health care in the publicly funded health systems. At the present time there is no national policy for genetic medicine in Italy, and only two regions, Emilia-Romagna and Liguria, have formally agreed to a strategic plan for health care in genetics. The current provision of genetic services in Emilia-Romagna is described focusing on the intra- and inter-organizational linkages to ensure a comprehensive system of coordinated activities. Strengths and implementation areas are highlighted. Points that must be solved within the regional or national context are the definition of the level of assistance required in genetic medicine, the formal professional recognition of the genetic counselor and the adjustment of the billing mechanisms to the complexities of clinical genetic services. Issues that need to be addressed at a wider level include full assessment of genetic tests before their introduction into clinical practice, networking to provide tests for the rarest genetic diseases, consensus on fundamental terminology and clinical and administrative data sets to promote a cohesive framework for the flow of information throughout the health care systems with respect to genetics. Copyright 2005 S. Karger AG, Basel.

Vignettes: diverse library staff offering diverse bioinformatics services*

PubMed Central

Osterbur, David L.; Alpi, Kristine; Canevari, Catharine; Corley, Pamela M.; Devare, Medha; Gaedeke, Nicola; Jacobs, Donna K.; Kirlew, Peter; Ohles, Janet A.; Vaughan, K.T.L.; Wang, Lili; Wu, Yongchun; Geer, Renata C.

2006-01-01

Objectives: The paper gives examples of the bioinformatics services provided in a variety of different libraries by librarians with a broad range of educational background and training. Methods: Two investigators sent an email inquiry to attendees of the “National Center for Biotechnology Information's (NCBI) Introduction to Molecular Biology Information Resources” or “NCBI Advanced Workshop for Bioinformatics Information Specialists (NAWBIS)” courses. The thirty-five-item questionnaire addressed areas such as educational background, library setting, types and numbers of users served, and bioinformatics training and support services provided. Answers were compiled into program vignettes. Discussion: The bioinformatics support services addressed in the paper are based in libraries with academic and clinical settings. Services have been established through different means: in collaboration with biology faculty as part of formal courses, through teaching workshops in the library, through one-on-one consultations, and by other methods. Librarians with backgrounds from art history to doctoral degrees in genetics have worked to establish these programs. Conclusion: Successful bioinformatics support programs can be established in libraries in a variety of different settings and by staff with a variety of different backgrounds and approaches. PMID:16888664

The Legal Past, Present and Future of Prenatal Genetic Testing: Professional Liability and Other Legal Challenges Affecting Patient Access to Services.

PubMed

Pergament, Deborah; Ilijic, Katie

2014-12-15

This chapter is an overview of the current status of the law in the United States regarding prenatal genetic testing with an emphasis on issues related to professional liability and other challenges affecting patient access to prenatal genetic testing. The chapter discusses the roles that federal regulations, promulgated by the Centers for Medicare and Medicaid Services (CMS), the Food and Drug Administration (FDA) and the Federal Trade Commission (FTC), play in the regulation of prenatal genetic tests. The chapter discusses tort litigation based on allegations of malpractice in the provision of prenatal genetic testing and how courts have analyzed issues related to causation, damages and mitigation of damages. The chapter provides reference information regarding how individual states address causes of action under the tort theories of wrongful birth and wrongful life. The chapter concludes with a discussion of future legal issues that may affect clinical prenatal genetic testing services arising from the continued expansion of prenatal genetic testing, legal restrictions on access to abortion and the potential development of embryonic treatments.

The Legal Past, Present and Future of Prenatal Genetic Testing: Professional Liability and Other Legal Challenges Affecting Patient Access to Services

PubMed Central

Pergament, Deborah; Ilijic, Katie

2014-01-01

This chapter is an overview of the current status of the law in the United States regarding prenatal genetic testing with an emphasis on issues related to professional liability and other challenges affecting patient access to prenatal genetic testing. The chapter discusses the roles that federal regulations, promulgated by the Centers for Medicare and Medicaid Services (CMS), the Food and Drug Administration (FDA) and the Federal Trade Commission (FTC), play in the regulation of prenatal genetic tests. The chapter discusses tort litigation based on allegations of malpractice in the provision of prenatal genetic testing and how courts have analyzed issues related to causation, damages and mitigation of damages. The chapter provides reference information regarding how individual states address causes of action under the tort theories of wrongful birth and wrongful life. The chapter concludes with a discussion of future legal issues that may affect clinical prenatal genetic testing services arising from the continued expansion of prenatal genetic testing, legal restrictions on access to abortion and the potential development of embryonic treatments. PMID:26237611

The Clinical Delivery of Pharmacogenetic Testing Services: A Proposed Partnership between Genetic Counselors and Pharmacists

PubMed Central

Mills, Rachel; Haga, Susanne B.

2013-01-01

One of the basic questions in the early uses of pharmacogenetic (PGx) testing revolves around the clinical delivery of testing. Because multiple health professionals may play a role in the delivery of PGx testing, various clinical delivery models have begun to be studied. We propose that a partnership between genetic counselors and pharmacists can assist clinicians in the delivery of comprehensive PGx services. Based on their expert knowledge of pharmacokinetics and pharmacodynamics, pharmacists can facilitate the appropriate application of PGx test results to adjust medication use as warranted and act as a liaison to the healthcare team recommending changes in medication based on test results and patient input. Genetic counselors are well-trained in genetics as well as risk communication and counseling methodology, but have limited knowledge of pharmaceuticals. The complementary knowledge and skill set supports the partnership between genetic counselors and pharmacists to provide effective PGx testing services. PMID:23746189

[Issues on business of genetic testing in near future].

PubMed

Takada, Fumio

2009-06-01

Since 1990's, a business condition that company sells genetic testing services directly to consumers without through medical facility, so called "direct-to-consumers (DTC) genetic testing", has risen. They provide genetic testing for obesity, disease susceptibility or paternity, etc. There are serious problems in this kind of business. Most of the providers do not make sales with face-to-face selling, and do through internet instead. They do not provide genetic counseling by certified genetic counselor or clinical geneticist. Most DTC genetic testing services for disease susceptibility or predispositions including obesity, lack scientific validity, clinical validity and clinical utility. And also including paternity genetic testing, they all have risks of ethical legal and social issues (ELSI) in genetic discrimination and/or eugenics. The specific problem in Japan is that the healthcare section of the government still has not paid attention and not taken seriously the requirement to deploy safety net.

Understanding the impact of genetic testing for inherited retinal dystrophy

PubMed Central

Combs, Ryan; McAllister, Marion; Payne, Katherine; Lowndes, Jo; Devery, Sophie; Webster, Andrew R; Downes, Susan M; Moore, Anthony T; Ramsden, Simon; Black, Graeme; Hall, Georgina

2013-01-01

The capability of genetic technologies is expanding rapidly in the field of inherited eye disease. New genetic testing approaches will deliver a step change in the ability to diagnose and extend the possibility of targeted treatments. However, evidence is lacking about the benefits of genetic testing to support service planning. Here, we report qualitative data about retinal dystrophy families' experiences of genetic testing in United Kingdom. The data were part of a wider study examining genetic eye service provision. Twenty interviewees from families in which a causative mutation had been identified by a genetic eye clinic were recruited to the study. Fourteen interviewees had chosen to have a genetic test and five had not; one was uncertain. In-depth telephone interviews were conducted allowing a thorough exploration of interviewees' views and experiences of the benefits of genetic counselling and testing. Transcripts were analysed using thematic analysis. Both affected and unaffected interviewees expressed mainly positive views about genetic testing, highlighting benefits such as diagnostic confirmation, risk information, and better preparation for the future. Negative consequences included the burden of knowledge, moral dilemmas around reproduction, and potential impact on insurance. The offer of genetic testing was often taken up, but was felt unnecessary in some cases. Interviewees in the study reported many benefits, suggesting genetic testing should be available to this patient group. The benefits and risks identified will inform future evaluation of models of service delivery. This research was part of a wider study exploring experiences of families with retinal dystrophy. PMID:23403902

Understanding the impact of genetic testing for inherited retinal dystrophy.

PubMed

Combs, Ryan; McAllister, Marion; Payne, Katherine; Lowndes, Jo; Devery, Sophie; Webster, Andrew R; Downes, Susan M; Moore, Anthony T; Ramsden, Simon; Black, Graeme; Hall, Georgina

2013-11-01

The capability of genetic technologies is expanding rapidly in the field of inherited eye disease. New genetic testing approaches will deliver a step change in the ability to diagnose and extend the possibility of targeted treatments. However, evidence is lacking about the benefits of genetic testing to support service planning. Here, we report qualitative data about retinal dystrophy families' experiences of genetic testing in United Kingdom. The data were part of a wider study examining genetic eye service provision. Twenty interviewees from families in which a causative mutation had been identified by a genetic eye clinic were recruited to the study. Fourteen interviewees had chosen to have a genetic test and five had not; one was uncertain. In-depth telephone interviews were conducted allowing a thorough exploration of interviewees' views and experiences of the benefits of genetic counselling and testing. Transcripts were analysed using thematic analysis. Both affected and unaffected interviewees expressed mainly positive views about genetic testing, highlighting benefits such as diagnostic confirmation, risk information, and better preparation for the future. Negative consequences included the burden of knowledge, moral dilemmas around reproduction, and potential impact on insurance. The offer of genetic testing was often taken up, but was felt unnecessary in some cases. Interviewees in the study reported many benefits, suggesting genetic testing should be available to this patient group. The benefits and risks identified will inform future evaluation of models of service delivery. This research was part of a wider study exploring experiences of families with retinal dystrophy.

Phyto-recurrent selection: a method for selecting Populus and Salix genotypes for environmental applications

Treesearch

Ronald S. Jr. Zalesny; Jill A. Zalesny

2010-01-01

Short rotation woody crops (SRWCs) research began in 1968 at the U.S. Forest Service, Northern Research Station, Institute for Applied Ecosystem Studies (IAES) in Rhinelander, Wisconsin, USA. Genetics, physiology, and silviculture were at the forefront of research priorities, and the IAES became a national and global leader in SRWCs research and development. Given the...

Genetic Counseling and Families of the Visually Impaired.

ERIC Educational Resources Information Center

Carpenter, Pat

1977-01-01

The value of genetic counseling for prospective parents with visual impairments is discussed. Work in genetic counseling is reviewed and the types of monitoring services available are explored. The development of genetics, and the kinds of genetic disorders, as well as the importance of genetic counseling, are described. (PHR)

You're a What? Genetic Counselor

ERIC Educational Resources Information Center

Mullins, John

2011-01-01

When it first emerged about 50 years ago, genetic counseling focused primarily on prenatal testing to detect genetic conditions. But counseling services have evolved to keep pace with a greater knowledge of genetics and wider application of genetic diagnostic testing. Today, there are several types of genetic counselors, and their expertise covers…

Health-related direct-to-consumer genetic testing: a review of companies' policies with regard to genetic testing in minors.

PubMed

Borry, Pascal; Howard, Heidi C; Sénécal, Karine; Avard, Denise

2010-03-01

More and more companies are advertising and selling genetic tests directly to consumers. Considering the ethical, legal, and psychological concerns surrounding genetic testing in minors, a study of companies' websites was performed in order to describe and analyze their policies with respect to this issue. Of the 29 companies analyzed, 13 did not provide any information about this matter, eight companies allowed genetic testing upon parental request, four companies stated that their website is not directed to children under 18 years, and four companies suggested that in order to be tested, applicants should have reached the age of legal majority. If private companies offer genetic tests which are also offered in a clinical setting, can they be expected to adhere to the existing clinical guidelines with regard to these tests? If so, a certain ambiguity exists. Many companies are emphasizing in their disclaimers that their services are not medical services and should not be used as a basis for making medical decisions. Nonetheless, it remains debatable whether genetic testing in minors would be appropriate in this context. In line with the Advisory Committee on Genetic Testing, the Human Genetics Commission addressed the problem of non-consensual testing and recommended not to supply genetic testing services directly to those under the age of 16 or to those not able to make a competent decision regarding testing.

Alternate Service Delivery Models in Cancer Genetic Counseling: A Mini-Review.

PubMed

Buchanan, Adam Hudson; Rahm, Alanna Kulchak; Williams, Janet L

2016-01-01

Demand for cancer genetic counseling has grown rapidly in recent years as germline genomic information has become increasingly incorporated into cancer care, and the field has entered the public consciousness through high-profile celebrity publications. Increased demand and existing variability in the availability of trained cancer genetics clinicians place a priority on developing and evaluating alternate service delivery models for genetic counseling. This mini-review summarizes the state of science regarding service delivery models, such as telephone counseling, telegenetics, and group counseling. Research on comparative effectiveness of these models in traditional individual, in-person genetic counseling has been promising for improving access to care in a manner acceptable to patients. Yet, it has not fully evaluated the short- and long-term patient- and system-level outcomes that will help answer the question of whether these models achieve the same beneficial psychosocial and behavioral outcomes as traditional cancer genetic counseling. We propose a research agenda focused on comparative effectiveness of available service delivery models and how to match models to patients and practice settings. Only through this rigorous research can clinicians and systems find the optimal balance of clinical quality, ready and secure access to care, and financial sustainability. Such research will be integral to achieving the promise of genomic medicine in oncology.

Next-generation genotype imputation service and methods.

PubMed

Das, Sayantan; Forer, Lukas; Schönherr, Sebastian; Sidore, Carlo; Locke, Adam E; Kwong, Alan; Vrieze, Scott I; Chew, Emily Y; Levy, Shawn; McGue, Matt; Schlessinger, David; Stambolian, Dwight; Loh, Po-Ru; Iacono, William G; Swaroop, Anand; Scott, Laura J; Cucca, Francesco; Kronenberg, Florian; Boehnke, Michael; Abecasis, Gonçalo R; Fuchsberger, Christian

2016-10-01

Genotype imputation is a key component of genetic association studies, where it increases power, facilitates meta-analysis, and aids interpretation of signals. Genotype imputation is computationally demanding and, with current tools, typically requires access to a high-performance computing cluster and to a reference panel of sequenced genomes. Here we describe improvements to imputation machinery that reduce computational requirements by more than an order of magnitude with no loss of accuracy in comparison to standard imputation tools. We also describe a new web-based service for imputation that facilitates access to new reference panels and greatly improves user experience and productivity.

Why do women not return family history forms when referred to breast cancer genetics services? A mixed-method study.

PubMed

Hanning, Kirstie A; Steel, Michael; Goudie, David; McLeish, Lorna; Dunlop, Jackie; Myring, Jessica; Sullivan, Frank; Berg, Jonathan; Humphris, Gerry; Ozakinci, Gozde

2015-10-01

Personal and family data forms, completed by women referred to breast cancer genetics clinics, are valuable tools for verification and extension of family history, crucial steps in accurate risk evaluation. A significant minority of women do not complete and return these forms, despite reminders, even when completion is a pre-requisite for a clinic appointment. To facilitate access of women at increased familial risk of breast cancer to screening and counselling services by investigating reasons for non-return of the forms. Based on a single regional 'breast cancer family' service in the UK, Analysis of quantitative data comparing women who did not return forms (n = 55) with those who had done so (n = 59), together with qualitative evaluation of potential barriers to form-completion through semi-structured telephone interviews with a random subset of 'non-returners' (n = 23). Non-returners have higher proportions of the very young (below the age at which surveillance could be offered) and of women from lower social deprivation categories. Interviews revealed that the majority of non-returners are anxious, rather than unconcerned about their breast cancer risk and circumstances and attitudes contributed to non-compliance. Twenty-one participants confirmed that they would welcome an appointment at a 'breast cancer family' clinic, but nine did not attend for the appointment. They were significantly younger than those who attend, but were not at lower familial risk. Many women who fail to complete and return a family history form would benefit from risk assessment and genetic counselling. Several steps are suggested that might help them access the relevant services. © 2014 John Wiley & Sons Ltd.

Exceptional know how? Possible pitfalls of routinising genetic services.

PubMed

Schmitz, Dagmar

2010-09-01

Genetic testing practices are increasingly advancing clinical medicine. This process of 'routinisation of genetics' has been conceived as a medical and ethical problem mainly because of the assumption that non-geneticists might lack the necessary skills to provide these services. In particular, the relevant theoretical knowledge in clinical genetics is viewed as insufficient in general practitioners and physicians from other specialities. Empirical findings seem to indicate significant variations not only in theoretical but also in practical knowledge between geneticists and non-geneticists. Several fields of practical knowledge-regarding for example the focus of clinical action, the relevance of therapeutic action or the normative framework-can be identified that are or could be areas of conflict when the routinisation of genetic services proceeds. From an ethical point of view, these variations in know how and background are especially relevant whenever the respective genetic service is concerned with medical information of exceptional normative quality, such as, for example, in prenatal genetic screening and diagnosis of untreatable conditions. Here, the clinically acquired practical knowledge of the non-geneticist could be particularly misleading insofar as there is no relation to therapy and-in a narrow sense-no clinical utility to be assessed. Non-geneticists need a chance to acquire the relevant theoretical and practical knowledge in order to understand and fulfil their own duties in the respective situations in a way that secures the important rights at stake of their patients and clients.

Barriers and Facilitating Factors for Implementation of Genetic Services: A Public Health Perspective.

PubMed

Cornel, Martina C; van El, Carla G

2017-01-01

More than 15 years after the publication of the sequence of the human genome, the resulting changes in health care have been modest. At the same time, some promising examples in genetic services become visible, which contribute to the prevention of chronic disease such as cancer. These are discussed to identify barriers and facilitating factors for the implementation of genetic services. Examples from oncogenetics illustrate a high risk of serious disease where prevention is possible, especially in relatives. Some 5% of breast cancers and colorectal cancers are attributable to an inherited predisposition. These cancers occur at a relatively young age. DNA testing of relatives of affected patients may facilitate primary and secondary prevention. Training of non-genetic health care workers and health technology assessment are needed, as is translational research in terms of bringing genomics to health care practice while monitoring and evaluating. Stratified screening programs could include cascade screening and risk assessment based on family history. New roles and responsibilities will emerge. A clear assessment of the values implied is needed allowing to balance the pros and cons of interventions to further the responsible innovation of genetic services.

Legislation on direct-to-consumer genetic testing in seven European countries.

PubMed

Borry, Pascal; van Hellemondt, Rachel E; Sprumont, Dominique; Jales, Camilla Fittipaldi Duarte; Rial-Sebbag, Emmanuelle; Spranger, Tade Matthias; Curren, Liam; Kaye, Jane; Nys, Herman; Howard, Heidi

2012-07-01

An increasing number of private companies are now offering direct-to-consumer (DTC) genetic testing services. Although a lot of attention has been devoted to the regulatory framework of DTC genetic testing services in the USA, only limited information about the regulatory framework in Europe is available. We will report on the situation with regard to the national legislation on DTC genetic testing in seven European countries (Belgium, the Netherlands, Switzerland, Portugal, France, Germany, the United Kingdom). The paper will address whether these countries have legislation that specifically address the issue of DTC genetic testing or have relevant laws that is pertinent to the regulatory control of these services in their countries. The findings show that France, Germany, Portugal and Switzerland have specific legislation that defines that genetic tests can only be carried out by a medical doctor after the provision of sufficient information concerning the nature, meaning and consequences of the genetic test and after the consent of the person concerned. In the Netherlands, some DTC genetic tests could fall under legislation that provides the Minister the right to refuse to provide a license to operate if a test is scientifically unsound, not in accordance with the professional medical practice standards or if the expected benefit is not in balance with the (potential) health risks. Belgium and the United Kingdom allow the provision of DTC genetic tests.

Legislation on direct-to-consumer genetic testing in seven European countries

PubMed Central

Borry, Pascal; van Hellemondt, Rachel E; Sprumont, Dominique; Jales, Camilla Fittipaldi Duarte; Rial-Sebbag, Emmanuelle; Spranger, Tade Matthias; Curren, Liam; Kaye, Jane; Nys, Herman; Howard, Heidi

2012-01-01

An increasing number of private companies are now offering direct-to-consumer (DTC) genetic testing services. Although a lot of attention has been devoted to the regulatory framework of DTC genetic testing services in the USA, only limited information about the regulatory framework in Europe is available. We will report on the situation with regard to the national legislation on DTC genetic testing in seven European countries (Belgium, the Netherlands, Switzerland, Portugal, France, Germany, the United Kingdom). The paper will address whether these countries have legislation that specifically address the issue of DTC genetic testing or have relevant laws that is pertinent to the regulatory control of these services in their countries. The findings show that France, Germany, Portugal and Switzerland have specific legislation that defines that genetic tests can only be carried out by a medical doctor after the provision of sufficient information concerning the nature, meaning and consequences of the genetic test and after the consent of the person concerned. In the Netherlands, some DTC genetic tests could fall under legislation that provides the Minister the right to refuse to provide a license to operate if a test is scientifically unsound, not in accordance with the professional medical practice standards or if the expected benefit is not in balance with the (potential) health risks. Belgium and the United Kingdom allow the provision of DTC genetic tests. PMID:22274578

Attitudes towards Social Networking and Sharing Behaviors among Consumers of Direct-to-Consumer Personal Genomics

PubMed Central

Lee, Sandra Soo-Jin; Vernez, Simone L.; Ormond, K.E.; Granovetter, Mark

2013-01-01

Little is known about how consumers of direct-to-consumer personal genetic services share personal genetic risk information. In an age of ubiquitous online networking and rapid development of social networking tools, understanding how consumers share personal genetic risk assessments is critical in the development of appropriate and effective policies. This exploratory study investigates how consumers share personal genetic information and attitudes towards social networking behaviors. Methods: Adult participants aged 23 to 72 years old who purchased direct-to-consumer genetic testing from a personal genomics company were administered a web-based survey regarding their sharing activities and social networking behaviors related to their personal genetic test results. Results: 80 participants completed the survey; of those, 45% shared results on Facebook and 50.9% reported meeting or reconnecting with more than 10 other individuals through the sharing of their personal genetic information. For help interpreting test results, 70.4% turned to Internet websites and online sources, compared to 22.7% who consulted their healthcare providers. Amongst participants, 51.8% reported that they believe the privacy of their personal genetic information would be breached in the future. Conclusion: Consumers actively utilize online social networking tools to help them share and interpret their personal genetic information. These findings suggest a need for careful consideration of policy recommendations in light of the current ambiguity of regulation and oversight of consumer initiated sharing activities. PMID:25562728

A method for the dynamic management of genetic variability in dairy cattle

PubMed Central

Colleau, Jean-Jacques; Moureaux, Sophie; Briend, Michèle; Bechu, Jérôme

2004-01-01

According to the general approach developed in this paper, dynamic management of genetic variability in selected populations of dairy cattle is carried out for three simultaneous purposes: procreation of young bulls to be further progeny-tested, use of service bulls already selected and approval of recently progeny-tested bulls for use. At each step, the objective is to minimize the average pairwise relationship coefficient in the future population born from programmed matings and the existing population. As a common constraint, the average estimated breeding value of the new population, for a selection goal including many important traits, is set to a desired value. For the procreation of young bulls, breeding costs are additionally constrained. Optimization is fully analytical and directly considers matings. Corresponding algorithms are presented in detail. The efficiency of these procedures was tested on the current Norman population. Comparisons between optimized and real matings, clearly showed that optimization would have saved substantial genetic variability without reducing short-term genetic gains. PMID:15231230

Direct-to-consumer genetic testing: perceptions, problems, and policy responses.

PubMed

Caulfield, Timothy; McGuire, Amy L

2012-01-01

Direct-to-consumer (DTC) genetic testing has attracted a great amount of attention from policy makers, the scientific community, professional groups, and the media. Although it is unclear what the public demand is for these services, there does appear to be public interest in personal genetic risk information. As a result, many commentators have raised a variety of social, ethical, and regulatory issues associated with this emerging industry, including privacy issues, ensuring that DTC companies provide accurate information about the risks and limitations of their services, the possible adverse impact of DTC genetic testing on healthcare systems, and concern about how individuals may interpret and react to genetic risk information.

The role and impact of personal faith and religion among genetic service providers.

PubMed

Geller, Gail; Micco, Ellyn; Silver, Rachel J; Kolodner, Ken; Bernhardt, Barbara A

2009-02-15

This paper describes the impact of genetic service providers' personal faith and religious values on their experiences interacting with colleagues and patients. We surveyed 480 clinical geneticists (MDs), genetic counselors (GCs), and genetic nurses randomly selected from their professional associations, and then interviewed a sample of survey respondents. Outcomes included religiosity, coping with distress through spiritual beliefs, and personal value conflicts (PVCs). Two hundred fourteen providers completed the survey out of an estimated 348 eligible (61% response rate). Importance attributed to regular attendance at religious services ranged from 39% (not at all important) to 27% (very important). Reliance on religion and spiritual beliefs as a source of comfort ranged from 48% (never) to 33% (sometimes or often). Religiosity varied by discipline with 58% of nurses thinking regular attendance at religious services was moderately or very important as compared to 47% of GCs and 30% of MDs (P = 0.006). Ten percent of respondents had difficulty reconciling their own faith with being a genetics professional, 14% felt the need to hide their own faith from their colleagues or patients, 7% thought their professional stance was not consistent with their personal values, and 4% felt ostracized by the genetics community because of their personal beliefs. The experience of such PVCs was positively correlated with religiosity (r = 0.35; P < 0.0001). GCs were more likely to experience PVCs than MDs or nurses (P = 0.013). Data from the interviews (N = 54) support these findings. A significant minority of genetic service providers are religiously observant and rely on their religious values to cope with distress. These individuals often experience difficulty reconciling their religious beliefs with the expectations of their profession, and sharing their beliefs with their colleagues and patients. Efforts should be made to prevent or reduce the secrecy surrounding personal faith and religion among genetics professionals. (c) 2009 Wiley-Liss, Inc.

National Plant Germplasm System: Critical Role of Customer Service

USDA-ARS?s Scientific Manuscript database

The National Plant Germplasm System (NPGS) conserves plant genetic resources, not only for use by future generations, but for immediate use by scientists and educators around the world. With a great deal of interaction between genebank curators and users of plant genetic resources, customer service...

Parents' perceptions of autism spectrum disorder etiology and recurrence risk and effects of their perceptions on family planning: Recommendations for genetic counselors.

PubMed

Selkirk, Christina G; McCarthy Veach, Patricia; Lian, Fengqin; Schimmenti, Lisa; LeRoy, Bonnie S

2009-10-01

Knowledge about the etiology of Autism Spectrum Disorders (ASDs) is increasing, but causes remain elusive for most cases. Genetic counselors are positioned to help families that have children with ASDs despite uncertainty regarding etiology. To determine how genetic counselors might best provide services, an anonymous survey was conducted with 255 parents whose children were diagnosed on the autism spectrum. Questions concerned: 1) their perceptions of ASD cause(s) and 2) recurrence risk, 3) whether perceived risk affected family planning decisions, 4) whether parents had received genetic services, and 5) how genetic counselors might assist families. The most prevalent perceived cause was genetic influences (72.6%). Most parents' recurrence risk perceptions were inaccurately high and significantly affected family planning. Only 10% had seen a genetic professional related to an ASD. Parents provided several suggestions for genetic counselor best practices. Findings indicate the importance of genetic counselor awareness of parent perceptions in order to best help families who have children with ASDs.

Addressing key issues in the consanguinity-related risk of autosomal recessive disorders in consanguineous communities: lessons from a qualitative study of British Pakistanis.

PubMed

Darr, A; Small, N; Ahmad, W I U; Atkin, K; Corry, P; Modell, B

2016-01-01

Currently, there is no consensus regarding services required to help families with consanguineous marriages manage their increased genetic reproductive risk. Genetic services for communities with a preference for consanguineous marriage in the UK remain patchy, often poor. Receiving two disparate explanations of the cause of recessive disorders (cousin marriage and recessive inheritance) leads to confusion among families. Further, the realisation that couples in non-consanguineous relationships have affected children leads to mistrust of professional advice. British Pakistani families at-risk for recessive disorders lack an understanding of recessive disorders and their inheritance. Such an understanding is empowering and can be shared within the extended family to enable informed choice. In a three-site qualitative study of British Pakistanis, we explored family and health professional perspectives on recessively inherited conditions. Our findings suggest, firstly, that family networks hold strong potential for cascading genetic information, making the adoption of a family-centred approach an efficient strategy for this community. However, this is dependent on provision of high-quality and timely information from health care providers. Secondly, families' experience was of ill-coordinated and time-starved services, with few having access to specialist provision from Regional Genetics Services; these perspectives were consistent with health professionals' views of services. Thirdly, we confirm previous findings that genetic information is difficult to communicate and comprehend, further complicated by the need to communicate the relationship between cousin marriage and recessive disorders. A communication tool we developed and piloted is described and offered as a useful resource for communicating complex genetic information.

Evaluating Genetic Counseling for Family Members of Individuals With Schizophrenia in the Molecular Age

PubMed Central

Bassett, Anne S.

2014-01-01

Background: Myths and concerns about the extent and meaning of genetic risk in schizophrenia may contribute to significant stigma and burden for families. Genetic counseling has long been proposed to be a potentially informative and therapeutic intervention for schizophrenia. Surprisingly, however, available data are limited. We evaluated a contemporary genetic counseling protocol for use in a community mental health-care setting by non–genetics professionals. Methods: We used a pre-post study design with longitudinal follow-up to assess the impact of genetic counseling on family members of individuals with schizophrenia, where molecular testing had revealed no known clinically relevant genetic risk variant. We assessed the outcome using multiple measures, including standard items and scales used to evaluate genetic counseling for other complex diseases. Results: Of the 122 family members approached, 78 (63.9%) actively expressed an interest in the study. Participants (n = 52) on average overestimated the risk of familial recurrence at baseline, and demonstrated a significant improvement in this estimate postintervention (P < .0001). This change was associated with an enduring decrease in concern about recurrence (P = .0003). Significant and lasting benefits were observed in other key areas, including increased knowledge (P < .0001) and a decreased sense of stigma (P = .0047). Endorsement of the need for genetic counseling was high (96.1%). Conclusions: These results provide initial evidence of the efficacy of schizophrenia genetic counseling for families, even in the absence of individually relevant genetic test results or professional genetics services. The findings support the integration of contemporary genetic counseling for families into the general management of schizophrenia in the community. PMID:23104866

About Genetic Counselors

MedlinePlus

... While most genetic counseling is provided in-person, access to genetic counselors is expanding, and many now provide consultation services by telephone, videoconferencing , and the internet, or offer education and support in group settings. ...

Consensus for genes to be included on cancer panel tests offered by UK genetics services: guidelines of the UK Cancer Genetics Group.

PubMed

Taylor, Amy; Brady, Angela F; Frayling, Ian M; Hanson, Helen; Tischkowitz, Marc; Turnbull, Clare; Side, Lucy

2018-04-16

Genetic testing for hereditary cancer predisposition has evolved rapidly in recent years with the discovery of new genes, but there is much debate over the clinical utility of testing genes for which there are currently limited data regarding the degree of associated cancer risk. To address the discrepancies that have arisen in the provision of these tests across the UK, the UK Cancer Genetics Group facilitated a 1-day workshop with representation from the majority of National Health Service (NHS) clinical genetics services. Using a preworkshop survey followed by focused discussion of genes without prior majority agreement for inclusion, we achieved consensus for panels of cancer genes with sufficient evidence for clinical utility, to be adopted by all NHS genetics services. To support consistency in the delivery of these tests and advice given to families across the country, we also developed management proposals for individuals who are found to have pathogenic mutations in these genes. However, we fully acknowledge that the decision regarding what test is most appropriate for an individual family rests with the clinician, and will depend on factors including specific phenotypic features and the family structure. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

A Report on Ten Asia Pacific Countries on Current Status and Future Directions of the Genetic Counseling Profession: The Establishment of the Professional Society of Genetic Counselors in Asia.

PubMed

Laurino, Mercy Y; Leppig, Kathleen A; Abad, Peter James; Cham, Breana; Chu, Yoyo Wing Yiu; Kejriwal, Saahil; Lee, Juliana M H; Sternen, Darci L; Thompson, Jennifer K; Burgess, Matthew J; Chien, Shu; Elackatt, Niby; Lim, Jiin Ying; Sura, Thanyachai; Faradz, Sultana; Padilla, Carmencita; Paz, Eva Cutiongco de-la; Nauphar, Donny; Nguyen, Khanh Ngoc; Zayts, Olya; Vu, Dung Chi; Thong, Meow-Keong

2018-02-01

The Professional Society of Genetic Counselors in Asia (PSGCA) was recently established as a special interest group of the Asia Pacific Society of Human Genetics. Fostering partnerships across the globe, the PSGCA's vision is to be the lead organization that advances and mainstreams the genetic counseling profession in Asia and ensures individuals have access to genetic counseling services. Its mission is to promote quality genetic counseling services in the region by enhancing practice and curricular standards, research and continuing education. The PSGCA was formally launched during the Genetic Counseling Pre-Conference Workshop held at the 11th Asia-Pacific Conference on Human Genetics in Hanoi, Viet Nam, September 16, 2015. The pre-conference workshop provided an opportunity for medical geneticists and genetic counselors from across 10 Asia Pacific countries to learn about the varied genetic counseling practices and strategies for genetic counseling training. This paper provides an overview of the current status and challenges in these countries, and proposed course of unified actions for the future of the genetic counseling profession.

78 FR 37201 - Pioneer Hi-Bred International, Inc.; Determination of Nonregulated Status of Maize Genetically...

Federal Register 2010, 2011, 2012, 2013, 2014

2013-06-20

... DEPARTMENT OF AGRICULTURE Animal and Plant Health Inspection Service [Docket No. APHIS-2012-0026] Pioneer Hi-Bred International, Inc.; Determination of Nonregulated Status of Maize Genetically Engineered for Herbicide and Insect Resistance AGENCY: Animal and Plant Health Inspection Service, USDA. ACTION...

75 FR 32356 - Pioneer Hi-Bred International, Inc.; Determination of Nonregulated Status for Genetically...

Federal Register 2010, 2011, 2012, 2013, 2014

2010-06-08

... DEPARTMENT OF AGRICULTURE Animal and Plant Health Inspection Service [Docket No. APHIS-2007-0156] Pioneer Hi-Bred International, Inc.; Determination of Nonregulated Status for Genetically Engineered High-oleic Soybeans AGENCY: Animal and Plant Health Inspection Service, USDA. ACTION: Notice. SUMMARY: We are...

USDA forest service southern region – It’s all about GRITS

Treesearch

Barbara S. Crane; Kevin M. Potter

2017-01-01

Genetic resource management programs across the U.S. Department of Agriculture Forest Service (USDA FS) play a key role in supporting successful land management activities. The programs are responsible for developing and providing plant material for revegetation, seed management guidelines, emergency fire recovery assistance, genetic conservation strategies, climate...

76 FR 37767 - Pioneer Hi-Bred International, Inc.; Determination of Nonregulated Status for Corn Genetically...

Federal Register 2010, 2011, 2012, 2013, 2014

2011-06-28

... DEPARTMENT OF AGRICULTURE Animal and Plant Health Inspection Service [Docket No. APHIS-2010-0041] Pioneer Hi-Bred International, Inc.; Determination of Nonregulated Status for Corn Genetically Engineered To Produce Male Sterile/Female Inbred Plants AGENCY: Animal and Plant Health Inspection Service, USDA...

Forest service access to and use of the Germplasm Information Network (GRIN-Global) database and security backup at the National Laboratory for Genetic Resource Preservation

Treesearch

B. Loth; R.P. Karrfalt

2017-01-01

The U.S. Department of Agriculture Forest Service (USDA FS) National Seed Laboratory (NSL) began long term seed storage for genetic conservation, in 2005, for USDA FS units and cooperators. This program requires secure storage of both seeds and the data documenting the identification of the seeds. The Agricultural Research Service (ARS) has provided both of these...

Reprogenetics, Genetic Tools and Reproductive Risk: Attitudes and Understanding Among Ethnic Groups in Israel.

PubMed

Simonstein, Frida; Mashiach-Eizenberg, Michal

2016-02-01

The present study investigated a possible relationship between the attitudes toward genetic technologies and the understanding of genetics, reproduction, and reproductive risk among Israeli Arabs and Israeli Jews. The study included 203 respondents, who answered a structured self-report questionnaire. They were recruited using a snowball method, which increased the participation of Israeli Arabs in the sample, although the sample was not representative of the Israeli population as a whole (there were more Arabs and fewer men). The respondents in this study expressed a positive attitude toward genetic technologies, but were less in favor of using genetic tools for non-medical purposes. Respondents of both groups were not knowledgeable of genetics; however, they scored higher on the items related to reproductive risk, which suggests that some awareness about genetic risk exists in both sectors of the Israeli population. Nevertheless, Israeli Arabs were less positive than Israeli Jews regarding the application of genetic tools. Moreover, although an understanding of genetics correlated positively with the attitude among Arabs, it did not affect the attitude of Jews, who remained very positive, regardless of their level of understanding. This result suggests that other social and cultural factors, besides understanding, might be at work among these two major ethnic sectors. Further studies that integrate educational, social, and cultural aspects among ethnic sectors of the population are required to improve health services and genetic counselling in Israel and in other countries.

Access to genetic testing and genetic counseling in vulnerable populations: the d/Deaf and hard of hearing population.

PubMed

Cooke-Hubley, Sandra; Maddalena, Victor

2011-09-01

Genetic testing holds great potential for preventing morbidities and mortalities for a number of diseases through early detection and effective intervention. As the number of genetic tests expand, so will public demand for these services. Therefore, it is essential to evaluate access to genetic testing and genetic services to ensure that all Canadians, including vulnerable groups, have equitable access to all forms of health care, in keeping with the mandate of the Canadian Health Act. The purpose of this paper is to examine the literature to determine if and how the Deaf community, as a vulnerable group, is at an increased risk of inequitable access to genetic services in Canada and to discuss how those who are deaf and hard of hearing are subject to the same risks. First, we define vulnerability and describe why the Deaf community, as a social group, can be considered a vulnerable group, followed by a description of the benefits of genetic testing. Second, we describe the barriers to accessing genetic testing, and how the d/Deaf and hard of hearing population experience additional barriers. Third, we examine the difficulties incorporating genetic testing into medical practice, and how this creates additional barriers to those already at risk. Finally, we discuss the steps necessary to promote equitable access to genetic testing among the d/Deaf and hard of hearing populations within Canada, and provide recommendations for further research in this topic area. Lastly, we comment on how barriers to genetic testing vary among the d/Deaf and hard of hearing is dependent upon the type of health care system available (whether public or private).

Are we ready for genetic testing for primary open-angle glaucoma?

PubMed

Khawaja, Anthony P; Viswanathan, Ananth C

2018-05-01

Following a dramatic reduction in the cost of genotyping technology in recent years, there have been significant advances in the understanding of the genetic basis of glaucoma. Glaucoma patients represent around a quarter of all outpatient activity in the UK hospital eye service and are a huge burden for the National Health Service. A potential benefit of genetic testing is personalised glaucoma management, allowing direction of our limited healthcare resources to the glaucoma patients who most need it. Our review aims to summarise recent discoveries in the field of glaucoma genetics and to discuss their potential clinical utility. While genome-wide association studies have now identified over ten genes associated with primary open-angle glaucoma (POAG), individually, variants in these genes are not predictive of POAG in populations. There are data suggesting some of these POAG variants are associated with conversion from ocular hypertension to POAG and visual field progression among POAG patients. However, these studies have not been replicated yet and such genetic testing is not currently justified in clinical care. In contrast, genetic testing for inherited early-onset disease in relatives of POAG patients with a known genetic mutation is of clear benefit; this can support either regular review to commence early treatment when the disease develops, or discharge from ophthalmology services of relatives who do not carry the mutation. Genetic testing for POAG at a population level is not currently justified.

Rural-urban and racial-ethnic differences in awareness of direct-to-consumer genetic testing.

PubMed

Salloum, Ramzi G; George, Thomas J; Silver, Natalie; Markham, Merry-Jennifer; Hall, Jaclyn M; Guo, Yi; Bian, Jiang; Shenkman, Elizabeth A

2018-02-23

Access to direct-to-consumer genetic testing services has increased in recent years. However, disparities in knowledge and awareness of these services are not well documented. We examined awareness of genetic testing services by rural/urban and racial/ethnic status. Analyses were conducted using pooled cross-sectional data from 4 waves (2011-2014) of the Health Information National Trends Survey (HINTS). Descriptive statistics compared sample characteristics and information sources by rural/urban residence. Logistic regression was used to examine the relationship between geography, racial/ethnic status, and awareness of genetic testing, controlling for sociodemographic characteristics. Of 13,749 respondents, 16.7% resided in rural areas, 13.8% were Hispanic, and 10.1% were non-Hispanic black. Rural residents were less likely than urban residents to report awareness of genetic testing (OR = 0.74, 95% CI = 0.63-0.87). Compared with non-Hispanic whites, racial/ethnic minorities were less likely to be aware of genetic testing: Hispanic (OR = 0.68, 95% CI = 0.56-0.82); and non-Hispanic black (OR = 0.74, 95% CI = 0.61-0.90). Rural-urban and racial-ethnic differences exist in awareness of direct-to-consumer genetic testing. These differences may translate into disparities in the uptake of genetic testing, health behavior change, and disease prevention through precision and personalized medicine.

Genetic Evaluation of Children with Global Developmental Delay--Current Status of Network Systems in Taiwan.

PubMed

Foo, Yong-Lin; Chow, Julie Chi; Lai, Ming-Chi; Tsai, Wen-Hui; Tung, Li-Chen; Kuo, Mei-Chin; Lin, Shio-Jean

2015-08-01

This review article aims to introduce the screening and referral network of genetic evaluation for children with developmental delay in Taiwan. For these children, integrated systems provide services from the medical, educational, and social welfare sectors. All cities and counties in Taiwan have established a network for screening, detection, referral, evaluation, and intervention services. Increased awareness improves early detection and intervention. There remains a gap between supply and demand, especially with regard to financial resources and professional manpower. Genetic etiology has a major role in prenatal causes of developmental delay. A summary of reports on some related genetic disorders in the Taiwanese population is included in this review. Genetic diagnosis allows counseling with regard to recurrence risk and prevention. Networking with neonatal screening, laboratory diagnosis, genetic counseling, and orphan drugs logistics systems can provide effective treatment for patients. In Taiwan, several laboratories provide genetic tests for clinical diagnosis. Accessibility to advanced expensive tests such as gene chips or whole exome sequencing is limited because of funding problems; however, the service system in Taiwan can still operate in a relatively cost-effective manner. This experience in Taiwan may serve as a reference for other countries. Copyright © 2014. Published by Elsevier B.V.

A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone.

PubMed

Christensen, Kurt D; Uhlmann, Wendy R; Roberts, J Scott; Linnenbringer, Erin; Whitehouse, Peter J; Royal, Charmaine D M; Obisesan, Thomas O; Cupples, L Adrienne; Butson, Melissa B; Fasaye, Grace-Ann; Hiraki, Susan; Chen, Clara A; Siebert, Uwe; Cook-Deegan, Robert; Green, Robert C

2018-01-01

PurposeTelephone disclosure of genetic test results can improve access to services. To date, studies of its impact have focused on return of Mendelian risk information, principally hereditary cancer syndromes.MethodsIn a multisite trial of Alzheimer disease genetic risk disclosure, asymptomatic adults were randomized to receive test results in person or via telephone. Primary analyses examined patient outcomes 12 months after disclosure.ResultsData from 257 participants showed that telephone disclosure occurred 7.4 days sooner and was 30% shorter, on average, than in-person disclosure (both P < 0.001). Anxiety and depression scores were well below cutoffs for clinical concern across protocols. Comparing telephone and in-person disclosure protocols, 99% confidence intervals of mean differences were within noninferiority margins on scales assessing anxiety, depression, and test-related distress, but inconclusive about positive impact. No differences were observed on measures of recall and subjective impact. Subanalyses supported noninferiority on all outcomes among apolipoprotein E (APOE) ɛ4-negative participants. Subanalyses were inconclusive for APOE ɛ4-positive participants, although mean anxiety and depression scores were still well below cutoffs for clinical concern.ConclusionTelephone disclosure of APOE results and risk for Alzheimer disease is generally safe and helps providers meet demands for services, even when results identify an increased risk for disease.

Good laboratory practices for biochemical genetic testing and newborn screening for inherited metabolic disorders.

PubMed

2012-04-06

Biochemical genetic testing and newborn screening are essential laboratory services for the screening, detection, diagnosis, and monitoring of inborn errors of metabolism or inherited metabolic disorders. Under the Clinical Laboratory Improvement Amendments of 1988 (CLIA) regulations, laboratory testing is categorized on the basis of the level of testing complexity as either waived (i.e., from routine regulatory oversight) or nonwaived testing (which includes tests of moderate and high complexity). Laboratories that perform biochemical genetic testing are required by CLIA regulations to meet the general quality systems requirements for nonwaived testing and the personnel requirements for high-complexity testing. Laboratories that perform public health newborn screening are subject to the same CLIA regulations and applicable state requirements. As the number of inherited metabolic diseases that are included in state-based newborn screening programs continues to increase, ensuring the quality of performance and delivery of testing services remains a continuous challenge not only for public health laboratories and other newborn screening facilities but also for biochemical genetic testing laboratories. To help ensure the quality of laboratory testing, CDC collaborated with the Centers for Medicare & Medicaid Services, the Food and Drug Administration, the Health Resources and Services Administration, and the National Institutes of Health to develop guidelines for laboratories to meet CLIA requirements and apply additional quality assurance measures for these areas of genetic testing. This report provides recommendations for good laboratory practices that were developed based on recommendations from the Clinical Laboratory Improvement Advisory Committee, with additional input from the Secretary's Advisory Committee on Genetics, Health, and Society; the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children; and representatives of newborn screening laboratories. The recommended practices address the benefits of using a quality management system approach, factors to consider before introducing new tests, establishment and verification of test performance specifications, the total laboratory testing process (which consists of the preanalytic, analytic, and postanalytic phases), confidentiality of patient information and test results, and personnel qualifications and responsibilities for laboratory testing for inherited metabolic diseases. These recommendations are intended for laboratories that perform biochemical genetic testing to improve the quality of laboratory services and for newborn screening laboratories to ensure the quality of laboratory practices for inherited metabolic disorders. These recommendations also are intended as a resource for medical and public health professionals who evaluate laboratory practices, for users of laboratory services to facilitate their collaboration with newborn screening systems and use of biochemical genetic tests, and for standard-setting organizations and professional societies in developing future laboratory quality standards and practice recommendations. This report complements Good Laboratory Practices for Molecular Genetic Testing for Heritable Diseases and Conditions (CDC. Good laboratory practices for molecular genetic testing for heritable diseases and conditions. MMWR 2009;58 [No. RR-6]) to provide guidance for ensuring and improving the quality of genetic laboratory services and public health outcomes. Future recommendations for additional areas of genetic testing will be considered on the basis of continued monitoring and evaluation of laboratory practices, technology advancements, and the development of laboratory standards and guidelines.

Personalized medicine and access to genetic technologies.

PubMed

den Exter, André

2010-01-01

Personalized medicine started after the Human Genome Project and is a relatively new concept that will dramatically change clinical practice. It offers clear clinical advantages by applying genetic diagnostic tests and then treating the patient with targeted medicines based on his or her genetic make-up. Its potential seems promising but there are quite a few legal concerns. One of these questions deals with the right to health care and access to genetic technologies. In this paper, the author explains the meaning of such a right to health care under international human rights law, its relevance for making genetic services eligible for public funding, how to cope with quality concerns of commercial testing, and finally, the patentability controversy and clinical access to genetic information. Apart from more traditional human rights concerns (consent, privacy, confidentiality) and genetics, States should be aware of the meaning of the equal access concept under international law and its consequences when introducing new technologies such genetic testing and services.

77 FR 35698 - Secretary's Advisory Committee on Heritable Disorders in Newborns and Children

Federal Register 2010, 2011, 2012, 2013, 2014

2012-06-14

...), SACHDNC; and, Chief, Genetic Services Branch, Maternal and Child Health Bureau, Health Resources and...., Genetic Services Branch, Maternal and Child Health Bureau, HRSA, at [email protected] or (301) 443-1080. A..., or at risk for, heritable disorders; and (b) enhancing the ability of the State and local health...

Development of FOCUS-GC: Framework for Outcomes of Clinical Communication Services in Genetic Counseling.

PubMed

Cragun, Deborah; Zierhut, Heather

2018-02-01

Conceptual frameworks bring together existing theories and models in order to identify, consolidate, and fill in gaps between theory, practice, and evidence. Given the vast number of possible outcomes that could be studied in genetic counseling, a framework for organizing outcomes and postulating relationships between communication services and genetic counseling outcomes was sought. Through an iterative approach involving literature review, thematic analysis, and consolidation, outcomes and processes were categorized to create and define components of a conceptual framework. The final product, "Framework for Outcomes of Clinical commUnication Services" (FOCUS) contains the following domains: communication strategy; communication process measures; patient care experience, patient changes, patient health; and family changes. A website was created to allow easier access and ongoing modifications to the framework. In addition, a step-by-step guide and two examples were created to show flexibility in how the framework can be used. FOCUS may help in conceptualizing, organizing and summarizing outcomes research related to risk communication and counseling in genetic service delivery as well as other healthcare settings.

Genetic educational needs and the role of genetics in primary care: a focus group study with multiple perspectives

PubMed Central

2011-01-01

Background Available evidence suggests that improvements in genetics education are needed to prepare primary care providers for the impact of ongoing rapid advances in genomics. Postgraduate (physician training) and master (midwifery training) programmes in primary care and public health are failing to meet these perceived educational needs. The aim of this study was to explore the role of genetics in primary care (i.e. family medicine and midwifery care) and the need for education in this area as perceived by primary care providers, patient advocacy groups and clinical genetics professionals. Methods Forty-four participants took part in three types of focus groups: mono-disciplinary groups of general practitioners and midwives, respectively and multidisciplinary groups composed of a diverse set of experts. The focus group sessions were audio-taped, transcribed verbatim and analysed using content analysis. Recurrent themes were identified. Results Four themes emerged regarding the educational needs and the role of genetics in primary care: (1) genetics knowledge, (2) family history, (3) ethical dilemmas and psychosocial effects in relation to genetics and (4) insight into the organisation and role of clinical genetics services. These themes reflect a shift in the role of genetics in primary care with implications for education. Although all focus group participants acknowledged the importance of genetics education, general practitioners felt this need more urgently than midwives and more strongly emphasized their perceived knowledge deficiencies. Conclusion The responsibilities of primary care providers with regard to genetics require further study. The results of this study will help to develop effective genetics education strategies to improve primary care providers' competencies in this area. More research into the educational priorities in genetics is needed to design courses that are suitable for postgraduate and master programmes for general practitioners and midwives. PMID:21329524

Patient reported outcomes and patient empowerment in clinical genetics services.

PubMed

McAllister, M; Dearing, A

2015-08-01

Evaluation of clinical genetics services (CGS), including genetic counseling and genetic testing, has been problematic. Patient mortality and morbidity are unlikely to be directly improved by interventions offered in CGS. Patient-reported outcomes (PROs) are not routinely measured in CGS evaluation, but this may change as patient-reported outcome measures (PROMs) become a key part of how healthcare services are managed and funded across the world. However, there is no clear consensus about which PROMs are most useful for CGS evaluation. This review summarizes the published research on how PROs from CGS have been measured and how patients may benefit from using those services, with a focus on patient empowerment. Many patient benefits (PROs) identified repeatedly in the research literature can be re-interpreted within a patient empowerment framework. Other important PROs identified include family functioning, social functioning, altruism, sense of purpose, enabling development of future research and treatment/participating in research. Well-validated measures are available to capture (dimensions of) patient empowerment. Although generic measures of family functioning are available, suitable measures capturing social functioning, development of future treatments, and altruism were not identified in this review. Patient empowerment provides one useful approach to measuring PROs from CGS. © 2014 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Optimal sensor placement for deployable antenna module health monitoring in SSPS using genetic algorithm

NASA Astrophysics Data System (ADS)

Yang, Chen; Zhang, Xuepan; Huang, Xiaoqi; Cheng, ZhengAi; Zhang, Xinghua; Hou, Xinbin

2017-11-01

The concept of space solar power satellite (SSPS) is an advanced system for collecting solar energy in space and transmitting it wirelessly to earth. However, due to the long service life, in-orbit damage may occur in the structural system of SSPS. Therefore, sensor placement layouts for structural health monitoring should be firstly considered in this concept. In this paper, based on genetic algorithm, an optimal sensor placement method for deployable antenna module health monitoring in SSPS is proposed. According to the characteristics of the deployable antenna module, the designs of sensor placement are listed. Furthermore, based on effective independence method and effective interval index, a combined fitness function is defined to maximize linear independence in targeted modes while simultaneously avoiding redundant information at nearby positions. In addition, by considering the reliability of sensors located at deployable mechanisms, another fitness function is constituted. Moreover, the solution process of optimal sensor placement by using genetic algorithm is clearly demonstrated. At last, a numerical example about the sensor placement layout in a deployable antenna module of SSPS is presented, which by synthetically considering all the above mentioned performances. All results can illustrate the effectiveness and feasibility of the proposed sensor placement method in SSPS.

75 FR 68321 - Forage Genetics International; Supplemental Request for Partial Deregulation of Roundup Ready...

Federal Register 2010, 2011, 2012, 2013, 2014

2010-11-05

...] Forage Genetics International; Supplemental Request for Partial Deregulation of Roundup Ready Alfalfa... Inspection Service has received a supplemental request for ``partial deregulation'' from Forage Genetics... affected persons of the availability of the documents submitted to the Agency from Forage Genetics...

Prevalence of genetic thrombophilic polymorphisms in the Sri Lankan population--implications for association study design and clinical genetic testing services.

PubMed

Dissanayake, Vajira H W; Weerasekera, Lakshini Y; Gammulla, C Gayani; Jayasekara, Rohan W

2009-10-01

We investigated the prevalence of genotypes/alleles of single nucleotide polymorphisms (SNP) and haplotypes defined by them in three genes in which variations are associated with venous thromboembolism in 80 Sinhalese, 80 Sri Lankan Tamils and 80 Moors in the Sri Lankan population and compared the SNP data with that of other populations in Southern India and haplotype data with that of HapMap populations. The genes and polymorphisms investigated were Methylenetetrahydrofolate reductase (MTHFR) - 677C>T (rs1801133), 1298A>C (rs1801131), 1317T>C, 1793G>A (rs2274976); Factor V (F5) - 1691G>A (rs6025) and 4070A>G (rs1800595); and prothrombin (F2) - 20210G>A (rs1799963). The polymorphisms were genotyped using PCR/RFLP methods. The prevalence of the variant alleles of each polymorphism in the Sinhalese, Tamils, and Moors was MTHFR 677T: Sinhalese - 13%, Tamils - 9%, Moors - 9%. 1317T>C: Sinhalese - 0%; Tamils - 0%; Moors - 0%. 1793A: Sinhalese - 19%, Tamils - 19%, Moors - 19%. F5 1691A: Sinhalese - 2%, Tamils - 3%, Moors - 2%. 4070G: Sinhalese - 6%, Tamils - 5%, Moors - 8%. F2 20210A: Sinhalese - 0%, Tamils - 0%, Moors - 0%. The frequencies observed were similar to data from other South Indian populations; the haplotype data showed haplotypes unique to the Sri Lankan population when compared to HapMap populations. rs9651118 was identified as a SNP that splits the haplotypes harbouring the functionally significant 677T allele in the MTHFR gene. This data would be useful in planning genetic association studies in the Sri Lankan population and in deciding on which genetic variants should be tested in a clinical genetic testing service.

Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia

PubMed Central

Wen, Wei Xiong; Allen, Jamie; Lai, Kah Nyin; Mariapun, Shivaani; Hasan, Siti Norhidayu; Ng, Pei Sze; Lee, Daphne Shin-Chi; Lee, Sheau Yee; Yoon, Sook-Yee; Lim, Joanna; Lau, Shao Yan; Decker, Brennan; Pooley, Karen; Dorling, Leila; Luccarini, Craig; Baynes, Caroline; Conroy, Don M; Harrington, Patricia; Simard, Jacques; Yip, Cheng Har; Mohd Taib, Nur Aishah; Ho, Weang Kee; Antoniou, Antonis C; Dunning, Alison M; Easton, Douglas F

2018-01-01

Background Genetic testing for BRCA1 and BRCA2 is offered typically to selected women based on age of onset and family history of cancer. However, current internationally accepted genetic testing referral guidelines are built mostly on data from cancer genetics clinics in women of European descent. To evaluate the appropriateness of such guidelines in Asians, we have determined the prevalence of germ line variants in an unselected cohort of Asian patients with breast cancer and healthy controls. Methods Germ line DNA from a hospital-based study of 2575 unselected patients with breast cancer and 2809 healthy controls were subjected to amplicon-based targeted sequencing of exonic and proximal splice site junction regions of BRCA1 and BRCA2 using the Fluidigm Access Array system, with sequencing conducted on a Illumina HiSeq2500 platform. Variant calling was performed with GATK UnifiedGenotyper and were validated by Sanger sequencing. Results Fifty-five (2.1%) BRCA1 and 66 (2.6%) BRCA2 deleterious mutations were identified among patients with breast cancer and five (0.18%) BRCA1 and six (0.21%) BRCA2 mutations among controls. One thousand one hundred and eighty-six (46%) patients and 97 (80%) carriers fulfilled the National Comprehensive Cancer Network guidelines for genetic testing. Conclusion Five per cent of unselected Asian patients with breast cancer carry deleterious variants in BRCA1 or BRCA2. While current referral guidelines identified the majority of carriers, one in two patients would be referred for genetic services. Given that such services are largely unavailable in majority of low-resource settings in Asia, our study highlights the need for more efficient guidelines to identify at-risk individuals in Asia. PMID:28993434

Mapping public policy on genetics.

PubMed

Weisfeld, N E

2002-06-01

The mapping of the human genome and related advances in genetics are stimulating the development of public policies on genetics. Certain notions that currently prevail in public policy development overall--including the importance of protecting privacy of information, an interest in cost-effectiveness, and the power of the anecdote--will help determine the future of public policy on genetics. Information areas affected include discrimination by insurers and employers, confidentiality, genetic databanks, genetic testing in law enforcement, and court-ordered genetic testing in civil cases. Service issues address clinical standards, insurance benefits, allocation of resources, and screening of populations at risk. Supply issues encompass funding of research and clinical positions. Likely government actions include, among others: (1) Requiring individual consent for the disclosure of personal information, except when such consent would impose inordinate costs; (2) licensing genetic databases; (3) allowing courts to use personal information in cases where a refusal to use such information would offend the public; (4) mandating health insurers to pay for cost-effective genetic services; (5) funding pharmaceutical research to develop tailored products to prevent or treat diseases; and (6) funding training programs.

Contribution of genetics to ecological restoration.

PubMed

Mijangos, Jose Luis; Pacioni, Carlo; Spencer, Peter B S; Craig, Michael D

2015-01-01

Ecological restoration of degraded ecosystems has emerged as a critical tool in the fight to reverse and ameliorate the current loss of biodiversity and ecosystem services. Approaches derived from different genetic disciplines are extending the theoretical and applied frameworks on which ecological restoration is based. We performed a search of scientific articles and identified 160 articles that employed a genetic approach within a restoration context to shed light on the links between genetics and restoration. These articles were then classified on whether they examined association between genetics and fitness or the application of genetics in demographic studies, and on the way the studies informed restoration practice. Although genetic research in restoration is rapidly growing, we found that studies could make better use of the extensive toolbox developed by applied fields in genetics. Overall, 41% of reviewed studies used genetic information to evaluate or monitor restoration, and 59% provided genetic information to guide prerestoration decision-making processes. Reviewed studies suggest that restoration practitioners often overlook the importance of including genetic aspects within their restoration goals. Even though there is a genetic basis influencing the provision of ecosystem services, few studies explored this relationship. We provide a view of research gaps, future directions and challenges in the genetics of restoration. © 2014 John Wiley & Sons Ltd.

Using Critical Literacy to Explore Genetics and Its Ethical, Legal, and Social Issues with In-Service Secondary Teachers

ERIC Educational Resources Information Center

Gleason, Michael L.; Melancon, Megan E.; Kleine, Karynne L. M.

2010-01-01

The described interdisciplinary course helped a mixed population of in-service secondary English and biology teacher-participants increase their genetics content knowledge and awareness of Ethical, Legal, and Social Implications (ELSI) that arose from discoveries and practices associated with the Human Genome Project. This was accomplished by…

The Knowledge of DNA and DNA Technologies among Pre-Service Science Teachers

ERIC Educational Resources Information Center

Cardak, Osman; Dikmenli, Musa

2008-01-01

The purpose of this study is to determine the alternative conceptions of elementary school pre-service science teachers regarding DNA and DNA technologies. The questions asked in the study related to subjects including the structure and role of DNA molecule, structure of genes, some genetic technologies, Genetically Modified Organism (GMO) plants,…

Genetic variants and cognitive aging: destiny or a nudge?

PubMed

Raz, Naftali; Lustig, Cindy

2014-06-01

One would be hard-pressed to find a human trait that is not heritable at least to some extent, and genetics have played an important role in behavioral science for more than half a century. With the advent of high-throughput molecular methods and the increasing availability of genomic analyses, genetics have acquired a firm foothold in public discourse. However, although the proliferation of genetic association studies and ever-expanding library of single-nucleotide polymorphisms have generated some fascinating results, they have thus far fallen short of delivering the anticipated dramatic breakthroughs. In this collection of eight articles, we present a spectrum of efforts aimed at finding more nuanced and meaningful ways of integrating genomic findings into the study of cognitive aging. The articles present examples of Mendelian randomization in the service of investigating difficult-to-manipulate biochemical properties of human participants. Furthermore, in an important step forward, they acknowledge the interactive effects of genes and physiological risk factors on age-related difference and change in cognitive performance, as well as the possibility of modifying the negative effect of genetic variants by lifestyle changes. PsycINFO Database Record (c) 2014 APA, all rights reserved.

Genetic counseling for schizophrenia: a review of referrals to a provincial medical genetics program from 1968–2007

PubMed Central

Hunter, MJ; Hippman, Catriona; Honer, William G; Austin, Jehannine C.

2014-01-01

Purpose Recent studies have shown that individuals with schizophrenia and their family members are interested in genetic counseling, but few have received this service. We conducted an exploratory, retrospective study to describe (a) the population of individuals who were referred to the provincial program for genetic counseling for a primary indication of schizophrenia, and (b) trends in number of referrals between 1968 and 2007. Methods Referrals for a primary indication of schizophrenia were identified through the provincial program database. Charts were reviewed and the following information was recorded: discipline of referring physician, demographics, psychiatric diagnosis, referred individual’s and partner’s (if applicable) family history, and any current pregnancy history. Data were characterized using descriptive statistics. Results Between 1968 and 2007, 288 referrals were made for a primary indication of schizophrenia. Most referrals were made: (a) for individuals who had a first-degree family member with schizophrenia, rather than for affected individuals, (b) for preconception counseling, and (c) by family physicians (69%), with only 2% by psychiatrists. Conclusions In British Columbia, individuals affected with schizophrenia and their family members are rarely referred for psychiatric genetic counseling. There is a need to identify barriers to psychiatric genetic counseling and develop strategies to improve access. PMID:20034078

Genetic relationships among body condition score, body weight, milk yield, and fertility in dairy cows.

PubMed

Berry, D P; Buckley, F; Dillon, P; Evans, R D; Rath, M; Veerkamp, R F

2003-06-01

Genetic (co)variances between body condition score (BCS), body weight (BW), milk production, and fertility-related traits were estimated. The data analyzed included 8591 multiparous Holstein-Friesian cows with records for BCS, BW, milk production, and/or fertility from 78 seasonal calving grass-based farms throughout southern Ireland. Of the cows included in the analysis, 4402 had repeated records across the 2 yr of the study. Genetic correlations between level of BCS at different stages of lactation and total lactation milk production were negative (-0.51 to -0.14). Genetic correlations between BW at different stages of lactation and total lactation milk production were all close to zero but became positive (0.01 to 0.39) after adjusting BW for differences in BCS. Body condition score at different stages of lactation correlated favorably with improved fertility; genetic correlations between BCS and pregnant 63 d after the start of breeding season ranged from 0.29 to 0.42. Both BW at different stages of lactation and milk production tended to exhibit negative genetic correlations with pregnant to first service and pregnant 63 d after the start of the breeding season and positive genetic correlations with number of services and the interval from first service to conception. Selection indexes investigated illustrate the possibility of continued selection for increased milk production without any deleterious effects on fertility or average BCS, albeit, genetic merit for milk production would increase at a slower rate.

Attitudes Toward Breast Cancer Genetic Testing in Five Special Population Groups

PubMed Central

Ramirez, Amelie G.; Chalela, Patricia; Gallion, Kipling J.; Muñoz, Edgar; Holden, Alan E.; Burhansstipanov, Linda; Smith, Selina A.; Wong-Kim, Evaon; Wyatt, Stephen W.; Suarez, Lucina

2016-01-01

Purpose This study examined interest in and attitudes toward genetic testing in 5 different population groups. Methods The survey included African American, Asian American, Latina, Native American, and Appalachian women with varying familial histories of breast cancer. A total of 49 women were interviewed in person. Descriptive and nonparametric statistical techniques were used to assess ethnic group differences. Results Overall, interest in testing was high. All groups endorsed more benefits than risks. There were group differences regarding endorsement of specific benefits and risks: testing to “follow doctor recommendations” (p=0.017), “concern for effects on family” (p=0.044), “distrust of modern medicine” (p=0.036), “cost” (p=0.025), and “concerns about communication of results to others” (p=0.032). There was a significant inverse relationship between interest and genetic testing cost (p<0.050), with the exception of Latinas, who showed the highest level of interest regardless of increasing cost. Conclusion Cost may be an important barrier to obtaining genetic testing services, and participants would benefit by genetic counseling that incorporates the unique cultural values and beliefs of each group to create an individualized, culturally competent program. Further research about attitudes toward genetic testing is needed among Asian Americans, Native Americans, and Appalachians for whom data are severely lacking. Future study of the different Latina perceptions toward genetic testing are encouraged. PMID:26855846

How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence

PubMed Central

Mendes, Álvaro; Paneque, Milena; Sousa, Liliana; Clarke, Angus; Sequeiros, Jorge

2016-01-01

Supporting consultands to communicate risk information with their relatives is key to obtaining the full benefits of genetic health care. To understand how health-care professionals address this issue in clinical practice and what interventions are used specifically to assist consultands in their communication of genetic information to appropriate relatives, we conducted a systematic review. Four electronic databases and four subject-specific journals were searched for papers published, in English, between January 1997 and May 2014. Of 2926 papers identified initially, 14 papers met the inclusion criteria for the review and were heterogeneous in design, setting and methods. Thematic data analysis has shown that dissemination of information within families is actively encouraged and supported by professionals. Three overarching themes emerged: (1) direct contact from genetic services: sending letters to relatives of mutation carriers; (2) professionals' encouragement of initially reluctant consultands to share relevant information with at-risk relatives and (3) assisting consultands in communicating genetic information to their at-risk relatives, which included as subthemes (i) psychoeducational guidance and (ii) written information aids. Findings suggest that professionals' practice and interventions are predicated on the need to proactively encourage family communication. We discuss this in the context of what guidance of consultands by professionals might be appropriate, as best practices to facilitate family communication, and of the limits to non-directiveness in genetic counselling. PMID:26264439

How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence.

PubMed

Mendes, Álvaro; Paneque, Milena; Sousa, Liliana; Clarke, Angus; Sequeiros, Jorge

2016-03-01

Supporting consultands to communicate risk information with their relatives is key to obtaining the full benefits of genetic health care. To understand how health-care professionals address this issue in clinical practice and what interventions are used specifically to assist consultands in their communication of genetic information to appropriate relatives, we conducted a systematic review. Four electronic databases and four subject-specific journals were searched for papers published, in English, between January 1997 and May 2014. Of 2926 papers identified initially, 14 papers met the inclusion criteria for the review and were heterogeneous in design, setting and methods. Thematic data analysis has shown that dissemination of information within families is actively encouraged and supported by professionals. Three overarching themes emerged: (1) direct contact from genetic services: sending letters to relatives of mutation carriers; (2) professionals' encouragement of initially reluctant consultands to share relevant information with at-risk relatives and (3) assisting consultands in communicating genetic information to their at-risk relatives, which included as subthemes (i) psychoeducational guidance and (ii) written information aids. Findings suggest that professionals' practice and interventions are predicated on the need to proactively encourage family communication. We discuss this in the context of what guidance of consultands by professionals might be appropriate, as best practices to facilitate family communication, and of the limits to non-directiveness in genetic counselling.

A proposal for clinical genetics (genetics in medicine) education for medical technologists and other health professionals in Japan.

PubMed

Kohzaki, Hidetsugu

2014-01-01

Since the completion of the Human Genome Project, technology has developed markedly in fields such as medical genetics and genetic counseling in the medical arena. In particular, this technology has advanced the discovery of and ways of understanding various genes responsible for genetic diseases, and genetic polymorphisms thought to be associated with disease. Some have been implicated as factors in common lifestyle diseases and have increased the significance of genetic testing. In Japan, doctors and other health professionals, such as nurse and medical technologists have been engaged in genetic testing and genetic disease treatment. Chromosomal and gene aberrations were detected mainly by medical technologists. However, due to the nature of medical technologists who have to provide various clinical tests, such as blood test, pre-medical technology students are required to cover tremendous knowledge of different academic fields to pass the national exam. Therefore, the time allowed for such students to study chromosomal and gene analysis is quite limited. Moreover, they are forced to enter the medical setting without receiving sufficient training. Among them, only few medical technologists specialize in chromosomal and gene analysis. However, with the advancement of clinical genetics and development of chromosomal and gene analysis, conducting clinical practice is becoming more and more difficult for medical technologists who just passed the national exam. Also, doctors and other health professionals have not been able to keep up with service demands either. This paper attempts to address knowledge and skills gaps (especially clinical genetics, English, and ICT literacy) of medical technologists and we propose educational methods to prepare medical genetics professionals in Japan to meet these gaps.

SecureMA: protecting participant privacy in genetic association meta-analysis.

PubMed

Xie, Wei; Kantarcioglu, Murat; Bush, William S; Crawford, Dana; Denny, Joshua C; Heatherly, Raymond; Malin, Bradley A

2014-12-01

Sharing genomic data is crucial to support scientific investigation such as genome-wide association studies. However, recent investigations suggest the privacy of the individual participants in these studies can be compromised, leading to serious concerns and consequences, such as overly restricted access to data. We introduce a novel cryptographic strategy to securely perform meta-analysis for genetic association studies in large consortia. Our methodology is useful for supporting joint studies among disparate data sites, where privacy or confidentiality is of concern. We validate our method using three multisite association studies. Our research shows that genetic associations can be analyzed efficiently and accurately across substudy sites, without leaking information on individual participants and site-level association summaries. Our software for secure meta-analysis of genetic association studies, SecureMA, is publicly available at http://github.com/XieConnect/SecureMA. Our customized secure computation framework is also publicly available at http://github.com/XieConnect/CircuitService. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

Direct-to-consumer genetic testing: good, bad or benign?

PubMed

Caulfield, T; Ries, N M; Ray, P N; Shuman, C; Wilson, B

2010-02-01

A wide variety of genetic tests are now being marketed and sold in direct-to-consumer (DTC) commercial transactions. However, risk information revealed through many DTC testing services, especially those based on emerging genome wide-association studies, has limited predictive value for consumers. Some commentators contend that tests are being marketed prematurely, while others support rapid translation of genetic research findings to the marketplace. The potential harms and benefits of DTC access to genetic testing are not yet well understood, but some large-scale studies have recently been launched to examine how consumers understand and use genetic risk information. Greater consumer access to genetic tests creates a need for continuing education for health care professionals so they can respond to patients' inquiries about the benefits, risks and limitations of DTC services. Governmental bodies in many jurisdictions are considering options for regulating practices of DTC genetic testing companies, particularly to govern quality of commercial genetic tests and ensure fair and truthful advertising. Intersectoral initiatives involving government regulators, professional bodies and industry are important to facilitate development of standards to govern this rapidly developing area of personalized genomic commerce.

Oncogenetics service and the Brazilian public health system: the experience of a reference Cancer Hospital.

PubMed

Palmero, Edenir I; Galvão, Henrique C R; Fernandes, Gabriela C; Paula, André E de; Oliveira, Junea C; Souza, Cristiano P; Andrade, Carlos E; Romagnolo, Luis G C; Volc, Sahlua; C Neto, Maximiliano; Sabato, Cristina; Grasel, Rebeca; Mauad, Edmundo; Reis, Rui M; Michelli, Rodrigo A D

2016-05-13

The identification of families at-risk for hereditary cancer is extremely important due to the prevention potential in those families. However, the number of Brazilian genetic services providing oncogenetic care is extremely low for the continental dimension of the country and its population. Therefore, at-risk patients do not receive appropriate assistance. This report describes the creation, structure and management of a cancer genetics service in a reference center for cancer prevention and treatment, the Barretos Cancer Hospital (BCH). The Oncogenetics Department (OD) of BCH offers, free of charge, to all patients/relatives with clinical criteria, the possibility to perform i) genetic counseling, ii) preventive examinations and iii) genetic testing with the best quality standards. The OD has a multidisciplinary team and is integrated with all specialties. The genetic counseling process consists (mostly) of two visits. In 2014, 614 individuals (371 families) were seen by the OD. To date, over 800 families were referred by the OD for genetic testing. The support provided by the Oncogenetics team is crucial to identify at-risk individuals and to develop preventive and personalized behaviors for each situation, not only to the upper-middle class population, but also to the people whose only possibility is the public health system.

Teachers' Conceptions about the Genetic Determinism of Human Behaviour: A Survey in 23 Countries

ERIC Educational Resources Information Center

Castéra, Jérémy; Clément, Pierre

2014-01-01

This work analyses the answers to a questionnaire from 8,285 in-service and pre-service teachers from 23 countries, elaborated by the Biohead-Citizen research project, to investigate teachers' conceptions related to the genetic determinism of human behaviour. A principal components analysis is used to assess the main trends in all the interviewed…

An audit of clinical service examining the uptake of genetic testing by at-risk family members.

PubMed

Forrest, Laura; Delatycki, Martin; Curnow, Lisette; Gen Couns, M; Skene, Loane; Aitken, Maryanne

2012-01-01

The aim of this study was to investigate the uptake of genetic testing by at-risk family members for four genetic conditions: chromosomal translocations, fragile X syndrome, Huntington disease, and spinal muscular atrophy. A clinical audit was undertaken using genetics files from Genetic Health Services Victoria. Data were extracted from the files regarding the number of at-risk family members and the proportion tested. Information was also collected about whether discussion of at-risk family members and family communication during the genetic consultation was recorded. The proportion of at-risk family members who had genetic testing ranged from 11% to 18%. First-degree family members were most frequently tested and the proportion of testing decreased by degree of relatedness to the proband. Smaller families were significantly more likely to have genetic testing for all conditions except Huntington disease. Female at-risk family members were significantly more likely to have testing for fragile X syndrome. The majority of at-risk family members do not have genetic testing. Family communication is likely to influence the uptake of genetic testing by at-risk family members and therefore it is important that families are supported while communicating to ensure that at-risk family members are able to make informed decisions about genetic testing.

BRCA Genetic Counseling Among At-Risk Latinas in New York City: New Beliefs Shape New Generation

PubMed Central

Edwards, Tiffany; Villagra, Cristina; Rodriguez, M. Carina; Thompson, Hayley S.; Jandorf, Lina; Valdimarsdottir, Heiddis B.

2015-01-01

Despite the life-saving information that genetic counseling can provide for women at hereditary breast and/or ovarian cancer (HBOC) risk, Latinas disproportionately underuse such services. Understanding Latinas’ beliefs and attitudes about BRCA genetic counseling may be the key to better health promotion within this underserved, at-risk group. We conducted 12 focus groups (N=54) with at-risk Latina women in New York City, followed by 30 in-depth interviews among a subset of the focus group women. Both were professionally transcribed, translated where applicable and data analysis was completed by two coders trained in qualitative methods. Results revealed personal and community knowledge about BRCA genetic counseling was relatively low, although women felt largely positive about counseling. The main motivator to undergo genetic counseling was concerns about learning family members’ cancer status, while the main barrier was competing demands. Generational differences were apparent, with younger women (approximately <55 years) reporting that they were more interested in educating themselves about counseling and other ways to prevent cancer. Younger women were also less likely to ascribe to traditionally Latino-centered cultural beliefs which could serve as barriers (e.g. machismo, fatalismo, destino) to undergoing genetic counseling. Participants were largely enthusiastic about educational efforts to increase awareness of genetic counseling among Latinos. Revealing the beliefs and attitudes of underserved Latinas may help shape culturally appropriate educational materials and promotion programs to increase BRCA genetic counseling uptake within this under-represented community. PMID:25120034

BRCA genetic counseling among at-risk Latinas in New York City: new beliefs shape new generation.

PubMed

Sussner, Katarina M; Edwards, Tiffany; Villagra, Cristina; Rodriguez, M Carina; Thompson, Hayley S; Jandorf, Lina; Valdimarsdottir, Heiddis B

2015-02-01

Despite the life-saving information that genetic counseling can provide for women at hereditary breast and/or ovarian cancer (HBOC) risk, Latinas disproportionately underuse such services. Understanding Latinas' beliefs and attitudes about BRCA genetic counseling may be the key to better health promotion within this underserved, at-risk group. We conducted 12 focus groups (N = 54) with at-risk Latina women in New York City, followed by 30 in-depth interviews among a subset of the focus group women. Both were professionally transcribed, translated where applicable and data analysis was completed by two coders trained in qualitative methods. Results revealed personal and community knowledge about BRCA genetic counseling was relatively low, although women felt largely positive about counseling. The main motivator to undergo genetic counseling was concerns about learning family members' cancer status, while the main barrier was competing demands. Generational differences were apparent, with younger women (approximately <55 years) reporting that they were more interested in educating themselves about counseling and other ways to prevent cancer. Younger women were also less likely to ascribe to traditionally Latino-centered cultural beliefs which could serve as barriers (e.g. machismo, fatalismo, destino) to undergoing genetic counseling. Participants were largely enthusiastic about educational efforts to increase awareness of genetic counseling among Latinos. Revealing the beliefs and attitudes of underserved Latinas may help shape culturally appropriate educational materials and promotion programs to increase BRCA genetic counseling uptake within this underrepresented community.

Optimizing the Reliability and Performance of Service Composition Applications with Fault Tolerance in Wireless Sensor Networks

PubMed Central

Wu, Zhao; Xiong, Naixue; Huang, Yannong; Xu, Degang; Hu, Chunyang

2015-01-01

The services composition technology provides flexible methods for building service composition applications (SCAs) in wireless sensor networks (WSNs). The high reliability and high performance of SCAs help services composition technology promote the practical application of WSNs. The optimization methods for reliability and performance used for traditional software systems are mostly based on the instantiations of software components, which are inapplicable and inefficient in the ever-changing SCAs in WSNs. In this paper, we consider the SCAs with fault tolerance in WSNs. Based on a Universal Generating Function (UGF) we propose a reliability and performance model of SCAs in WSNs, which generalizes a redundancy optimization problem to a multi-state system. Based on this model, an efficient optimization algorithm for reliability and performance of SCAs in WSNs is developed based on a Genetic Algorithm (GA) to find the optimal structure of SCAs with fault-tolerance in WSNs. In order to examine the feasibility of our algorithm, we have evaluated the performance. Furthermore, the interrelationships between the reliability, performance and cost are investigated. In addition, a distinct approach to determine the most suitable parameters in the suggested algorithm is proposed. PMID:26561818

Anthropogenic alterations of genetic diversity within tree populations: Implications for forest ecosystem resilience

Treesearch

Paul G. Schaberg; Donald H. DeHayes; Gary J. Hawley; Samuel E. Nijensohn

2008-01-01

Healthy forests provide many of the essential ecosystem services upon which all life depends. Genetic diversity is an essential component of long-term forest health because it provides a basis for adaptation and resilience to environmental stress and change. In addition to natural processes, numerous anthropogenic factors deplete forest genetic resources. Genetic...

Family Communication, Risk Perception and Cancer Knowledge of Young Adults from BRCA1/2 Families: a Systematic Review.

PubMed

Young, Alison L; Butow, Phyllis N; Vetsch, Janine; Quinn, Veronica F; Patenaude, Andrea F; Tucker, Katherine M; Wakefield, Claire E

2017-12-01

Understanding challenges in familial communication of cancer risk has informed genetic service delivery. Parent-child interactions have received considerable attention, but few studies focus on young adulthood experiences within BRCA1/2 families. Young adults are approaching, or at a life stage where awareness of hereditary cancer risk is vital for informed choice of risk management options. This review assesses family communication, risk perception and cancer knowledge held by 18-40 year old individuals who have a parent with a BRCA1/2 gene mutation or carry the gene mutation themselves. Thirteen papers met the inclusion criteria. One utilized a 'mixed methods' methodology and the remaining used a qualitative approach. Findings were synthesized into themes and reported narratively. In general, parents are communicating openly about genetic risk with young adult offspring, but there is evidence that some young adults are withholding information from their parents about their own test results. Risk perception is influenced by a family history of cancer, childbearing plans and health providers' advice. Misconceptions about genetic risk appear to be common and gaps in hereditary cancer knowledge are evident. It is unclear whether incorrect knowledge was passed from parents to offspring. Health providers need to provide developmentally appropriate services for emerging adults (18-25 years old), with particular support in navigating through risk management options.

A Randomized Controlled Trial of Disclosing Genetic Risk Information for Alzheimer’s Disease via Telephone

PubMed Central

Christensen, Kurt D.; Uhlmann, Wendy R.; Roberts, J. Scott; Linnenbringer, Erin; Whitehouse, Peter J.; Royal, Charmaine D. M.; Obisesan, Thomas O.; Cupples, L. Adrienne; Butson, Melissa B.; Fasaye, Grace-Ann; Hiraki, Susan; Chen, Clara A.; Siebert, Uwe; Cook-Deegan, Robert; Green, Robert C.

2018-01-01

Purpose Telephone disclosure of genetic test results can improve access to services. To date, studies of its impact have focused on return of Mendelian risk information, principally hereditary cancer syndromes. Methods In a multisite trial of Alzheimer’s disease genetic risk disclosure, asymptomatic adults were randomized to receive test results in-person or via telephone. Primary analyses examined patient outcomes 12 months after disclosure. Results Data from 257 participants showed that telephone disclosure occurred 7.4 days sooner and were 30% shorter, on average, than in-person disclosure (both p<0.001). Anxiety and depression scores were well below cutoffs for clinical concern across protocols. Comparing telephone and in-person disclosure protocols, 99% CIs of mean differences were within non-inferiority margins on scales assessing anxiety, depression, and test-related distress, but inconclusive about positive impact. No differences were observed on measures of recall and subjective impact. Sub-analyses supported non-inferiority on all outcomes among APOE ε4-negative participants. Sub-analyses were inconclusive for APOE ε4-positive participants, although mean anxiety and depression scores were still well below cutoffs for clinical concern. Conclusion Telephone disclosure of APOE results and risk for Alzheimer’s disease is generally safe and helps providers meet demands for services, even when results identify an increased risk for disease. PMID:28726810

The use of genetics for the management of a recovering population: temporal assessment of migratory peregrine falcons in North America

USGS Publications Warehouse

Johnson, Jeff A.; Talbot, Sandra L.; Sage, George K.; Burnham, Kurt K.; Brown, Joseph W.; Maechtle, Tom L.; Seegar, William S.; Yates, Michael A.; Anderson, Bud; Mindell, David P.

2010-01-01

Background:Our ability to monitor populations or species that were once threatened or endangered and in the process of recovery is enhanced by using genetic methods to assess overall population stability and size over time. This can be accomplished most directly by obtaining genetic measures from temporally-spaced samples that reflect the overall stability of the population as given by changes in genetic diversity levels (allelic richness and heterozygosity), degree of population differentiation (FST and DEST), and effective population size (Ne). The primary goal of any recovery effort is to produce a long-term self-sustaining population, and these measures provide a metric by which we can gauge our progress and help make important management decisions. Methodology/Principal Findings:The peregrine falcon in North America (Falco peregrinus tundrius and anatum) was delisted in 1994 and 1999, respectively, and its abundance will be monitored by the species Recovery Team every three years until 2015. Although the United States Fish and Wildlife Service makes a distinction between tundrius and anatum subspecies, our genetic results based on eleven microsatellite loci, including those from Brown et al. (2007), suggest no differentiation and warrant delineation of a subspecies in its northern latitudinal distribution from Alaska through Canada into Greenland. Using temporal samples collected at Padre Island, Texas during migration (seven temporal time periods between 1985-2007), no significant differences in genetic diversity or significant population differentiation in allele frequencies between time periods were observed and were indistinguishable from those obtained from tundrius/anatum breeding locations throughout their northern distribution. Estimates of harmonic mean Ne were variable and imprecise, but always greater than 500 when employing multiple temporal genetic methods. These results, including those from simulations to assess the power of each method to estimate Ne, suggest a stable population consistent with data from field-based monitoring indicating that this species is stable or continuing to increase in abundance. Therefore, historic and continuing efforts to prevent the extinction of the peregrine falcon in North America appear successful, further highlighting the importance of archiving samples for continual assessment of population recovery and long-term viability.

The study of relatedness and genetic diversity in cranes

USGS Publications Warehouse

Gee, G.F.; Dessauer, H.C.; Longmire, J.; Briles, W.E.; Simon, R.C.; Wood, Don A.

1992-01-01

The U.S. Fish and Wildlife Service (Service) is responsible for recovery of endangered species in the wild and, when necessary, maintenance in captivity. These programs provide an immediate measure of insurance against extinction. A prerequisite inherent in all of these programs is the preservation of enough genetic diversity to maintain a viable population and to maintain the capacity of the population to respond to change. Measures of genetic diversity examine polymorphic genes that are not influenced by selection pressures. Examples of these techniques and those used to determine relatedness are discussed. Studies of genetic diversity, electrophoresis of blood proteins, relatedness, blood typing, and restriction fragment length polymorphisms which are being used by the Patuxent Wildlife Research Center are discussed in detail.

Personal genome testing in medical education: student experiences with genotyping in the classroom

PubMed Central

2013-01-01

Background Direct-to-consumer (DTC) personal genotyping services are beginning to be adopted by educational institutions as pedagogical tools for learning about human genetics. However, there is little known about student reactions to such testing. This study investigated student experiences and attitudes towards DTC personal genome testing. Methods Individual interviews were conducted with students who chose to undergo personal genotyping in the context of an elective genetics course. Ten medical and graduate students were interviewed before genotyping occurred, and at 2 weeks and 6 months after receiving their genotype results. Qualitative analysis of interview transcripts assessed the expectations and experiences of students who underwent personal genotyping, how they interpreted and applied their results; how the testing affected the quality of their learning during the course, and what were their perceived needs for support. Results Students stated that personal genotyping enhanced their engagement with the course content. Although students expressed skepticism over the clinical utility of some test results, they expressed significant enthusiasm immediately after receiving their personal genetic analysis, and were particularly interested in results such as drug response and carrier testing. However, few reported making behavioral changes or following up on specific results through a healthcare provider. Students did not report utilizing genetic counseling, despite feeling strongly that the 'general public' would need these services. In follow-up interviews, students exhibited poor recall on details of the consent and biobanking agreements, but expressed little regret over their decision to undergo genotyping. Students reported mining their raw genetic data, and conveyed a need for further consultation support in their exploration of genetic variants. Conclusions Personal genotyping may improve students' self-reported motivation and engagement with course material. However, consultative support that is different from traditional genetic counseling will be necessary to support students. Before incorporating personal genotyping into coursework, institutions should lead multi-disciplinary discussion to anticipate issues and incorporate teaching mechanisms that engage the ethical, legal, and social implications of personal genotyping, including addressing those found in this study, to go beyond what is offered by commercial providers. PMID:23510111

e-Labs and Work Objects: Towards Digital Health Economies

NASA Astrophysics Data System (ADS)

Ainsworth, John D.; Buchan, Iain E.

The optimal provision of healthcare and public health services requires the synthesis of evidence from multiple disciplines. It is necessary to understand the genetic, environmental, behavioural and social determinants of disease and health-related states; to balance the effectiveness of interventions with their costs; to ensure the maximum safety and acceptability of interventions; and to provide fair access to care services for given populations. Ever expanding databases of knowledge and local health information, and the ability to employ computationally expensive methods, promises much for decisions to be both supported by best evidence and locally relevant. This promise will, however, not be realised without providing health professionals with the tools to make sense of this information rich environment and to collaborate across disciplines. We propose, as a solution to this problem, the e-Lab and Work Objects model as a sense-making platform for digital health economies - bringing together data, methods and people for timely health intelligence.

Genetics and Common Disorders: Implications for Primary Care and Public Health Providers

DOE Office of Scientific and Technical Information (OSTI.GOV)

McInerney, Joseph D.; Greendale, Karen; Peay, Holly L.

We developed this program for primary care providers (PCPs) and public health professionals (PHPs) who are interested in increasing their understanding of the genetics of common chronic diseases and of the implications of genetics and genomics for their fields. The program differs from virtually all previous educational efforts in genetics for health professionals in that it focuses on the genetics of common chronic disease and on the broad principles that emerge when one views disease from the perspectives of variation and individuality, which are at the heart of thinking genetically. The CD-ROM introduces users to content that will improve theirmore » understanding of topics such as: • A framework for genetics and common disease; • Basic information on genetics, genomics, genetic medicine, and public health genetics, all in the context of common chronic disease; • The status of research on genetic contributions to specific common diseases, including a review of research methods; • Genetic/environmental interaction as the new “central dogma” of public health genetics; • The importance of taking and analyzing a family history; • The likely impact of potential gene discovery and genetic testing on genetic counseling and risk assessment and on the practices of PCPs and PHPs; • Stratification of populations into low-, moderate-, and high-risk categories; • The potential role of PCPs and PHPs in identifying high-risk individuals and families, in providing limited genetics services, and in referring to clinical genetics specialists; the potential for standard referral algorithms; • Implications of genetic insights for diagnosis and treatment; • Ethical, legal, and social issues that arise from genetic testing for common chronic diseases; and • Specific prevention strategies based on understanding of genetics and genetic/ environmental interactions. The interactive content – developed by experts in genetics, primary care, and public health – is organized around two case studies designed to appeal to primary care providers (thrombophilia) and public health professionals (development of a screening grogram for colorectal cancer). NCHPEG has distributed more than 0000 copies of the CD-ROM to NCHPEG member organizations and to other organizations and individuals in response to requests. The program also is available at www.nchpeg.org.« less

Genetic parameters of ovarian and uterine reproductive traits in dairy cows.

PubMed

Carthy, T R; Ryan, D P; Fitzgerald, A M; Evans, R D; Berry, D P

2015-06-01

The objective of the study was to estimate genetic parameters of detailed reproductive traits derived from ultrasound examination of the reproductive tract as well as their genetic correlations with traditional reproductive traits. A total of 226,141 calving and insemination records as well as 74,134 ultrasound records from Irish dairy cows were used. Traditional reproductive traits included postpartum interval to first service, conception, and next calving, as well as the interval from first to last service; number of inseminations, pregnancy rate to first service, pregnant within 42 d of the herd breeding season, and submission in the first 21 d of the herd breeding season were also available. Detailed reproductive traits included resumed cyclicity at the time of ultrasound examination, incidence of multiple ovulations, incidence of early postpartum ovulation, heat detection, ovarian cystic structures, embryo loss, and uterine score; the latter was a subjectively assessed on a scale of 1 (little fluid with normal uterine tone) to 4 (large quantity of fluid with a flaccid uterine tone). Variance (and covariance) components were estimated using repeatability animal linear mixed models. Heritability for all reproductive traits were generally low (0.001-0.05), with the exception of traits related to cyclicity postpartum, regardless if defined traditionally (0.07; calving to first service) or from ultrasound examination [resumed cyclicity at the time of examination (0.07) or early postpartum ovulation (0.10)]. The genetic correlations among the detailed reproductive traits were generally favorable. The exception was the genetic correlation (0.29) between resumed cyclicity and uterine score; superior genetic merit for cyclicity postpartum was associated with inferior uterine score. Superior genetic merit for most traditional reproductive traits was associated with superior genetic merit for resumed cyclicity (genetic correlations ranged from -0.59 to -0.36 and from 0.56 to 0.70) and uterine score (genetic correlations ranged from -0.47 to 0.32 and from 0.25 to 0.52). Genetic predisposition to an increased incidence of embryo loss was associated with both an inferior uterine score (0.24) and inferior genetic merit for traditional reproductive traits (genetic correlations ranged from -0.52 to -0.42 and from 0.33 to 0.80). The results from the present study indicate that selection based on traditional reproductive traits, such as calving interval or days open, resulted in improved genetic merit of all the detailed reproductive traits evaluated in this study. Additionally, greater accuracy of selection for calving interval is expected for a relatively small progeny group size when detailed reproductive traits are included in a multitrait genetic evaluation. Copyright © 2015 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

Ethics, policy, and educational issues in genetic testing.

PubMed

Williams, Janet K; Skirton, Heather; Masny, Agnes

2006-01-01

Analyze ethics, public policy, and education issues that arise in the United States (US) and the United Kingdom (UK) when genomic information acquired as a result of genetic testing is introduced into healthcare services. Priorities in the Ethical, Legal, and Social Issues Research Program include privacy, integration of genetic services into clinical health care, and educational preparation of the nursing workforce. These constructs are used to examine health policies in the US and UK, and professional interactions of individuals and families with healthcare providers. Individual, family, and societal goals may conflict with current healthcare practices and policies when genetic testing is done. Current health policies do not fully address these concerns. Unresolved issues include protection of privacy of individuals while considering genetic information needs of family members, determination of appropriate monitoring of genetic tests, addressing genetic healthcare discrepancies, and assuring appropriate nursing workforce preparation. Introduction of genetic testing into health care requires that providers are knowledgeable regarding ethical, policy, and practice issues in order to minimize risk for harm, protect the rights of individuals and families, and consider societal context in the management of genetic test results. Understanding of these issues is a component of genetic nursing competency that must be addressed at all levels of nursing education.

Online Module for Carrier Screening in Ashkenazi Jewish Individuals Compared with In-Person Genetics Education: A Randomized Controlled Trial.

PubMed

Fan, Chia Wei; Castonguay, Lysanne; Rummell, Sonja; Lévesque, Sébastien; Mitchell, John J; Sillon, Guillaume

2018-04-01

To increase accessibility to genetics services for low-urgency patients seeking Ashkenazi Jewish (AJ) carrier screening, we designed an interactive computer (IC) module that provides pre-test genetics education and allows genetics professionals to order the test without meeting the patients beforehand. We compared this module with in-person genetic counseling (GC) using a randomized trial. AJ individuals were randomized to undergo genetics education via the IC module (n = 26) or GC (n = 28). We compared post-interventional genetics knowledge, perceived genetic risk, and anxiety between the two groups, after accounting for pre-interventional scores, using ANCOVA. Wilcoxon Rank-Sum test was used to compare post-interventional satisfaction. Post-interventional genetics knowledge, risk perception, or anxiety were not significantly different between the two groups after accounting for baseline scores (p = 0.50-0.54), although the data are inconclusive regarding the module's non-inferiority at a 5% margin. Post-intervention satisfaction scores were generally higher in the GC group than the IC module group. Our IC module has the potential to improve access to clinical genetics services for patients and staff, but it is not suitable for all AJ patients and cannot completely replace the benefits of in-person consultations.

Influence of race/ethnicity on genetic counseling and testing for hereditary breast and ovarian cancer.

PubMed

Forman, Andrea D; Hall, Michael J

2009-01-01

Risk assessment coupled with genetic counseling and testing for the cancer predisposition genes BRCA1 and BRCA2 (BRCA1/2) has become an integral element of comprehensive patient evaluation and cancer risk management in the United States for individuals meeting high-risk criteria for hereditary breast and ovarian cancer (HBOC). For mutation carriers, several options for risk modification have achieved substantial reductions in future cancer risk. However, several recent studies have shown lower rates of BRCA1/2 counseling and testing among minority populations. Here, we explore the role of race/ethnicity in cancer risk assessment, genetic counseling and genetic testing for HBOC and the BRCA1/2 cancer predisposition genes. Barriers to genetic services related to race/ethnicity and underserved populations, including socioeconomic barriers (e.g., time, access, geographic, language/cultural, awareness, cost) and psychosocial barriers (e.g., medical mistrust, perceived disadvantages to genetic services), as well as additional barriers to care once mutation carriers are identified, will be reviewed.

The Affordable Care Act and genetic testing for inheritable cancer syndromes: impact on high-risk underserved minorities.

PubMed

Walcott, Farzana L; Dunn, Barbara K; DeShields, Mary; Baquet, Claudia

2014-02-01

Genetic testing for inheritable cancer syndromes is becoming a critical part of preventive health services. The Patient Protection and Affordable Care Act (PPACA) Essential Health Benefits package addresses breast cancer susceptibility-gene testing for women who are unaffected by cancer. The absence of provisions for 1) men, 2) cancer patients, 3) other inheritable cancer syndromes, and 4) risk-reducing interventions are limitations of PPACA. We discuss provisions and limitations of PPACA pertaining to genetic testing and effects on high-risk populations, in particular minorities. The PPACA is the beginning of an ongoing process of incorporating genetic testing in the armamentarium of cancer prevention. Future efforts should focus on ensuring equitable access to genetic testing as a preventive service under PPACA to high-risk populations other than women. Consideration should also be given to provisions for risk-reducing interventions, especially in underserved minority populations, who are known to underutilize genetic testing and may have limited financial resources for medical intervention.

Genetics Home Reference: shingles

MedlinePlus

... Aftercare MedlinePlus Encyclopedia: Shingles National Health Service (UK): Post-Herpetic Neuralgia Treatment General Information from MedlinePlus (5 links) Diagnostic Tests Drug Therapy Genetic Counseling Palliative Care Surgery and ...

The Development of a Post-Baccalaureate Certificate Program in Molecular Diagnostics

PubMed Central

Williams, Gail S.; Brown, Judith D.; Keagle, Martha B.

2000-01-01

A post-baccalaureate certificate program in diagnostic molecular sciences was created in 1995 by the Diagnostic Genetic Sciences Program in the School of Allied Health at the University of Connecticut. The required on-campus lecture and laboratory courses include basic laboratory techniques, health care issues, cell biology, immunology, human genetics, research, management, and molecular diagnostic techniques and laboratory in molecular diagnostics. These courses precede a 6-month, full-time practicum at an affiliated full-service molecular laboratory. The practicum includes amplification and blotting methods, a research project, and a choice of specialized electives including DNA sequencing, mutagenesis, in situ hybridization methods, or molecular diagnostic applications in microbiology. Graduates of the program are immediately eligible to sit for the National Credentialing Agency examination in molecular biology to obtain the credential Clinical Laboratory Specialist in Molecular Biology (CLSp(MB). This description of the University of Connecticut program may assist other laboratory science programs in creating similar curricula. PMID:11232107

75 FR 2554 - Advisory Committee on Heritable Disorders in Newborns and Children

Federal Register 2010, 2011, 2012, 2013, 2014

2010-01-15

... FURTHER INFORMATION CONTACT: Ms. Alaina Harris, Genetic Services Branch, Maternal and Child Health Bureau... DEPARTMENT OF HEALTH AND HUMAN SERVICES Health Resources and Services Administration Advisory Committee on Heritable Disorders in Newborns and Children AGENCY: Health Resources and Services...

Speech-Language Pathologists' Knowledge of Genetics: Perceived Confidence, Attitudes, Knowledge Acquisition and Practice-Based Variables

ERIC Educational Resources Information Center

Tramontana, G. Michael; Blood, Ingrid M.; Blood, Gordon W.

2013-01-01

The purpose of this study was to determine (a) the general knowledge bases demonstrated by school-based speech-language pathologists (SLPs) in the area of genetics, (b) the confidence levels of SLPs in providing services to children and their families with genetic disorders/syndromes, (c) the attitudes of SLPs regarding genetics and communication…

Key messages for communicating information about BRCA1 and BRCA2 to women with breast or ovarian cancer: Consensus across health professionals and service users.

PubMed

Jacobs, Chris; Pichert, Gabriella; Harris, Jackie; Tucker, Kathy; Michie, Susan

2017-11-01

Genetic testing of cancer predisposing genes will increasingly be needed in oncology clinics to target cancer treatment. This Delphi study aimed to identify areas of agreement and disagreement between genetics and oncology health professionals and service users about the key messages required by women with breast/ovarian cancer who undergo BRCA1/BRCA2 genetic testing and the optimal timing of communicating key messages. Participants were 16 expert health professionals specialising in oncology/genetics and 16 service users with breast/ovarian cancer and a pathogenic BRCA1/BRCA2 variant. Online questionnaires containing 53 inductively developed information messages were circulated to the groups separately. Participants rated each message as key/not key on a Likert scale and suggested additional messages. Questionnaires were modified according to the feedback and up to 3 rounds were circulated. Consensus was reached when there was ≥75% agreement. Thirty key messages were agreed by both groups with 7 of the key messages agreed by ≥95% of participants: dominant inheritance, the availability of predictive testing, the importance of pretest discussion, increased risk of breast and ovarian cancer, and the option of risk-reducing mastectomy and bilateral salpingo-oophorectomy. Both groups agreed that key messages should be communicated before genetic testing and once a pathogenic variant has been identified. There was a high level of agreement within and between the groups about the information requirements of women with breast/ovarian cancer about BRCA1/BRCA2. These key messages will be helpful in developing new approaches to the delivery of information as genetic testing becomes further integrated into mainstream oncology services. Copyright © 2017 John Wiley & Sons, Ltd.

How Well Do Customers of Direct-to-Consumer Personal Genomic Testing Services Comprehend Genetic Test Results? Findings from the Impact of Personal Genomics Study

PubMed Central

Ostergren, Jenny E.; Gornick, Michele C.; Carere, Deanna Alexis; Kalia, Sarah S.; Uhlmann, Wendy R.; Ruffin, Mack T.; Mountain, Joanna L.; Green, Robert C.; Roberts, J. Scott

2016-01-01

Aim To assess customer comprehension of health-related personal genomic testing (PGT) results. Methods We presented sample reports of genetic results and examined responses to comprehension questions in 1,030 PGT customers (mean age: 46.7 years; 59.9% female; 79.0% college graduates; 14.9% non-White; 4.7% of Hispanic/Latino ethnicity). Sample reports presented a genetic risk for Alzheimer’s disease and type 2 diabetes, carrier screening summary results for >30 conditions, results for phenylketonuria and cystic fibrosis, and drug response results for a statin drug. Logistic regression was used to identify correlates of participant comprehension. Results Participants exhibited high overall comprehension (mean score: 79.1% correct). The highest comprehension (range: 81.1–97.4% correct) was observed in the statin drug response and carrier screening summary results, and lower comprehension (range: 63.6–74.8% correct) on specific carrier screening results. Higher levels of numeracy, genetic knowledge, and education were significantly associated with greater comprehension. Older age (≥ 60 years) was associated with lower comprehension scores. Conclusions Most customers accurately interpreted the health implications of PGT results; however, comprehension varied by demographic characteristics, numeracy and genetic knowledge, and types and format of the genetic information presented. Results suggest a need to tailor the presentation of PGT results by test type and customer characteristics. PMID:26087778

Genetic counselors’ implicit racial attitudes and their relationship to communication

PubMed Central

Schaa, Kendra L; Roter, Debra L; Biesecker, Barbara B; Cooper, Lisa A; Erby, Lori H

2015-01-01

Objective Implicit racial attitudes are thought to shape interpersonal interactions and may contribute to health care disparities. This study explored the relationship between genetic counselors’ implicit racial attitudes and their communication during simulated genetic counseling sessions. Methods A nationally representative sample of genetic counselors completed a web-based survey that included the Race Implicit Association Test (IAT). A subset of these counselors (n=67) had participated in an earlier study in which they were video recorded counseling Black, Hispanic and non-Hispanic White simulated clients (SC) about their prenatal or cancer risks. The counselors’ IAT scores were related to their session communication through robust regression modeling. Results Genetic counselors showed a moderate to strong pro-White bias on the Race IAT (M=0.41, SD=0.35). Counselors with stronger pro-White bias were rated as displaying lower levels of positive affect (p<.05) and tended to use less emotionally responsive communication (p<.10) when counseling minority SCs. When counseling White SCs, pro-White bias was associated with lower levels of verbal dominance during sessions (p<.10). Stronger pro-White bias was also associated with more positive ratings of counselors’ nonverbal effectiveness by White SCs. Conclusions Implicit racial bias is associated with negative markers of communication in minority client sessions and may contribute to racial disparities in processes of care related to genetic services. PMID:25622081

Bioethics for human geneticists: models for reasoning and methods for teaching.

PubMed Central

Parker, L. S.

1994-01-01

The ethical issues raised by the Human Genome Project (HGP) and by human genetics in general are not entirely novel. In fact, the ethical issues surrounding genetic research and the provision of genetic services fit into the evolution of bioethics, a field of inquiry which has its roots in concerns of the 1970s, concerns about the dignity and self-determination of individuals and about the development of medical technologies. Although bioethics has been largely occupied with patient-centered concerns, attention is currently shifting toward socially oriented issues, such as the justice of the existing health-care system. Genetic counseling has already incorporated many of the lessons of early bioethics and, as a profession, adheres to a consultand-centered ethic which reflects the values incorporated into the doctrine of informed consent, which is a cornerstone of bioethics. The mandate of the Ethical, Legal, and Social Implications Program of the HGP--to anticipate ethical problems arising from advances in genetics and to educate the public about genetics--reflects not only the nonpaternalistic approach of early bioethics but also bioethics' increasing attention to the ethical import of systemic and institutional factors, as well as an anticipatory and preventive approach to dealing with ethical concerns. Because bioethics has so much to contribute to current consideration of ethical issues in human genetics, it is important to provide training in ethics to those working in the field. Guidelines for using a case-oriented approach are suggested. PMID:8279464

The impact of patents on the development of genome-based clinical diagnostics: an analysis of case studies

PubMed Central

Pierce, Brandon L.; Carlson, Christopher S.; Kuszler, Patricia C.; Stanford, Janet L.; Austin, Melissa A.

2010-01-01

Purpose Fragmented ownership of diagnostic gene patents has the potential to create an ‘anticommons’ in the area of genomic diagnostics, making it difficult and expensive to assemble the patent rights necessary to develop a panel of genetic tests. The objectives of this study were to identify U.S. patents that protect existing panels of genetic tests, describe how (or if) test providers acquired rights to these patents, and determine if fragmented patent ownership has inhibited the commercialization of these panels. Methods As case studies, we selected four clinical applications of genetic testing (cystic fibrosis, maturity-onset diabetes of the young, long QT syndrome, and hereditary breast cancer) that utilize tests protected by ≥3 U.S. patents. We summarized publically available information on relevant patents, test providers, licenses, and litigation. Results For each case study, all tests of major genes/mutations were patented, and at least one party held the collective rights to conduct all relevant tests, often as a result of licensing agreements. Conclusions We did not find evidence that fragmentation of patent rights has inhibited commercialization of genetic testing services. However, as knowledge of genetic susceptibility increases, it will be important to consider the potential consequences of fragmented ownership of diagnostic gene patents. PMID:19367193

Barriers and Facilitators to Adoption of Genomic Services for Colorectal Care within the Veterans Health Administration.

PubMed

Sperber, Nina R; Andrews, Sara M; Voils, Corrine I; Green, Gregory L; Provenzale, Dawn; Knight, Sara

2016-04-28

We examined facilitators and barriers to adoption of genomic services for colorectal care, one of the first genomic medicine applications, within the Veterans Health Administration to shed light on areas for practice change. We conducted semi-structured interviews with 58 clinicians to understand use of the following genomic services for colorectal care: family health history documentation, molecular and genetic testing, and genetic counseling. Data collection and analysis were informed by two conceptual frameworks, the Greenhalgh Diffusion of Innovation and Andersen Behavioral Model, to allow for concurrent examination of both access and innovation factors. Specialists were more likely than primary care clinicians to obtain family history to investigate hereditary colorectal cancer (CRC), but with limited detail; clinicians suggested templates to facilitate retrieval and documentation of family history according to guidelines. Clinicians identified advantage of molecular tumor analysis prior to genetic testing, but tumor testing was infrequently used due to perceived low disease burden. Support from genetic counselors was regarded as facilitative for considering hereditary basis of CRC diagnosis, but there was variability in awareness of and access to this expertise. Our data suggest the need for tools and policies to establish and disseminate well-defined processes for accessing services and adhering to guidelines.

The Use of Genetics for the Management of a Recovering Population: Temporal Assessment of Migratory Peregrine Falcons in North America

PubMed Central

Johnson, Jeff A.; Talbot, Sandra L.; Sage, George K.; Burnham, Kurt K.; Brown, Joseph W.; Maechtle, Tom L.; Seegar, William S.; Yates, Michael A.; Anderson, Bud; Mindell, David P.

2010-01-01

Background Our ability to monitor populations or species that were once threatened or endangered and in the process of recovery is enhanced by using genetic methods to assess overall population stability and size over time. This can be accomplished most directly by obtaining genetic measures from temporally-spaced samples that reflect the overall stability of the population as given by changes in genetic diversity levels (allelic richness and heterozygosity), degree of population differentiation (F ST and D EST), and effective population size (N e). The primary goal of any recovery effort is to produce a long-term self-sustaining population, and these genetic measures provide a metric by which we can gauge our progress and help make important management decisions. Methodology/Principal Findings The peregrine falcon in North America (Falco peregrinus tundrius and anatum) was delisted in 1994 and 1999, respectively, and its abundance will be monitored by the species Recovery Team every three years until 2015. Although the United States Fish and Wildlife Service makes a distinction between tundrius and anatum subspecies, our genetic results based on eleven microsatellite loci suggest limited differentiation that can be attributed to an isolation by distance relationship and warrant no delineation of these two subspecies in its northern latitudinal distribution from Alaska through Canada into Greenland. Using temporal samples collected at Padre Island, Texas during migration (seven temporal time periods between 1985–2007), no significant differences in genetic diversity or significant population differentiation in allele frequencies between time periods were observed and were indistinguishable from those obtained from tundrius/anatum breeding locations throughout their northern distribution. Estimates of harmonic mean N e were variable and imprecise, but always greater than 500 when employing multiple temporal genetic methods. Conclusions/Significance These results, including those from simulations to assess the power of each method to estimate N e, suggest a stable or growing population, which is consistent with ongoing field-based monitoring surveys. Therefore, historic and continuing efforts to prevent the extinction of the peregrine falcon in North America appear successful with no indication of recent decline, at least from the northern latitude range-wide perspective. The results also further highlight the importance of archiving samples and their use for continual assessment of population recovery and long-term viability. PMID:21124969

CIDR

Science.gov Websites

[3,4] and population genetics studies [5,6]. Applicants can use CIDR sequencing and genotyping services Washington Genetics Coordinating Center (GCC) may also be possible. Please inquire with any questions about

Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective.

PubMed

Lewis, Celine; Hill, Melissa; Skirton, Heather; Chitty, Lyn S

2012-11-01

Prenatal fetal sex determination is clinically indicated for women who are at risk of having a child with a serious genetic disorder affecting a particular sex. Ultrasound has been the traditional method used, but early fetal sex determination using non-invasive prenatal diagnosis (NIPD) can now be performed using cell-free fetal DNA in maternal plasma. The study aim was to assess the views and experiences of service users who had used NIPD for fetal sex determination. In this paper, we report on the perceived benefits and disadvantages. A qualitative approach using semi-structured interviews was used. A total of 44 participants (38 women and 6 partners of participating women) were recruited. Participants' views and experiences of NIPD were overwhelmingly positive. Concerning benefits over traditional methods, three themes emerged: (1) technical aspects of technology; (2) timing; and (3) enhanced decision-making. Practical advantages of NIPD included avoiding miscarriage, and there were a number of psychological advantages associated with timing such as perceived control, early re-engagement, normalization of pregnancy and peace of mind. Participants also valued NIPD as it enabled a stepwise approach to decision-making. A number of disadvantages were discussed including concerns about social sexing and increased bonding at a time in pregnancy when miscarriage risk is high. However, participants felt these were fairly minor in comparison with the advantages of NIPD. Until definitive genetic diagnosis using NIPD is available, NIPD for fetal sex determination is perceived as a good interim measure with a number of notable advantages over traditional methods.

Non-invasive prenatal diagnosis for fetal sex determination: benefits and disadvantages from the service users' perspective

PubMed Central

Lewis, Celine; Hill, Melissa; Skirton, Heather; Chitty, Lyn S

2012-01-01

Prenatal fetal sex determination is clinically indicated for women who are at risk of having a child with a serious genetic disorder affecting a particular sex. Ultrasound has been the traditional method used, but early fetal sex determination using non-invasive prenatal diagnosis (NIPD) can now be performed using cell-free fetal DNA in maternal plasma. The study aim was to assess the views and experiences of service users who had used NIPD for fetal sex determination. In this paper, we report on the perceived benefits and disadvantages. A qualitative approach using semi-structured interviews was used. A total of 44 participants (38 women and 6 partners of participating women) were recruited. Participants' views and experiences of NIPD were overwhelmingly positive. Concerning benefits over traditional methods, three themes emerged: (1) technical aspects of technology; (2) timing; and (3) enhanced decision-making. Practical advantages of NIPD included avoiding miscarriage, and there were a number of psychological advantages associated with timing such as perceived control, early re-engagement, normalization of pregnancy and peace of mind. Participants also valued NIPD as it enabled a stepwise approach to decision-making. A number of disadvantages were discussed including concerns about social sexing and increased bonding at a time in pregnancy when miscarriage risk is high. However, participants felt these were fairly minor in comparison with the advantages of NIPD. Until definitive genetic diagnosis using NIPD is available, NIPD for fetal sex determination is perceived as a good interim measure with a number of notable advantages over traditional methods. PMID:22453293

Genetic correlations among body condition score, yield, and fertility in first-parity cows estimated by random regression models.

PubMed

Veerkamp, R F; Koenen, E P; De Jong, G

2001-10-01

Twenty type classifiers scored body condition (BCS) of 91,738 first-parity cows from 601 sires and 5518 maternal grandsires. Fertility data during first lactation were extracted for 177,220 cows, of which 67,278 also had a BCS observation, and first-lactation 305-d milk, fat, and protein yields were added for 180,631 cows. Heritabilities and genetic correlations were estimated using a sire-maternal grandsire model. Heritability of BCS was 0.38. Heritabilities for fertility traits were low (0.01 to 0.07), but genetic standard deviations were substantial, 9 d for days to first service and calving interval, 0.25 for number of services, and 5% for first-service conception. Phenotypic correlations between fertility and yield or BCS were small (-0.15 to 0.20). Genetic correlations between yield and all fertility traits were unfavorable (0.37 to 0.74). Genetic correlations with BCS were between -0.4 and -0.6 for calving interval and days to first service. Random regression analysis (RR) showed that correlations changed with days in milk for BCS. Little agreement was found between variances and correlations from RR, and analysis including a single month (mo 1 to 10) of data for BCS, especially during early and late lactation. However, this was due to excluding data from the conventional analysis, rather than due to the polynomials used. RR and a conventional five-traits model where BCS in mo 1, 4, 7, and 10 was treated as a separate traits (plus yield or fertility) gave similar results. Thus a parsimonious random regression model gave more realistic estimates for the (co)variances than a series of bivariate analysis on subsets of the data for BCS. A higher genetic merit for yield has unfavorable effects on fertility, but the genetic correlation suggests that BCS (at some stages of lactation) might help to alleviate the unfavorable effect of selection for higher yield on fertility.

76 FR 35396 - Notice of Intent To Reestablish the National Genetic Resources Advisory Council, and Request for...

Federal Register 2010, 2011, 2012, 2013, 2014

2011-06-17

... DEPARTMENT OF AGRICULTURE Agricultural Research Service Notice of Intent To Reestablish the National Genetic Resources Advisory Council, and Request for Nominations AGENCY: Agricultural Research... intent to reestablish the National Genetic Resources Advisory Council. The notice was published in the...

A Comparison of Telephone Genetic Counseling and In-Person Genetic Counseling from the Genetic Counselor's Perspective.

PubMed

Burgess, Kelly R; Carmany, Erin P; Trepanier, Angela M

2016-02-01

Growing demand for and limited geographic access to genetic counseling services is increasing the need for alternative service delivery models (SDM) like telephone genetic counseling (TGC). Little research has been done on genetic counselors' perspectives of the practice of TGC. We created an anonymous online survey to assess whether telephone genetic counselors believed the tasks identified in the ABGC (American Board of Genetic Counseling) Practice Analysis were performed similarly or differently in TGC compared to in person genetic counseling (IPGC). If there were differences noted, we sought to determine the nature of the differences and if additional training might be needed to address them. Eighty eight genetic counselors with experience in TGC completed some or all of the survey. Respondents identified differences in 13 (14.8%) of the 88 tasks studied. The tasks identified as most different in TGC were: "establishing rapport through verbal and nonverbal interactions" (60.2%; 50/83 respondents identified the task as different), "recognizing factors affecting the counseling interaction" (47.8%; 32/67), "assessing client/family emotions, support, etc." (40.1%; 27/66) and "educating clients about basic genetic concepts" (35.6%; 26/73). A slight majority (53.8%; 35/65) felt additional training was needed to communicate information without visual aids and more effectively perform psychosocial assessments. In summary, although a majority of genetic counseling tasks are performed similarly between TGC and IPGC, TGC counselors recognize that specific training in the TGC model may be needed to address the key differences.

A model of genetic guidance for hemoglobinopathy patients and laboratory diagnosis of family members as educational and preventive measures

PubMed Central

Ferreira, Tatiana Dela-Sávia; Freire, Adriana Sousa; Silveira-Lacerda, Elisângela de Paula; García-Zapata, Marco Túlio Antônio

2012-01-01

Background: The high frequency of hemoglobinopathies in Brazil constitutes a public health problem and thus educational and preventive measures are necessary to reduce the incidence. Genetic guidance, a modality of genetic counseling, and family screening are measures that can assist in reproductive decisions and mitigate clinical, psychological and social problems of families with these disorders. Objetive: The objective of the current study was to evaluate the effectiveness of educational and preventive measures for hemoglobinopathies using genetic guidance and laboratory screening of families. Methods: The diagnoses of patients with hemoglobinopathies were confirmed and then the level of knowledge about their disease was evaluated and genetic guidance was provided. Three months later, the level of assimilated information of these patients was evaluated. In addition, laboratory diagnosis of family members was carried out. Results: Diagnosis of sickle cell anemia was confirmed for most patients. Moreover, the majority of the patients who had a low level of knowledge before genetic guidance (68.8%) demonstrated a higher level of assimilated information after the process (81.8%). Almost 70% of the family members had hemoglobin changes and some had hemoglobinopathies(2.6%). They were duly informed about the results of the examinations, which made it possible to investigate further. Conclusion: Genetic guidance and family screening were effective preventive and educational measures that improved the quality of life of patients, preventing complications and sequels and allowed the referral of those who may transmit altered genes for clinical diagnosis and to genetic counseling services. PMID:23125541

A collaborative approach to cancer risk assessment services using genetic counselor extenders in a multi-system community hospital.

PubMed

Cohen, Stephanie A; Nixon, Dawn M

2016-10-01

This study aimed to evaluate a unique approach to cancer risk assessment for improved access by smaller rural communities. Local, on-site nurse navigators were trained and utilized as genetic counselor extenders (GCEs) to provide basic risk assessment and offer BRCA1/2 genetic testing to select patients based on a triaging process in collaboration with board-certified genetic counselors (CGCs). From August 2012 to July 2014, 12,477 family history questionnaires representing 8937 unique patients presenting for a screening mammogram or new oncology appointment were triaged. Of these, 8.2 % patients were identified at increased risk for hereditary breast cancer, and 4.2 % were identified at increased risk for other hereditary causes of cancer. A total of 75 of 1130 at-risk patients identified (6.6 %) completed a genetic risk assessment appointment; 23 with a GCE and 52 with a CGC. A review of the completed genetic test requisition forms from a 9-year pre-collaboration time period found that 16 % (20/125) did not appear to meet genetic testing criteria. Overall, there was a fourfold increase in patients accessing genetic services in this study period compared to the pre-collaboration time period. Efficiency of this model was assessed by determining time spent by the CGC in all activities related to the collaboration, which amounted to approximately 16 h/month. Adjustments have been made and the program continues to be monitored for opportunities to improve efficiency. This study demonstrates the feasibility of CGCs and GCEs collaborating to improve access to quality services in an efficient manner.

A nationwide genetic testing survey in Italy, year 2007.

PubMed

Dallapiccola, Bruno; Torrente, Isabella; Agolini, Emanuele; Morena, Arnaldo; Mingarelli, Rita

2010-02-01

The aim of this study was to collect the practices of cytogenetic and molecular genetic testing and genetic counseling activities in Italy in the year 2007 and provide guidance to the national and regional health systems to improve the organization of genetic services. A web-based survey was carried out to assess the total number and the type of analyses, the number and type of genetic counseling sessions, and the personnel attending these activities. The quality management system of the responding structures, in terms of certification and accreditation standards, was also investigated. The appropriateness of requests for genetic testing was evaluated for six disorders. Data were collected from 278 responding centers, half of which were located in the northern regions of the country. Twenty-eight percent of the total were certified according to quality standards. A total of 217 molecular genetic and 171 cytogenetic laboratories, and 102 clinical genetic services were surveyed. About 560,000 genetic tests, including 311,069 cytogenetic and 248,691 molecular genetic analyses of 556 genes, were recorded. The fetal karyotype was examined on either trophoblast or amniocytes in about one of every 4.4 pregnancies. Only 11.5% of cytogenetic analyses and 13.5% of molecular tests were accompanied by genetic counseling. Concerning the appropriateness of a request for genetic testing, a low congruity was found between the clinical diagnosis and the laboratory results. This study highlights the need for reorganizing the genetic structure network in Italy, which at present is oversized, improving the quality management systems, expanding the availability of testing for rare disease genes, and improving access to pretest and posttest genetic counseling.

Patients with Amyotrophic Lateral Sclerosis Have High Interest in and Limited Access to Genetic Testing.

PubMed

Wagner, Karin N; Nagaraja, Haikady; Allain, Dawn C; Quick, Adam; Kolb, Stephen; Roggenbuck, Jennifer

2017-06-01

Although genetic testing for amyotrophic lateral sclerosis (ALS) is widely available, it is unknown what proportion of patients with ALS have access to genetic counseling and testing, and patient attitudes towards ALS genetic testing have not been studied. We conducted a national survey of ALS patients enrolled in the Agency for Toxic Substances and Disease Registry, which consisted of multiple choice questions and two 12 item Likert scale series assessing respondents' experience with and attitude toward genetic testing. The survey had an 8 % response rate, with 449 completed responses. Genetic testing was offered to 33.4 % and completed by 67.1 % of those offered. A minority of respondents (12.5 %) saw a genetic counselor, and were much more likely to be offered genetic testing (p = 0.0001). Respondents with a family history of ALS (8.4 %) were more likely to be offered testing (p = 0.0001) and complete testing (p = 0.05). Respondents with a family history of ALS were more likely to report a favorable attitude towards genetic testing (p = 0.0003), as were respondents who saw a genetic counselor (p = 0.02). The majority of respondents (82.7 %) felt that genetic testing should be offered to all patients with ALS. Our results indicate that ALS patients may have limited access to genetic testing, but perceive benefit from this service. Development of practice guidelines for genetic testing in ALS, to include the routine offer of genetic counseling, may result in broader and more consistent access to these services.

Rare disease landscape in Brazil: report of a successful experience in inborn errors of metabolism.

PubMed

Giugliani, Roberto; Vairo, Filippo P; Riegel, Mariluce; de Souza, Carolina F M; Schwartz, Ida V D; Pena, Sérgio D J

2016-06-10

Brazil is a country of continental dimensions, with many social inequalities. The latter are reflected on its health system, which comprises a large public component called SUS, a small paid health insurance component and a third very small private component, in which patients pay personally for medical services. Seventy five percent of the population depends on SUS, which thus far does not provide adequate coverage for genetic medical procedures. In 2014, SUS introduced the "Policy for the Integral Attention to Subjects with Rare Diseases", establishing guidelines for offering diagnosis and treatment. The policy defines the two main axes, genetic and non-genetic rare diseases. In this fashion, public genetic services in SUS will be installed and funded not by themselves, but as part of the more general policy of rare diseases. Unfortunately, up to now this policy is still depending on financial allowances to be effectively launched. In this article, our intention was to describe activities developed in the area of inborn errors of metabolism by a Brazilian reference center. In spite of the lack of support of SUS, thousands of Brazilian families affected by rare genetic metabolic disorders, and many health professionals from all regions of Brazil, already have benefited from the services, training programs and research projects provided by this comprehensive center.

Genetic and Non-Genetic Factors Affecting the Quality of Anticoagulation Control and Vascular Events in Atrial Fibrillation.

PubMed

Park, Yun Kyung; Lee, Mi Ji; Kim, Jae Ha; Lee, Jin Soo; Park, Rae Woong; Kim, Gyeong-Moon; Chung, Chin-Sang; Lee, Kwang Ho; Kim, June Soo; Lee, Soo-Youn; Bang, Oh Young

2017-06-01

Warfarin has a narrow therapeutic window. We hypothesized that genetic factors related to warfarin metabolism (CYP2C9) and activity (VKORC1) would show stronger associations than modifiable factors with the quality of anticoagulation control and risks for thromboembolism and hemorrhage. In this retrospective cohort analysis, clinical and genetic data were collected from 380 patients with atrial fibrillation (AF) who were followed for an average observation period of 4 years. We evaluated the factors associated with time in therapeutic range (TTR, international normalized ratio [INR]: 2-3) and vascular events (either thromboembolic or hemorrhagic), including both genetic (CYP2C9 and VKORC1 genotype) and modifiable factors (anticoagulation service and warfarin dose assessment interval). The genotypic frequency of CYP2C9*3 (rs1057910) was 9.5% and that of VKORC1 1173C>T (rs9934438) was 16.3%. TTR showed dependence on VKORC1 polymorphism: TTR was higher in carriers of the VKORC1 1173C>T than of the VKORC1 TT genotype (61.7 ± 16.0% versus 56.7 ± 17.4%, P = .031). Multivariate testing showed that the VKORC1 genotype and anticoagulation service were independently related to labile INRs (TTR <65%). Vascular events were observed in 66 patients (18.4%) during the study period. A Cox proportional hazard model showed that the use of anticoagulation service and patients' characteristics, such as AF-thromboembolic risk (CHA 2 DS 2 -VASc score: Congestive heart failure, Hypertension, Age 75 years or older, Diabetes mellitus, previous Stroke or transient ischemic attack, Vascular disease, Age 65 to 74 years, female) and consequence (neurologic disability), but not genetic factors, were independently associated with vascular events. Both genetic factor (VKORC1 genotype) and clinical efforts (anticoagulation service) influenced the quality of anticoagulation control. However, clinical events were more strongly associated with patient characteristics and clinical efforts than with genetic factors. Copyright © 2017 National Stroke Association. Published by Elsevier Inc. All rights reserved.

Genethics: project accountability via evaluation of teacher and student growth.

PubMed

Hendrix, J R; Mertens, T R

1992-10-01

Accountability through demonstrated learning is increasingly being demanded by agencies funding science education projects. For example, the National Science Foundation requires evidence of the educational impact of programs designed to increase the scientific understanding and competencies of teachers and their students. The purpose of this paper is to share our human genetics educational experiences and accountability model with colleagues interested in serving the genetics educational needs of in-service secondary school science teachers and their students. Our accountability model is facilitated through (1) identifying the educational needs of the population of teachers to be served, (2) articulating goals and measurable objectives to meet these needs, and (3) then designing and implementing pretest/posttest questions to measure whether the objectives have been achieved. Comparison of entry and exit levels of performance on a 50-item test showed that teacher-participants learned a statistically significant amount of genetics content in our NSF-funded workshops. Teachers, in turn, administered a 25-item pretest/posttest to their secondary school students, and collective data from 121 classrooms across the United States revealed statistically significant increases in student knowledge of genetics content. Methods describing our attempts to evaluate teachers' use of pedagogical techniques and bioethical decision-making skills are briefly addressed.

Stochastic Set-Based Particle Swarm Optimization Based on Local Exploration for Solving the Carpool Service Problem.

PubMed

Chou, Sheng-Kai; Jiau, Ming-Kai; Huang, Shih-Chia

2016-08-01

The growing ubiquity of vehicles has led to increased concerns about environmental issues. These concerns can be mitigated by implementing an effective carpool service. In an intelligent carpool system, an automated service process assists carpool participants in determining routes and matches. It is a discrete optimization problem that involves a system-wide condition as well as participants' expectations. In this paper, we solve the carpool service problem (CSP) to provide satisfactory ride matches. To this end, we developed a particle swarm carpool algorithm based on stochastic set-based particle swarm optimization (PSO). Our method introduces stochastic coding to augment traditional particles, and uses three terminologies to represent a particle: 1) particle position; 2) particle view; and 3) particle velocity. In this way, the set-based PSO (S-PSO) can be realized by local exploration. In the simulation and experiments, two kind of discrete PSOs-S-PSO and binary PSO (BPSO)-and a genetic algorithm (GA) are compared and examined using tested benchmarks that simulate a real-world metropolis. We observed that the S-PSO outperformed the BPSO and the GA thoroughly. Moreover, our method yielded the best result in a statistical test and successfully obtained numerical results for meeting the optimization objectives of the CSP.

A Single-Lap Joint Adhesive Bonding Optimization Method Using Gradient and Genetic Algorithms

NASA Technical Reports Server (NTRS)

Smeltzer, Stanley S., III; Finckenor, Jeffrey L.

1999-01-01

A natural process for any engineer, scientist, educator, etc. is to seek the most efficient method for accomplishing a given task. In the case of structural design, an area that has a significant impact on the structural efficiency is joint design. Unless the structure is machined from a solid block of material, the individual components which compose the overall structure must be joined together. The method for joining a structure varies depending on the applied loads, material, assembly and disassembly requirements, service life, environment, etc. Using both metallic and fiber reinforced plastic materials limits the user to two methods or a combination of these methods for joining the components into one structure. The first is mechanical fastening and the second is adhesive bonding. Mechanical fastening is by far the most popular joining technique; however, in terms of structural efficiency, adhesive bonding provides a superior joint since the load is distributed uniformly across the joint. The purpose of this paper is to develop a method for optimizing single-lap joint adhesive bonded structures using both gradient and genetic algorithms and comparing the solution process for each method. The goal of the single-lap joint optimization is to find the most efficient structure that meets the imposed requirements while still remaining as lightweight, economical, and reliable as possible. For the single-lap joint, an optimum joint is determined by minimizing the weight of the overall joint based on constraints from adhesive strengths as well as empirically derived rules. The analytical solution of the sin-le-lap joint is determined using the classical Goland-Reissner technique for case 2 type adhesive joints. Joint weight minimization is achieved using a commercially available routine, Design Optimization Tool (DOT), for the gradient solution while an author developed method is used for the genetic algorithm solution. Results illustrate the critical design variables as a function of adhesive properties and convergences of different joints based on the two optimization methods.

Genetic diversity in aspen and its relation to arthropod abundance

PubMed Central

Zhang, Chunxia; Vornam, Barbara; Volmer, Katharina; Prinz, Kathleen; Kleemann, Frauke; Köhler, Lars; Polle, Andrea; Finkeldey, Reiner

2015-01-01

The ecological consequences of biodiversity have become a prominent public issue. Little is known on the effect of genetic diversity on ecosystem services. Here, a diversity experiment was established with European and North American aspen (Populus tremula, P. tremuloides) planted in plots representing either a single deme only or combinations of two, four and eight demes. The goals of this study were to explore the complex inter- and intraspecific genetic diversity of aspen and to then relate three measures for diversity (deme diversity, genetic diversity determined as Shannon index or as expected heterozygosity) to arthropod abundance. Microsatellite and AFLP markers were used to analyze the genetic variation patterns within and between the aspen demes and deme mixtures. Large differences were observed regarding the genetic diversity within demes. An analysis of molecular variance revealed that most of the total genetic diversity was found within demes, but the genetic differentiation among demes was also high. The complex patterns of genetic diversity and differentiation resulted in large differences of the genetic variation within plots. The average diversity increased from plots with only one deme to plots with two, four, and eight demes, respectively and separated plots with and without American aspen. To test whether intra- and interspecific diversity impacts on ecosystem services, arthropod abundance was determined. Increasing genetic diversity of aspen was related to increasing abundance of arthropods. However, the relationship was mainly driven by the presence of American aspen suggesting that species identity overrode the effect of intraspecific variation of European aspen. PMID:25674097

Design and implementation of a library-based information service in molecular biology and genetics at the University of Pittsburgh

PubMed Central

Chattopadhyay, Ansuman; Tannery, Nancy Hrinya; Silverman, Deborah A. L.; Bergen, Phillip; Epstein, Barbara A.

2006-01-01

Setting: In summer 2002, the Health Sciences Library System (HSLS) at the University of Pittsburgh initiated an information service in molecular biology and genetics to assist researchers with identifying and utilizing bioinformatics tools. Program Components: This novel information service comprises hands-on training workshops and consultation on the use of bioinformatics tools. The HSLS also provides an electronic portal and networked access to public and commercial molecular biology databases and software packages. Evaluation Mechanisms: Researcher feedback gathered during the first three years of workshops and individual consultation indicate that the information service is meeting user needs. Next Steps/Future Directions: The service's workshop offerings will expand to include emerging bioinformatics topics. A frequently asked questions database is also being developed to reuse advice on complex bioinformatics questions. PMID:16888665

76 FR 6623 - Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee; Notice of Meeting

Federal Register 2010, 2011, 2012, 2013, 2014

2011-02-07

... DEPARTMENT OF HEALTH AND HUMAN SERVICES Food and Drug Administration [Docket No. FDA-2011-N-0066] Molecular and Clinical Genetics Panel of the Medical Devices Advisory Committee; Notice of Meeting AGENCY... public. Name of Committee: Molecular and Clinical Genetics Panel of the Medical Devices Advisory...

Cancer Predisposition Cascade Screening for Hereditary Breast/Ovarian Cancer and Lynch Syndromes in Switzerland: Study Protocol

PubMed Central

Bührer-Landolt, Rosmarie; Graffeo, Rossella; Horváth, Henrik Csaba; Kurzeder, Christian; Rabaglio, Manuela; Scharfe, Michael; Urech, Corinne; Erlanger, Tobias E; Probst-Hensch, Nicole

2017-01-01

Background Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland, affecting more than 12,000 individuals annually. Hundreds of these patients are likely to carry germline pathogenic variants associated with hereditary breast ovarian cancer (HBOC) or Lynch syndrome (LS). Genetic services (counseling and testing) for hereditary susceptibility to cancer can prevent many cancer diagnoses and deaths through early identification and risk management. Objective Cascade screening is the systematic identification and testing of relatives of a known mutation carrier. It determines whether asymptomatic relatives also carry the known variant, needing management options to reduce future harmful outcomes. Specific aims of the CASCADE study are to (1) survey index cases with HBOC or LS from clinic-based genetic testing records and determine their current cancer status and surveillance practices, needs for coordination of medical care, psychosocial needs, patient-provider and patient-family communication, quality of life, and willingness to serve as advocates for cancer genetic services to blood relatives, (2) survey first- and second-degree relatives and first-cousins identified from pedigrees or family history records of HBOC and LS index cases and determine their current cancer and mutation status, cancer surveillance practices, needs for coordination of medical care, barriers and facilitators to using cancer genetic services, psychosocial needs, patient-provider and patient-family communication, quality of life, and willingness to participate in a study designed to increase use of cancer genetic services, and (3) explore the influence of patient-provider communication about genetic cancer risk on patient-family communication and the acceptability of a family-based communication, coping, and decision support intervention with focus group(s) of mutation carriers and relatives. Methods CASCADE is a longitudinal study using surveys (online or paper/pencil) and focus groups, designed to elicit factors that enhance cascade genetic testing for HBOC and LS in Switzerland. Repeated observations are the optimal way for assessing these outcomes. Focus groups will examine barriers in patient-provider and patient-family communication, and the acceptability of a family-based communication, coping, and decision-support intervention. The survey will be developed in English, translated into three languages (German, French, and Italian), and back-translated into English, except for scales with validated versions in these languages. Results Descriptive analyses will include calculating means, standard deviations, frequencies, and percentages of variables and participant descriptors. Bivariate analyses (Pearson correlations, chi-square test for differences in proportions, and t test for differences in means) will assess associations between demographics and clinical characteristics. Regression analyses will incorporate generalized estimating equations for pairing index cases with their relatives and explore whether predictors are in direct, mediating, or moderating relationship to an outcome. Focus group data will be transcribed verbatim and analyzed for common themes. Conclusions Robust evidence from basic science and descriptive population-based studies in Switzerland support the necessity of cascade screening for genetic predisposition to HBOC and LS. CASCADE is designed to address translation of this knowledge into public health interventions. Trial Registration ClinicalTrials.gov NCT03124212; https://clinicaltrials.gov/ct2/show/NCT03124212 (Archived by WebCite at http://www.webcitation.org/6tKZnNDBt) PMID:28931501

Genetics of Hearing Loss

MedlinePlus

... Hearing Loss Homepage Basics Noise-Induced Hearing Loss Genetics of Hearing Loss Screening & Diagnosis Types of Hearing Loss About Sound Treatment & Intervention Services Learning Language Bacterial Meningitis Studies Data & Statistics EHDI Annual Data 2016 2015 2014 2013 ...

On the Genetic and Environmental Correlations between Trait Emotional Intelligence and Vocational Interest Factors.

PubMed

Schermer, Julie Aitken; Petrides, Konstantinos V; Vernon, Philip A

2015-04-01

The phenotypic (observed), genetic, and environmental correlations were examined in a sample of adult twins between the four factors and global score of the trait emotional intelligence questionnaire (TEIQue) and the seven vocational interest factors of the Jackson Career Explorer (JCE). Multiple significant correlations were found involving the work style vocational interest factor (consisting of job security, stamina, accountability, planfulness, and interpersonal confidence) and the social vocational interest factor (which included interests in the social sciences, personal services, teaching, social services, and elementary education), both of which correlated significantly with all of the TEIQue variables (well-being, self-control, emotionality, sociability, and global trait EI). Following bivariate genetic analyses, most of the significant phenotypic correlations were found to also have significant genetic correlations as well as significant non-shared (unique) environmental correlations.

Genetic privacy in sports: clearing the hurdles.

PubMed

Callier, Shawneequa

2012-12-01

As genomic medicine continues to advance and inform clinical care, knowledge gained is likely to influence sports medicine and training practices. Susceptibility to injury, sudden cardiac failure, and other serious conditions may one day be tackled on a subclinical level through genetic testing programs. In addition, athletes may increasingly consider using genetic testing services to maximize their performance potential. This paper assesses the role of privacy and genetic discrimination laws that would apply to athletes who engage in genetic testing and the limits of these protections.

Ethnic, racial and cultural identity and perceived benefits and barriers related to genetic testing for breast cancer among at-risk women of African descent in New York City.

PubMed

Sussner, K M; Edwards, T A; Thompson, H S; Jandorf, L; Kwate, N O; Forman, A; Brown, K; Kapil-Pair, N; Bovbjerg, D H; Schwartz, M D; Valdimarsdottir, H B

2011-01-01

Due to disparities in the use of genetic services, there has been growing interest in examining beliefs and attitudes related to genetic testing for breast and/or ovarian cancer risk among women of African descent. However, to date, few studies have addressed critical cultural variations among this minority group and their influence on such beliefs and attitudes. We assessed ethnic, racial and cultural identity and examined their relationships with perceived benefits and barriers related to genetic testing for cancer risk in a sample of 160 women of African descent (49% self-identified African American, 39% Black-West Indian/Caribbean, 12% Black-Other) who met genetic risk criteria and were participating in a larger longitudinal study including the opportunity for free genetic counseling and testing in New York City. All participants completed the following previously validated measures: (a) the multi-group ethnic identity measure (including ethnic search and affirmation subscales) and other-group orientation for ethnic identity, (b) centrality to assess racial identity, and (c) Africentrism to measure cultural identity. Perceived benefits and barriers related to genetic testing included: (1) pros/advantages (including family-related pros), (2) cons/disadvantages (including family-related cons, stigma and confidentiality concerns), and (3) concerns about abuses of genetic testing. In multivariate analyses, several ethnic identity elements showed significant, largely positive relationships to perceived benefits about genetic testing for breast and/or ovarian cancer risk, the exception being ethnic search, which was positively associated with cons/disadvantages, in general, and family-related cons/disadvantages. Racial identity (centrality) showed a significant association with confidentiality concerns. Cultural identity (Africentrism) was not related to perceived benefits and/or barriers. Ethnic and racial identity may influence perceived benefits and barriers related to genetic testing for breast and/or ovarian cancer risk among at-risk women of African descent. Genetic counseling services may want to take into account these factors in the creation of culturally-appropriate services which best meet the needs of this heterogenous population. Copyright © 2011 S. Karger AG, Basel.

Design, implementation and application of distributed order PI control.

PubMed

Zhou, Fengyu; Zhao, Yang; Li, Yan; Chen, YangQuan

2013-05-01

In this paper, a series of distributed order PI controller design methods are derived and applied to the robust control of wheeled service robots, which can tolerate more structural and parametric uncertainties than the corresponding fractional order PI control. A practical discrete incremental distributed order PI control strategy is proposed basing on the discretization method and the frequency criterions, which can be commonly used in many fields of fractional order system, control and signal processing. Besides, an auto-tuning strategy and the genetic algorithm are applied to the distributed order PI control as well. A number of experimental results are provided to show the advantages and distinguished features of the discussed methods in fairways. Copyright © 2012 ISA. Published by Elsevier Ltd. All rights reserved.

Social contract theory and just decision making: lessons from genetic testing for the BRCA mutations.

PubMed

Williams-Jones, Bryn; Burgess, Michael M

2004-06-01

Decisions about funding health services are crucial to controlling costs in health care insurance plans, yet they encounter serious challenges from intellectual property protection--e.g., patents--of health care services. Using Myriad Genetics' commercial genetic susceptibility test for hereditary breast cancer (BRCA testing) in the context of the Canadian health insurance system as a case study, this paper applies concepts from social contract theory to help develop more just and rational approaches to health care decision making. Specifically, Daniel's and Sabin's "accountability for reasonableness" is compared to broader notions of public consultation, demonstrating that expert assessments in specific decisions must be transparent and accountable and supplemented by public consultation.

Underage Drinking: MedlinePlus Health Topic

MedlinePlus

... on Alcohol Abuse and Alcoholism) Treatments and Therapies Substance Abuse Treatment for Children and Adolescents: Questions to Ask ( ... With Your College-Bound Young Adult About Alcohol (Substance Abuse and Mental Health Services Administration) - PDF Genetics Genetics ...

7 CFR 4280.305 - Nondiscrimination and compliance with other Federal laws.

Code of Federal Regulations, 2011 CFR

2011-01-01

...) RURAL BUSINESS-COOPERATIVE SERVICE AND RURAL UTILITIES SERVICE, DEPARTMENT OF AGRICULTURE LOANS AND... status, parental status, religion, sexual orientation, genetic information, political beliefs, reprisal...

Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective

PubMed Central

Willis, T A; Potrata, B; Ahmed, M; Hewison, J; Gale, R; Downey, L; McKibbin, M

2013-01-01

Background/aims The views of people with inherited retinal disease are important to help develop health policy and plan services. This study aimed to record levels of understanding of and attitudes to genetic testing for inherited retinal disease, and views on the availability of testing. Methods Telephone questionnaires comprising quantitative and qualitative items were completed with adults with inherited retinal disease. Participants were recruited via postal invitation (response rate 48%), approach at clinic or newsletters of relevant charitable organisations. Results Questionnaires were completed with 200 participants. Responses indicated that participants’ perceived understanding of genetic testing for inherited retinal disease was variable. The majority (90%) considered testing to be good/very good and would be likely to undergo genetic testing (90%) if offered. Most supported the provision of diagnostic (97%) and predictive (92%) testing, but support was less strong for testing as part of reproductive planning. Most (87%) agreed with the statement that testing should be offered only after the individual has received genetic counselling from a professional. Subgroup analyses revealed differences associated with participant age, gender, education level and ethnicity (p<0.02). Participants reported a range of perceived benefits (eg, family planning, access to treatment) and risks (eg, impact upon family relationships, emotional consequences). Conclusions Adults with inherited retinal disease strongly support the provision of publicly funded genetic testing. Support was stronger for diagnostic and predictive testing than for testing as part of reproductive planning. PMID:23813418

Portrait of the Master Genetic Counselor Clinician: A Qualitative Investigation of Expertise in Genetic Counseling.

PubMed

Miranda, Cacy; Veach, Patricia McCarthy; Martyr, Meredith A; LeRoy, Bonnie S

2016-08-01

This study comprises an initial empirical description of personal and professional characteristics of master genetic counselors-those considered to be experts in the profession. Fifteen peer-nominated genetic counselors, actively engaged in providing clinical services to patients, participated in semi-structured telephone interviews exploring their personal qualities, inspirations, and perspectives on professional development of expertise. Analysis using modified Consensual Qualitative Research methods yielded 7 domains and 33 categories. Findings indicate master genetic counselors have a strong passion for and dynamic commitment to the profession. They also have insatiable curiosity and are life-long learners who are reflective, self-aware, confident, and recognize their limitations. They are authentic and genuine, and consider their personality to be their counseling style. They form collaborative and interactive relationships with patients based on trust, and they have nuanced attunement to the complexity and multiple levels of the counseling process. Master genetic counselors have deep empathy and are inspired by patients and colleagues, and they derive personal meaning from their work. They are affected emotionally by their work, but effectively manage the emotional impact. They view their professional development as ongoing, influenced by colleagues, patients, mentoring, multicultural considerations, and their own family of origin. They also believe professional development of expertise occurs through critical reflection upon the experiences one accrues. Additional findings and their relationship to theory and research, study strengths and limitations, implication for training and practice, and research recommendation are discussed.

role of seed analysis in genetic conservation

Treesearch

V.G. Vankus; R.P. Karrfalt

2017-01-01

Long term storage of seeds at freezing temperatures is one strategy for genetic conservation of tree species. It can be used to preserve species that produce seeds that remain viable after drying to a low seed moisture content. The U.S. Department of Agriculture Forest Service (USDA FS) National Seed Laboratory (NSL) began long term seed storage for genetic...

Undergraduates Achieve Learning Gains in Plant Genetics through Peer Teaching of Secondary Students

ERIC Educational Resources Information Center

Chrispeels, H. E.; Klosterman, M. L.; Martin, J. B.; Lundy, S. R.; Watkins, J. M.; Gibson, C. L.; Muday, G. K.

2014-01-01

This study tests the hypothesis that undergraduates who peer teach genetics will have greater understanding of genetic and molecular biology concepts as a result of their teaching experiences. Undergraduates enrolled in a non-majors biology course participated in a service-learning program in which they led middle school (MS) or high school (HS)…

[Health insurance companies and medical genetics, what do they want to know? Expert opinions concerning medical genetic services].

PubMed

Nippert, Reinhart Peter; Schmidtke, J

2012-03-01

Based on the compilation of medical opinions delivered by a medical genetic expert between 2002 and 2010, solicited by private health insurance companies in Germany, an analysis of the main issues raised was made to identify the information needs of company employees with respect to human and medical genetics. The findings are discussed and recommendations for improvement and further training are suggested.

Civilian and Military Genetics: Nondiscrimination Policy in a Post-GINA World

PubMed Central

Baruch, Susannah; Hudson, Kathy

2008-01-01

Evidence is emerging of a growing societal consensus about appropriate and inappropriate uses of genetic information. The Genetic Information Nondiscrimination Act of 2008 provides new legal protections to Americans by prohibiting the discriminatory use of genetic information by health insurers and employers. Additionally, the United States military recently created new policies for fair use of genetic information in the determination of benefits for servicemen and servicewomen leaving military service. Although critical issues remain, such as the potential for genetic information to be used to deny people other forms of insurance, and how the military will use genetic medicine overall, significant progress has been made. PMID:18940308

Optimising clinical practice in cancer genetics with cultural competence: lessons to be learned from ethnographic research with Chinese-Australians.

PubMed

Eisenbruch, Maurice; Yeo, Soo See; Meiser, Bettina; Goldstein, David; Tucker, Kathy; Barlow-Stewart, Kristine

2004-07-01

Hereditary cancer is about families, and clinicians and genetic counsellors need to understand the cultural beliefs of patients and families about cancer and inheritance. In the light of their kinship patterns Chinese-Australians were chosen for the present study, which aims to determine the explanatory models of inheritance, cancer, and inherited cancer, with a view to identifying the relationship between these culture-specific lay attributions and help-seeking behaviour, and to identify possible barriers to genetic counselling and testing. Qualitative ethnographically informed methodology involving semi-structured interview was used as a method to uncover latent beliefs held by the families who are represented by the subjects. In-depth interviews were conducted with 16 informants of Chinese ethnicity, who had been recruited through two major Sydney familial cancer clinics. We report the attributions of cancer in general, then on inheritance, kinship, genes and genetics and then focus on the way in which these beliefs come together around hereditary cancer. The majority of informants, despite high acculturation and belief in biomedical explanations about hereditary cancer, also acknowledged the influence of traditional family Chinese beliefs, where 'inheritance' and 'genetics' were related to retribution for ancestral misdeeds and offending ancestors. Extensive mismatch of attributes and beliefs were identified in those who attended the clinic and senior family members, creating barriers to optimal service utilisation. Three traditional patterns of beliefs were identified: (a) father and mother contributed in equal share to one's genetic makeup, linked to the ying-yang theory; (b) the dominance of life force (yang chi) and the shaping of genes were transmitted through the paternal line; and (c) natural and supernatural forces operated in the cause of hereditary cancer. The study provided guidance for clinical practice. Exploration and acknowledgement of family beliefs, regardless of cultural background and therefore avoiding stereotyping, can enable the clinician to work with the whole family-those who hold Western attributions, those who maintain traditional notions of genetics and inheritance, and those who incorporate both into their belief systems-and provide effective clinical services. Further ethnographic studies are needed, focusing on the Chinese groups who do not attend the clinic and those with lower acculturation and educational levels.

Models of service delivery for cancer genetic risk assessment and counseling.

PubMed

Trepanier, Angela M; Allain, Dawn C

2014-04-01

Increasing awareness of and the potentially concomitant increasing demand for cancer genetic services is driving the need to explore more efficient models of service delivery. The aims of this study were to determine which service delivery models are most commonly used by genetic counselors, assess how often they are used, compare the efficiency of each model as well as impact on access to services, and investigate the perceived benefits and barriers of each. Full members of the NSGC Familial Cancer Special Interest Group who subscribe to its listserv were invited to participate in a web-based survey. Eligible respondents were asked which of ten defined service delivery models they use and specific questions related to aspects of model use. One-hundred ninety-two of the approximately 450 members of the listserv responded (42.7%); 177 (92.2%) had provided clinical service in the last year and were eligible to complete all sections of the survey. The four direct care models most commonly used were the (traditional) face-to-face pre- and post-test model (92.2%), the face-to-face pretest without face-to-face post-test model (86.5%), the post-test counseling only for complex results model (36.2%), and the post test counseling for all results model (18.3%). Those using the face-to-face pretest only, post-test all, and post-test complex models reported seeing more new patients than when they used the traditional model and these differences were statistically significantly. There were no significant differences in appointment wait times or distances traveled by patients when comparing use of the traditional model to the other three models. Respondents recognize that a benefit of using alternative service delivery models is increased access to services; however, some are concerned that this may affect quality of care.

Design and optimal control of on-orbit servicing trajectory for target vehicle in non-coplanar elliptical orbit

NASA Astrophysics Data System (ADS)

Zhou, Wenyong; Yuan, Jianping; Luo, Jianjun

2005-11-01

Autonomous on-orbit servicing provides flexibility to space systems and has great value both in civil and in military. When a satellite performs on-orbit servicing tasks, flying around is the basic type of motion. This paper is concerned with the design and control problems of a chaser satellite flying around a target spacecraft in non-coplanar elliptical orbit for a long time. At first, a mathematical model used to design a long-term flying around trajectory is presented, which is applicable to the situation that the target spacecraft flies in an elliptical orbit. The conditions of the target at the centre of the flying around path are deduced. Considering the safety and task requirements, a long-term flying around trajectory is designed. Taking into account perturbations and navigation errors which can cause the trajectory unstable and mission impossible, a two-impulse control method is put forward. Genetic algorithm is used to minimize the cost function which considers fuel consumption and bias simultaneously. Some simulation works are carried out and the results indicate the flying around mathematical model and the trajectory control method can be used in the design and control of a long-term flying around trajectory.

Genetic parameters for female fertility, locomotion, body condition score, and linear type traits in Czech Holstein cattle.

PubMed

Zink, V; Štípková, M; Lassen, J

2011-10-01

The aim of this study was to estimate genetic parameters for fertility traits and linear type traits in the Czech Holstein dairy cattle population. Phenotypic data regarding 12 linear type traits, measured in first lactation, and 3 fertility traits, measured in each of first and second lactation, were collected from 2005 to 2009 in the progeny testing program of the Czech-Moravian Breeders Corporation. The number of animals for each linear type trait was 59,467, except for locomotion, where 53,436 animals were recorded. The 3-generation pedigree file included 164,125 animals. (Co)variance components were estimated using AI-REML in a series of bivariate analyses, which were implemented via the DMU package. Fertility traits included days from calving to first service (CF1), days open (DO1), and days from first to last service (FL1) in first lactation, and days from calving to first service (CF2), days open (DO2), and days from first to last service (FL2) in second lactation. The number of animals with fertility data varied between traits and ranged from 18,915 to 58,686. All heritability estimates for reproduction traits were low, ranging from 0.02 to 0.04. Heritability estimates for linear type traits ranged from 0.03 for locomotion to 0.39 for stature. Estimated genetic correlations between fertility traits and linear type traits were generally neutral or positive, whereas genetic correlations between body condition score and CF1, DO1, FL1, CF2 and DO2 were mostly negative, with the greatest correlation between BCS and CF2 (-0.51). Genetic correlations with locomotion were greatest for CF1 and CF2 (-0.34 for both). Results of this study show that cows that are genetically extreme for angularity, stature, and body depth tend to perform poorly for fertility traits. At the same time, cows that are genetically predisposed for low body condition score or high locomotion score are generally inferior in fertility. Copyright © 2011 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

Paul Polani and the development of medical genetics

PubMed Central

Harper, Peter S.

2007-01-01

Paul Polani (1914-2006) was one of the key figures internationally in the beginnings and development of medical genetics. Best remembered scientifically for his highly original work on the basis of human sex chromosome disorders, notably Turner syndrome, he pioneered the application of basic biological research to clinical genetic problems. The unit that he founded in 1960, at Guys Hospital, London, provided an unparalleled model for combined research and service in medical genetics across a wide range of laboratory areas and helped to establish medical genetics as a specific discipline. PMID:17066298

Exploring the possibility of modeling a genetic counseling guideline using agile methodology.

PubMed

Choi, Jeeyae

2013-01-01

Increased demand of genetic counseling services heightened the necessity of a computerized genetic counseling decision support system. In order to develop an effective and efficient computerized system, modeling of genetic counseling guideline is an essential step. Throughout this pilot study, Agile methodology with United Modeling Language (UML) was utilized to model a guideline. 13 tasks and 14 associated elements were extracted. Successfully constructed conceptual class and activity diagrams revealed that Agile methodology with UML was a suitable tool to modeling a genetic counseling guideline.

Comparison of genetic algorithms with conjugate gradient methods

NASA Technical Reports Server (NTRS)

Bosworth, J. L.; Foo, N. Y.; Zeigler, B. P.

1972-01-01

Genetic algorithms for mathematical function optimization are modeled on search strategies employed in natural adaptation. Comparisons of genetic algorithms with conjugate gradient methods, which were made on an IBM 1800 digital computer, show that genetic algorithms display superior performance over gradient methods for functions which are poorly behaved mathematically, for multimodal functions, and for functions obscured by additive random noise. Genetic methods offer performance comparable to gradient methods for many of the standard functions.

Using needs-based frameworks for evaluating new technologies: an application to genetic tests.

PubMed

Rogowski, Wolf H; Schleidgen, Sebastian

2015-02-01

Given the multitude of newly available genetic tests in the face of limited healthcare budgets, the European Society of Human Genetics assessed how genetic services can be prioritized fairly. Using (health) benefit maximizing frameworks for this purpose has been criticized on the grounds that rather than maximization, fairness requires meeting claims (e.g. based on medical need) equitably. This study develops a prioritization score for genetic tests to facilitate equitable allocation based on need-based claims. It includes attributes representing health need associated with hereditary conditions (severity and progression), a genetic service's suitability to alleviate need (evidence of benefit and likelihood of positive result) and costs to meet the needs. A case study for measuring the attributes is provided and a suggestion is made how need-based claims can be quantified in a priority function. Attribute weights can be informed by data from discrete-choice experiments. Further work is needed to measure the attributes across the multitude of genetic tests and to determine appropriate weights. The priority score is most likely to be considered acceptable if developed within a decision process which meets criteria of procedural fairness and if the priority score is interpreted as "strength of recommendation" rather than a fixed cut-off value. Copyright © 2014. Published by Elsevier Ireland Ltd.

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Science.gov Websites

Content Assistance Services Adult Public Assistance 888-804-6330 Child Care 888-268-4632 Chronic and Acute Cancer 800-410-6266 Fetal Alcohol Syndrome 877-393-2287 Family Planning Genetic and Pediatric Specialty

Transfusion Medicine and Molecular Genetic Methods

PubMed Central

Saleh, Rozieyati Mohamed; Zefarina, Zulkafli; Che Mat, Nor Fazila; Chambers, Geoffrey Keith; Edinur, Hisham Atan

2018-01-01

Transfusion procedures are always complicated by potential genetic mismatching between donor and recipient. Compatibility is determined by several major antigens, such as the ABO and Rhesus blood groups. Matching for other blood groups (Kell, Kidd, Duffy, and MNS), human platelet antigens, and human leukocyte antigens (HLAs) also contributes toward the successful transfusion outcomes, especially in multitransfused or highly immunized patients. All these antigens of tissue identity are highly polymorphic and thus present great challenges for finding suitable donors for transfusion patients. The ABO blood group and HLA markers are also the determinants of transplant compatibility, and mismatched antigens will cause graft rejection or graft-versus-host disease. Thus, a single and comprehensive registry covering all of the significant transfusion and transplantation antigens is expected to become an important tool in providing an efficient service capable of delivering safe blood and quickly locating matching organs/stem cells. This review article is intended as an accessible guide for physicians who care for transfusion-dependent patients. In particular, it serves to introduce the new molecular screening methods together with the biology of these systems, which underlies the tests. PMID:29899883

Methods for detection of haemophilia carriers: a Memorandum*

PubMed Central

1977-01-01

This Memorandum discusses the problems and techniques involved in the detection of carriers of haemophilia A (blood coagulation factor VIII deficiency) and haemophilia B (factor IX deficiency), particularly with a view to its application to genetic counselling. Apart from the personal suffering caused by haemophilia, the proper treatment of haemophiliacs places a great strain on the blood transfusion services, and it is therefore important that potential carriers should have precise information about the consequences of their having children. The Memorandum classifies the types of carrier and describes the laboratory methods used for the assessment of coagulant activity and antigen concentration in blood. Particular emphasis is laid on the establishment of international, national, and laboratory (working) standards for factors VIII and IX and their calibration in international units (IU). This is followed by a detailed account of the statistical analysis of pedigree and laboratory data, which leads to an assessment of the likelihood that a particular person will transmit the haemophilia gene to her children. Finally, the problems and responsibilities involved in genetic counselling are considered. PMID:304395

General practitioner attitudes to direct-to-consumer genetic testing in New Zealand.

PubMed

Ram, Sanyogita; Russell, Bruce; Gubb, Mary; Taylor, Rebekah; Butler, Cassandra; Khan, Imran; Shelling, Andrew

2012-10-26

The aim of the study was to explore the attitudes of general practitioners (GPs) towards direct to consumer (DTC) genetic testing and elicit their perceptions of the risks and benefits associated with DTC genetic testing. A postal questionnaire was mailed to a national random sample of 300 registered GPs from a list provided by the New Zealand Medical Council. Non-responders were followed up with an abridged survey questionnaire. Responses were received from 38% of the GPs contacted. This consisted of 113 responses from the full questionnaire. The proportion of respondents who had heard about DTC genetic testing was 47.8%. Respondents considered convenience to be the greatest benefit for the individual requesting DTC genetic testing. Misunderstanding of results and inadequate provision of information were perceived to be the greatest risks associated. Lack of knowledge, experience and time were all considered barriers to GPs providing genetic counselling, and a genetic specialist was highlighted as the most appropriate to provide this. Respondents thought advertising of DTC genetic testing should be regulated in a similar manner to DTC advertising of prescription medicines. Clinical validity of tests and counselling were thought to be the most important aspects to be regulated. As public access to DTC genetic testing increases, the role of GPs knowledge and training to reflect this growth will become increasingly more important. The 'Patient-Doctor-Counsellor Model of Delivery of Genetic Services' may be more appropriate for the provision of this service than the current model of direct access by patients. The involvement of health professionals in the DTC genetic testing process will aid patients in making informed health decisions, and ensure increased benefit from recent advances in genetic information.

Outcomes of a randomised controlled trial of a complex genetic counselling intervention to improve family communication.

PubMed

Hodgson, Jan; Metcalfe, Sylvia; Gaff, Clara; Donath, Susan; Delatycki, Martin B; Winship, Ingrid; Skene, Loane; Aitken, MaryAnne; Halliday, Jane

2016-03-01

When an inherited genetic condition is diagnosed in an individual it has implications for other family members. Privacy legislation and ethical considerations can restrict health professionals from communicating directly with other family members, and so it is frequently the responsibility of the first person in a family to receive the diagnosis (the proband) to share this news. Communication of genetic information is challenging and many at-risk family members remain unaware of important information that may be relevant to their or their children's health. We conducted a randomised controlled trial in six public hospitals to assess whether a specifically designed telephone counselling intervention improved family communication about a new genetic diagnosis. Ninety-five probands/parents of probands were recruited from genetics clinics and randomised to the intervention or control group. The primary outcome measure was the difference between the proportion of at-risk relatives who contacted genetics services for information and/or genetic testing. Audit of the family genetic file after 18 months revealed that 25.6% of intervention group relatives compared with 20.9% of control group relatives made contact with genetic services (adjusted odds ratio (OR) 1.30, 95% confidence interval 0.70-2.42, P=0.40). Although no major difference was detected overall between the intervention and control groups, there was more contact in the intervention group where the genetic condition conferred a high risk to offspring (adjusted OR 24.0, 95% confidence interval 3.4-168.5, P=0.001). The increasing sophistication and scope of genetic testing makes it imperative for health professionals to consider additional ways of supporting families in communicating genetic information.

78 FR 25941 - Stine Seed Farm, Inc.; Extension of a Determination of Nonregulated Status of Corn Genetically...

Federal Register 2010, 2011, 2012, 2013, 2014

2013-05-03

... Engineered for Herbicide Resistance AGENCY: Animal and Plant Health Inspection Service, USDA. ACTION: Notice... maize line HCEM485, which has been genetically engineered to be resistant to the herbicide glyphosate...

Public interest in predictive genetic testing, including direct-to-consumer testing, for susceptibility to major depression: preliminary findings.

PubMed

Wilde, Alex; Meiser, Bettina; Mitchell, Philip B; Schofield, Peter R

2010-01-01

The past decade has seen rapid advances in the identification of associations between candidate genes and a range of common multifactorial disorders. This paper evaluates public attitudes towards the complexity of genetic risk prediction in psychiatry involving susceptibility genes, uncertain penetrance and gene-environment interactions on which successful molecular-based mental health interventions will depend. A qualitative approach was taken to enable the exploration of the views of the public. Four structured focus groups were conducted with a total of 36 participants. The majority of participants indicated interest in having a genetic test for susceptibility to major depression, if it was available. Having a family history of mental illness was cited as a major reason. After discussion of perceived positive and negative implications of predictive genetic testing, nine of 24 participants initially interested in having such a test changed their mind. Fear of genetic discrimination and privacy issues predominantly influenced change of attitude. All participants still interested in having a predictive genetic test for risk for depression reported they would only do so through trusted medical professionals. Participants were unanimously against direct-to-consumer genetic testing marketed through the Internet, although some would consider it if there was suitable protection against discrimination. The study highlights the importance of general practitioner and public education about psychiatric genetics, and the availability of appropriate treatment and support services prior to implementation of future predictive genetic testing services.

Family history in primary care: understanding GPs' resistance to clinical genetics--qualitative study.

PubMed

Mathers, Jonathan; Greenfield, Sheila; Metcalfe, Alison; Cole, Trevor; Flanagan, Sarah; Wilson, Sue

2010-05-01

National and local evaluations of clinical genetics service pilots have experienced difficulty in engaging with GPs. To understand GPs' reluctance to engage with clinical genetics service developments, via an examination of the role of family history in general practice. Qualitative study using semi-structured one-to-one interviews. The West Midlands, UK. Interviews with 21 GPs working in 15 practices, based on a stratified random sample from the Midlands Research Practices Consortium database. Thematic analysis proceeded alongside data generation. Framework grids were constructed for comparative analytical questioning. Interpretation was framed by two explanatory models: a knowledge deficit model, and practice and professional identity model. There is a clear distinction between the routine use and function of family history in GPs' clinical decision making, and contrasting conceptualisations of genetics and 'genetic conditions'. Although genetics is clearly a part of current GP practice, with acknowledgement of genetic components to multifactorial disease, this is distinguished from 'genetic conditions' which are seen as rare, complex single-gene disorders. Importantly, family history takes its place within a broader notion of the 'family doctor' that interviewees identified as a key aspect of their role. In contrast, clinical genetics was not identified as a core component of generalist practice. The likely effectiveness of educational policy interventions aimed at GPs that focus solely on knowledge deficit models, is questionable. There is a need to acknowledge how appropriate practice is constructed by GPs, within the context of accepted generalist roles and related identities.

Genetic correlations between body condition scores and fertility in dairy cattle using bivariate random regression models.

PubMed

De Haas, Y; Janss, L L G; Kadarmideen, H N

2007-10-01

Genetic correlations between body condition score (BCS) and fertility traits in dairy cattle were estimated using bivariate random regression models. BCS was recorded by the Swiss Holstein Association on 22,075 lactating heifers (primiparous cows) from 856 sires. Fertility data during first lactation were extracted for 40,736 cows. The fertility traits were days to first service (DFS), days between first and last insemination (DFLI), calving interval (CI), number of services per conception (NSPC) and conception rate to first insemination (CRFI). A bivariate model was used to estimate genetic correlations between BCS as a longitudinal trait by random regression components, and daughter's fertility at the sire level as a single lactation measurement. Heritability of BCS was 0.17, and heritabilities for fertility traits were low (0.01-0.08). Genetic correlations between BCS and fertility over the lactation varied from: -0.45 to -0.14 for DFS; -0.75 to 0.03 for DFLI; from -0.59 to -0.02 for CI; from -0.47 to 0.33 for NSPC and from 0.08 to 0.82 for CRFI. These results show (genetic) interactions between fat reserves and reproduction along the lactation trajectory of modern dairy cows, which can be useful in genetic selection as well as in management. Maximum genetic gain in fertility from indirect selection on BCS should be based on measurements taken in mid lactation when the genetic variance for BCS is largest, and the genetic correlations between BCS and fertility is strongest.

Biotech Information-Sharing Memorandum of Understanding

EPA Pesticide Factsheets

EPA, FDA, and the U.S. Department of Agriculture's Animal and Plant Health Inspection Service/Biotechnology Regulatory Services share the regulatory oversight over genetically engineered plants and the foods derived from such plants.

Barriers and Motivators for Referral of Patients with Suspected Lynch Syndrome to Cancer Genetic Services: A Qualitative Study

PubMed Central

Tan, Yen Y.; Fitzgerald, Lisa J.

2014-01-01

This article explores the views of general practitioners and specialists on their referral of patients with suspected Lynch syndrome to cancer genetic services. Using a purposive maximum variation sampling strategy, we conducted semi-structured interviews face-to-face with 28 general practitioners and specialists in public or private hospitals and specialist clinics between March and August 2011. General practitioners and specialists were recruited in a major metropolitan area in Australia. Interview transcripts were reviewed by two independent researchers, and thematic analysis was performed using NVivo10 software. The main barriers and motivators identified were: (1) clinician-related (e.g., familiarity with Lynch syndrome and family history knowledge); (2) patient-related (e.g., patients’ interests and personal experience with cancer); and (3) organizational-related (e.g., access to services, guidelines and referral pathway). Referral of patients with suspected Lynch syndrome to cancer genetic services is motivated and hindered by a range of individual, interpersonal and organizational factors. In order to improve the care and quality of life of patients and family with suspected Lynch syndrome, further research is needed to develop supportive tools for clinicians. PMID:25562140

Grid Based Technologies for in silico Screening and Drug Design.

PubMed

Potemkin, Vladimir; Grishina, Maria

2018-03-08

Various techniques for rational drug design are presented in the paper. The methods are based on a substitution of antipharmacophore atoms of the molecules of training dataset by new atoms and/or group of atoms increasing the atomic bioactivity increments obtained at a SAR study. Furthermore, a design methodology based on the genetic algorithm DesPot for discrete optimization and generation of new drug candidate structures is described. Additionally, wide spectra of SAR approaches (3D/4D QSAR interior and exterior-based methods - BiS, CiS, ConGO, CoMIn, high-quality docking method - ReDock) using MERA force field and/or AlteQ quantum chemical method for correct prognosis of bioactivity and bioactive probability is described. The design methods are implemented now at www.chemosophia.com web-site for online computational services. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

Effectiveness of oncogenetics training on general practitioners' consultation skills: a randomized controlled trial

PubMed Central

Houwink, Elisa J.F.; Muijtjens, Arno M.M.; van Teeffelen, Sarah R.; Henneman, Lidewij; Rethans, Jan Joost; van der Jagt, Liesbeth E.J.; van Luijk, Scheltus J.; Dinant, Geert Jan; van der Vleuten, Cees; Cornel, Martina C.

2014-01-01

Purpose: General practitioners are increasingly called upon to deliver genetic services and could play a key role in translating potentially life-saving advancements in oncogenetic technologies to patient care. If general practitioners are to make an effective contribution in this area, their genetics competencies need to be upgraded. The aim of this study was to investigate whether oncogenetics training for general practitioners improves their genetic consultation skills. Methods: In this pragmatic, blinded, randomized controlled trial, the intervention consisted of a 4-h training (December 2011 and April 2012), covering oncogenetic consultation skills (family history, familial risk assessment, and efficient referral), attitude (medical ethical issues), and clinical knowledge required in primary-care consultations. Outcomes were measured using observation checklists by unannounced standardized patients and self-reported questionnaires. Results: Of 88 randomized general practitioners who initially agreed to participate, 56 completed all measurements. Key consultation skills significantly and substantially improved; regression coefficients after intervention were equivalent to 0.34 and 0.28 at 3-month follow-up, indicating a moderate effect size. Satisfaction and perceived applicability of newly learned skills were highly scored. Conclusion: The general practitioner–specific training proved to be a feasible, satisfactory, and clinically applicable method to improve oncogenetics consultation skills and could be used as an educational framework to inform future training activities with the ultimate aim of improving medical care. PMID:23722870

Identification of the optic nerve head with genetic algorithms.

PubMed

Carmona, Enrique J; Rincón, Mariano; García-Feijoó, Julián; Martínez-de-la-Casa, José M

2008-07-01

This work proposes creating an automatic system to locate and segment the optic nerve head (ONH) in eye fundus photographic images using genetic algorithms. Domain knowledge is used to create a set of heuristics that guide the various steps involved in the process. Initially, using an eye fundus colour image as input, a set of hypothesis points was obtained that exhibited geometric properties and intensity levels similar to the ONH contour pixels. Next, a genetic algorithm was used to find an ellipse containing the maximum number of hypothesis points in an offset of its perimeter, considering some constraints. The ellipse thus obtained is the approximation to the ONH. The segmentation method is tested in a sample of 110 eye fundus images, belonging to 55 patients with glaucoma (23.1%) and eye hypertension (76.9%) and random selected from an eye fundus image base belonging to the Ophthalmology Service at Miguel Servet Hospital, Saragossa (Spain). The results obtained are competitive with those in the literature. The method's generalization capability is reinforced when it is applied to a different image base from the one used in our study and a discrepancy curve is obtained very similar to the one obtained in our image base. In addition, the robustness of the method proposed can be seen in the high percentage of images obtained with a discrepancy delta<5 (96% and 99% in our and a different image base, respectively). The results also confirm the hypothesis that the ONH contour can be properly approached with a non-deformable ellipse. Another important aspect of the method is that it directly provides the parameters characterising the shape of the papilla: lengths of its major and minor axes, its centre of location and its orientation with regard to the horizontal position.

Ensuring the genetic diversity of potatoes

USDA-ARS?s Scientific Manuscript database

Opportunities for advances in the potato crop through genetics are great, since potato has many needs for improvement, and many related species with the traits required are available. Genebanks provide a centralized and specialized resource for providing the services of acquisition, classification, ...

The evolution of personalized cancer genetic counseling in the era of personalized medicine.

PubMed

Vig, Hetal S; Wang, Catharine

2012-09-01

Practice changes in cancer genetic counseling have occurred to meet the demand for cancer genetic services. As cancer genetics continues to impact not only prevention strategies but also treatment decisions, current cancer genetic counseling models will need to be tailored to accommodate emerging clinical indications. These clinical indications include: surgical prophylactic bilateral mastectomy candidates, PARP-inhibitor candidates, patients with abnormal tumor screening results for Lynch syndrome, and post-test counseling patients (after genetic testing is ordered by another healthcare provider). A more personalized, multidisciplinary approach to selecting the best framework, for a given clinical indication, may become increasingly necessary in this era of personalized medicine.

77 FR 17052 - Environmental Protection Agency, Department of Health and Human Services and Department of...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-03-23

..., Department of Health and Human Services and Department of Agriculture; Memorandum of Understanding Regarding..., Department of Health and Human Services and the Department of Agriculture regarding genetically engineered....S. Department of Agriculture (USDA). The Memorandum of Understanding (MOU) will support and...

78 FR 23770 - Establishment of the Discretionary Advisory Committee on Heritable Disorders in Newborns and...

Federal Register 2010, 2011, 2012, 2013, 2014

2013-04-22

... child screening, counseling and health care services for newborns and children having, or at risk for... heritable disorders who have worked and published material in the area of public health and genetic... DEPARTMENT OF HEALTH AND HUMAN SERVICES Health Resources and Services Administration Establishment...

Environmental risk assessment for plant pests: a procedure to evaluate their impacts on ecosystem services.

PubMed

Gilioli, G; Schrader, G; Baker, R H A; Ceglarska, E; Kertész, V K; Lövei, G; Navajas, M; Rossi, V; Tramontini, S; van Lenteren, J C

2014-01-15

The current methods to assess the environmental impacts of plant pests differ in their approaches and there is a lack of the standardized procedures necessary to provide accurate and consistent results, demonstrating the complexity of developing a commonly accepted scheme for this purpose. By including both the structural and functional components of the environment threatened by invasive alien species (IAS), in particular plant pests, we propose an environmental risk assessment scheme that addresses this complexity. Structural components are investigated by evaluating the impacts of the plant pest on genetic, species and landscape diversity. Functional components are evaluated by estimating how plant pests modify ecosystem services in order to determine the extent to which an IAS changes the functional traits that influence ecosystem services. A scenario study at a defined spatial and temporal resolution is then used to explore how an IAS, as an exogenous driving force, may trigger modifications in the target environment. The method presented here provides a standardized approach to generate comparable and reproducible results for environmental risk assessment as a component of Pest Risk Analysis. The method enables the assessment of overall environmental risk which integrates the impacts on different components of the environment and their probabilities of occurrence. The application of the proposed scheme is illustrated by evaluating the environmental impacts of the invasive citrus long-horn beetle, Anoplophora chinensis. © 2013.

Genetic relationships between body condition score and reproduction traits in Canadian Holstein and Ayrshire first-parity cows.

PubMed

Bastin, C; Loker, S; Gengler, N; Sewalem, A; Miglior, F

2010-05-01

The objective of this study was to investigate the genetic relationship between body condition score (BCS) and reproduction traits for first-parity Canadian Ayrshire and Holstein cows. Body condition scores were collected by field staff several times over the lactation in herds from Québec, and reproduction records (including both fertility and calving traits) were extracted from the official database used for the Canadian genetic evaluation of those herds. For each breed, six 2-trait animal models were run; they included random regressions that allowed the estimation of genetic correlations between BCS over the lactation and reproduction traits that are measured as a single lactation record. Analyses were undertaken on data from 108 Ayrshire herds and 342 Holstein herds. Average daily heritabilities of BCS were close to 0.13 for both breeds; these relatively low estimates might be explained by the high variability among herds and BCS evaluators. Genetic correlations between BCS and interval fertility traits (days from calving to first service, days from first service to conception, and days open) were negative and ranged between -0.77 and -0.58 for Ayrshire and between -0.31 and -0.03 for Holstein. Genetic correlations between BCS and 56-d nonreturn rate at first insemination were positive and moderate. The trends of these genetic correlations over the lactation suggest that a genetically low BCS in early lactation would increase the number of days that the primiparous cow was not pregnant and would decrease the chances of the primiparous cow to conceive at first service. Genetic correlations between BCS and calving traits were generally the strongest at calving and decreased with increasing days in milk. The correlation between BCS at calving and maternal calving ease was 0.21 for Holstein and 0.31 for Ayrshire and emphasized the relationship between fat cows around calving and dystocia. Genetic correlations between calving traits and BCS during the subsequent lactation were moderate and favorable, indicating that primiparous cows with a genetically high BCS over the lactation would have a greater chance of producing a calf that survived (maternal calf survival) and would transmit the genes that allowed the calf to be born more easily (maternal calving ease) and to survive (direct calving ease). Copyright 2010 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

Ethical dimensions of genetics in pediatric neurology: a look into the future.

PubMed

Avard, Denise M; Knoppers, Bartha M

2002-03-01

Health care providers and families with children who participate in genetic research or who need specialized genetic services, including genetic testing, will encounter not only medical but difficult social, ethical, and legal questions surrounding pediatric genetic neurology. Children are often at the center of much of the genetic revolution and their unique needs raise special concerns about the risks and benefits associated with genetic research, particularly the issues of consent, the use of genetic databases, and gene therapy. Moreover, genetic research and testing raise important psychosocial risks. In this article we discuss some of the benefits and consequences of genetic technologies for children in relation to national and international guidelines. In particular, physicians, policy-makers, and families should be knowledgeable about the guidelines and have a good understanding of the psychosocial and ethical issues associated with genetics in pediatric neurology.

Assessing genetic diversity of wild Southeastern American Vaccinium species using microsatellite markers

USDA-ARS?s Scientific Manuscript database

The United States Department of Agriculture (USDA)-Agricultural Research Service (ARS), National Clonal Germplasm Repository (NCGR) in Corvallis, Oregon, preserves genetic resources of fruit crops. This genebank contains more than 1700 Vaccinium accessions from 33 countries. Wild species representat...

Determination of Slope Safety Factor with Analytical Solution and Searching Critical Slip Surface with Genetic-Traversal Random Method

PubMed Central

2014-01-01

In the current practice, to determine the safety factor of a slope with two-dimensional circular potential failure surface, one of the searching methods for the critical slip surface is Genetic Algorithm (GA), while the method to calculate the slope safety factor is Fellenius' slices method. However GA needs to be validated with more numeric tests, while Fellenius' slices method is just an approximate method like finite element method. This paper proposed a new method to determine the minimum slope safety factor which is the determination of slope safety factor with analytical solution and searching critical slip surface with Genetic-Traversal Random Method. The analytical solution is more accurate than Fellenius' slices method. The Genetic-Traversal Random Method uses random pick to utilize mutation. A computer automatic search program is developed for the Genetic-Traversal Random Method. After comparison with other methods like slope/w software, results indicate that the Genetic-Traversal Random Search Method can give very low safety factor which is about half of the other methods. However the obtained minimum safety factor with Genetic-Traversal Random Search Method is very close to the lower bound solutions of slope safety factor given by the Ansys software. PMID:24782679

Pancreatic cancer cell lines as patient-derived avatars: genetic characterisation and functional utility.

PubMed

Knudsen, Erik S; Balaji, Uthra; Mannakee, Brian; Vail, Paris; Eslinger, Cody; Moxom, Christopher; Mansour, John; Witkiewicz, Agnieszka K

2018-03-01

Pancreatic ductal adenocarcinoma (PDAC) is a therapy recalcitrant disease with the worst survival rate of common solid tumours. Preclinical models that accurately reflect the genetic and biological diversity of PDAC will be important for delineating features of tumour biology and therapeutic vulnerabilities. 27 primary PDAC tumours were employed for genetic analysis and development of tumour models. Tumour tissue was used for derivation of xenografts and cell lines. Exome sequencing was performed on the originating tumour and developed models. RNA sequencing, histological and functional analyses were employed to determine the relationship of the patient-derived models to clinical presentation of PDAC. The cohort employed captured the genetic diversity of PDAC. From most cases, both cell lines and xenograft models were developed. Exome sequencing confirmed preservation of the primary tumour mutations in developed cell lines, which remained stable with extended passaging. The level of genetic conservation in the cell lines was comparable to that observed with patient-derived xenograft (PDX) models. Unlike historically established PDAC cancer cell lines, patient-derived models recapitulated the histological architecture of the primary tumour and exhibited metastatic spread similar to that observed clinically. Detailed genetic analyses of tumours and derived models revealed features of ex vivo evolution and the clonal architecture of PDAC. Functional analysis was used to elucidate therapeutic vulnerabilities of relevance to treatment of PDAC. These data illustrate that with the appropriate methods it is possible to develop cell lines that maintain genetic features of PDAC. Such models serve as important substrates for analysing the significance of genetic variants and create a unique biorepository of annotated cell lines and xenografts that were established simultaneously from same primary tumour. These models can be used to infer genetic and empirically determined therapeutic sensitivities that would be germane to the patient. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Knowledge of genetic testing for hereditary kidney cancer in Canada is lacking: The results of the Canadian national hereditary kidney cancer needs assessment survey

PubMed Central

Violette, Philippe D.; Kamel-Reid, Suzanne; Graham, Gail E.; Reaume, M. Neil; Jewett, Michael A.; Care, Melanie; Basiuk, Joan; Pautler, Stephen E.

2014-01-01

Introducton: Treatment of hereditary renal cell carcinoma (HRCC) requires a multidisciplinary approach that may involve medical oncologists, geneticists, genetic counsellors, and urologists. The objective of our survey was to obtain current and representative information about the use and perceived importance of genetic testing for HRCC in Canada. Methods: A self-administered web-based survey was provided to Canadian medical oncologists, geneticists, genetic counsellors, and urologists in collaboration with their respective associations. The survey was created through an iterative process in consultation with the Kidney Cancer Research Network of Canada and contained both quantitative and qualitative components. The survey was designed to be exploratory and results were compared across regions. Results: The overall response was low (6.6%). Of the respondents, 42%, 33%, 19%, 5% were genetic counsellors, urologists, medical oncologists and medical geneticists, respectively. Of the respondents, 62.7% described their practice as academic, and 37.3% described it as non-academic. Non-academic respondents tended to refer for genetic counselling less frequently than academic (48.6% vs. 67.2%). Most respondents believed that genetic testing for HRCC was available (82.8%), although 47.7% did not know which tests were available. This observation was consistent across provinces. Testing for Von Hippel-Lindau syndrome was given the highest priority among respondents. Limited provider knowledge, clinical guidelines, institutional funding, access, and poor coordination between disciplines were cited as barriers to testing. Interpretation: There is a need to increase provider knowledge of genetic testing for HRCC. These findings support the development of practice guidelines and national strategies to improve coordination of specialists and access to genetics services. Limitations of the present study include low survey response which did not allow for inferential analysis by geographic region or respondent specialty. PMID:25485012

MareyMap Online: A User-Friendly Web Application and Database Service for Estimating Recombination Rates Using Physical and Genetic Maps.

PubMed

Siberchicot, Aurélie; Bessy, Adrien; Guéguen, Laurent; Marais, Gabriel A B

2017-10-01

Given the importance of meiotic recombination in biology, there is a need to develop robust methods to estimate meiotic recombination rates. A popular approach, called the Marey map approach, relies on comparing genetic and physical maps of a chromosome to estimate local recombination rates. In the past, we have implemented this approach in an R package called MareyMap, which includes many functionalities useful to get reliable recombination rate estimates in a semi-automated way. MareyMap has been used repeatedly in studies looking at the effect of recombination on genome evolution. Here, we propose a simpler user-friendly web service version of MareyMap, called MareyMap Online, which allows a user to get recombination rates from her/his own data or from a publicly available database that we offer in a few clicks. When the analysis is done, the user is asked whether her/his curated data can be placed in the database and shared with other users, which we hope will make meta-analysis on recombination rates including many species easy in the future. © The Author 2017. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution.

A pilot study of spatial patterns in referrals to a multicentre cancer genetics service.

PubMed

Tempest, Vanessa; Higgs, Gary; McDonald, Kevin; Iredale, Rachel; Bater, Tony; Gray, Jonathon

2005-01-01

To analyse spatial and temporal patterns in patients referred to a cancer genetics service in order to monitor service utilization and accessibility. Postcodes of patients during a 4-year period were used to examine spatial patterns using a Geographical Information System (GIS). Referral rates were compared visually and statistically to explore yearly variation for administrative areas in Wales. There has been a four-fold increase in actual referrals to the service over the period of study. The variance between unitary authority referral rates has decreased from the inception of the service from an almost ten-fold difference between lowest and highest in year 1 to less than a three-fold difference in year 4. This study shows the potential of GIS to highlight spatial variations in referral rates across Wales. Although the disparity in referral rates has decreased, trends in referral rates are not consistent. Ongoing research will examine those referral and referrer characteristics affecting uptake. Copyright 2005 S. Karger AG, Basel.

Impact of subsidies on cancer genetic testing uptake in Singapore.

PubMed

Li, Shao-Tzu; Yuen, Jeanette; Zhou, Ke; Binte Ishak, Nur Diana; Chen, Yanni; Met-Domestici, Marie; Chan, Sock Hoai; Tan, Yee Pin; Allen, John Carson; Lim, Soon Thye; Soo, Khee Chee; Ngeow, Joanne

2017-04-01

Previous reports cite high costs of clinical cancer genetic testing as main barriers to patient's willingness to test. We report findings of a pilot study that evaluates how different subsidy schemes impact genetic testing uptake and total cost of cancer management. We included all patients who attended the Cancer Genetics Service at the National Cancer Centre Singapore (January 2014-May 2016). Two subsidy schemes, the blanket scheme (100% subsidy to all eligible patients), and the varied scheme (patients received 50%-100% subsidy dependent on financial status) were compared. We estimated total spending on cancer management from government's perspective using a decision model. 445 patients were included. Contrasting against the blanket scheme, the varied scheme observed a higher attendance of patients (34 vs 8 patients per month), of which a higher proportion underwent genetic testing (5% vs 38%), while lowering subsidy spending per person (S$1098 vs S$1161). The varied scheme may potentially save cost by reducing unnecessary cancer surveillance when first-degree relatives uptake rate is above 36%. Provision of subsidy leads to a considerable increase in genetic testing uptake rate. From the government's perspective, subsidising genetic testing may potentially reduce total costs on cancer management. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/.

Motherhood and Genetic Screening: A Personal Perspective

ERIC Educational Resources Information Center

Place, Fiona

2008-01-01

According to the medical profession the direction and scope of reproductive services such as IVF and pre-natal screening are based on solid evidence; the evidence indicates these are effective and safe services. Moreover, women want them. As a consequence these services are usually presented to the wider community in a positive light with images…

Inequities in genetic testing for hereditary breast cancer: implications for public health practice.

PubMed

Sayani, Ambreen

2018-05-20

The Ontario Breast Screening Program for women with a genetic predisposition to breast cancer is one of the first international models of a government-funded public health service that offers systematic genetic screening to women at a high risk of breast cancer. However, since the implementation of the program in 2011, enrolment rates have been lower than anticipated. Whilst there may be several reasons for this to happen, it does call into consideration the 'inverse equity law', whereby the more advantaged in society are the first to participate and benefit from universal health services. An outcome of this phenomenon is an increase in the health divide between those that are at a social advantage versus those that are not. Using an intersectionality lens, this paper explores the role of the social determinants of health and social identity in creating possible barriers in the access to genetic screening for hereditary breast cancer, and the implications for public health practice in recognising and ameliorating these differences.

Impact of Clinical Genetics Attendance at a Gynecologic Oncology Tumor Board on Referrals for Genetic Counseling and BRCA Mutation Testing.

PubMed

Cohen, Paul A; Nichols, Cassandra B; Schofield, Lyn; Van Der Werf, Steven; Pachter, Nicholas

2016-06-01

The objectives of this work were to determine the proportion of eligible patients with ovarian cancer discussed at a gynecologic oncology tumor board who were referred for counseling and BRCA mutation testing; to compare referral rates before genetics attendance at the tumor board to referral rates after genetics attendance; and to ascertain the proportions of women with germline BRCA mutations. Eligible cases were identified from the minutes of the weekly Western Australian gynecologic oncology tumor board from July 1, 2013 to June 30, 2015.Patients with ovarian cancer who met eligibility criteria for genetics referral were identified and checked against the records of the genetic services database to ascertain whether a referral was received. Outcomes including attendance for counseling and results of mutation testing were analyzed. Two hundred sixty-one patients were eligible for referral during the 24-month study period. One hundred six patients (40.6%) were referred for counseling and germline mutation testing. Of the eligible patients, 26.7% were referred in the 12 months before genetics attendance at the tumor board compared to 51.7% of the eligible patients in the 12 months after genetics attendance (P ≤ 0.0001). Ninety-seven patients were offered BRCA mutation testing, and 73 underwent testing with 65 results reported to date. Twenty-two patients (33.8 %) tested positive for a germline BRCA mutation. Patients with ovarian cancer had a high rate of BRCA mutations. Attendance of a genetics service at a tumor board was associated with an improved rate of referral of patients for genetic counseling and BRCA mutation testing.

Markovian queue optimisation analysis with an unreliable server subject to working breakdowns and impatient customers

NASA Astrophysics Data System (ADS)

Liou, Cheng-Dar

2015-09-01

This study investigates an infinite capacity Markovian queue with a single unreliable service station, in which the customers may balk (do not enter) and renege (leave the queue after entering). The unreliable service station can be working breakdowns even if no customers are in the system. The matrix-analytic method is used to compute the steady-state probabilities for the number of customers, rate matrix and stability condition in the system. The single-objective model for cost and bi-objective model for cost and expected waiting time are derived in the system to fit in with practical applications. The particle swarm optimisation algorithm is implemented to find the optimal combinations of parameters in the pursuit of minimum cost. Two different approaches are used to identify the Pareto optimal set and compared: the epsilon-constraint method and non-dominate sorting genetic algorithm. Compared results allow using the traditional optimisation approach epsilon-constraint method, which is computationally faster and permits a direct sensitivity analysis of the solution under constraint or parameter perturbation. The Pareto front and non-dominated solutions set are obtained and illustrated. The decision makers can use these to improve their decision-making quality.

LEO cooperative multi-spacecraft refueling mission optimization considering J2 perturbation and target's surplus propellant constraint

NASA Astrophysics Data System (ADS)

Zhao, Zhao; Zhang, Jin; Li, Hai-yang; Zhou, Jian-yong

2017-01-01

The optimization of an LEO cooperative multi-spacecraft refueling mission considering the J2 perturbation and target's surplus propellant constraint is studied in the paper. First, a mission scenario is introduced. One service spacecraft and several target spacecraft run on an LEO near-circular orbit, the service spacecraft rendezvouses with some service positions one by one, and target spacecraft transfer to corresponding service positions respectively. Each target spacecraft returns to its original position after obtaining required propellant and the service spacecraft returns to its original position after refueling all target spacecraft. Next, an optimization model of this mission is built. The service sequence, orbital transfer time, and service position are used as deign variables, whereas the propellant cost is used as the design objective. The J2 perturbation, time constraint and the target spacecraft's surplus propellant capability constraint are taken into account. Then, a hybrid two-level optimization approach is presented to solve the formulated mixed integer nonlinear programming (MINLP) problem. A hybrid-encoding genetic algorithm is adopted to seek the near optimal solution in the up-level optimization, while a linear relative dynamic equation considering the J2 perturbation is used to obtain the impulses of orbital transfer in the low-level optimization. Finally, the effectiveness of the proposed model and method is validated by numerical examples.

Commerce and genetic diagnostics.

PubMed

Silverman, Paul H

1995-01-01

The revolution in molecular biology and molecular genetics has begun to reveal the sequence of events that links genes and disease. As a result of activities such as the Human Genome Project, a parallel revolution in technology is bringing nearer to hand the possibility of readily available genetic diagnostics. Genetic testing services have begun to move out of the academic medical centers and into the private enterprise arena. Under these circumstances it is important to understand the factors affecting the availability and application of this powerful predictive tool in a for-profit mode. How does the marketplace encourage or discourage genetic testing? Will the same market influences that generate pharmaceutical sales be operating to "sell" genetic tests?

Genetic testing for cystic fibrosis. National Institutes of Health Consensus Development Conference Statement on genetic testing for cystic fibrosis.

PubMed

1999-07-26

To provide health care providers, patients, and the general public with a responsible assessment of the optimal practices for genetic testing for cystic fibrosis (CF). A nonfederal, nonadvocate, 14-member panel representing the fields of genetics, obstetrics, internal medicine, nursing, social work, epidemiology, pediatrics, psychiatry, genetic counseling, bioethics, health economics, health services research, law, and the public. In addition, 21 experts from these same fields presented data to the panel and a conference audience of 500. The literature was searched through MEDLINE, and an extensive bibliography of references was provided to the panel and the conference audience. Experts prepared abstracts with relevant citations from the literature. Scientific evidence was given precedence over clinical anecdotal experience. The panel, answering predefined questions, developed its conclusions based on the scientific evidence presented in open forum and the scientific literature. The panel composed a draft statement that was read in its entirety and circulated to the experts and the audience for comment. Thereafter, the panel resolved conflicting recommendations and released a revised statement at the end of the conference. The panel finalized the revisions within a few weeks after the conference. Genetic testing for CF should be offered to adults with a positive family history of CF, to partners of people with CF, to couples currently planning a pregnancy, and to couples seeking prenatal care. The panel does not recommend offering CF genetic testing to the general population or newborns. The panel advocates active research to develop improved treatments for people with CF and continued investigation into the understanding of the pathophysiology of the disease. Comprehensive educational programs targeted to health care professionals and the public should be developed using input from people living with CF and their families and from people from diverse racial and ethnic groups. Additionally, genetic counseling services must be accurate and provide balanced information to afford individuals the opportunity to make autonomous decisions. Every attempt should be made to protect individual rights, genetic and medical privacy rights, and to prevent discrimination and stigmatization. It is essential that the offering of CF carrier testing be phased in over a period to ensure that adequate education and appropriate genetic testing and counseling services are available to all persons being tested.

Socioscientific Argumentation of Pre-Service Teachers about Genetically Modified Organisms

NASA Astrophysics Data System (ADS)

Herawati, D.; Ardianto, D.

2017-09-01

This study aims to investigate socioscientific argumentation of pre-service teachers of science and non-science major regarding Genetically Modified Organisms (GMOs) issue. We used descriptive study and involved second-year pre-service teachers from two major, 28 pre-service science teachers (PSTs) and 28 pre-service non-science teachers (PNSTs) as participants. Paper and pencil test was administered in order to obtain the data of PSTs’ and PNSTs’ argument about GMOs. All of the data were analyzed by descriptive analysis. We applied Toulmin Argumentation Pattern (TAP) as a basic framework to identify the argumentation component. The result showed that both PSTs and PNSTs were able to propose an argument with a claim, data, and/or warrant.. Most of their argument contain data which provided in the text, without any further reasoning or relevant scientific knowledge. So, the coherency between argumentation component in both PSTs and PNSTs was limited. However, PSTs are more able to propose coherent arguments than PNSTs. These findings indicated that educational background and learning experiences may influence to pre-service teacher argumentation in the context of GMOs. Beside that, teaching and learning process which focused on the socioscientific issues is necessary to develop pre-service teachers’ argumentation

[Book review] Fish Gene Pools: preservation of genetic resources in relation to wild fish stocks, edited by N. Ryman

USGS Publications Warehouse

Simon, R.C.

1984-01-01

Review of: Fish Gene Pools: Preservation of Genetic Resources in Relation to Wild Fish Stocks. Edited by N. Ryman. The Editorial Service/FRN, Box 6710, S-11385, Stockholm, Sweden. 1981. 111 pages. $16.00 (paper).

75 FR 8031 - Submission for OMB Review; Comment Request

Federal Register 2010, 2011, 2012, 2013, 2014

2010-02-23

... all sectors are kept informed concerning any potential risks posed through the use of genetic... information unless it displays a currently valid OMB control number. Animal Plant and Health Inspection Service Title: 7 CFR 340; Introduction of Organisms and Products Altered or Produced Through Genetic...

Genetic tests obtainable through pharmacies: the good, the bad, and the ugly.

PubMed

Patrinos, George P; Baker, Darrol J; Al-Mulla, Fahd; Vasiliou, Vasilis; Cooper, David N

2013-07-08

Genomic medicine seeks to exploit an individual's genomic information in the context of guiding the clinical decision-making process. In the post-genomic era, a range of novel molecular genetic testing methodologies have emerged, allowing the genetic testing industry to grow at a very rapid pace. As a consequence, a considerable number of different private diagnostic testing laboratories now provide a wide variety of genetic testing services, often employing a direct-to-consumer (DTC) business model to identify mutations underlying (or associated with) common Mendelian disorders, to individualize drug response, to attempt to determine an individual's risk of a multitude of complex (multifactorial) diseases, or even to determine a person's identity. Recently, we have noted a novel trend in the provision of private molecular genetic testing services, namely saliva and buccal swab collection kits (for deoxyribonucleic acid (DNA) isolation) being offered for sale over the counter by pharmacies. This situation is somewhat different from the standard DTC genetic testing model, since pharmacists are healthcare professionals who are supposedly qualified to give appropriate advice to their clients. There are, however, a number of issues to be addressed in relation to the marketing of DNA collection kits for genetic testing through pharmacies, namely a requirement for regulatory clearance, the comparative lack of appropriate genetics education of the healthcare professionals involved, and most importantly, the lack of awareness on the part of both the patients and the general public with respect to the potential benefits or otherwise of the various types of genetic test offered, which may result in confusion as to which test could be beneficial in their own particular case. We believe that some form of genetic counseling should ideally be integrated into, and made inseparable from, the genetic testing process, while pharmacists should be obliged to receive some basic training about the genetic tests that they offer for sale.

Genetic testing for paediatric neurological disorders.

PubMed

Valente, Enza Maria; Ferraris, Alessandro; Dallapiccola, Bruno

2008-12-01

Paediatric neurological disorders encompass a large group of clinically heterogeneous diseases, of which some are known to have a genetic cause. Over the past few years, advances in nosological classifications and in strategies for molecular testing have substantially improved the diagnosis, genetic counselling, and clinical management of many patients, and have facilitated the possibility of prenatal diagnoses for future pregnancies. However, the increasing availability of genetic tests for paediatric neurological disorders is raising important questions with regard to the appropriateness, choice of protocols, interpretation of results, and ethical and social concerns of these services. In this Review, we discuss these topics and how these concerns affect genetic counselling.

A Distributed Parallel Genetic Algorithm of Placement Strategy for Virtual Machines Deployment on Cloud Platform

PubMed Central

Dong, Yu-Shuang; Xu, Gao-Chao; Fu, Xiao-Dong

2014-01-01

The cloud platform provides various services to users. More and more cloud centers provide infrastructure as the main way of operating. To improve the utilization rate of the cloud center and to decrease the operating cost, the cloud center provides services according to requirements of users by sharding the resources with virtualization. Considering both QoS for users and cost saving for cloud computing providers, we try to maximize performance and minimize energy cost as well. In this paper, we propose a distributed parallel genetic algorithm (DPGA) of placement strategy for virtual machines deployment on cloud platform. It executes the genetic algorithm parallelly and distributedly on several selected physical hosts in the first stage. Then it continues to execute the genetic algorithm of the second stage with solutions obtained from the first stage as the initial population. The solution calculated by the genetic algorithm of the second stage is the optimal one of the proposed approach. The experimental results show that the proposed placement strategy of VM deployment can ensure QoS for users and it is more effective and more energy efficient than other placement strategies on the cloud platform. PMID:25097872

A distributed parallel genetic algorithm of placement strategy for virtual machines deployment on cloud platform.

PubMed

Dong, Yu-Shuang; Xu, Gao-Chao; Fu, Xiao-Dong

2014-01-01

The cloud platform provides various services to users. More and more cloud centers provide infrastructure as the main way of operating. To improve the utilization rate of the cloud center and to decrease the operating cost, the cloud center provides services according to requirements of users by sharding the resources with virtualization. Considering both QoS for users and cost saving for cloud computing providers, we try to maximize performance and minimize energy cost as well. In this paper, we propose a distributed parallel genetic algorithm (DPGA) of placement strategy for virtual machines deployment on cloud platform. It executes the genetic algorithm parallelly and distributedly on several selected physical hosts in the first stage. Then it continues to execute the genetic algorithm of the second stage with solutions obtained from the first stage as the initial population. The solution calculated by the genetic algorithm of the second stage is the optimal one of the proposed approach. The experimental results show that the proposed placement strategy of VM deployment can ensure QoS for users and it is more effective and more energy efficient than other placement strategies on the cloud platform.

ETHNOS: A versatile electronic tool for the development and curation of national genetic databases

PubMed Central

2010-01-01

National and ethnic mutation databases (NEMDBs) are emerging online repositories, recording extensive information about the described genetic heterogeneity of an ethnic group or population. These resources facilitate the provision of genetic services and provide a comprehensive list of genomic variations among different populations. As such, they enhance awareness of the various genetic disorders. Here, we describe the features of the ETHNOS software, a simple but versatile tool based on a flat-file database that is specifically designed for the development and curation of NEMDBs. ETHNOS is a freely available software which runs more than half of the NEMDBs currently available. Given the emerging need for NEMDB in genetic testing services and the fact that ETHNOS is the only off-the-shelf software available for NEMDB development and curation, its adoption in subsequent NEMDB development would contribute towards data content uniformity, unlike the diverse contents and quality of the available gene (locus)-specific databases. Finally, we allude to the potential applications of NEMDBs, not only as worldwide central allele frequency repositories, but also, and most importantly, as data warehouses of individual-level genomic data, hence allowing for a comprehensive ethnicity-specific documentation of genomic variation. PMID:20650823

ETHNOS : A versatile electronic tool for the development and curation of national genetic databases.

PubMed

van Baal, Sjozef; Zlotogora, Joël; Lagoumintzis, George; Gkantouna, Vassiliki; Tzimas, Ioannis; Poulas, Konstantinos; Tsakalidis, Athanassios; Romeo, Giovanni; Patrinos, George P

2010-06-01

National and ethnic mutation databases (NEMDBs) are emerging online repositories, recording extensive information about the described genetic heterogeneity of an ethnic group or population. These resources facilitate the provision of genetic services and provide a comprehensive list of genomic variations among different populations. As such, they enhance awareness of the various genetic disorders. Here, we describe the features of the ETHNOS software, a simple but versatile tool based on a flat-file database that is specifically designed for the development and curation of NEMDBs. ETHNOS is a freely available software which runs more than half of the NEMDBs currently available. Given the emerging need for NEMDB in genetic testing services and the fact that ETHNOS is the only off-the-shelf software available for NEMDB development and curation, its adoption in subsequent NEMDB development would contribute towards data content uniformity, unlike the diverse contents and quality of the available gene (locus)-specific databases. Finally, we allude to the potential applications of NEMDBs, not only as worldwide central allele frequency repositories, but also, and most importantly, as data warehouses of individual-level genomic data, hence allowing for a comprehensive ethnicity-specific documentation of genomic variation.

Teachers' Conceptions About the Genetic Determinism of Human Behaviour: A Survey in 23 Countries

NASA Astrophysics Data System (ADS)

Castéra, Jérémy; Clément, Pierre

2014-02-01

This work analyses the answers to a questionnaire from 8,285 in-service and pre-service teachers from 23 countries, elaborated by the Biohead-Citizen research project, to investigate teachers' conceptions related to the genetic determinism of human behaviour. A principal components analysis is used to assess the main trends in all the interviewed teachers' conceptions. This illustrates that innatism is present in two distinct ways: in relation to individuals (e.g. genetic determinism to justify intellectual likeness between individuals such as twins) or in relation to groups of humans (e.g. genetic determinism to justify gender differences or the superiority of some human ethnic groups). A between-factor analysis discriminates between countries, showing very significant differences. There is more innatism among teachers' conceptions in African countries and Lebanon than in European countries, Brazil and Australia. Among the other controlled parameters, only two are significantly independent of the country: the level of training and the level of knowledge of biology. A co-inertia analysis shows a strong correlation between non-citizen attitudes towards and innatist conceptions of genetic determinism regarding human groups. We discuss these findings and their implications for education.

About | DOE Data Explorer

Science.gov Websites

skip to main content DDE Toggle Navigation Home About DDE FAQs DOE Data ID Service Data ID Service Data ID Service Workshops Contact Us dataexplorer Search For Terms: + Advanced Search × Advanced /Simulations Figures/Plots Genome/Genetics Data Interactive Data Map(s) Multimedia Numeric Data Specialized Mix

Impact of Appointment Waiting Time on Attendance Rates at a Clinical Cancer Genetics Service.

PubMed

Shaw, Tarryn; Metras, Julie; Ting, Zoe Ang Li; Courtney, Eliza; Li, Shao-Tzu; Ngeow, Joanne

2018-05-24

The increase in demand for clinical cancer genetics services has impacted the ability to provide services timeously. Given limited resources, this often results in extended appointment waiting times. Over the last 3 years, the Cancer Genetics Service at the National Cancer Centre Singapore has continued to experience a steady increase in demand for its service. Nevertheless, significant no-show rates have been reported. This study sought to determine whether an association exists between appointment waiting times and attendance rates. Data was gathered for all participants meeting inclusion criteria. Attendance rates and appointment waiting times were calculated. The relationship between mean waiting times for those who did and did not attend their scheduled appointments was evaluated using Welch's t test and linear regression model. The results showed a significant difference in mean appointment waiting times between patients who did and did not attend (32.66 versus 43.50 days respectively; p < 0.0001). Furthermore, patients who waited for longer than 37 days were significantly less likely to attend. No-show rates increased as the waiting time increased, at a rate of 19.60% per 20 days and 21.40% per 30 days. In conclusion, appointment waiting time is a significant predictor for patient attendance. Strategies to ensure patients receive an appointment within the necessary timeframe at the desired setting are important to ensure that individuals at increased cancer risk attend their appointments in order to manage their cancer risks effectively.

45 CFR 148.180 - Prohibition of discrimination based on genetic information.

Code of Federal Regulations, 2010 CFR

2010-10-01

... minimum amount of information necessary to make a decision regarding payment. Because the results of the... making a determination regarding the medical appropriateness of a claim if the genetic information is... information. 148.180 Section 148.180 Public Welfare DEPARTMENT OF HEALTH AND HUMAN SERVICES REQUIREMENTS...

76 FR 3908 - Disease, Disability, and Injury Prevention and Control Special Emphasis Panel (SEP): The...

Federal Register 2010, 2011, 2012, 2013, 2014

2011-01-21

... DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Disease, Disability, and Injury Prevention and Control Special Emphasis Panel (SEP): The Association of Genetic... meeting will include the initial review, discussion, and evaluation of ``The Association of Genetic...

75 FR 29969 - Environmental Impact Statement; Determination of Nonregulated Status of Sugar Beet Genetically...

Federal Register 2010, 2011, 2012, 2013, 2014

2010-05-28

... Tolerance to the Herbicide Glyphosate AGENCY: Animal and Plant Health Inspection Service, USDA. ACTION... genetically engineered for tolerance to the herbicide glyphosate. The petition stated that this article should...-tolerant sugar beet systems. What are the impacts of weeds, herbicide-tolerant weeds, weed management...

77 FR 41356 - Monsanto Co.; Availability of Petition for Determination of Nonregulated Status of Soybean...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-07-13

... Engineered for Herbicide Tolerance AGENCY: Animal and Plant Health Inspection Service, USDA. ACTION: Notice... soybean designated as MON 87708, which has been genetically engineered for tolerance to the herbicide... MON 87708, which has been genetically engineered for tolerance to the herbicide dicamba, stating that...

78 FR 51706 - Bayer CropScience LP; Determination of Nonregulated Status of Soybean Genetically Engineered for...

Federal Register 2010, 2011, 2012, 2013, 2014

2013-08-21

... Soybean Genetically Engineered for Herbicide Resistance AGENCY: Animal and Plant Health Inspection Service... for resistance to the herbicides glyphosate and isoxaflutole, is no longer considered a regulated... for resistance to the herbicides glyphosate and isoxaflutole. The petition states that this soybean is...

77 FR 41353 - GENECTIVE SA; Availability of Petition for Determination of Nonregulated Status of Maize...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-07-13

... Engineered for Herbicide Tolerance AGENCY: Animal and Plant Health Inspection Service, USDA. ACTION: Notice... VCO-[Oslash]1981-5, which has been genetically engineered for tolerance to the herbicide glyphosate...- [Oslash]1981-5, which has been genetically engineered for tolerance to the herbicide glyphosate, stating...

Information Business: Applying Infometry (Informational Geometry) in Cognitive Coordination and Genetic Programming for Electronic Information Packaging and Marketing.

ERIC Educational Resources Information Center

Tsai, Bor-sheng

1994-01-01

Describes the use of infometry, or informational geometry, to meet the challenges of information service businesses. Highlights include theoretical models for cognitive coordination and genetic programming; electronic information packaging; marketing electronic information products, including cost-benefit analyses; and recapitalization, including…

Genetic evaluation of gestation length as a trait of the service sire

USDA-ARS?s Scientific Manuscript database

Predicted transmitting abilities (PTA) for gestation length (GL) were developed for all dairy breeds and crossbreds. Initial GL edits gave 20.5 million records of 10.8 million cows and included GL after either heifer or cow inseminations. Preliminary analysis revealed a very negative genetic trend i...

Developments in Genetic Understanding: Time To Engage with the Process.

ERIC Educational Resources Information Center

Barr, Owen

2002-01-01

This editorial outlines how developments in our understanding of genetic information may raise new challenges for people with learning disabilities, their parents, and professionals working in learning disability services. It concludes by highlighting some key aspects professionals need to consider if they are to support effectively people who…

Using the GRIN-Global System to Identify Useful Plant Genetic Resources & Information

USDA-ARS?s Scientific Manuscript database

The GRIN-Global (GG) System has been developed to provide the world's crop genebanks and plant genetic resource (PGR) users with a powerful, flexible, easy-to-use PGR information management system. Developed jointly by the USDA Agricultural Research Service, Bioversity International and the Global C...

A literature review of studies using qualitative research to explore chronic neuromuscular disease.

PubMed

LaDonna, Kori A

2011-06-01

Although most neuromuscular disease research articles reflect traditional quantitative approaches, qualitative methods are becoming more prevalent in the neuromuscular literature. Arguably, qualitative research provides rich data that may be used to generate patient-centered outcome measures or influence current standards of care. The purpose of this article is to explore the qualitative literature pertaining to individuals and families living with chronic neuromuscular disease in order to suggest implications for practice. Fifty-six qualitative articles addressing seven research themes including Illness Experience; Work, Recreation, and Services; Assisted Ventilation; Caregiving; Genetics; Communication and Information Seeking; and Palliative Care were identified.

The UK Human Genome Mapping Project online computing service.

PubMed

Rysavy, F R; Bishop, M J; Gibbs, G P; Williams, G W

1992-04-01

This paper presents an overview of computing and networking facilities developed by the Medical Research Council to provide online computing support to the Human Genome Mapping Project (HGMP) in the UK. The facility is connected to a number of other computing facilities in various centres of genetics and molecular biology research excellence, either directly via high-speed links or through national and international wide-area networks. The paper describes the design and implementation of the current system, a 'client/server' network of Sun, IBM, DEC and Apple servers, gateways and workstations. A short outline of online computing services currently delivered by this system to the UK human genetics research community is also provided. More information about the services and their availability could be obtained by a direct approach to the UK HGMP-RC.

Interest in Genetic Counseling and Testing for Adolescent Nicotine Addiction Susceptibility among a Sample of Adolescent Medicine Providers Attending a Scientific Conference on Adolescent Health

PubMed Central

Tercyak, Kenneth P.; Peshkin, Beth N.; Abraham, Anisha; Wine, Lauren; Walker, Leslie R.

2007-01-01

Purpose Preventing adolescents from smoking and becoming addicted to nicotine is an important public health issue. New research on the genetics of susceptibility to nicotine addition is emerging and may someday help identify adolescents at high risk. Over time, genetic counseling and testing for nicotine addiction susceptibility may become incorporated into tobacco control practice, and providers in primary care settings are likely to be at the forefront of these services. As such, it is important to understand the attitudes and practices of adolescent medicine providers toward tobacco control and genetic testing to better anticipate their needs and interests and prepare for the future. This study describes adolescent medicine providers’ interest, and correlates of their interest, in genetic counseling and testing for nicotine addiction susceptibility among their adolescent patients--a test which is not yet clinically available. Methods Adolescent medicine providers attending a national scientific conference (N = 232) completed a survey about their patient tobacco control and other screening behaviors, perceptions of their patients’ attitudes and beliefs toward tobacco control, and their own attitudes and beliefs about smoking and genetics. Results Providers who engaged in more regular tobacco screening behaviors with their adolescent patients (Odds Ratio [OR] = 4.07, 95% Confidence Interval [CI] = 2.20, 7.751, p = .00) and those who were more optimistic that biobehavioral research would lead to significant improvements in adolescent smoking prevention and treatment (OR = 2.47, 95% CI = 1.40, 4.37, p = .00), were more interested in counseling and testing. Conclusions Someday, adolescent wellness visits may present an opportunity to offer genetic counseling and testing for nicotine addiction susceptibility. Implementation at the provider level may depend on tobacco screening behavior and research optimism. Educating providers about safe and effective adolescent tobacco control strategies incorporating genetics will be essential. PMID:17577533

Parametric and Nonparametric Statistical Methods for Genomic Selection of Traits with Additive and Epistatic Genetic Architectures

PubMed Central

Howard, Réka; Carriquiry, Alicia L.; Beavis, William D.

2014-01-01

Parametric and nonparametric methods have been developed for purposes of predicting phenotypes. These methods are based on retrospective analyses of empirical data consisting of genotypic and phenotypic scores. Recent reports have indicated that parametric methods are unable to predict phenotypes of traits with known epistatic genetic architectures. Herein, we review parametric methods including least squares regression, ridge regression, Bayesian ridge regression, least absolute shrinkage and selection operator (LASSO), Bayesian LASSO, best linear unbiased prediction (BLUP), Bayes A, Bayes B, Bayes C, and Bayes Cπ. We also review nonparametric methods including Nadaraya-Watson estimator, reproducing kernel Hilbert space, support vector machine regression, and neural networks. We assess the relative merits of these 14 methods in terms of accuracy and mean squared error (MSE) using simulated genetic architectures consisting of completely additive or two-way epistatic interactions in an F2 population derived from crosses of inbred lines. Each simulated genetic architecture explained either 30% or 70% of the phenotypic variability. The greatest impact on estimates of accuracy and MSE was due to genetic architecture. Parametric methods were unable to predict phenotypic values when the underlying genetic architecture was based entirely on epistasis. Parametric methods were slightly better than nonparametric methods for additive genetic architectures. Distinctions among parametric methods for additive genetic architectures were incremental. Heritability, i.e., proportion of phenotypic variability, had the second greatest impact on estimates of accuracy and MSE. PMID:24727289

Primary care professionals' perceptions of using a short family history questionnaire.

PubMed

Ahmed, Shenaz; Hayward, Judith; Ahmed, Mushtaq

2016-12-01

Improving access for relatives at-risk of genetic conditions by building referral systems from primary care to genetic services is well recognised. This study aimed to explore primary care professionals' (PCPs) views about using a short, seven-item family history questionnaire (S-FHQ) as an intervention for identifying at-risk relatives of patients with a genetic condition in routine primary care for referral to genetic services. This qualitative study was conducted in the UK in 2013-14. Focus groups were held with 21 PCPs. The normalisation process theory (NPT) was used during analysis as the theoretical lens for exploring potential implementation and sustainability of the intervention. In principle, participants were supportive of the S-FHQ. They initially expressed enthusiasm for the S-FHQ and identified benefits of its use. However, in discussions about its use in practice, they raised concerns about their expertise to deliver the intervention, implications for their workload, potential duplication with existing roles and services in secondary care, the ethical implications of its use in routine care and its acceptability to patients. This study shows why even a short family history questionnaire, as an intervention for identifying at-risk relatives, is unlikely to be implemented by primary care professionals. © The Author 2016. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Genetic Counseling, Professional Values, and Habitus: An Analysis of Disability Narratives in Textbooks.

PubMed

Reed, Amy R

2016-10-19

This article analyzes narrative illustrations in genetic counseling textbooks as a way of understanding professional habitus--the dispositions that motivate professional behavior. In particular, this analysis shows that there are significant differences in how the textbooks' expository and narrative portions represent Down syndrome, genetic counseling practice, and patient behaviors. While the narrative portions of the text position the genetic counseling profession as working in service to the values of genetic medicine, the expository portions represent genetic counselors as neutral parties. Ultimately, this article argues that this ambiguity is harmful to the production of a professional habitus that is consistent with espoused professional values concerning respect for persons with disabilities and the promotion of psychosocial counseling.

dbWGFP: a database and web server of human whole-genome single nucleotide variants and their functional predictions.

PubMed

Wu, Jiaxin; Wu, Mengmeng; Li, Lianshuo; Liu, Zhuo; Zeng, Wanwen; Jiang, Rui

2016-01-01

The recent advancement of the next generation sequencing technology has enabled the fast and low-cost detection of all genetic variants spreading across the entire human genome, making the application of whole-genome sequencing a tendency in the study of disease-causing genetic variants. Nevertheless, there still lacks a repository that collects predictions of functionally damaging effects of human genetic variants, though it has been well recognized that such predictions play a central role in the analysis of whole-genome sequencing data. To fill this gap, we developed a database named dbWGFP (a database and web server of human whole-genome single nucleotide variants and their functional predictions) that contains functional predictions and annotations of nearly 8.58 billion possible human whole-genome single nucleotide variants. Specifically, this database integrates 48 functional predictions calculated by 17 popular computational methods and 44 valuable annotations obtained from various data sources. Standalone software, user-friendly query services and free downloads of this database are available at http://bioinfo.au.tsinghua.edu.cn/dbwgfp. dbWGFP provides a valuable resource for the analysis of whole-genome sequencing, exome sequencing and SNP array data, thereby complementing existing data sources and computational resources in deciphering genetic bases of human inherited diseases. © The Author(s) 2016. Published by Oxford University Press.

Attitudes about regulation among direct-to-consumer genetic testing customers.

PubMed

Bollinger, Juli Murphy; Green, Robert C; Kaufman, David

2013-05-01

The first regulatory rulings by the U.S. Food and Drug Administration on direct-to-consumer (DTC) genetic testing services are expected soon. As the process of regulating these and other genetic tests moves ahead, it is important to understand the preferences of DTC genetic testing customers about the regulation of these products. An online survey of customers of three DTC genetic testing companies was conducted 2-8 months after they had received their results. Participants were asked about the importance of regulating the companies selling DTC genetic tests. Most of the 1,046 respondents responded that it would be important to have a nongovernmental (84%) or governmental agency (73%) monitor DTC companies' claims to ensure the consistency with scientific evidence. However, 66% also felt that it was important that DTC tests be available without governmental oversight. Nearly, all customers favored a policy to ensure that insurers and law enforcement officials could not access their information. Although many DTC customers want access to genetic testing services without restrictions imposed by the government regulation, most also favor an organization operating alongside DTC companies that will ensure that the claims made by the companies are consistent with sound scientific evidence. This seeming contradiction may indicate that DTC customers want to ensure that they have unfettered access to high-quality information. Additionally, policies to help ensure privacy of data would be welcomed by customers, despite relatively high confidence in the companies.

Characteristics associated with genetic counseling referral and BRCA1/2 testing among women in a large integrated health system.

PubMed

Bellcross, Cecelia A; Peipins, Lucy A; McCarty, Frances A; Rodriguez, Juan L; Hawkins, Nikki A; Hensley Alford, Sharon; Leadbetter, Steven

2015-01-01

Evidence shows underutilization of cancer genetics services. To explore the reasons behind this underutilization, this study evaluated characteristics of women who were referred for genetic counseling and/or had undergone BRCA1/2 testing. An ovarian cancer risk perception study stratified 16,720 eligible women from the Henry Ford Health System into average-, elevated-, and high-risk groups based on family history. We randomly selected 3,307 subjects and interviewed 2,524 of them (76.3% response rate). Among the average-, elevated-, and high-risk groups, 2.3, 10.1, and 20.2%, respectively, reported genetic counseling referrals, and 0.8, 3.3, and 9.5%, respectively, reported having undergone BRCA testing. Personal breast cancer history, high risk, and perceived ovarian cancer risk were associated with both referral and testing. Discussion of family history with a doctor predicted counseling referral, whereas belief that family history influenced risk was the strongest BRCA testing predictor. Women perceiving their cancer risk as much higher than other women their age were twice as likely (95% confidence interval: 2.0-9.6) to report genetic counseling referral. In a health system with ready access to cancer genetic counseling and BRCA testing, women who were at high risk underutilized these services. There were strong associations between perceived ovarian cancer risk and genetic counseling referral, and between a belief that family history influenced risk and BRCA testing.

A Retrospective Exploration of the Impact of the 'Angelina Jolie Effect' on the Single State-Wide Familial Cancer Program in Perth, Western Australia.

PubMed

Freedman, Rebecca; Mountain, Helen; Karina, Dian; Schofield, Lyn

2017-02-01

Global media has the power to influence the ways the public engage with health services. On May 14th 2013, Angelina Jolie published an article in the New York Times magazine, outlining her decision to undergo BRCA mutation testing due to a family history of cancer; then proceed with a mastectomy. The article evoked significant interest from the media and the public. During the months that followed, the Familial Cancer Program (FCP) at Genetic Services of Western Australia (GSWA) experienced a significant increase in referrals and enquiries. Resources were overstretched and it became clear we needed to adjust work practices to manage the escalating numbers. New strategies were devised to cope with the influx of enquiries, albeit without the benefit of additional resources. We conducted an audit of referrals to the FCP made between January 2012 and December 2014. This included a comparison of the months prior to and following the New York Times article. The aim of the audit was to quantify the impact of the "Angelina Jolie effect" on referrals to the FCP. Whilst the increased awareness of the role of genetic services in risk assessment and testing for familial breast and ovarian cancer was considered positive, pre-referral risk assessment at the primary health level to evaluate the appropriateness of their patients for referral could have been helpful. Potentially, many inappropriate referrals to FCP may have been avoided with primary health evaluation thus lessening the burden on our service and preventing unnecessary worry in well women who possessed minimal family history or risk factors. It is important to understand the factors driving the uptake of risk reduction activities, particularly if engagement with a genetics service is considered part of that pathway. Continued education about cancer risk due to family history, individual features and awareness surrounding genetic testing criteria, costs and availability is required for both the public and health professionals.

Microchip method for the enrichment of specific DNA sequences

DOEpatents

Mirzabekov, A.D.; Lysov, Y.P.; Shick, V.V.; Dubiley, S.A.

1998-12-22

A method for enriching specific genetic material sequences is provided, whereby oligonucleotide molecules complementary to the desired genetic material is first used to isolate the genetic material from a first source of genomic material. Then the genetic material is used as a label to isolate similar genetic sequences from other sources. 4 figs.

Microchip method for the enrichment of specific DNA sequences

DOEpatents

Mirzabekov, Andrei Darievich; Lysov, Yuri Petrovich; Shick, Valentine Vladimirovich; Dubiley, Svetlana Alekseevna

1998-01-01

A method for enriching specific genetic material sequences is provided, whereby oligonucleotide molecules complementary to the desired genetic material is first used to isolate the genetic material from a first source of genomic material. Then the genetic material is used as a label to isolate similar genetic sequences from other sources.

SWVRHC: On Its Own and Going Strong.

ERIC Educational Resources Information Center

Appalachia, 1985

1985-01-01

Traces Southern West Virginia Regional Health Council's decade of delivering/linking cradle-to-grave health services for 500,000 rural residents. Describes microwave communications radio network; clinics; services in family planning, genetic counseling, prenatal care, maternal/child care, nutrition, heart/respiratory disease screening, renal…

Consumers' views of direct-to-consumer genetic information.

PubMed

McBride, Colleen M; Wade, Christopher H; Kaphingst, Kimberly A

2010-01-01

In this report, we describe the evolution and types of genetic information provided directly to consumers, discuss potential advantages and disadvantages of these products, and review research evaluating consumer responses to direct-to-consumer (DTC) genetic testing. The available evidence to date has focused on predictive tests and does not suggest that individuals, health care providers, or health care systems have been harmed by a DTC provision of genetic information. An understanding of consumer responses to susceptibility tests has lagged behind. The Multiplex Initiative is presented as a case study of research to understand consumers' responses to DTC susceptibility tests. Three priority areas are recommended for accelerated research activities to inform public policy regarding DTC genetic information: (a) exploring consumer's long-term responses to DTC genetic testing on a comprehensive set of outcomes, (b) evaluating optimal services to support decision making about genetic testing, and (c) evaluating best practices in promoting genetic competencies among health providers.

Publishing a master's thesis: a guide for novice authors.

PubMed

Resta, Robert G; McCarthy Veach, Patricia; Charles, Sarah; Vogel, Kristen; Blase, Terri; Palmer, Christina G S

2010-06-01

Publication of original research, clinical experiences, and critical reviews of literature are vital to the growth of the genetic counseling field, delivery of genetic counseling services, and professional development of genetic counselors. Busy clinical schedules, lack of time and funding, and training that emphasizes clinical skills over research skills may make it difficult for new genetic counselors to turn their thesis projects into publications. This paper summarizes and elaborates upon a presentation aimed at de-mystifying the publishing process given at the 2008 National Society of Genetic Counselors Annual Education Conference. Specific topics include familiarizing prospective authors, particularly genetic counseling students, with the basics of the publication process and related ethical considerations. Former students' experiences with publishing master's theses also are described in hopes of encouraging new genetic counselors to submit for publication papers based on their thesis projects.

Translating genomics: cancer genetics, public health and the making of the (de)molecularised body in Cuba and Brazil.

PubMed

Gibbon, Sahra

2016-01-01

This article examines how cancer genetics has emerged as a focus for research and healthcare in Cuba and Brazil. Drawing on ethnographic research undertaken in community genetics clinics and cancer genetics services, the article examines how the knowledge and technologies associated with this novel area of healthcare are translated and put to work by researchers, health professionals, patients and their families in these two contexts. It illuminates the comparative similarities and differences in how cancer genetics is emerging in relation to transnational research priorities, the history and contemporary politics of public health and embodied vulnerability to cancer that reconfigures the scope and meaning of genomics as "personalised" medicine.

7 CFR 340.3 - Notification for the introduction of certain regulated articles. 5

Code of Federal Regulations, 2010 CFR

2010-01-01

... that the introduced genetic sequences do not pose a significant risk of the creation of any new plant... AND PLANT HEALTH INSPECTION SERVICE, DEPARTMENT OF AGRICULTURE INTRODUCTION OF ORGANISMS AND PRODUCTS ALTERED OR PRODUCED THROUGH GENETIC ENGINEERING WHICH ARE PLANT PESTS OR WHICH THERE IS REASON TO BELIEVE...

77 FR 33748 - International Conference on Harmonisation; Guidance on S2(R1) Genotoxicity Testing and Data...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-06-07

... standard genetic toxicology battery for prediction of potential human risks, and on interpreting results... followup testing and interpretation of positive results in vitro and in vivo in the standard genetic... DEPARTMENT OF HEALTH AND HUMAN SERVICES Food and Drug Administration [Docket No. FDA-2008-D-0178...

7 CFR 340.3 - Notification for the introduction of certain regulated articles. 5

Code of Federal Regulations, 2013 CFR

2013-01-01

... that the introduced genetic sequences do not pose a significant risk of the creation of any new plant... AND PLANT HEALTH INSPECTION SERVICE, DEPARTMENT OF AGRICULTURE INTRODUCTION OF ORGANISMS AND PRODUCTS ALTERED OR PRODUCED THROUGH GENETIC ENGINEERING WHICH ARE PLANT PESTS OR WHICH THERE IS REASON TO BELIEVE...

7 CFR 340.3 - Notification for the introduction of certain regulated articles. 5

Code of Federal Regulations, 2014 CFR

2014-01-01

... that the introduced genetic sequences do not pose a significant risk of the creation of any new plant... AND PLANT HEALTH INSPECTION SERVICE, DEPARTMENT OF AGRICULTURE INTRODUCTION OF ORGANISMS AND PRODUCTS ALTERED OR PRODUCED THROUGH GENETIC ENGINEERING WHICH ARE PLANT PESTS OR WHICH THERE IS REASON TO BELIEVE...

7 CFR 340.3 - Notification for the introduction of certain regulated articles. 5

Code of Federal Regulations, 2012 CFR

2012-01-01

... that the introduced genetic sequences do not pose a significant risk of the creation of any new plant... AND PLANT HEALTH INSPECTION SERVICE, DEPARTMENT OF AGRICULTURE INTRODUCTION OF ORGANISMS AND PRODUCTS ALTERED OR PRODUCED THROUGH GENETIC ENGINEERING WHICH ARE PLANT PESTS OR WHICH THERE IS REASON TO BELIEVE...

7 CFR 340.3 - Notification for the introduction of certain regulated articles. 5

Code of Federal Regulations, 2011 CFR

2011-01-01

... that the introduced genetic sequences do not pose a significant risk of the creation of any new plant... AND PLANT HEALTH INSPECTION SERVICE, DEPARTMENT OF AGRICULTURE INTRODUCTION OF ORGANISMS AND PRODUCTS ALTERED OR PRODUCED THROUGH GENETIC ENGINEERING WHICH ARE PLANT PESTS OR WHICH THERE IS REASON TO BELIEVE...

77 FR 41363 - BASF Plant Science, LP; Availability of Petition for Determination of Nonregulated Status of...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-07-13

... Genetically Engineered for Herbicide Tolerance AGENCY: Animal and Plant Health Inspection Service, USDA... herbicides in the imidazolinone family. The petition has been submitted in accordance with our regulations... event BPS-CV127-9, which has been genetically engineered for tolerance to herbicides in the...

77 FR 41361 - Dow AgroSciences LLC; Availability of Petition for Determination of Nonregulated Status of...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-07-13

... Genetically Engineered for Herbicide Tolerance AGENCY: Animal and Plant Health Inspection Service, USDA... broadleaf herbicides in the phenoxy auxin group (such as the herbicide 2,4-D) and the herbicides glyphosate...-44406-6, which has been genetically engineered for tolerance to broadleaf herbicides in the phenoxy...

75 FR 2845 - ArborGen, LLC; Availability of an Environmental Assessment for Controlled Release of a...

Federal Register 2010, 2011, 2012, 2013, 2014

2010-01-19

... Engineered Eucalyptus Hybrid AGENCY: Animal and Plant Health Inspection Service, USDA. ACTION: Notice... for a proposed controlled field release of a genetically engineered clone of a Eucalyptus hybrid. This... proposed controlled field release of a genetically engineered clone of a Eucalyptus hybrid. \\1\\ To view the...

76 FR 72424 - Submission for OMB Review; Comment Request Information Program on the Genetic Testing Registry

Federal Register 2010, 2011, 2012, 2013, 2014

2011-11-23

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health Submission for OMB Review... Office of Management and Budget (OMB) a request to review and approve the information collection listed... more than 2,000 genetic conditions are available; however, there is no centralized public resource that...

Introduction: Religious and Spiritual Issues in Medical Genetics

PubMed Central

Fanning, Joseph B.; Clayton, Ellen Wright

2009-01-01

This article provides an overview of a special issue on the religious and spiritual concerns that arise in the provision of genetic services. It introduces some of the challenges in defining religion and spirituality and provides contexts and summaries for the empirical and normative research that appears in the issue. PMID:19170098

Standards for the Reporting of Genetic Counseling Interventions in Research and Other Studies (GCIRS): an NSGC Task Force Report.

PubMed

Hooker, Gillian W; Babu, D; Myers, M F; Zierhut, H; McAllister, M

2017-06-01

As the demand for evidence to support the value of genetic counseling increases, it is critical that reporting of genetic counseling interventions in research and other types of studies (e.g. process improvement or service evaluation studies) adopt greater rigor. As in other areas of healthcare, the appraisal, synthesis, and translation of research findings into genetic counseling practice are likely to be improved if clear specifications of genetic counseling interventions are reported when studies involving genetic counseling are published. To help improve reporting practices, the National Society of Genetic Counselors (NSGC) convened a task force in 2015 to develop consensus standards for the reporting of genetic counseling interventions. Following review by the NSGC Board of Directors, the NSGC Practice Guidelines Committee and the editorial board of the Journal of Genetic Counseling, 23 items across 8 domains were proposed as standards for the reporting of genetic counseling interventions in the published literature (GCIRS: Genetic Counseling Intervention Reporting Standards). The authors recommend adoption of these standards by authors and journals when reporting studies involving genetic counseling interventions.

A propensity score approach to correction for bias due to population stratification using genetic and non-genetic factors.

PubMed

Zhao, Huaqing; Rebbeck, Timothy R; Mitra, Nandita

2009-12-01

Confounding due to population stratification (PS) arises when differences in both allele and disease frequencies exist in a population of mixed racial/ethnic subpopulations. Genomic control, structured association, principal components analysis (PCA), and multidimensional scaling (MDS) approaches have been proposed to address this bias using genetic markers. However, confounding due to PS can also be due to non-genetic factors. Propensity scores are widely used to address confounding in observational studies but have not been adapted to deal with PS in genetic association studies. We propose a genomic propensity score (GPS) approach to correct for bias due to PS that considers both genetic and non-genetic factors. We compare the GPS method with PCA and MDS using simulation studies. Our results show that GPS can adequately adjust and consistently correct for bias due to PS. Under no/mild, moderate, and severe PS, GPS yielded estimated with bias close to 0 (mean=-0.0044, standard error=0.0087). Under moderate or severe PS, the GPS method consistently outperforms the PCA method in terms of bias, coverage probability (CP), and type I error. Under moderate PS, the GPS method consistently outperforms the MDS method in terms of CP. PCA maintains relatively high power compared to both MDS and GPS methods under the simulated situations. GPS and MDS are comparable in terms of statistical properties such as bias, type I error, and power. The GPS method provides a novel and robust tool for obtaining less-biased estimates of genetic associations that can consider both genetic and non-genetic factors. 2009 Wiley-Liss, Inc.

APOLLO-SOYUZ TEST PROJECT (ASTP) - EQUIPMENT (SEEDS)

NASA Image and Video Library

1975-06-06

S75-27445 (6 June 1975) --- American ASTP crewmen Vance D. Brand (left), Thomas P. Stafford (second from left) and Donald K. Slayton (right) receive a special box of genetically superior white spruce seeds from Glenn A. Kovar (second from right), USDA Forest Service project coordinator. The seeds, enough to plant an acre of trees, will be presented to the Soviet ASTP crewmen during the U.S.-USSR Apollo-Soyuz Test Project docking-in-Earth-orbit mission in July 1975. The seeds will produce faster-growing trees of exceptional height and shape. The trees will thrive in Moscow-like climate, and were developed by Forest Service?s Institute of Forest Genetics in Rhinelander, Wisconsin. The seed container box was made from recycled fibers and stabilized walnut. These seeds are an outstanding example of the U.S. Forest Service research to help produce new improved forests for the world. The four men are standing in the Building 2 briefing room at NASA's Johnson Space Center.

Ligand interaction scan: a general method for engineering ligand-sensitive protein alleles.

PubMed

Erster, Oran; Eisenstein, Miriam; Liscovitch, Mordechai

2007-05-01

The ligand interaction scan (LIScan) method is a general procedure for engineering small molecule ligand-regulated forms of a protein that is complementary to other 'reverse' genetic and chemical-genetic methods for drug-target validation. It involves insertional mutagenesis by a chemical-genetic 'switch', comprising a genetically encoded peptide module that binds with high affinity to a small-molecule ligand. We demonstrated the method with TEM-1 beta-lactamase, using a tetracysteine hexapeptide insert and a biarsenical fluorescein ligand (FlAsH).

"What is this genetics, anyway?" Understandings of genetics, illness causality and inheritance among British Pakistani users of genetic services.

PubMed

Shaw, Alison; Hurst, Jane A

2008-08-01

Misconceptions about basic genetic concepts and inheritance patterns may be widespread in the general population. This paper investigates understandings of genetics, illness causality and inheritance among British Pakistanis referred to a UK genetics clinic. During participant observation of genetics clinic consultations and semi-structured interviews in Urdu or English in respondents' homes, we identified an array of environmental, behavioral and spiritual understandings of the causes of medical and intellectual problems. Misconceptions about the location of genetic information in the body and of genetic mechanisms of inheritance were common, reflected the range of everyday theories observed for White British patients and included the belief that a child receives more genetic material from the father than the mother. Despite some participants' conversational use of genetic terminology, some patients had assimilated genetic information in ways that conflict with genetic theory with potentially serious clinical consequences. Additionally, skepticism of genetic theories of illness reflected a rejection of a dominant discourse of genetic risk that stigmatizes cousin marriages. Patients referred to genetics clinics may not easily surrender their lay or personal theories about the causes of their own or their child's condition and their understandings of genetic risk. Genetic counselors may need to identify, work with and at times challenge patients' understandings of illness causality and inheritance.

Understanding the potential of state-based public health genomics programs to mitigate disparities in access to clinical genetic services.

PubMed

Senier, Laura; Tan, Catherine; Smollin, Leandra; Lee, Rachael

2018-06-12

State health agencies (SHAs) have developed public health genomics (PHG) programs that play an instrumental role in advancing precision public health, but there is limited research on their approaches. This study examines how PHG programs attempt to mitigate or forestall health disparities and inequities in the utilization of genomic medicine. We compared PHG programs in three states: Connecticut, Michigan, and Utah. We analyzed 85 in-depth interviews with SHA internal and external collaborators and program documents. We employed a qualitative coding process to capture themes relating to health disparities and inequities. Each SHA implemented population-level approaches to identify individuals who carry genetic variants that increase risk of hereditary cancers. However, each SHA developed a unique strategy-which we label public health action repertoires-to reach specific subgroups who faced barriers in accessing genetic services. These strategies varied across states given demographics of the state population, state-level partnerships, and availability of healthcare services. Our findings illustrate the imperative of tailoring PHG programs to local demographic characteristics and existing community resources. Furthermore, our study highlights how integrating genomics into precision public health will require multilevel, multisector collaboration to optimize efficacy and equity.

What?s Happening to Your DNA Data?: Genetic Testing Services Abound, but Consumers Opting to Use Them Should Be Aware of the Pitfalls.

PubMed

Grifantini, Kristina

2017-01-01

Over the last decade, technology advances in the field of genetics have led to cheaper and more accurate testing. Public interest in personal genetics has grown thanks to media coverage and high-profile stories, such as actress Angelina Jolie's decision to undergo a double mastectomy as a preventative measure against breast cancer when she learned she carries the BRCA1 mutation (relating to breast cancer type 1 susceptibility).

Undergraduates Achieve Learning Gains in Plant Genetics through Peer Teaching of Secondary Students

PubMed Central

Chrispeels, H. E.; Klosterman, M. L.; Martin, J. B.; Lundy, S. R.; Watkins, J. M.; Gibson, C. L.

2014-01-01

This study tests the hypothesis that undergraduates who peer teach genetics will have greater understanding of genetic and molecular biology concepts as a result of their teaching experiences. Undergraduates enrolled in a non–majors biology course participated in a service-learning program in which they led middle school (MS) or high school (HS) students through a case study curriculum to discover the cause of a green tomato variant. The curriculum explored plant reproduction and genetic principles, highlighting variation in heirloom tomato fruits to reinforce the concept of the genetic basis of phenotypic variation. HS students were taught additional activities related to mole­cular biology techniques not included in the MS curriculum. We measured undergraduates’ learning outcomes using pre/postteaching content assessments and the course final exam. Undergraduates showed significant gains in understanding of topics related to the curriculum they taught, compared with other course content, on both types of assessments. Undergraduates who taught HS students scored higher on questions specific to the HS curriculum compared with undergraduates who taught MS students, despite identical lecture content, on both types of assessments. These results indicate the positive effect of service-learning peer-teaching experiences on undergraduates’ content knowledge, even for non–science major students. PMID:25452487

Autosomal recessive disorders among Arabs: an overview from Kuwait.

PubMed Central

Teebi, A S

1994-01-01

Kuwait has a cosmopolitan population of 1.7 million, mostly Arabs. This population is a mosaic of large and small minorities representing most Arab communities. In general, Kuwait's population is characterized by a rapid rate of growth, large family size, high rates of consanguineous marriages within the Arab communities with low frequency of intermarriage between them, and the presence of genetic isolates and semi-isolates in some extended families and Bedouin tribes. Genetic services have been available in Kuwait for over a decade. During this time it has become clear that Arabs have a high frequency of genetic disorders, and in particular autosomal recessive traits. Their pattern is unique and some disorders are relatively common. Examples are Bardet-Biedl and Meckel syndromes, phenylketonuria, and familial Mediterranean fever. A relatively large number of new syndromes and variants have been delineated in Kuwait's population, many being the result of homozygosity for autosomal recessive genes that occurred because of inbreeding. Some of these syndromes have subsequently been found in other parts of the world, negating the concept of the private syndrome. This paper provides an overview of autosomal recessive disorders among the Arabs in Kuwait from a personal perspective and published studies, and highlights the need for genetic services in Arab countries with the goal of prevention and treatment of genetic disorders. PMID:8014972

Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand.

PubMed

Woon, See-Tarn; Ameratunga, Rohan

2016-01-01

New Zealand is a developed geographically isolated country in the South Pacific with a population of 4.4 million. Genetic diagnosis is the standard of care for most patients with primary immunodeficiency disorders (PIDs). Since 2005, we have offered a comprehensive genetic testing service for PIDs and other immune-related disorders with a published sequence. Here we present results for this program, over the first decade, between 2005 and 2014. We undertook testing in 228 index cases and 32 carriers during this time. The three most common test requests were for X-linked lymphoproliferative (XLP), tumour necrosis factor receptor associated periodic syndrome (TRAPS) and haemophagocytic lymphohistiocytosis (HLH). Of the 32 suspected XLP cases, positive diagnoses were established in only 2 patients. In contrast, genetic defects in 8 of 11 patients with suspected X-linked agammaglobulinemia (XLA) were confirmed. Most XLA patients were initially identified from absence of B cells. Overall, positive diagnoses were made in about 23% of all tests requested. The diagnostic rate was lowest for several conditions with locus heterogeneity. Thorough clinical characterisation of patients can assist in prioritising which genes should be tested. The clinician-driven customised comprehensive genetic service has worked effectively for New Zealand. Next generation sequencing will play an increasing role in disorders with locus heterogeneity.

Hereditary breast and ovarian cancer: successful systematic implementation of a group approach to genetic counselling.

PubMed

Benusiglio, Patrick R; Di Maria, Marina; Dorling, Leila; Jouinot, Anne; Poli, Antoine; Villebasse, Sophie; Le Mentec, Marine; Claret, Béatrice; Boinon, Diane; Caron, Olivier

2017-01-01

The increase in referrals to cancer genetics clinics, partially associated with the "Angelina Jolie effect", presents a challenge to existing services, many are already running at full capacity. More efficient ways to deliver genetic counselling are therefore urgently needed. We now systematically offer group instead of standard individual counselling to patients with suspected Hereditary Breast and Ovarian Cancer. Group sessions last 30 min. The first twenty consist of a presentation by the genetic counsellor, the next ten of a discussion involving a cancer geneticist and a psychologist. A short individual consultation ensues, where personal and family issues are addressed and consent obtained. Blood is drawn afterwards. Satisfaction and knowledge are evaluated. We report data for the Oct-2014-Aug-2015 period. 210 patients attended group counselling, up to eight simultaneously. We always fitted them within a 4-h time frame. Mean satisfaction score was 41/43. Knowledge scores increased from 3.1/6 to 4.9/6 post-counselling (p value < 2.2 × 10 -16 ). Thanks to group counselling, we have withstood increases in referrals without compromising care. The "Angelina Jolie effect" and rapid developments in personalized medicine threaten to overwhelm cancer genetics clinics. In this context, our innovative approach should ensure that all patients have access to approved services.

Operationalizing the Reciprocal Engagement Model of Genetic Counseling Practice: a Framework for the Scalable Delivery of Genomic Counseling and Testing.

PubMed

Schmidlen, Tara; Sturm, Amy C; Hovick, Shelly; Scheinfeldt, Laura; Scott Roberts, J; Morr, Lindsey; McElroy, Joseph; Toland, Amanda E; Christman, Michael; O'Daniel, Julianne M; Gordon, Erynn S; Bernhardt, Barbara A; Ormond, Kelly E; Sweet, Kevin

2018-02-19

With the advent of widespread genomic testing for diagnostic indications and disease risk assessment, there is increased need to optimize genetic counseling services to support the scalable delivery of precision medicine. Here, we describe how we operationalized the reciprocal engagement model of genetic counseling practice to develop a framework of counseling components and strategies for the delivery of genomic results. This framework was constructed based upon qualitative research with patients receiving genomic counseling following online receipt of potentially actionable complex disease and pharmacogenomics reports. Consultation with a transdisciplinary group of investigators, including practicing genetic counselors, was sought to ensure broad scope and applicability of these strategies for use with any large-scale genomic testing effort. We preserve the provision of pre-test education and informed consent as established in Mendelian/single-gene disease genetic counseling practice. Following receipt of genomic results, patients are afforded the opportunity to tailor the counseling agenda by selecting the specific test results they wish to discuss, specifying questions for discussion, and indicating their preference for counseling modality. The genetic counselor uses these patient preferences to set the genomic counseling session and to personalize result communication and risk reduction recommendations. Tailored visual aids and result summary reports divide areas of risk (genetic variant, family history, lifestyle) for each disease to facilitate discussion of multiple disease risks. Post-counseling, session summary reports are actively routed to both the patient and their physician team to encourage review and follow-up. Given the breadth of genomic information potentially resulting from genomic testing, this framework is put forth as a starting point to meet the need for scalable genetic counseling services in the delivery of precision medicine.

The effect of ecosystem biodiversity on virus genetic diversity depends on virus species: A study of chiltepin-infecting begomoviruses in Mexico.

PubMed

Rodelo-Urrego, Manuel; García-Arenal, Fernando; Pagán, Israel

2015-01-01

Current declines in biodiversity put at risk ecosystem services that are fundamental for human welfare. Increasing evidence indicates that one such service is the ability to reduce virus emergence. It has been proposed that the reduction of virus emergence occurs at two levels: through a reduction of virus prevalence/transmission and, as a result of these epidemiological changes, through a limitation of virus genetic diversity. Although the former mechanism has been studied in a few host-virus interactions, very little is known about the association between ecosystem biodiversity and virus genetic diversity. To address this subject, we estimated genetic diversity, synonymous and non-synonymous nucleotide substitution rates, selection pressures, and frequency of recombinants and re-assortants in populations of Pepper golden mosaic virus (PepGMV) and Pepper huasteco yellow vein virus (PHYVV) that infect chiltepin plants in Mexico. We then analyzed how these parameters varied according to the level of habitat anthropization, which is the major cause of biodiversity loss. Our results indicated that genetic diversity of PepGMV (but not of PHYVV) populations increased with the loss of biodiversity at higher levels of habitat anthropization. This was mostly the consequence of higher rates of synonymous nucleotide substitutions, rather than of adaptive selection. The frequency of recombinants and re-assortants was higher in PepGMV populations infecting wild chiltepin than in those infecting cultivated ones, suggesting that genetic exchange is not the main mechanism for generating genetic diversity in PepGMV populations. These findings provide evidence that biodiversity may modulate the genetic diversity of plant viruses, but it may differentially affect even two closely related viruses. Our analyses may contribute to understanding the factors involved in virus emergence.

US system of oversight for genetic testing: a report from the Secretary's Advisory Committee on Genetics, Health and Society.

PubMed

Ferreira-Gonzalez, Andrea; Teutsch, Steven; Williams, Marc S; Au, Sylvia M; Fitzgerald, Kevin T; Miller, Paul Steven; Fomous, Cathy

2008-09-01

As genetic testing technology is integrated into healthcare, increasingly detailed information about individual and population genetic variation is available to patients and providers. Health professionals use genetic testing to diagnose or assess the risk of disease in individuals, families and populations and to guide healthcare decisions. Consumers are beginning to explore personalized genomic services in an effort to learn more about their risk for common diseases. Scientific and technological advances in genetic testing, as with any newly introduced medical technology, present certain challenges to existing frameworks of oversight. In addition, the growing use of genetic testing will require a significant investment in evidence-based assessments to understand the validity and utility of these tests in clinical and personal decisionmaking. To optimize the use of genetic testing in healthcare, all sectors of the oversight system need to be strengthened and yet remain flexible in order to adapt to advances that will inevitably increase the range of genetic tests and methodologies.

The genomic era and serious mental illness: a potential application for psychiatric genetic counseling.

PubMed

Austin, Jehannine C; Honer, William G

2007-02-01

Genetic counseling is an important clinical service that is routinely offered to families affected by genetic disorders or by complex disorders for which genetic testing is available. It is not yet routinely offered to individuals with serious mental illnesses and their families, but recent findings that beliefs about the cause of mental illness can affect an individual's adaptation to the illness suggest that genetic counseling may be a useful intervention for this population. In a genetic counseling session the counselor discusses genetic and environmental contributors to disease pathogenesis; helps individuals explore conceptions, fears, and adaptive strategies; and provides nondirective support for decision making. Expected outcomes may include reductions in fear, stigma, and guilt associated with a psychiatric diagnosis; improvements in adherence to prescribed medications; declines in risk behaviors; and reductions in misconceptions about the illness. The authors endorse a multidisciplinary approach in which a psychiatrist and genetic counselor collaborate to provide comprehensive psychiatric genetic counseling.

Wide disparity of clinical genetics services and EU rare disease research funding across Europe.

PubMed

Lynch, Sally Ann; Borg, Isabella

2016-04-01

The origins of clinical genetics services vary throughout Europe with some emerging from paediatric medicine and others from an academic laboratory setting. In 2011, the cross-border patients' rights directive recommended the creation of European Research Networks (ERNs) to improve patient care throughout EU. In 2013, the EU recommendation on the care for rare diseases came into place. The process of designating EU centres of expertise in rare diseases is being implemented to allow centres to enter ERNs. Hence, this is an opportune time to reflect on the current status of genetic services and research funding throughout Europe as 80 % of rare diseases have a genetic origin. Our aims were to determine (a) whether EU countries are prepared in terms of appropriate clinical genetic staffing to fulfil the European Union Committee of Experts on Rare Diseases (EUCERD) criteria that will allow national centres to be designated as centres of expertise, (b) which EU countries are successful in grant submissions to EU rare disease research funding and (c) country of origin of researchers from the EU presenting their research work as a spoken presentation at the European Society of Human Genetics annual conference. Our results show there is wide disparity of staffing levels per head of population in clinical genetics units throughout Europe. EU rare disease research funding is not being distributed equitably and the opportunity to present research is skewed with many countries not achieving spoken presentations despite abstract submissions. Inequity in the care of patients with rare diseases exists in Europe. Many countries will struggle to designate centres of expertise as their staffing mix and levels will not meet the EUCERD criteria which may prevent them from entering ERNs. The establishment of a small number of centres of expertise centrally, which is welcome, should not occur at the expense of an overall improvement in EU rare disease patient care. Caution should be observed to ensure that the inequity gap that already exists does not widen with the development of ERNs.

What Do Parents Want?: An Analysis of Education-Related Comments Made by Parents of Children with Different Genetic Syndromes.

ERIC Educational Resources Information Center

Fidler, Deborah J.; Lawson, John E.; Hodapp, Robert M.

2003-01-01

An analysis of educational desires found parents of children with Down syndrome (n=39) wanted changes in speech therapy and reading services, parents of children with Prader-Willi syndrome (n=25) wanted increases in adaptive physical education services, and parents of children with Williams syndrome (n=26) wanted increases in music services and…

Genetic engineering of Ganoderma lucidum for the efficient production of ganoderic acids.

PubMed

Xu, Jun-Wei; Zhong, Jian-Jiang

2015-01-01

Ganoderma lucidum is a well-known traditional medicinal mushroom that produces ganoderic acids with numerous interesting bioactivities. Genetic engineering is an efficient approach to improve ganoderic acid biosynthesis. However, reliable genetic transformation methods and appropriate genetic manipulation strategies remain underdeveloped and thus should be enhanced. We previously established a homologous genetic transformation method for G. lucidum; we also applied the established method to perform the deregulated overexpression of a homologous 3-hydroxy-3-methyl-glutaryl coenzyme A reductase gene in G. lucidum. Engineered strains accumulated more ganoderic acids than wild-type strains. In this report, the genetic transformation systems of G. lucidum are described; current trends are also presented to improve ganoderic acid production through the genetic manipulation of G. lucidum.

78 FR 32231 - Pioneer Hi-Bred International, Inc.; Availability of Plant Pest Risk Assessment, Environmental...

Federal Register 2010, 2011, 2012, 2013, 2014

2013-05-29

... DEPARTMENT OF AGRICULTURE Animal and Plant Health Inspection Service [Docket No. APHIS-2012-0031] Pioneer Hi-Bred International, Inc.; Availability of Plant Pest Risk Assessment, Environmental Assessment... Genetically Engineered for Herbicide Resistance AGENCY: Animal and Plant Health Inspection Service, USDA...

75 FR 62549 - National Library of Medicine; Notice of Meeting

Federal Register 2010, 2011, 2012, 2013, 2014

2010-10-12

... DEPARTMENT OF HEALTH AND HUMAN SERVICES National Institutes of Health National Library of Medicine... medical genetics area. Place: National Library of Medicine, Building 38, 2nd Floor, Board Room, 8600... Biotechnology Information, National Library of Medicine, Department of Health and Human Services, Building 38A...

SPERM COUNT, MORPHOLOGY AND FLUORESCENT BODY FREQUENCY IN AUTOPSY SERVICE WORKERS EXPOSED TO FORMALDEHYDE

EPA Science Inventory

The ability of a battery of genetic monitoring tests to detect occupational formaldehyde exposure in a population of a hospital autopsy service workers was investigated. Eleven exposed individuals and 11 matched controls were evaluated for sperm count, abnormal sperm morphology a...

[Application of case-based method in genetics and eugenics teaching].

PubMed

Li, Ya-Xuan; Zhao, Xin; Zhang, Fei-Xiong; Hu, Ying-Kao; Yan, Yue-Ming; Cai, Min-Hua; Li, Xiao-Hui

2012-05-01

Genetics and Eugenics is a cross-discipline between genetics and eugenics. It is a common curriculum in many Chinese universities. In order to increase the learning interest, we introduced case teaching method and got a better teaching effect. Based on our teaching practices, we summarized some experiences about this subject. In this article, the main problem of case-based method applied in Genetics and Eugenics teaching was discussed.

Publishing a Master’s Thesis: A Guide for Novice Authors

PubMed Central

Resta, Robert G.; McCarthy Veach, Patricia; Charles, Sarah; Vogel, Kristen; Blase, Terri

2010-01-01

Publication of original research, clinical experiences, and critical reviews of literature are vital to the growth of the genetic counseling field, delivery of genetic counseling services, and professional development of genetic counselors. Busy clinical schedules, lack of time and funding, and training that emphasizes clinical skills over research skills may make it difficult for new genetic counselors to turn their thesis projects into publications. This paper summarizes and elaborates upon a presentation aimed at de-mystifying the publishing process given at the 2008 National Society of Genetic Counselors Annual Education Conference. Specific topics include familiarizing prospective authors, particularly genetic counseling students, with the basics of the publication process and related ethical considerations. Former students’ experiences with publishing master’s theses also are described in hopes of encouraging new genetic counselors to submit for publication papers based on their thesis projects. PMID:20076994

Disparities in genetic testing: thinking outside the BRCA box.

PubMed

Hall, Michael J; Olopade, Olufunmilayo I

2006-05-10

The impact of predictive genetic testing on cancer care can be measured by the increased demand for and utilization of genetic services as well as in the progress made in reducing cancer risks in known mutation carriers. Nonetheless, differential access to and utilization of genetic counseling and cancer predisposition testing among underserved racial and ethnic minorities compared with the white population has led to growing health care disparities in clinical cancer genetics that are only beginning to be addressed. Furthermore, deficiencies in the utility of genetic testing in underserved populations as a result of limited testing experience and in the effectiveness of risk-reducing interventions compound access and knowledge-base disparities. The recent literature on racial/ethnic health care disparities is briefly reviewed, and is followed by a discussion of the current limitations of risk assessment and genetic testing outside of white populations. The importance of expanded testing in underserved populations is emphasized.

[Genetics and family medicine].

PubMed

Bugarín-González, R; Carracedo, Á

There have been spectacular advances in genetics in the last decades. Their implications in medicine have been so relevant that the family doctor cannot ignore them. However, interestingly, our specialty training program has hardly any contents related to this discipline. For this reason, several publications have warned of the need to correct this deficit and to determine the knowledge, skills and abilities in genetics that should be acquired by family physicians. It is considered that, in addition to some general concepts, we must have training related to genetic testing, genetic counselling, aspects related to hereditary cancers, and to be aware of the ethical and legal limits of genetic information. It is also necessary to establish guidelines for collaboration with the genetic services. Copyright © 2017 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España, S.L.U. All rights reserved.

77 FR 42693 - Monsanto Company and KWS SAAT AG; Determination of Nonregulated Status of Sugar Beet Genetically...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-07-20

... for Tolerance to the Herbicide Glyphosate AGENCY: Animal and Plant Health Inspection Service, USDA... engineered for tolerance to the herbicide glyphosate, designated as H7-1, is no longer considered a regulated... as event H7-1, which has been genetically engineered for tolerance to the herbicide glyphosate. The...

75 FR 21002 - Notice of Meeting: Secretary's Advisory Committee on Genetics, Health, and Society

Federal Register 2010, 2011, 2012, 2013, 2014

2010-04-22

...'s Advisory Committee on Genetics, Health, and Society Pursuant to Public Law 92-463, notice is... Society (SACGHS), U.S. Public Health Service. The meeting will be held from 8:30 a.m. to approximately 5..., health and society. Please note that because SACGHS operates under the provisions of the Federal Advisory...

75 FR 52949 - Notice of Meeting: Secretary's Advisory Committee on Genetics, Health, and Society

Federal Register 2010, 2011, 2012, 2013, 2014

2010-08-30

...'s Advisory Committee on Genetics, Health, and Society Pursuant to Public Law 92-463, notice is... Society (SACGHS), U.S. Public Health Service. The meeting will be held from 8:30 a.m. to approximately 5..., health and society. Please note that because SACGHS operates under the provisions of the Federal Advisory...

Cytogenetic Profile of Down Syndrome Cases Seen by a General Genetics Outpatient Service in Brazil

ERIC Educational Resources Information Center

Biselli, Joice; Goloni-Bertollo, Eny; Ruiz, Mariangela; Pavarino-Bertelli, Erika

2009-01-01

Down syndrome or trisomy 21 can be caused by three types of chromosomal abnormalities: free trisomy 21, translocation or mosaicism. The cytogenetic diagnosis, made through karyotypic examination, is important mainly to determine recurrence risks to assist genetic counselling. The object of this work was to carry out a cytogenetic profile of…

'HoneySweet' (C5), the first genetically engineered Plum pox virus-resistant plum (Prunus domestica L.) cultivar

USDA-ARS?s Scientific Manuscript database

‘HoneySweet’ plum was released by the U.S. Department of Agriculture, Agricultural Research Service, to provide U.S. growers and P. domestica plum breeders with a high fruit quality plum cultivar resistant to Plum pox virus (PPV). ‘HoneySweet’ was developed through genetic engineering utilizing the...

Rocky Mountain Center for Conservation Genetics and Systematics

USGS Publications Warehouse

Oyler-McCance, S.J.; Quinn, T.W.

2005-01-01

The use of molecular genetic tools has become increasingly important in addressing conservation issues pertaining to plants and animals. Genetic information can be used to augment studies of population dynamics and population viability, investigate systematic, refine taxonomic definitions, investigate population structure and gene flow, and document genetic diversity in a variety of plant and animal species. Further, genetic techniques are being used to investigate mating systems through paternity analysis, and analyze ancient DNA samples from museum specimens, and estimate population size and survival rates using DNA as a unique marker. Such information is essential for the sound management of small, isolated populations of concern and is currently being used by universities, zoos, the U.S. Fish and Wildlife Service, and numerous state fish and wildlife agencies.

Determination of thiamine HCl and pyridoxine HCl in pharmaceutical preparations using UV-visible spectrophotometry and genetic algorithm based multivariate calibration methods.

PubMed

Ozdemir, Durmus; Dinc, Erdal

2004-07-01

Simultaneous determination of binary mixtures pyridoxine hydrochloride and thiamine hydrochloride in a vitamin combination using UV-visible spectrophotometry and classical least squares (CLS) and three newly developed genetic algorithm (GA) based multivariate calibration methods was demonstrated. The three genetic multivariate calibration methods are Genetic Classical Least Squares (GCLS), Genetic Inverse Least Squares (GILS) and Genetic Regression (GR). The sample data set contains the UV-visible spectra of 30 synthetic mixtures (8 to 40 microg/ml) of these vitamins and 10 tablets containing 250 mg from each vitamin. The spectra cover the range from 200 to 330 nm in 0.1 nm intervals. Several calibration models were built with the four methods for the two components. Overall, the standard error of calibration (SEC) and the standard error of prediction (SEP) for the synthetic data were in the range of <0.01 and 0.43 microg/ml for all the four methods. The SEP values for the tablets were in the range of 2.91 and 11.51 mg/tablets. A comparison of genetic algorithm selected wavelengths for each component using GR method was also included.

Marker-based quantitative genetics in the wild?: the heritability and genetic correlation of chemical defenses in eucalyptus.

PubMed

Andrew, R L; Peakall, R; Wallis, I R; Wood, J T; Knight, E J; Foley, W J

2005-12-01

Marker-based methods for estimating heritability and genetic correlation in the wild have attracted interest because traditional methods may be impractical or introduce bias via G x E effects, mating system variation, and sampling effects. However, they have not been widely used, especially in plants. A regression-based approach, which uses a continuous measure of genetic relatedness, promises to be particularly appropriate for use in plants with mixed-mating systems and overlapping generations. Using this method, we found significant narrow-sense heritability of foliar defense chemicals in a natural population of Eucalyptus melliodora. We also demonstrated a genetic basis for the phenotypic correlation underlying an ecological example of conditioned flavor aversion involving different biosynthetic pathways. Our results revealed that heritability estimates depend on the spatial scale of the analysis in a way that offers insight into the distribution of genetic and environmental variance. This study is the first to successfully use a marker-based method to measure quantitative genetic parameters in a tree. We suggest that this method will prove to be a useful tool in other studies and offer some recommendations for future applications of the method.

Using a social marketing framework to evaluate recruitment of a prospective study of genetic counseling and testing for the deaf community

PubMed Central

2013-01-01

Background Recruiting deaf and hard-of-hearing participants, particularly sign language-users, for genetics health service research is challenging due to communication barriers, mistrust toward genetics, and researchers’ unfamiliarity with deaf people. Feelings of social exclusion and lack of social cohesion between researchers and the Deaf community are factors to consider. Social marketing is effective for recruiting hard-to-reach populations because it fosters social inclusion and cohesion by focusing on the targeted audience’s needs. For the deaf population this includes recognizing their cultural and linguistic diversity, their geography, and their systems for information exchange. Here we use concepts and language from social marketing to evaluate our effectiveness to engage a U.S. deaf population in a prospective, longitudinal genetic counseling and testing study. Methods The study design was interpreted in terms of a social marketing mix of Product, Price, Place, and Promotion. Price addressed linguistic diversity by including a variety of communication technologies and certified interpreters to facilitate communication; Place addressed geography by including community-based participation locations; Promotion addressed information exchange by using multiple recruitment strategies. Regression analyses examined the study design’s effectiveness in recruiting a culturally and linguistically diverse sample. Results 271 individuals were enrolled, with 66.1% American Sign Language (ASL)-users, 19.9% ASL + English-users, 12.6% English-users. Language was significantly associated with communication technology, participation location, and recruitment. Videophone and interpreters were more likely to be used for communication between ASL-users and researchers while voice telephone and no interpreters were preferred by English-users (Price). ASL-users were more likely to participate in community-based locations while English-users preferred medically-based locations (Place). English-users were more likely to be recruited through mass media (Promotion) while ASL-users were more likely to be recruited through community events and to respond to messaging that emphasized inclusion of a Deaf perspective. Conclusions This study design effectively engaged the deaf population, particularly sign language-users. Results suggest that the deaf population’s cultural and linguistic diversity, geography, and forms of information exchange must be taken into account in study designs for successful recruitment. A social marketing approach that incorporates critical social determinants of health provides a novel and important framework for genetics health service research targeting specific, and hard-to-reach, underserved groups. PMID:24274380

Prospects and problems of direct-to-public genetic tests.

PubMed

Tracy, Erin E

2008-09-01

Direct-to-consumer advertising of genetic tests is prevalent, poorly regulated and fraught with potential negative public-health ramifications. While some genetic tests are available through means that safeguard patient understanding of the implications of having genetic tests performed, others are available to anyone who has a credit card, without any individualized counseling, assessment of whether such tests are indicated, or interpretation of test results. While the US FDA, the Centers for Medicare and Medicaid Services and the Federal Trade Commission all have a regulatory role, most experts agree that the industry is not adequately being reigned in to best protect the public it serves.

77 FR 41364 - Pioneer Hi-Bred International, Inc.; Availability of Petition for Determination of Nonregulated...

Federal Register 2010, 2011, 2012, 2013, 2014

2012-07-13

... DEPARTMENT OF AGRICULTURE Animal and Plant Health Inspection Service [Docket No. APHIS-2012-0031] Pioneer Hi-Bred International, Inc.; Availability of Petition for Determination of Nonregulated Status of Canola Genetically Engineered for Herbicide Tolerance AGENCY: Animal and Plant Health Inspection Service...

Methods in Molecular Biology Mouse Genetics: Methods and Protocols | Center for Cancer Research

Cancer.gov

Mouse Genetics: Methods and Protocols provides selected mouse genetic techniques and their application in modeling varieties of human diseases. The chapters are mainly focused on the generation of different transgenic mice to accomplish the manipulation of genes of interest, tracing cell lineages, and modeling human diseases.

Precision Oncology and Genetic Risk Information: Exploring Patients' Preferences and Responses

Cancer.gov

Dr. Jada Hamilton is an Assistant Member at Memorial Sloan Kettering Cancer Center, as well as an Assistant Attending Psychologist in the Behavioral Sciences Service, Department of Psychiatry and Behavioral Sciences and in the Clinical Genetics Service, Department of Medicine at Memorial Hospital in New York, New York.  She leads a program of research at the intersection of behavioral science, cancer prevention, and genomics, with the goal of translating advances in genetic and genomic medicine into improved cancer care that is of high quality, aligned with patient preferences, and ultimately improves public health.  Dr. Hamilton is also currently leading a study to assess how patients and their families respond to inherited risk information that is revealed as part of tumor sequencing (funded through a Mentored Research Scholar Grant from the American Cancer Society), as well as studies to evaluate alternative models for offering genetic counseling and testing to patients with cancer, and to examine the effects of novel breast cancer genetic risk feedback on patients’ decision-making, psychological, and behavioral outcomes. Prior to joining the faculty of Memorial Sloan Kettering, Dr. Hamilton received a BA in Genetics and Psychology from Ohio Wesleyan University (2004), an MA and PhD in Social and Health Psychology from Stony Brook University (2006, 2009), and an MPH from the Mailman School of Public Health at Columbia University (2010).  She also completed a postdoctoral fellowship as part of the National Cancer Institute’s Cancer Prevention Fellowship Program.

RELAGH - The challenge of having a scientific network in Latin America: An account from the presidents.

PubMed

Rojas-Martínez, Augusto; Giraldo-Ríos, Alejandro; Jiménez-Arce, Gerardo; de Vargas, Aída Falcón; Giugliani, Roberto

2014-03-01

Latin America and the Caribbean region make up one of the largest areas of the world, and this region is characterized by a complex mixture of ethnic groups sharing Iberian languages. The area is comprised of nations and regions with different levels of social development. This region has experienced historical advances in the last decades to increase the minimal standards of quality of life; however, several factors, such as concentrated populations in large urban centers and isolated and poor communities, still have an important impact on medical services, particularly genetics services. Latin American researchers have greatly contributed to the development of human genetics and historic inter-ethnic diversity, and the multiplicity of geographic areas are unique for the study of gene-environment interactions. As a result of regional developments in the fields of human and medical genetics, the Latin American Network of Human Genetics (Red Latinoamericana de Genética Humana - RELAGH) was created in 2001 to foster the networking of national associations and societies dedicated to these scientific disciplines. RELAGH has developed important educational activities, such as the Latin American School of Human and Medical Genetics (ELAG), and has held three biannual meetings to encourage international research cooperation among the member countries and international organizations. Since its foundation, RELAGH has been admitted as a full regional member to the International Federation of Human Genetics Societies. This article describes the historical aspects, activities, developments, and challenges that are still faced by the Network.

RELAGH - The challenge of having a scientific network in Latin America: An account from the presidents

PubMed Central

Rojas-Martínez, Augusto; Giraldo-Ríos, Alejandro; Jiménez-Arce, Gerardo; de Vargas, Aída Falcón; Giugliani, Roberto

2014-01-01

Latin America and the Caribbean region make up one of the largest areas of the world, and this region is characterized by a complex mixture of ethnic groups sharing Iberian languages. The area is comprised of nations and regions with different levels of social development. This region has experienced historical advances in the last decades to increase the minimal standards of quality of life; however, several factors, such as concentrated populations in large urban centers and isolated and poor communities, still have an important impact on medical services, particularly genetics services. Latin American researchers have greatly contributed to the development of human genetics and historic inter-ethnic diversity, and the multiplicity of geographic areas are unique for the study of gene-environment interactions. As a result of regional developments in the fields of human and medical genetics, the Latin American Network of Human Genetics (Red Latinoamericana de Genética Humana - RELAGH) was created in 2001 to foster the networking of national associations and societies dedicated to these scientific disciplines. RELAGH has developed important educational activities, such as the Latin American School of Human and Medical Genetics (ELAG), and has held three biannual meetings to encourage international research cooperation among the member countries and international organizations. Since its foundation, RELAGH has been admitted as a full regional member to the International Federation of Human Genetics Societies. This article describes the historical aspects, activities, developments, and challenges that are still faced by the Network. PMID:24764765

Genetic engineering of Ganoderma lucidum for the efficient production of ganoderic acids

PubMed Central

Xu, Jun-Wei; Zhong, Jian-Jiang

2015-01-01

Ganoderma lucidum is a well-known traditional medicinal mushroom that produces ganoderic acids with numerous interesting bioactivities. Genetic engineering is an efficient approach to improve ganoderic acid biosynthesis. However, reliable genetic transformation methods and appropriate genetic manipulation strategies remain underdeveloped and thus should be enhanced. We previously established a homologous genetic transformation method for G. lucidum; we also applied the established method to perform the deregulated overexpression of a homologous 3-hydroxy-3-methyl-glutaryl coenzyme A reductase gene in G. lucidum. Engineered strains accumulated more ganoderic acids than wild-type strains. In this report, the genetic transformation systems of G. lucidum are described; current trends are also presented to improve ganoderic acid production through the genetic manipulation of G. lucidum. PMID:26588475

Genetics educational needs in China: physicians' experience and knowledge of genetic testing.

PubMed

Li, Jing; Xu, Tengda; Yashar, Beverly M

2015-09-01

The aims of this study were to explore the relationship between physicians' knowledge and utilization of genetic testing and to explore genetics educational needs in China. An anonymous survey about experience, attitudes, and knowledge of genetic testing was conducted among physicians affiliated with Peking Union Medical College Hospital during their annual health evaluation. A personal genetics knowledge score was developed and predictors of personal genetics knowledge score were evaluated. Sixty-four physicians (33% male) completed the survey. Fifty-eight percent of them had used genetic testing in their clinical practice. Using a 4-point scale, mean knowledge scores of six common genetic testing techniques ranged from 1.7 ± 0.9 to 2.4 ± 1.0, and the average personal genetics knowledge score was 2.1 ± 0.8. In regression analysis, significant predictors of higher personal genetics knowledge score were ordering of genetic testing, utilization of pedigrees, higher medical degree, and recent genetics training (P < 0.05). Sixty-six percent of physicians indicated a desire for specialized genetic services, and 84% reported a desire for additional genetics education. This study demonstrated a sizable gap between Chinese physicians' knowledge and utilization of genetic testing. Participants had high self-perceived genetics educational needs. Development of genetics educational platforms is both warranted and desired in China.Genet Med 17 9, 757-760.

Epistasis and Its Implications for Personal Genetics

PubMed Central

Moore, Jason H.; Williams, Scott M.

2009-01-01

The widespread availability of high-throughput genotyping technology has opened the door to the era of personal genetics, which brings to consumers the promise of using genetic variations to predict individual susceptibility to common diseases. Despite easy access to commercial personal genetics services, our knowledge of the genetic architecture of common diseases is still very limited and has not yet fulfilled the promise of accurately predicting most people at risk. This is partly because of the complexity of the mapping relationship between genotype and phenotype that is a consequence of epistasis (gene-gene interaction) and other phenomena such as gene-environment interaction and locus heterogeneity. Unfortunately, these aspects of genetic architecture have not been addressed in most of the genetic association studies that provide the knowledge base for interpreting large-scale genetic association results. We provide here an introductory review of how epistasis can affect human health and disease and how it can be detected in population-based studies. We provide some thoughts on the implications of epistasis for personal genetics and some recommendations for improving personal genetics in light of this complexity. PMID:19733727

Epistasis and its implications for personal genetics.

PubMed

Moore, Jason H; Williams, Scott M

2009-09-01

The widespread availability of high-throughput genotyping technology has opened the door to the era of personal genetics, which brings to consumers the promise of using genetic variations to predict individual susceptibility to common diseases. Despite easy access to commercial personal genetics services, our knowledge of the genetic architecture of common diseases is still very limited and has not yet fulfilled the promise of accurately predicting most people at risk. This is partly because of the complexity of the mapping relationship between genotype and phenotype that is a consequence of epistasis (gene-gene interaction) and other phenomena such as gene-environment interaction and locus heterogeneity. Unfortunately, these aspects of genetic architecture have not been addressed in most of the genetic association studies that provide the knowledge base for interpreting large-scale genetic association results. We provide here an introductory review of how epistasis can affect human health and disease and how it can be detected in population-based studies. We provide some thoughts on the implications of epistasis for personal genetics and some recommendations for improving personal genetics in light of this complexity.

Privacy of genetic information: a review of the laws in the United States.

PubMed

Fuller, B; Ip, M

2001-01-01

This paper examines the privacy of genetic information and the laws in the United States designed to protect genetic privacy. While all 50 states have laws protecting the privacy of health information, there are many states that have additional laws that carve out additional protections specifically for genetic information. The majority of the individual states have enacted legislation to protect individuals from discrimination on the basis of genetic information, and most of this legislation also has provisions to protect the privacy of genetic information. On the Federal level, there has been no antidiscrimination or genetic privacy legislation. Secretary Donna Shalala of the Department of Health and Human Services has issued proposed regulations to protect the privacy of individually identifiable health information. These regulations encompass individually identifiable health information and do not make specific provisions for genetic information. The variety of laws regarding genetic privacy, some found in statutes to protect health information and some found in statutes to prevent genetic discrimination, presents challenges to those charged with administering and executing these laws.

A comparative study of commercial lithium ion battery cycle life in electrical vehicle: Aging mechanism identification

NASA Astrophysics Data System (ADS)

Han, Xuebing; Ouyang, Minggao; Lu, Languang; Li, Jianqiu; Zheng, Yuejiu; Li, Zhe

2014-04-01

When lithium-ion batteries age with cycling, the battery capacity decreases and the resistance increases. The aging mechanism of different types of lithium-ion batteries differs. The loss of lithium inventory, loss of active material, and the increase in resistance may result in battery aging. Generally, analysis of the battery aging mechanism requires dismantling of batteries and using methods such as X-ray diffraction and scanning electron microscopy. These methods may permanently damage the battery. Therefore, the methods are inappropriate for the battery management system (BMS) in an electric vehicle. The constant current charging curves while charging the battery could be used to get the incremental capacity and differential voltage curves for identifying the aging mechanism; the battery state-of-health can then be estimated. This method can be potentially used in the BMS for online diagnostic and prognostic services. The genetic algorithm could be used to quantitatively analyze the battery aging offline. And the membership function could be used for onboard aging mechanism identification.

Estimation and Partitioning of Heritability in Human Populations using Whole Genome Analysis Methods

PubMed Central

Vinkhuyzen, Anna AE; Wray, Naomi R; Yang, Jian; Goddard, Michael E; Visscher, Peter M

2014-01-01

Understanding genetic variation of complex traits in human populations has moved from the quantification of the resemblance between close relatives to the dissection of genetic variation into the contributions of individual genomic loci. But major questions remain unanswered: how much phenotypic variation is genetic, how much of the genetic variation is additive and what is the joint distribution of effect size and allele frequency at causal variants? We review and compare three whole-genome analysis methods that use mixed linear models (MLM) to estimate genetic variation, using the relationship between close or distant relatives based on pedigree or SNPs. We discuss theory, estimation procedures, bias and precision of each method and review recent advances in the dissection of additive genetic variation of complex traits in human populations that are based upon the application of MLM. Using genome wide data, SNPs account for far more of the genetic variation than the highly significant SNPs associated with a trait, but they do not account for all of the genetic variance estimated by pedigree based methods. We explain possible reasons for this ‘missing’ heritability. PMID:23988118

An Exploration of Attitudes Among Black Americans Towards Psychiatric Genetic Research

PubMed Central

Murphy, Eleanor; Thompson, Azure

2011-01-01

With increasing emphasis on understanding genetic contribution to disease, inclusion of all racial and ethnic groups in molecular genetic research is necessary to ensure parity in distribution of research benefits. Blacks are underrepresented in large-scale genetic studies of psychiatric disorders. In an effort to understand the reasons for the underrepresentation, this study explored black participants’ attitudes towards genetic research of psychiatric disorders. Twenty-six adults, the majority of whom were black (n = 18) were recruited from a New York City community to participate in six 90-minute focus groups. This paper reports findings about respondents’ understanding of genetics and genetic research, and opinions about psychiatric genetic research. Primary themes revealed participants’ perceived lack of knowledge about genetics, concerns about potentially harmful study procedures, and confidentiality surrounding mental illness in families. Participation incentives included provision of treatment or related service, monetary compensation, and reporting of results to participants. These findings suggest that recruitment of subjects into genetic studies should directly address procedures, privacy, benefits and follow-up with results. Further, there is critical need to engage communities with education about genetics and mental illness, and provide opportunities for continued discussion about concerns related to genetic research. PMID:19614555

Perceptions of genetics research as harmful to society: differences among samples of African-Americans and European-Americans.

PubMed

Furr, L Allen

2002-01-01

Genetics has the potential not only to find cures for diseases, but to possess the mechanisms to change the bio-social make-up of populations. A specific question that has arisen on this issue is how developments in genetic technology may intersect with existing race and ethnic relations. Evidence of the racialization of some genetic disorders has been demonstrated elsewhere. The purpose of this study is to compare and contrast African-American and European-American attitudes on the benefits of genetics research for society. Findings show that African-Americans were more likely to say genetics research is harmful for society. This relationship remained statistically significant after controls were introduced in a regression model. Demographic characteristics and self-rated knowledge of genetics had no effect on attitudes among African-Americans. A willingness to use genetic services correlated with favorable attitudes. Differences in social position may lead some groups to opposing interpretations and symbolic meanings of genetics. This may be true in the context of this study because the social meanings of genetics may be tainted by racialization, historical attempts at eugenics, and the potential abuse of genetics targeting groups partially defined by superficial genetic characteristics.

[Difficulties of genetic counselling in rare, mainly neurogenetic disorders].

PubMed

Horváth, Emese; Nagy, Nikoletta; Széll, Márta

2014-08-03

In recent decades methods used for the investigation of the genetic background of rare diseases showed a great improvement. The aim of the authors was to demonstrate difficulties of genetic counselling and investigations in case of five rare, mainly neurogenetic diseases. During pre-test genetic counselling, the disease suspected from the clinical symptoms and the available genetic tests were considered. During post-test genetic counselling, the results of the genetic tests were discussed. In three of the five cases genetic tests identified the disease-causing genetic abnormalities, while in two cases the causative abnormalities were not identified. Despite a great improvement of the available genetic methods, the causative genetic abnormalities cannot be identified in some cases. The genetic counsellor has a key role in the assessment and interpretation of the results and in helping the family planning.

Analysis of conditional genetic effects and variance components in developmental genetics.

PubMed

Zhu, J

1995-12-01

A genetic model with additive-dominance effects and genotype x environment interactions is presented for quantitative traits with time-dependent measures. The genetic model for phenotypic means at time t conditional on phenotypic means measured at previous time (t-1) is defined. Statistical methods are proposed for analyzing conditional genetic effects and conditional genetic variance components. Conditional variances can be estimated by minimum norm quadratic unbiased estimation (MINQUE) method. An adjusted unbiased prediction (AUP) procedure is suggested for predicting conditional genetic effects. A worked example from cotton fruiting data is given for comparison of unconditional and conditional genetic variances and additive effects.

Analysis of Conditional Genetic Effects and Variance Components in Developmental Genetics

PubMed Central

Zhu, J.

1995-01-01

A genetic model with additive-dominance effects and genotype X environment interactions is presented for quantitative traits with time-dependent measures. The genetic model for phenotypic means at time t conditional on phenotypic means measured at previous time (t - 1) is defined. Statistical methods are proposed for analyzing conditional genetic effects and conditional genetic variance components. Conditional variances can be estimated by minimum norm quadratic unbiased estimation (MINQUE) method. An adjusted unbiased prediction (AUP) procedure is suggested for predicting conditional genetic effects. A worked example from cotton fruiting data is given for comparison of unconditional and conditional genetic variances and additive effects. PMID:8601500

Quality assurance and quality improvement in U.S. clinical molecular genetic laboratories.

PubMed

Chen, Bin; Richards, C Sue; Wilson, Jean Amos; Lyon, Elaine

2011-04-01

A robust quality-assurance program is essential for laboratories that perform molecular genetic testing to maintain high-quality testing and be able to address challenges associated with performance or delivery of testing services as the use of molecular genetic tests continues to expand in clinical and public health practice. This unit discusses quality-assurance and quality-improvement considerations that are critical for molecular genetic testing performed for heritable diseases and conditions. Specific discussion is provided on applying regulatory standards and best practices in establishing/verifying test performance, ensuring quality of the total testing process, monitoring and maintaining personnel competency, and continuing quality improvement. The unit provides a practical reference for laboratory professionals to use in recognizing and addressing essential quality-assurance issues in human molecular genetic testing. It should also provide useful information for genetics researchers, trainees, and fellows in human genetics training programs, as well as others who are interested in quality assurance and quality improvement for molecular genetic testing. 2011 by John Wiley & Sons, Inc.

Living in a Genetic World: How Learning About Interethnic Genetic Similarities and Differences Affects Peace and Conflict.

PubMed

Kimel, Sasha Y; Huesmann, Rowell; Kunst, Jonas R; Halperin, Eran

2016-05-01

Information about the degree of one's genetic overlap with ethnic outgroups has been emphasized in genocides, is frequently learned about through media reporting, and is increasingly being accessed via personal genetic testing services. However, the consequence of learning about whether your own ethnic group is either genetically related to or genetically distinct from a disliked ethnic group remains unknown. Across four experiments, using diverse samples, measures and contexts, we demonstrate that altering perceptions of genetic overlap between groups in conflict--in this case Arabs and Jews--impacts factors that are directly related to interethnic hostility (e.g., aggressive behaviors, support of conflict-related policies). Our findings indicate that learning about the genetic difference between oneself and an ethnic outgroup may contribute to the promotion of violence, whereas learning about the similarities may be a vital step toward fostering peace in some contexts. Possible interventions and implications are discussed. © 2016 by the Society for Personality and Social Psychology, Inc.

Interactive genetic counseling role-play: a novel educational strategy for family physicians.

PubMed

Blaine, Sean M; Carroll, June C; Rideout, Andrea L; Glendon, Gord; Meschino, Wendy; Shuman, Cheryl; Telner, Deanna; Van Iderstine, Natasha; Permaul, Joanne

2008-04-01

Family physicians (FPs) are increasingly involved in delivering genetic services. Familiarization with aspects of genetic counseling may enable FPs to help patients make informed choices. Exploration of interactive role-play as a means to raise FPs' awareness of the process and content of genetic counseling. FPs attending two large Canadian family medicine conferences in 2005 were eligible -- 93 participated. FPs discussed a case during a one-on-one session with a genetic counselor. Evaluation involved pre and post intervention questionnaires FPs' baseline genetic knowledge was self-rated as uniformly poor. Baseline confidence was highest in eliciting family history and providing psychosocial support and lowest in discussing risks/benefits of genetic testing and counseling process. Post-intervention, 80% of FPs had better appreciation of family history and 97% indicated this was an effective learning experience. Role-play with FPs is effective in raising awareness of the process and content of genetic counseling and may be applied to other health disciplines.

Cross-border reprogenetic services.

PubMed

Couture, V; Drouin, R; Tan, S-L; Moutquin, J-M; Bouffard, C

2015-01-01

The purpose of this review is to synthesize the current knowledge on the international movement of patients and biopsied embryo cells for pre-implantation genetic diagnosis and its different applications. Thus far, few attempts have been made to identify the specific nature of this phenomenon called 'cross-border reprogenetic services'. There is scattered evidence, both empirical and speculative, suggesting that these services raise major issues in terms of service provision, risks for patients and the children-to-come, the legal liabilities of physicians, as well as social justice. To compile this evidence, this review uses the narrative overview protocol combined with thematic analysis. Five major themes have emerged from the literature at the conjunction of cross-border treatments and reprogenetics: 'scope', 'scale', 'motivations', 'concerns', and 'governance'. Similar themes have already been observed in the case of other medical tourism activities, but this review highlights their singularity with reprogenetic services. It emphasizes the diagnostic and autologous feature of reprogenetics, the constant risk of misdiagnosis, the restriction on certain tests for medically controversial conditions, and the uncertain accessibility of genetic counseling in cross-border settings. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Comparison of genetic algorithm methods for fuel management optimization

DOE Office of Scientific and Technical Information (OSTI.GOV)

DeChaine, M.D.; Feltus, M.A.

1995-12-31

The CIGARO system was developed for genetic algorithm fuel management optimization. Tests are performed to find the best fuel location swap mutation operator probability and to compare genetic algorithm to a truly random search method. Tests showed the fuel swap probability should be between 0% and 10%, and a 50% definitely hampered the optimization. The genetic algorithm performed significantly better than the random search method, which did not even satisfy the peak normalized power constraint.

Birth of mice after in vitro fertilization using C57BL/6 sperm transported within epididymides at refrigerated temperatures.

PubMed

Mochida, K; Ohkawa, M; Inoue, K; Valdez, D M; Kasai, M; Ogura, A

2005-07-01

The transportation of cryopreserved spermatozoa is an economical, efficient, and safe method for the distribution of mouse strains from one facility to another. However, spermatozoa from some strains, including C57BL/6 (B6), are very sensitive to freezing and thawing and frequently fail to fertilize eggs by conventional in vitro fertilization methods at the recipient mouse facility. Since many genetically engineered mice have the B6 genetic background, this sensitivity poses a major obstacle to studies of mouse genetics. We investigated the feasibility of transporting spermatozoa within epididymides under non-freezing conditions. First, we examined the interval that B6 and B6D2F1 (BDF1) spermatozoa retained their ability to fertilize when stored within epididymides at low temperatures (5 degrees C or 7 degrees C). Fertilization rates were >50%, irrespective of the spermatozoa used, when epididymides were stored for 3d at 7 degrees C. B6 spermatozoa, but not BDF1 sperm, had better retention of fertilizing ability at 7 degrees C versus 5 degrees C. We then transported freshly collected B6 and BDF1 epididymides from a sender colony to a recipient colony using a common package delivery service, during which the temperature was maintained at 5 degrees C or 7 degrees C for 2d. Sufficiently high fertilization rates (68.0-77.5%) were obtained for all experimental groups, except for B6 spermatozoa transported at 5 degrees C. These spermatozoa were successfully cryopreserved at the recipient facility and, yielded post-thaw fertilization rates of 27.6-66.4%. When embryos derived from the B6 spermatozoa that were transported at 7 degrees C were transferred into recipient females, 52.7% (38/72) developed to term. In conclusion, transportation of epididymides at refrigerated temperatures is a practical method for the exchange of mouse genetic resources between facilities, especially when these facilities do not specialize in sperm cryopreservation. For the B6 mouse strain, the transportation of epididymides at 7 degrees C rather than 5 degrees C, is recommended.

A Parallel Genetic Algorithm to Discover Patterns in Genetic Markers that Indicate Predisposition to Multifactorial Disease

PubMed Central

Rausch, Tobias; Thomas, Alun; Camp, Nicola J.; Cannon-Albright, Lisa A.; Facelli, Julio C.

2008-01-01

This paper describes a novel algorithm to analyze genetic linkage data using pattern recognition techniques and genetic algorithms (GA). The method allows a search for regions of the chromosome that may contain genetic variations that jointly predispose individuals for a particular disease. The method uses correlation analysis, filtering theory and genetic algorithms (GA) to achieve this goal. Because current genome scans use from hundreds to hundreds of thousands of markers, two versions of the method have been implemented. The first is an exhaustive analysis version that can be used to visualize, explore, and analyze small genetic data sets for two marker correlations; the second is a GA version, which uses a parallel implementation allowing searches of higher-order correlations in large data sets. Results on simulated data sets indicate that the method can be informative in the identification of major disease loci and gene-gene interactions in genome-wide linkage data and that further exploration of these techniques is justified. The results presented for both variants of the method show that it can help genetic epidemiologists to identify promising combinations of genetic factors that might predispose to complex disorders. In particular, the correlation analysis of IBD expression patterns might hint to possible gene-gene interactions and the filtering might be a fruitful approach to distinguish true correlation signals from noise. PMID:18547558

The challenge for genetic epidemiologists: how to analyze large numbers of SNPs in relation to complex diseases.

PubMed

Heidema, A Geert; Boer, Jolanda M A; Nagelkerke, Nico; Mariman, Edwin C M; van der A, Daphne L; Feskens, Edith J M

2006-04-21

Genetic epidemiologists have taken the challenge to identify genetic polymorphisms involved in the development of diseases. Many have collected data on large numbers of genetic markers but are not familiar with available methods to assess their association with complex diseases. Statistical methods have been developed for analyzing the relation between large numbers of genetic and environmental predictors to disease or disease-related variables in genetic association studies. In this commentary we discuss logistic regression analysis, neural networks, including the parameter decreasing method (PDM) and genetic programming optimized neural networks (GPNN) and several non-parametric methods, which include the set association approach, combinatorial partitioning method (CPM), restricted partitioning method (RPM), multifactor dimensionality reduction (MDR) method and the random forests approach. The relative strengths and weaknesses of these methods are highlighted. Logistic regression and neural networks can handle only a limited number of predictor variables, depending on the number of observations in the dataset. Therefore, they are less useful than the non-parametric methods to approach association studies with large numbers of predictor variables. GPNN on the other hand may be a useful approach to select and model important predictors, but its performance to select the important effects in the presence of large numbers of predictors needs to be examined. Both the set association approach and random forests approach are able to handle a large number of predictors and are useful in reducing these predictors to a subset of predictors with an important contribution to disease. The combinatorial methods give more insight in combination patterns for sets of genetic and/or environmental predictor variables that may be related to the outcome variable. As the non-parametric methods have different strengths and weaknesses we conclude that to approach genetic association studies using the case-control design, the application of a combination of several methods, including the set association approach, MDR and the random forests approach, will likely be a useful strategy to find the important genes and interaction patterns involved in complex diseases.

[Analytic methods for seed models with genotype x environment interactions].

PubMed

Zhu, J

1996-01-01

Genetic models with genotype effect (G) and genotype x environment interaction effect (GE) are proposed for analyzing generation means of seed quantitative traits in crops. The total genetic effect (G) is partitioned into seed direct genetic effect (G0), cytoplasm genetic of effect (C), and maternal plant genetic effect (Gm). Seed direct genetic effect (G0) can be further partitioned into direct additive (A) and direct dominance (D) genetic components. Maternal genetic effect (Gm) can also be partitioned into maternal additive (Am) and maternal dominance (Dm) genetic components. The total genotype x environment interaction effect (GE) can also be partitioned into direct genetic by environment interaction effect (G0E), cytoplasm genetic by environment interaction effect (CE), and maternal genetic by environment interaction effect (GmE). G0E can be partitioned into direct additive by environment interaction (AE) and direct dominance by environment interaction (DE) genetic components. GmE can also be partitioned into maternal additive by environment interaction (AmE) and maternal dominance by environment interaction (DmE) genetic components. Partitions of genetic components are listed for parent, F1, F2 and backcrosses. A set of parents, their reciprocal F1 and F2 seeds is applicable for efficient analysis of seed quantitative traits. MINQUE(0/1) method can be used for estimating variance and covariance components. Unbiased estimation for covariance components between two traits can also be obtained by the MINQUE(0/1) method. Random genetic effects in seed models are predictable by the Adjusted Unbiased Prediction (AUP) approach with MINQUE(0/1) method. The jackknife procedure is suggested for estimation of sampling variances of estimated variance and covariance components and of predicted genetic effects, which can be further used in a t-test for parameter. Unbiasedness and efficiency for estimating variance components and predicting genetic effects are tested by Monte Carlo simulations.

ELIXIR pilot action: Marine metagenomics - towards a domain specific set of sustainable services.

PubMed

Robertsen, Espen Mikal; Denise, Hubert; Mitchell, Alex; Finn, Robert D; Bongo, Lars Ailo; Willassen, Nils Peder

2017-01-01

Metagenomics, the study of genetic material recovered directly from environmental samples, has the potential to provide insight into the structure and function of heterogeneous microbial communities.  There has been an increased use of metagenomics to discover and understand the diverse biosynthetic capacities of marine microbes, thereby allowing them to be exploited for industrial, food, and health care products. This ELIXIR pilot action was motivated by the need to establish dedicated data resources and harmonized metagenomics pipelines for the marine domain, in order to enhance the exploration and exploitation of marine genetic resources. In this paper, we summarize some of the results from the ELIXIR pilot action "Marine metagenomics - towards user centric services".

"Bringing Taxonomy to the Service of Genetics": Edgar Anderson and Introgressive Hybridization.

PubMed

Kleinman, Kim

2016-12-01

In introgressive hybridization (the repeated backcrossing of hybrids with parental populations), Edgar Anderson found a source for variation upon which natural selection could work. In his 1953 review article "Introgressive Hybridization," he asserted that he was "bringing taxonomy to the service of genetics" whereas distinguished colleagues such as Theodosius Dobzhansky and Ernst Mayr did the precise opposite. His work as a geneticist particularly focused on linkage and recombination and was enriched by collaborations with Missouri Botanical Garden colleagues interested in taxonomy as well as with cytologists C.D. Darlington and Karl Sax. As the culmination of a biosystemtatic research program, Anderson's views challenged the mainstream of the Evolutionary Synthesis.

Genetic Algorithm for Initial Orbit Determination with Too Short Arc (Continued)

NASA Astrophysics Data System (ADS)

Li, X. R.; Wang, X.

2016-03-01

When using the genetic algorithm to solve the problem of too-short-arc (TSA) determination, due to the difference of computing processes between the genetic algorithm and classical method, the methods for outliers editing are no longer applicable. In the genetic algorithm, the robust estimation is acquired by means of using different loss functions in the fitness function, then the outlier problem of TSAs is solved. Compared with the classical method, the application of loss functions in the genetic algorithm is greatly simplified. Through the comparison of results of different loss functions, it is clear that the methods of least median square and least trimmed square can greatly improve the robustness of TSAs, and have a high breakdown point.

Registration of soybean germplasm line DB0638-70 with high yield potential and diverse genetic background

USDA-ARS?s Scientific Manuscript database

The release of soybean [Glycine max (L.) Merr.] germplasm line ‘DB0638-70’ is part of an effort to broaden the genetic base of soybean germplasm in North American soybean breeding programs. DB0638-70 was developed and released by the U.S. Department of Agriculture-Agricultural Research Service, Ston...

Improving the Health and Well-Being of Adults with Conditions of a Genetic Origin: "Views from Professionals, Syndrome Support Groups and Parents"

ERIC Educational Resources Information Center

Redley, Marcus; Pannebakker, Merel; Holland, Anthony

2018-01-01

Background: Advances in medical genetics herald the possibility that health and social care services could be more responsive to the needs arising from a person's genotype. This development may be particularly important for those men and women whose learning disability (known internationally as intellectual disability) is linked to a…

Effective Referral of Low-Income Women at Risk for Hereditary Breast and Ovarian Cancer to Genetic Counseling: A Randomized Delayed Intervention Control Trial.

PubMed

Pasick, Rena J; Joseph, Galen; Stewart, Susan; Kaplan, Celia; Lee, Robin; Luce, Judith; Davis, Sharon; Marquez, Titas; Nguyen, Tung; Guerra, Claudia

2016-10-01

To determine the effectiveness of a statewide telephone service in identifying low-income women at risk for hereditary breast and ovarian cancer and referring them to free genetic counseling. From June 2010 through August 2011, eligible callers to California's toll-free breast and cervical cancer telephone service were screened for their family histories of breast and ovarian cancer. High-risk women were identified and called for a baseline survey and randomization to an immediate offer of genetic counseling or a mailed brochure on how to obtain counseling. Clinic records were used to assess receipt of genetic counseling after 2 months. Among 1212 eligible callers, 709 (58.5%) agreed to answer family history questions; 102 (14%) were at high risk (25% Hispanic, 46% White, 10% Black, 16% Asian, 3% of other racial/ethnic backgrounds). Of the high-risk women offered an immediate appointment, 39% received counseling during the intervention period, as compared with 4.5% of those receiving the brochure. A public health approach to the rare but serious risk of hereditary breast and ovarian cancer can be successful when integrated into the efforts of existing safety net organizations.

The Effects of Predator Evolution and Genetic Variation on Predator-Prey Population-Level Dynamics.

PubMed

Cortez, Michael H; Patel, Swati

2017-07-01

This paper explores how predator evolution and the magnitude of predator genetic variation alter the population-level dynamics of predator-prey systems. We do this by analyzing a general eco-evolutionary predator-prey model using four methods: Method 1 identifies how eco-evolutionary feedbacks alter system stability in the fast and slow evolution limits; Method 2 identifies how the amount of standing predator genetic variation alters system stability; Method 3 identifies how the phase lags in predator-prey cycles depend on the amount of genetic variation; and Method 4 determines conditions for different cycle shapes in the fast and slow evolution limits using geometric singular perturbation theory. With these four methods, we identify the conditions under which predator evolution alters system stability and shapes of predator-prey cycles, and how those effect depend on the amount of genetic variation in the predator population. We discuss the advantages and disadvantages of each method and the relations between the four methods. This work shows how the four methods can be used in tandem to make general predictions about eco-evolutionary dynamics and feedbacks.

Socio-ethical analysis of equity in access to nutrigenomics interventions for obesity prevention: a focus group study.

PubMed

Lévesque, Lise; Ozdemir, Vural; Godard, Béatrice

2008-12-01

The goal of nutrigenomics is to develop nutritional interventions targeted to individual genetic make-up. Obesity is a prime candidate for nutrigenomics research. Personalized approaches to prevention of diseases associated with obesity may be available in the near future. Nevertheless, in the context of limited resources, access to a nutrigenomics personalized health service raises questions around equity. Using focus groups, the present qualitative research study provides empirical data on ethical concerns and values surrounding the nutrigenomics-guided personalized nutrition for obesity prevention. Eight focus groups were convened including 27 healthy individuals and 21 individuals who self-identified as obese or at risk of obesity. The transcripts of the focus group were analyzed according to the qualitative method of grounded theory. Responsibility, reciprocity, and solidarity emerged as the key ethical criteria perceived by the respondents to be significant in terms of how health professionals should determine access to personalized nutrition services. Still, exclusion of individuals from specific nutrigenomic services is likely to conflict with the imperatives of medical deontology and contemporary social consensus. The representation of equity in this paper is novel: it considers the intersection of nutrigenomics and personalized nutritional interventions specifically in the context of limited public resources for health services.

MetaRanker 2.0: a web server for prioritization of genetic variation data

PubMed Central

Pers, Tune H.; Dworzyński, Piotr; Thomas, Cecilia Engel; Lage, Kasper; Brunak, Søren

2013-01-01

MetaRanker 2.0 is a web server for prioritization of common and rare frequency genetic variation data. Based on heterogeneous data sets including genetic association data, protein–protein interactions, large-scale text-mining data, copy number variation data and gene expression experiments, MetaRanker 2.0 prioritizes the protein-coding part of the human genome to shortlist candidate genes for targeted follow-up studies. MetaRanker 2.0 is made freely available at www.cbs.dtu.dk/services/MetaRanker-2.0. PMID:23703204

MetaRanker 2.0: a web server for prioritization of genetic variation data.

PubMed

Pers, Tune H; Dworzyński, Piotr; Thomas, Cecilia Engel; Lage, Kasper; Brunak, Søren

2013-07-01

MetaRanker 2.0 is a web server for prioritization of common and rare frequency genetic variation data. Based on heterogeneous data sets including genetic association data, protein-protein interactions, large-scale text-mining data, copy number variation data and gene expression experiments, MetaRanker 2.0 prioritizes the protein-coding part of the human genome to shortlist candidate genes for targeted follow-up studies. MetaRanker 2.0 is made freely available at www.cbs.dtu.dk/services/MetaRanker-2.0.

[Methods of identification and assessment of safety of genetically modified microorganisms in manufacture food production].

PubMed

Khovaev, A A; Nesterenko, L N; Naroditskiĭ, B S

2011-01-01

Methods of identification of genetically modified microorganisms (GMM), used in manufacture food on control probes are presented. Results of microbiological and molecular and genetic analyses of food products and their components important in microbiological and genetic expert examination of GMM in foods are considered. Examination of biosafety of GMM are indicated.

Regeneration Methods Affect Genetic Variation and Structure in Shortleaf Pine (Pinus Echinata Mill.)

Treesearch

Rajiv G. Raja; Charles G. Tauer; Robert F. Wittwer; Yinghua Huang

1998-01-01

The effects of regene ration methods on genetic diversity and structure in shortleaf pine (Pinus echinata Mill.) were examined by quantifying the changes in genetic composition of shortleaf pine stands following harvest by monitoring changes in allele number and frequency at heterozygous loci over time. The results were also compared to the genetic...

Baculovirus expression system and method for high throughput expression of genetic material

DOEpatents

Clark, Robin; Davies, Anthony

2001-01-01

The present invention provides novel recombinant baculovirus expression systems for expressing foreign genetic material in a host cell. Such expression systems are readily adapted to an automated method for expression foreign genetic material in a high throughput manner. In other aspects, the present invention features a novel automated method for determining the function of foreign genetic material by transfecting the same into a host by way of the recombinant baculovirus expression systems according to the present invention.

Fine-mapping the MHC locus in juvenile idiopathic arthritis (JIA) reveals genetic heterogeneity corresponding to distinct adult inflammatory arthritic diseases

PubMed Central

Hinks, A; Cobb, J; Ainsworth, H C; Marion, M C; Comeau, M E; Sudman, M; Han, B; Becker, M L; Bohnsack, J F; de Bakker, P I W; Haas, J P; Hazen, M; Lovell, D J; Nigrovic, P A; Nordal, E; Punnaro, M; Rosenberg, A M; Rygg, M; Wise, C A; Videm, V; Wedderburn, L R; Yarwood, A; Yeung, R S M; Prahalad, S; Langefeld, C D; Raychaudhuri, S; Thompson, S D; Thomson, W

2017-01-01

Objectives Juvenile idiopathic arthritis (JIA) is a heterogeneous group of diseases, comprising seven categories. Genetic data could potentially be used to help redefine JIA categories and improve the current classification system. The human leucocyte antigen (HLA) region is strongly associated with JIA. Fine-mapping of the region was performed to look for similarities and differences in HLA associations between the JIA categories and define correspondences with adult inflammatory arthritides. Methods Dense genotype data from the HLA region, from the Immunochip array for 5043 JIA cases and 14 390 controls, were used to impute single-nucleotide polymorphisms, HLA classical alleles and amino acids. Bivariate analysis was performed to investigate genetic correlation between the JIA categories. Conditional analysis was used to identify additional effects within the region. Comparison of the findings with those in adult inflammatory arthritic diseases was performed. Results We identified category-specific associations and have demonstrated for the first time that rheumatoid factor (RF)-negative polyarticular JIA and oligoarticular JIA are genetically similar in their HLA associations. We also observe that each JIA category potentially has an adult counterpart. The RF-positive polyarthritis association at HLA-DRB1 amino acid at position 13 mirrors the association in adult seropositive rheumatoid arthritis (RA). Interestingly, the combined oligoarthritis and RF-negative polyarthritis dataset shares the same association with adult seronegative RA. Conclusions The findings suggest the value of using genetic data in helping to classify the categories of this heterogeneous disease. Mapping JIA categories to adult counterparts could enable shared knowledge of disease pathogenesis and aetiology and facilitate transition from paediatric to adult services. PMID:27998952

Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations.

PubMed

Nouri, Narges; Nouri, Nayereh; Tirgar, Samane; Soleimani, Elham; Yazdani, Vida; Zahedi, Farzaneh; Larijani, Bagher

2017-01-01

Consanguineous marriage, which is common in many regions in the world, has absorbed much attention as a causative factor in raising the incidence of genetic diseases. The adverse effects may be attributed to the expression of the genes received from common ancestors and mortality and morbidity of the offspring. Iran has a high rate of consanguineous marriages. In recent years genetic counseling has come to be considered in health care services. This cross-sectional study was conducted in order to determine the prevalence and types of consanguineous marriages in the genetic clinics in Isfahan. We aimed to define the different types of marriages, specific categories of genetic disorders associated with consanguineous marriages, and mode of inheritance in the family tree. We also narratively reviewed the ethical aspects of the issue. The data were collected using a simple questionnaire. A total number of 1535 couples from urban and rural areas formed the study population. The marriages were classified according to the degree of the relationship between couples, including: double cousin, first cousin, first cousin once removed, second cousin and beyond second cousin. The SPSS software version 16 was used for data analysis. Data obtained through genetic counseling offered during a 5-year period revealed that 74.3% had consanguineous relationships, 62.3% were first cousins, 1% were double cousins and 7.8% were second cousins. In addition, 76% of the couples had at least one genetic disease in their family tree. Related ethical issues were also considered in this study, including autonomy and informed decision making, benefit and harm assessment, confidentiality, ethics in research, justice in access to counseling services, financial problems ethics, and the intellectual property of scientific success.

Consanguineous marriages in the genetic counseling centers of Isfahan and the ethical issues of clinical consultations

PubMed Central

Nouri, Narges; Nouri, Nayereh; Tirgar, Samane; Soleimani, Elham; Yazdani, Vida; Zahedi, Farzaneh; Larijani, Bagher

2017-01-01

Consanguineous marriage, which is common in many regions in the world, has absorbed much attention as a causative factor in raising the incidence of genetic diseases. The adverse effects may be attributed to the expression of the genes received from common ancestors and mortality and morbidity of the offspring. Iran has a high rate of consanguineous marriages. In recent years genetic counseling has come to be considered in health care services. This cross-sectional study was conducted in order to determine the prevalence and types of consanguineous marriages in the genetic clinics in Isfahan. We aimed to define the different types of marriages, specific categories of genetic disorders associated with consanguineous marriages, and mode of inheritance in the family tree. We also narratively reviewed the ethical aspects of the issue. The data were collected using a simple questionnaire. A total number of 1535 couples from urban and rural areas formed the study population. The marriages were classified according to the degree of the relationship between couples, including: double cousin, first cousin, first cousin once removed, second cousin and beyond second cousin. The SPSS software version 16 was used for data analysis. Data obtained through genetic counseling offered during a 5-year period revealed that 74.3% had consanguineous relationships, 62.3% were first cousins, 1% were double cousins and 7.8% were second cousins. In addition, 76% of the couples had at least one genetic disease in their family tree. Related ethical issues were also considered in this study, including autonomy and informed decision making, benefit and harm assessment, confidentiality, ethics in research, justice in access to counseling services, financial problems ethics, and the intellectual property of scientific success. PMID:29416832

Validation of Version 3.0 of the Breast Cancer Genetics Referral Screening Tool (B-RST™).

PubMed

Bellcross, Cecelia; Hermstad, April; Tallo, Christine; Stanislaw, Christine

2018-05-08

Despite increased awareness of hereditary breast and ovarian cancer among clinicians and the public, many BRCA1/2 mutation carriers remain unaware of their risk status. The Breast Cancer Genetics Referral Screening Tool (B-RST™) was created and validated to easily identify individuals at increased risk for hereditary breast and ovarian cancer for referral to cancer genetics services. The purpose of this study was to revise B-RST™ to maximize sensitivity against BRCA1/2 mutation status. We analyzed pedigrees of 277 individuals who had undergone BRCA1/2 testing to determine modifications to the B-RST™ 2.0 algorithm that would maximize sensitivity for mutations, while maintaining simplicity. We used McNemar's chi-square test to compare validation measures between the revised version (3.0) and the 2.0 version. Algorithmic changes made to B-RST™ 2.0 increased the sensitivity against BRCA1/2 mutation analysis from 71.1 to 94.0% (P < 0.0001). While specificity decreased, all screen-positive individuals were appropriate for cancer genetics referral, the primary purpose of the tool. Despite calls for BRCA1/2 population screening, there remains a critical need to identify those most at risk who should receive cancer genetics services. B-RST™ version 3.0 demonstrates high sensitivity for BRCA1/2 mutations, yet remains a simple and quick screening tool for at-risk individuals.

Genetic Test Results and Disclosure to Family Members: Qualitative Interviews of Healthcare Professionals' Perceptions of Ethical and Professional Issues in France.

PubMed

D' Audiffret Van Haecke, Diane; de Montgolfier, Sandrine

2016-06-01

The benefit of disclosing test results to next of kin is to improve prognosis and-in some cases-even prevent death though earlier monitoring or preventive therapies. Research on this subject has explored the question of intra-familial communication from the standpoint of patients and relatives but rarely, from the standpoint of healthcare professionals. The purpose of this study was to interview relevant healthcare professionals in France, where legislation framing the issue was recently passed. A qualitative study consisting of semi-structured interviews was set up to get a clearer picture of the challenges arising from this issue, its consequences in terms of medical care-service practices, and the positions that frontline professionals have taken in response to this new legal framework. The findings from eight interviews with 7 clinical geneticists and 1 genetic counselor highlight very different patterns of practices among care services and among the genetic diseases involved. It is equally crucial to investigate other issues such as the nature of genetic testing and its consequences in terms of disclosing results to kin, the question of the role of genetic counseling in the disclosure process, the question of prescription by non-geneticist clinicians, and practical questions linked to information content, consent and medical follow-up for patients and their relatives.

42 CFR 51a.2 - Definitions.

Code of Federal Regulations, 2013 CFR

2013-10-01

... 42 Public Health 1 2013-10-01 2013-10-01 false Definitions. 51a.2 Section 51a.2 Public Health PUBLIC HEALTH SERVICE, DEPARTMENT OF HEALTH AND HUMAN SERVICES GRANTS PROJECT GRANTS FOR MATERNAL AND CHILD HEALTH § 51a.2 Definitions. Act means the Social Security Act, as amended. Genetic diseases means...

42 CFR 51a.2 - Definitions.

Code of Federal Regulations, 2011 CFR

2011-10-01

... 42 Public Health 1 2011-10-01 2011-10-01 false Definitions. 51a.2 Section 51a.2 Public Health PUBLIC HEALTH SERVICE, DEPARTMENT OF HEALTH AND HUMAN SERVICES GRANTS PROJECT GRANTS FOR MATERNAL AND CHILD HEALTH § 51a.2 Definitions. Act means the Social Security Act, as amended. Genetic diseases means...

42 CFR 51a.2 - Definitions.

Code of Federal Regulations, 2012 CFR

2012-10-01

... 42 Public Health 1 2012-10-01 2012-10-01 false Definitions. 51a.2 Section 51a.2 Public Health PUBLIC HEALTH SERVICE, DEPARTMENT OF HEALTH AND HUMAN SERVICES GRANTS PROJECT GRANTS FOR MATERNAL AND CHILD HEALTH § 51a.2 Definitions. Act means the Social Security Act, as amended. Genetic diseases means...

42 CFR 51a.2 - Definitions.

Code of Federal Regulations, 2014 CFR

2014-10-01

... 42 Public Health 1 2014-10-01 2014-10-01 false Definitions. 51a.2 Section 51a.2 Public Health PUBLIC HEALTH SERVICE, DEPARTMENT OF HEALTH AND HUMAN SERVICES GRANTS PROJECT GRANTS FOR MATERNAL AND CHILD HEALTH § 51a.2 Definitions. Act means the Social Security Act, as amended. Genetic diseases means...

Ethical Issues in Health Services: A Report and Annotated Bibliography.

ERIC Educational Resources Information Center

Carmody, James

This publication identifies, discusses, and lists areas for further research for five ethical issues related to health services: 1) the right to health care; 2) death and euthanasia; 3) human experimentation; 4) genetic engineering; and, 5) abortion. Following a discussion of each issue is a selected annotated bibliography covering the years 1967…

Sociodemographic Disparities in Intervention Service Utilization in Families of Children with Autism Spectrum Disorder

ERIC Educational Resources Information Center

Nguyen, Cathina T.; Krakowiak, Paula; Hansen, Robin; Hertz-Picciotto, Irva; Angkustsiri, Kathleen

2016-01-01

This study investigates whether sociodemographic factors are associated with utilization of intervention services for children with autism spectrum disorder (ASD) enrolled in the Childhood Autism Risks from Genetics and the Environment Study. Maternal ethnicity, insurance status, and education for 696 families of children with ASD were available.…

Molecular testing for cystic fibrosis carrier status practice guidelines: recommendations of the National Society of Genetic Counselors.

PubMed

Langfelder-Schwind, Elinor; Karczeski, Barbara; Strecker, Michelle N; Redman, Joy; Sugarman, Elaine A; Zaleski, Christina; Brown, Trisha; Keiles, Steven; Powers, Amy; Ghate, Sumheda; Darrah, Rebecca

2014-02-01

To provide practice recommendations for genetic counselors whose clients are considering cystic fibrosis (CF) carrier testing or seeking information regarding CF molecular test results. The goals of these recommendations are to: 1) Provide updated information about the natural history, diagnosis, and treatment of CF and related conditions. 2) Supplement genetic counselors' knowledge and understanding of the available carrier screening and diagnostic testing options. 3) Describe the current state of genotype/phenotype correlations for CFTR mutations and an approach to interpreting both novel and previously described variants. 4) Provide a framework for genetic counselors to assist clients' decision-making regarding CF carrier testing, prenatal diagnosis, and pregnancy management. Disclaimer The practice guidelines of the National Society of Genetic Counselors (NSGC) are developed by members of the NSGC to assist genetic counselors and other health care providers in making decisions about appropriate management of genetic concerns; including access to and/or delivery of services. Each practice guideline focuses on a clinical or practice-based issue, and is the result of a review and analysis of current professional literature believed to be reliable. As such, information and recommendations within the NSGC practice guidelines reflect the current scientific and clinical knowledge at the time of publication, are only current as of their publication date, and are subject to change without notice as advances emerge.In addition, variations in practice, which take into account the needs of the individual patient and the resources and limitations unique to the institution or type of practice, may warrant approaches, treatments and/or procedures that differ from the recommendations outlined in this guideline. Therefore, these recommendations should not be construed as dictating an exclusive course of management, nor does the use of such recommendations guarantee a particular outcome. Genetic counseling practice guidelines are never intended to displace a health care provider's best medical judgment based on the clinical circumstances of a particular patient or patient population.Practice guidelines are published by NSGC for educational and informational purposes only, and NSGC does not "approve" or "endorse" any specific methods, practices, or sources of information.

Genetic Testing for Rare Cancer: The Wider Issues.

PubMed

Jacobs, Chris; Pichert, Gabriella

2016-01-01

Identification of a potential genetic susceptibility to cancer and confirmation of a pathogenic gene mutation raises a number of challenging issues for the patient with cancer, their relatives and the health professionals caring for them. The specific risks and management issues associated with rare cancer types have been addressed in the earlier chapters. This chapter considers the wider issues involved in genetic counselling and genetic testing for a genetic susceptibility to cancer for patients, families and health professionals. The first part of the chapter will present the issues raised by the current practice in genetic counselling and genetic testing for cancer susceptibility. The second part of the chapter will address some of the issues raised by the advances in genetic testing technology and the future opportunities provided by personalised medicine and targeted cancer therapy. Facilitating these developments requires closer integration of genomics into mainstream cancer care, challenging the existing paradigm of genetic medicine, adding additional layers of complexity to the risk assessment and management of cancer and presenting wider issues for patients, families, health professionals and clinical services.

Genetic Cancer Risk Assessment for Breast Cancer in Latin America

PubMed Central

Chavarri-Guerra, Yanin; Blazer, Kathleen Reilly; Weitzel, Jeffrey Nelson

2017-01-01

In Latin America, breast cancer is the most common malignancy in women, and limited available data suggest that up to 15% of all breast cancer cases in the region are hereditary. Genetic cancer risk assessment and counseling is a critical component of the appropriate clinical care of patients with hereditary breast cancer and their families. Unfortunately, genetic services are underdeveloped across Latin America, and access to genetic testing and counseling is very scarce in the region. Barriers contributing to the access to genetic care are high cost and lack of insurance coverage for genetic tests, insufficient oncogenetics training or expertise, nonexistence of genetic counseling as a clinical discipline and lack of supportive healthcare policies. In this review, we highlight relevant initiatives undertaken in several Latin American countries aimed at creating genetic cancer risk assessment programs. Additionally, we present a review of the scientific literature on the current status of breast cancer genomics in Latin America, with specific emphasis on demographic indicators, access to cancer genetic care, training and strategies to improve outcomes and international collaborations. PMID:28453507

A definition of unknown parent groups based on bull usage patterns across herds.

PubMed

Bouquet, A; Renand, G; Phocas, F

2011-03-01

In genetic evaluations, the definition of unknown parent groups (UPG) is usually based on time periods, selection path and flows of foreign founders. The definition of UPG may be more complex for populations presenting genetic heterogeneity due to both, large national expansion and coexistence of artificial insemination (AI) and natural service (NS). A UPG definition method accounting for beef bull flows was proposed and applied to the French Charolais cattle population. It assumed that, at a given time period, unknown parents belonged to the same UPG when their progeny were bred in herds that used bulls with similar origins (birth region and reproduction way). Thus, the birth period, region and AI rate of a herd were pointed out to be the three criteria reflecting genetic disparities at the national level in a beef cattle population. To deal with regional genetic disparities, 14 regions were identified using a factorial approach combining principal component analysis and Ward clustering. The selection nucleus of the French cattle population was dispersed over three main breeding areas. Flows of NS bulls were mainly carried out within each breeding area. On the contrary, the use and the selection of AI bulls were based on a national pool of candidates. Within a time period, herds of different regions were clustered together when they used bulls coming from the same origin and with an estimated difference of genetic level lower than 20% of genetic standard deviation (σg) for calf muscle and skeleton scores (SS) at weaning. This led to the definition of 16 UPG of sires, which were validated as robust and relevant in a sire model, meaning numerically stable and corresponding to distinct genetic subpopulations. The UPG genetic levels were estimated for muscle and SS under sire and animal models. Whatever the trait, differences between bull UPG estimates within a time period could reach 0.5 σg across regions. For a given time period, bull UPG estimates for muscle and SS were generally larger by 0.30 to 0.75 σg than those of cows. Including genetic groups in the evaluation model increased the estimated genetic trends by 20% to 30%. It also provoked re-ranking in favor of bulls and cows without pedigree.

RECONCEPTUALIZING CONSENT FOR DIRECT-TO-CONSUMER HEALTH SERVICES.

PubMed

Spector-Bagdady, Kayte

2015-01-01

The market for direct-to-consumer (DTC) health services continues to grow rapidly with former patients converting to customers for the opportunity to purchase varied diagnostic tests without the involvement of their clinician. For the first time a DTC genetic testing company is advertising health-related reports "that meet [Food and Drug Administration] standards for being clinically and scientifically valid." Ethicists and regulatory agencies alike have recognized the need for a more informed transaction in the DTC context, but how should we classify a commercial transaction for something normally protected by a duty of care? How can we assure informed agreements in an industry with terms and conditions as varied as the services performed? The doctrine of "informed consent" began as an ethical construct building on the promise of beneficence in the clinical relationship and elevating the principle of autonomy--but in the DTC context should we hold providers to legal standards of informed consent and associated medical malpractice liability, or contractual obligations where consumers would seek remedy for breach? This Article analyzes the fine balance that must be struck in an industry where companies are selling services for entertainment or non-medical purposes that possess the capacity to produce serious and disquieting medical information. It begins by reviewing current standards of consent in the clinical setting from both a legal and ethical perspective and then lays forth current standards for DTC consent using two currently controversial case studies: that of keepsake fetal ultrasound and genetic testing. DTC keepsake ultrasound and genetic testing providers attempt to de-medicalize the devices used for these procedures from their intended medical uses to non-medical uses. But while keepsake ultrasound is marketed as "intended for entertainment purposes only," it can provide medical information as an incidental finding. 23andMe currently purports to be the only DTC genetics service that "includes" reports that meet FDA qualifications, despite disclaimers of intent to "provide medical advice." The attempted de-medicalization of these devices, therefore, has not been fully transformative, and DTC providers should have more robust ethical and legal duties than the average goods and services seller. This Article delineates these responsibilities, beginning with ethical duties surrounding marketing, entering into, and providing DTC services. It then turns to the legal paradigms necessary to enable, or at least allow for, DTC providers to meet these ethical obligations. While it argues that contractual, as opposed to fiduciary, requirements are most appropriate and that waivers of liability will likely be upheld, it also advocates for a heightened expectation of disclosure during contracting.

Distributed genetic algorithms for the floorplan design problem

NASA Technical Reports Server (NTRS)

Cohoon, James P.; Hegde, Shailesh U.; Martin, Worthy N.; Richards, Dana S.

1991-01-01

Designing a VLSI floorplan calls for arranging a given set of modules in the plane to minimize the weighted sum of area and wire-length measures. A method of solving the floorplan design problem using distributed genetic algorithms is presented. Distributed genetic algorithms, based on the paleontological theory of punctuated equilibria, offer a conceptual modification to the traditional genetic algorithms. Experimental results on several problem instances demonstrate the efficacy of this method and indicate the advantages of this method over other methods, such as simulated annealing. The method has performed better than the simulated annealing approach, both in terms of the average cost of the solutions found and the best-found solution, in almost all the problem instances tried.

GMDD: a database of GMO detection methods.

PubMed

Dong, Wei; Yang, Litao; Shen, Kailin; Kim, Banghyun; Kleter, Gijs A; Marvin, Hans J P; Guo, Rong; Liang, Wanqi; Zhang, Dabing

2008-06-04

Since more than one hundred events of genetically modified organisms (GMOs) have been developed and approved for commercialization in global area, the GMO analysis methods are essential for the enforcement of GMO labelling regulations. Protein and nucleic acid-based detection techniques have been developed and utilized for GMOs identification and quantification. However, the information for harmonization and standardization of GMO analysis methods at global level is needed. GMO Detection method Database (GMDD) has collected almost all the previous developed and reported GMOs detection methods, which have been grouped by different strategies (screen-, gene-, construct-, and event-specific), and also provide a user-friendly search service of the detection methods by GMO event name, exogenous gene, or protein information, etc. In this database, users can obtain the sequences of exogenous integration, which will facilitate PCR primers and probes design. Also the information on endogenous genes, certified reference materials, reference molecules, and the validation status of developed methods is included in this database. Furthermore, registered users can also submit new detection methods and sequences to this database, and the newly submitted information will be released soon after being checked. GMDD contains comprehensive information of GMO detection methods. The database will make the GMOs analysis much easier.

Protecting genetic materials and genetic information: a case study of Guthrie Cards in Victoria.

PubMed

Lawson, C; Smith, R

2001-11-01

The authors are privileged to have been provided with correspondence about a dispute over the ongoing storage of genetic material (as Guthrie Cards) in Victoria. The correspondence details confusion over the roles of government and the private sector service provider in accounting for the storage, use and destruction of these stored genetic materials collected as part of a government public health program. The purpose in publishing this account is to highlight the present inadequacies in current practices and the ongoing potential for a crisis in the management of collected genetic materials through a lack of appropriate regulation, transparency and accountability. The article suggests measures to remedy some of the existing inadequacies in contractual arrangements and recommends that the government retain ownership and control of both the genetic materials and the derived information to ensure some accountability in the present legal environment.

The medical genetics workforce: an analysis of clinical geneticist subgroups.

PubMed

Cooksey, Judith A; Forte, Gaetano; Flanagan, Patricia A; Benkendorf, Judith; Blitzer, Miriam G

2006-10-01

Clinical geneticists with a Doctor of Medicine degree face challenges to meet the growing population demand for genetic services. This study was designed to assist the profession with workforce planning by identifying clinically relevant subgroups of geneticists and describing their professional characteristics and clinical practices. Geneticists' patient care productivity is compared across subgroups and other medical specialists. Part of a comprehensive national study of genetic services and the health workforce, this study uses data from a 2003 survey of geneticists certified by the American Board of Medical Genetics. This study includes 610 clinical geneticists who spend at least 5% of their time in direct patient-care services. An iterative approach was used to identify five subgroups based on the types of new patients seen. We conducted a descriptive analysis of subgroups by demographic, training, professional, and practice characteristics. The subgroups include general (36%), pediatric (28%), reproductive (15%), metabolic (14%), and adult (7%) geneticists. Clinically relevant variations across subgroups were noted in training, professional, and practice parameters. Subgroups vary across patient care hours (median, 15-33 hours/week) and total weekly work hours (52-60 hours). New patient visits (mean, 222-900/year) are higher than follow-up patient visits (mean, 155-405) for all subgroups except metabolic geneticists. Although many geneticists practice as generalist geneticists, this study provides an evidence base for distinguishing clinically relevant subgroups of geneticists. Geneticists provide similar numbers of new patient visits and far fewer follow-up visits than other medical specialists. These findings are relevant to geneticist workforce planning.

Development and Implementation of a Pharmacist-Managed Clinical Pharmacogenetics Service

PubMed Central

Crews, Kristine R.; Cross, Shane J.; McCormick, John N.; Baker, Donald K.; Molinelli, Alejandro R.; Mullins, Richard; Relling, Mary V.; Hoffman, James M.

2011-01-01

Purpose The development and implementation of a pharmacist-managed Clinical Pharmacogenetics service is described. Summary Therapeutic drug monitoring (TDM) is a well-accepted role of the pharmacist. Pharmacogenetics, the study of genetic factors that influence the variability in drug response among patients, is a rapidly evolving discipline that integrates knowledge of pharmacokinetics and pharmacodynamics with modern advances in genetic testing. There is growing evidence for the clinical utility of pharmacogenetics, and pharmacists can play an essential role in the thoughtful application of pharmacogenetics to patient care. A pharmacist-managed Clinical Pharmacogenetics service was designed and implemented. The goal of the service is to provide clinical pharmacogenetic testing for gene products important to the pharmacodynamics of medications used in our patients. The service is modeled after and integrated with an already established Clinical Pharmacokinetics service. All clinical pharmacogenetic test results are first reported to one of the pharmacists, who reviews the result and provides a written consult. The consult includes an interpretation of the result and recommendations for any indicated changes to therapy. In 2009, 136 clinical pharmacogenetic tests were performed, consisting of 66 TPMT tests, 65 CYP2D6 tests, and 5 UGT1A1 tests. Our service has been met with positive clinician feedback. Conclusion Our experience demonstrates the feasibility of the design and function of a pharmacist-managed Clinical Pharmacogenetics service at an academic specialty hospital. The successful implementation of this service highlights the leadership role that pharmacists can take in moving pharmacogenetics from research to patient care, thereby potentially improving patient outcomes. PMID:21200062

[Genetic diseases in pediatric patients hospitalised in the town of Ubaté, Colombia].

PubMed

Páez, Paola; Suárez-Obando, Fernando; Zarante, Ignacio

2008-01-01

Describing genetic disease frequency in a second-level hospital's in-patient paediatric service The hospital's statistical department's records for 2005 were comprehensively reviewed; the study was carried out in the town of Ubaté during 2006. Complex diseases led to nearly 25% of all hospitalisations, including multifactor diseases and congenital malformations. However, an aetiological study and/or geneticist consultation or referral took place on a few occasions. Primary care hospitals should become more relevant reference centres for detecting genetic diseases amongst the paediatric population. New mechanisms are needed for implementing this to allow patients access to a geneticist and for an aetiological diagnosis to be made and providing suitable genetic counselling.

Thin and fat cows, and the nonlinear genetic relationship between body condition score and fertility.

PubMed

Tiezzi, F; Maltecca, C; Cecchinato, A; Penasa, M; Bittante, G

2013-10-01

Thin and fat cows are often credited for low fertility, but body condition score (BCS) has been traditionally treated as a linear trait when genetic correlations with reproductive performance have been estimated. The aims of this study were to assess genetic parameters for fertility, production, and body condition traits in the Brown Swiss population reared in the Alps (Bolzano-Bozen Province, Italy), and to investigate the possible nonlinearity among BCS and other traits by analyzing fat and thin cows. Records of BCS measured on a 5-point scale were preadjusted for year-season and days in milk at scoring, and were considered positive (1) for fat cows if they exceeded the value of 1 residual standard deviation or null (0) otherwise, whereas positive values for thin cows were imputed to records below -1 residual standard deviation. Fertility indicators measured on first- and second-parity cows were interval from parturition to first service, interval from first service to conception, interval from parturition to conception, number of inseminations to conception, conception at first service, and nonreturn rate at 56 d after first service. Production traits were peak milk yield, lactation milk yield, and lactation length. Data were from 1,413 herds and included 16,324 records of BCS, fertility, and production for first-parity, and 10,086 fertility records for second-parity cows. Animals calved from 2002 to 2007 and were progeny of 420 artificial insemination bulls. Genetic parameters for the aforementioned traits were obtained under univariate and bivariate threshold and censored linear sire models implemented in a Bayesian framework. Posterior means of heritabilities for BCS, fat cows, and thin cows were 0.141, 0.122, and 0.115, respectively. Genetic correlations of body condition traits with contemporary production were moderate to high and were between -0.556 and 0.623. Body condition score was moderately related to fertility in first (-0.280 to 0.497) and second (-0.392 to 0.248) lactation. The fat cow trait was scarcely related to fertility, particularly in first-parity cows (-0.203 to 0.281). Finally, the genetic relationships between thin cows and fertility were higher than those between BCS and fertility, both in first (-0.456 to 0.431) and second (-0.335 to 0.524) lactation. Body condition score can be considered a predictor of fertility, and it could be included in evaluation either as linear measure or as thin cow. In the second case, the genetic relationship with fertility was stronger, exacerbating the poorest body condition and considering the possible nonlinearity between fertility and energy reserves of the cow. Copyright © 2013 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

Genetic potential of common bean progenies obtained by different breeding methods evaluated in various environments.

PubMed

Pontes Júnior, V A; Melo, P G S; Pereira, H S; Melo, L C

2016-09-02

Grain yield is strongly influenced by the environment, has polygenic and complex inheritance, and is a key trait in the selection and recommendation of cultivars. Breeding programs should efficiently explore the genetic variability resulting from crosses by selecting the most appropriate method for breeding in segregating populations. The goal of this study was to evaluate and compare the genetic potential of common bean progenies of carioca grain for grain yield, obtained by different breeding methods and evaluated in different environments. Progenies originating from crosses between lines and CNFC 7812 and CNFC 7829 were replanted up to the F 7 generation using three breeding methods in segregating populations: population (bulk), bulk within F 2 progenies, and single-seed descent (SSD). Fifteen F 8 progenies per method, two controls (BRS Estilo and Perola), and the parents were evaluated in a 7 x 7 simple lattice design, with plots of two 4-m rows. The tests were conducted in 10 environments in four States of Brazil and in three growing seasons in 2009 and 2010. Genetic parameters including genetic variance, heritability, variance of interaction, and expected selection gain were estimated. Genetic variability among progenies and the effect of progeny-environment interactions were determined for the three methods. The breeding methods differed significantly due to the effects of sampling procedures on the progenies and due to natural selection, which mainly affected the bulk method. The SSD and bulk methods provided populations with better estimates of genetic parameters and more stable progenies that were less affected by interaction with the environment.

Genetic network inference as a series of discrimination tasks.

PubMed

Kimura, Shuhei; Nakayama, Satoshi; Hatakeyama, Mariko

2009-04-01

Genetic network inference methods based on sets of differential equations generally require a great deal of time, as the equations must be solved many times. To reduce the computational cost, researchers have proposed other methods for inferring genetic networks by solving sets of differential equations only a few times, or even without solving them at all. When we try to obtain reasonable network models using these methods, however, we must estimate the time derivatives of the gene expression levels with great precision. In this study, we propose a new method to overcome the drawbacks of inference methods based on sets of differential equations. Our method infers genetic networks by obtaining classifiers capable of predicting the signs of the derivatives of the gene expression levels. For this purpose, we defined a genetic network inference problem as a series of discrimination tasks, then solved the defined series of discrimination tasks with a linear programming machine. Our experimental results demonstrated that the proposed method is capable of correctly inferring genetic networks, and doing so more than 500 times faster than the other inference methods based on sets of differential equations. Next, we applied our method to actual expression data of the bacterial SOS DNA repair system. And finally, we demonstrated that our approach relates to the inference method based on the S-system model. Though our method provides no estimation of the kinetic parameters, it should be useful for researchers interested only in the network structure of a target system. Supplementary data are available at Bioinformatics online.

Genetic stock identification of Russian honey bees.

PubMed

Bourgeois, Lelania; Sheppard, Walter S; Sylvester, H Allen; Rinderer, Thomas E

2010-06-01

A genetic stock certification assay was developed to distinguish Russian honey bees from other European (Apis mellifera L.) stocks that are commercially produced in the United States. In total, 11 microsatellite and five single-nucleotide polymorphism loci were used. Loci were selected for relatively high levels of homogeneity within each group and for differences in allele frequencies between groups. A baseline sample consisted of the 18 lines of Russian honey bees released to the Russian Bee Breeders Association and bees from 34 queen breeders representing commercially produced European honey bee stocks. Suitability tests of the baseline sample pool showed high levels of accuracy. The probability of correct assignment was 94.2% for non-Russian bees and 93.3% for Russian bees. A neighbor-joining phenogram representing genetic distance data showed clear distinction of Russian and non-Russian honey bee stocks. Furthermore, a test of appropriate sample size showed a sample of eight bees per colony maximizes accuracy and consistency of the results. An additional 34 samples were tested as blind samples (origin unknown to those collecting data) to determine accuracy of individual assignment tests. Only one of these samples was incorrectly assigned. The 18 current breeding lines were represented among the 2009 blind sampling, demonstrating temporal stability of the genetic stock identification assay. The certification assay will be used through services provided by a service laboratory, by the Russian Bee Breeders Association to genetically certify their stock. The genetic certification will be used in conjunction with continued selection for favorable traits, such as honey production and varroa and tracheal mite resistance.

Measuring Awareness and Identifying Misconceptions About Genetic Counseling Services and Utilizing Television to Educate

NASA Astrophysics Data System (ADS)

Goldberg, Dena

Understanding awareness and perceptions of genetic counseling (GC) is important in identifying and overcoming potential barriers to GC services. However, there are relatively few empirical data regarding these factors among US-based populations. To address this, we attended various community events for the general public, disability community, and new parents and recruited participants for a survey-based study comprising demographic questions, closed-ended knowledge-based and awareness questions, and open text sections. We applied descriptive statistics to responses about demographics, awareness of GC, purposes of GC, and perceptions of GC practice. In total, 320 individuals participated, including 69 from the general public, 209 from the disability community, and 42 from the new parent community. Slightly more than half of respondents (n =173, 54%) had heard of GC. Risk assessment and counseling were among the most frequently cited activities attributed to genetic counselors; a few felt that GC was related to eugenics. Respondents thought that GC aims to prevent genetic disorders (n=82, 74%), helps people find their ethnic origins and understand their ancestry (n=176, 55%), advises people whether to have children (n=140, 44%), and helps couples have children with desirable characteristics (n=126, 39%). Our data showed the majority of participants preferred to watch a medical thriller involving genetic counseling, followed by documentary series; comedy was rated the lowest. These data revealed gaps in awareness of GC and misperceptions about its purpose and can be useful in devising targeted interventions by developing entertainment-based education to improve public knowledge of genetic health and the roles of GCs.

Prevalence and healthcare actions of women in a large health system with a family history meeting the 2005 USPSTF recommendation for BRCA genetic counseling referral.

PubMed

Bellcross, Cecelia A; Leadbetter, Steven; Alford, Sharon Hensley; Peipins, Lucy A

2013-04-01

In 2005, the United States Preventive Services Task Force (USPSTF) released guidelines which outlined specific family history patterns associated with an increased risk for BRCA1/2 mutations, and recommended at-risk individuals be referred for genetic counseling and evaluation for BRCA testing. The purpose of this study was to assess the prevalence of individuals with a USPSTF increased-risk family history pattern, the frequency with which specific patterns were met, and resulting healthcare actions among women from the Henry Ford Health System. As part of a study evaluating ovarian cancer risk perception and screening, 2,524 randomly selected participants completed a detailed interview (response rate 76%) from an initial eligible cohort of 16,720 women. Approximately 6% of participants had a family history fulfilling one or more of the USPSTF patterns. Although 90% of these women had shared their family history with their provider, less than 20% had been referred for genetic counseling and only 8% had undergone genetic testing. Caucasian women with higher income and education levels were more likely to receive referrals. Among the 95 participants in the total study cohort who reported BRCA testing, 78% did not have a family history that met one of the USPSTF patterns. These results suggest a higher prevalence of women with an increased-risk family history than originally predicted by the USPSTF, and lack of provider recognition and referral for genetic services. Improvements in healthcare infrastructure and clinician education will be required to realize population level benefits from BRCA genetic counseling and testing.

The prospects of selection for social genetic effects to improve welfare and productivity in livestock

PubMed Central

Ellen, Esther D.; Rodenburg, T. Bas; Albers, Gerard A. A.; Bolhuis, J. Elizabeth; Camerlink, Irene; Duijvesteijn, Naomi; Knol, Egbert F.; Muir, William M.; Peeters, Katrijn; Reimert, Inonge; Sell-Kubiak, Ewa; van Arendonk, Johan A. M.; Visscher, Jeroen; Bijma, Piter

2014-01-01

Social interactions between individuals living in a group can have both positive and negative effects on welfare, productivity, and health of these individuals. Negative effects of social interactions in livestock are easier to observe than positive effects. For example, laying hens may develop feather pecking, which can cause mortality due to cannibalism, and pigs may develop tail biting or excessive aggression. Several studies have shown that social interactions affect the genetic variation in a trait. Genetic improvement of socially-affected traits, however, has proven to be difficult until relatively recently. The use of classical selection methods, like individual selection, may result in selection responses opposite to expected, because these methods neglect the effect of an individual on its group mates (social genetic effects). It has become clear that improvement of socially-affected traits requires selection methods that take into account not only the direct effect of an individual on its own phenotype but also the social genetic effects, also known as indirect genetic effects, of an individual on the phenotypes of its group mates. Here, we review the theoretical and empirical work on social genetic effects, with a focus on livestock. First, we present the theory of social genetic effects. Subsequently, we evaluate the evidence for social genetic effects in livestock and other species, by reviewing estimates of genetic parameters for direct and social genetic effects. Then we describe the results of different selection experiments. Finally, we discuss issues concerning the implementation of social genetic effects in livestock breeding programs. This review demonstrates that selection for socially-affected traits, using methods that target both the direct and social genetic effects, is a promising, but sometimes difficult to use in practice, tool to simultaneously improve production and welfare in livestock. PMID:25426136

The prospects of selection for social genetic effects to improve welfare and productivity in livestock.

PubMed

Ellen, Esther D; Rodenburg, T Bas; Albers, Gerard A A; Bolhuis, J Elizabeth; Camerlink, Irene; Duijvesteijn, Naomi; Knol, Egbert F; Muir, William M; Peeters, Katrijn; Reimert, Inonge; Sell-Kubiak, Ewa; van Arendonk, Johan A M; Visscher, Jeroen; Bijma, Piter

2014-01-01

Social interactions between individuals living in a group can have both positive and negative effects on welfare, productivity, and health of these individuals. Negative effects of social interactions in livestock are easier to observe than positive effects. For example, laying hens may develop feather pecking, which can cause mortality due to cannibalism, and pigs may develop tail biting or excessive aggression. Several studies have shown that social interactions affect the genetic variation in a trait. Genetic improvement of socially-affected traits, however, has proven to be difficult until relatively recently. The use of classical selection methods, like individual selection, may result in selection responses opposite to expected, because these methods neglect the effect of an individual on its group mates (social genetic effects). It has become clear that improvement of socially-affected traits requires selection methods that take into account not only the direct effect of an individual on its own phenotype but also the social genetic effects, also known as indirect genetic effects, of an individual on the phenotypes of its group mates. Here, we review the theoretical and empirical work on social genetic effects, with a focus on livestock. First, we present the theory of social genetic effects. Subsequently, we evaluate the evidence for social genetic effects in livestock and other species, by reviewing estimates of genetic parameters for direct and social genetic effects. Then we describe the results of different selection experiments. Finally, we discuss issues concerning the implementation of social genetic effects in livestock breeding programs. This review demonstrates that selection for socially-affected traits, using methods that target both the direct and social genetic effects, is a promising, but sometimes difficult to use in practice, tool to simultaneously improve production and welfare in livestock.

Genetically improved conifers for the Lake States

Treesearch

Jonathan W. Wright

1973-01-01

The Lake States provenance test of jack pine was started by Paul Rudolf of the USDA Forest Service in 1951. That marked the beginning of two decades of serious tree improvement research in the region. In this paper I shall recount some of the progress that has been made. But it is also necessary to consider the extent to which genetic improvements have been put to...

Ex situ genetic conservation of vulnerable high elevation conifer species in the Pacific Northwest, USA

Treesearch

A. Bower; M. Horning

2017-01-01

Species with small or disjunct populations, and those populations at the southern margin of a species’ range, are likely to be at higher risk from climate change. Two recent U.S. Department of Agriculture Forest Service (USDA FS) documents (Devine et al. 2012, Erickson et al. 2012) have advocated for ex situ genetic conservation of seed and...

Genetic analysis of milk β-hydroxybutyrate and its association with fat-to-protein ratio, body condition score, clinical ketosis, and displaced abomasum in early first lactation of Canadian Holsteins.

PubMed

Koeck, A; Jamrozik, J; Schenkel, F S; Moore, R K; Lefebvre, D M; Kelton, D F; Miglior, F

2014-11-01

The aim of this study was to estimate genetic parameters for milk β-hydroxybutyrate (BHBA) in early first lactation of Canadian Holstein cows and to examine its genetic association with indicators of energy balance (fat-to-protein ratio and body condition score) and metabolic diseases (clinical ketosis and displaced abomasum). Data for milk BHBA recorded between 5 and 100 d in milk was obtained from Valacta (Sainte-Anne-de-Bellevue, Québec, Canada), the Canadian Dairy Herd Improvement organization responsible for Québec and Atlantic provinces. Test-day milk samples were analyzed by mid-infrared spectrometry using previously developed calibration equations for milk BHBA. Test-day records of fat-to-protein ratio were obtained from the routine milk recording scheme. Body condition score records were available from the routine type classification system. Data on clinical ketosis and displaced abomasum recorded by producers were available from the national dairy cattle health system in Canada. Data were analyzed using linear animal models. Heritability estimates for milk BHBA at different stages of early lactation were between 0.14 and 0.29. Genetic correlations between milk BHBA were higher between adjacent lactation intervals and decreased as intervals were further apart. Correlations between breeding values for milk BHBA and routinely evaluated traits revealed that selection for lower milk BHBA in early lactation would lead to an improvement of several health and fertility traits, including SCS, calving to first service, number of services, first service to conception, and days open. Also, lower milk BHBA was associated with a longer herd life, better conformation, and better feet and legs. A higher genetic merit for milk yield was associated with higher milk BHBA, and, therefore, a greater susceptibility to hyperketonemia. Milk BHBA at the first test-day was moderately genetically correlated with fat-to-protein ratio (0.49), body condition score (-0.35), and clinical ketosis (0.48), whereas the genetic correlation with displaced abomasum was near zero (0.07). Milk BHBA can be routinely analyzed in milk samples at test days, and, therefore, provides a practical tool for breeding cows less susceptible to hyperketonemia. Copyright © 2014 American Dairy Science Association. Published by Elsevier Inc. All rights reserved.

Methods of analysis and resources available for genetic trait mapping.

PubMed

Ott, J

1999-01-01

Methods of genetic linkage analysis are reviewed and put in context with other mapping techniques. Sources of information are outlined (books, web sites, computer programs). Special consideration is given to statistical problems in canine genetic mapping (heterozygosity, inbreeding, marker maps).

Methods for the survey and genetic analysis of populations

DOEpatents

Ashby, Matthew

2003-09-02

The present invention relates to methods for performing surveys of the genetic diversity of a population. The invention also relates to methods for performing genetic analyses of a population. The invention further relates to methods for the creation of databases comprising the survey information and the databases created by these methods. The invention also relates to methods for analyzing the information to correlate the presence of nucleic acid markers with desired parameters in a sample. These methods have application in the fields of geochemical exploration, agriculture, bioremediation, environmental analysis, clinical microbiology, forensic science and medicine.

A Rapid Systematic Review of Outcomes Studies in Genetic Counseling.

PubMed

Madlensky, Lisa; Trepanier, Angela M; Cragun, Deborah; Lerner, Barbara; Shannon, Kristen M; Zierhut, Heather

2017-06-01

As healthcare reimbursement is increasingly tied to value-of-service, it is critical for the genetic counselor (GC) profession to demonstrate the value added by GCs through outcomes research. We conducted a rapid systematic literature review to identify outcomes of genetic counseling. Web of Science (including PubMed) and CINAHL databases were systematically searched to identify articles meeting the following criteria: 1) measures were assessed before and after genetic counseling (pre-post design) or comparisons were made between a GC group vs. a non-GC group (comparative cohort design); 2) genetic counseling outcomes could be assessed independently of genetic testing outcomes, and 3) genetic counseling was conducted by masters-level genetic counselors, or non-physician providers. Twenty-three papers met the inclusion criteria. The majority of studies were in the cancer genetic setting and the most commonly measured outcomes included knowledge, anxiety or distress, satisfaction, perceived risk, genetic testing (intentions or receipt), health behaviors, and decisional conflict. Results suggest that genetic counseling can lead to increased knowledge, perceived personal control, positive health behaviors, and improved risk perception accuracy as well as decreases in anxiety, cancer-related worry, and decisional conflict. However, further studies are needed to evaluate a wider array of outcomes in more diverse genetic counseling settings.

A fast boosting-based screening method for large-scale association study in complex traits with genetic heterogeneity.

PubMed

Wang, Lu-Yong; Fasulo, D

2006-01-01

Genome-wide association study for complex diseases will generate massive amount of single nucleotide polymorphisms (SNPs) data. Univariate statistical test (i.e. Fisher exact test) was used to single out non-associated SNPs. However, the disease-susceptible SNPs may have little marginal effects in population and are unlikely to retain after the univariate tests. Also, model-based methods are impractical for large-scale dataset. Moreover, genetic heterogeneity makes the traditional methods harder to identify the genetic causes of diseases. A more recent random forest method provides a more robust method for screening the SNPs in thousands scale. However, for more large-scale data, i.e., Affymetrix Human Mapping 100K GeneChip data, a faster screening method is required to screening SNPs in whole-genome large scale association analysis with genetic heterogeneity. We propose a boosting-based method for rapid screening in large-scale analysis of complex traits in the presence of genetic heterogeneity. It provides a relatively fast and fairly good tool for screening and limiting the candidate SNPs for further more complex computational modeling task.

Coherent spectroscopic methods for monitoring pathogens, genetically modified products and nanostructured materials in colloidal solution

NASA Astrophysics Data System (ADS)

Moguilnaya, T.; Suminov, Y.; Botikov, A.; Ignatov, S.; Kononenko, A.; Agibalov, A.

2017-01-01

We developed the new automatic method that combines the method of forced luminescence and stimulated Brillouin scattering. This method is used for monitoring pathogens, genetically modified products and nanostructured materials in colloidal solution. We carried out the statistical spectral analysis of pathogens, genetically modified soy and nano-particles of silver in water from different regions in order to determine the statistical errors of the method. We studied spectral characteristics of these objects in water to perform the initial identification with 95% probability. These results were used for creation of the model of the device for monitor of pathogenic organisms and working model of the device to determine the genetically modified soy in meat.

Genetic conservation and paddlefish propagation

USGS Publications Warehouse

Sloss, Brian L.; Klumb, Robert A.; Heist, Edward J.

2009-01-01

The conservation of genetic diversity of our natural resources is overwhelmingly one of the central foci of 21st century management practices. Three recommendations related to the conservation of paddlefish Polyodon spathula genetic diversity are to (1) identify genetic diversity at both nuclear and mitochondrial DNA loci using a suggested list of 20 sampling locations, (2) use genetic diversity estimates to develop genetic management units, and (3) identify broodstock sources to minimize effects of supplemental stocking on the genetic integrity of native paddlefish populations. We review previous genetic work on paddlefish and described key principles and concepts associated with maintaining genetic diversity within and among paddlefish populations and also present a genetic case study of current paddlefish propagation at the U.S. Fish and Wildlife Service Gavins Point National Fish Hatchery. This study confirmed that three potential sources of broodfish were genetically indistinguishable at the loci examined, allowing the management agencies cooperating on this program flexibility in sampling gametes. This study also showed significant bias in the hatchery occurred in terms of male reproductive contribution, which resulted in a shift in the genetic diversity of progeny compared to the broodfish. This shift was shown to result from differential male contributions, partially attributed to the mode of egg fertilization. Genetic insights enable implementation of a paddlefish propagation program within an adaptive management strategy that conserves inherent genetic diversity while achieving demographic goals.

Norton & Elaine Sarnoff Center for Jewish Genetics

MedlinePlus

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[Direct to consumer genetic testing: is it the moment?].

PubMed

Lamoril, Jérôme; Bogard, Marc

2016-01-01

Since the development of new human genome sequencing technologies at the beginning of the 2000, commercial companies have developped direct to consumer genomic services, which means without medical prescription. From 2007 to 2013, many companies have offered services assesing associated risk with human public health in the world especially in the United States. This kind of company is forbidden in France. From 2009 to 2013, in United States, under the pressure of national or state health administrations, these companies have been progressively forbidden. However, in certain parts of the world, companies are still offering such services. The latter raise many different questions such as ethical, juridical, medical, scientific, educative, professional one. Many studies and debates have demonstrated their limit and the lack of usefulness and advantage in the field of human health for the time being. The commercialization of this type of services has arrived all too soon et is not yet ripe. In our time of globalization, with the lack of international rules controlling direct access to genetic services in the field of human health, there is an urgent need to regulate. International administrations and politicians must act fast. Inevitably, under the pressure of lobbies and citizens, companies (multinational or not) will develop especially as 1) new sequencing technologies evolve rapidly, 2) are cheaper from year to year, 3) scientific and medical knowledges are progressing quickly, 4) services are spreading faster through the web and other networks.

Measuring Stability and Security in Iraq

DTIC Science & Technology

2010-06-01

irrigation and agricultural infrastructure contribute to continued difficulties in this sector. Poor plant and animal genetics, insufficient fertilizer...education of public and private sector representatives, better management of water and soil resources, and improving animal and plant health. USDA...the National Agricultural Statistics Service, animal disease experts from the Animal and Plant Health Inspection Service, and experts from other

Balancing the Pros and Cons of GMOs: Socio-Scientific Argumentation in Pre-Service Teacher Education

ERIC Educational Resources Information Center

Cinici, Ayhan

2016-01-01

This study investigates the role of the discursive process in the act of scientific knowledge building. Specifically, it links scientific knowledge building to risk perception of Genetically Modified Organisms (GMOs). To this end, this study designed and implemented a three-stage argumentation programme giving pre-service teachers (PSTs) the…

A Model for QoS – Aware Wireless Communication in Hospitals

PubMed Central

Alavikia, Zahra; Khadivi, Pejman; Hashemi, Masoud Reza

2012-01-01

In the recent decade, research regarding wireless applications in electronic health (e-Health) services has been increasing. The main benefits of using wireless technologies in e-Health applications are simple communications, fast delivery of medical information, reducing treatment cost and also reducing the medical workers’ error rate. However, using wireless communications in sensitive healthcare environment raises electromagnetic interference (EMI). One of the most effective methods to avoid the EMI problem is power management. To this end, some of methods have been proposed in the literature to reduce EMI effects in health care environments. However, using these methods may result in nonaccurate interference avoidance and also may increase network complexity. To overcome these problems, we introduce two approaches based on per-user location and hospital sectoring for power management in sensitive healthcare environments. Although reducing transmission power could avoid EMI, it causes a number of successful message deliveries to the access point to decrease and, hence, the quality of service requirements cannot be meet. In this paper, we propose the use of relays for decreasing the probability of outage in the aforementioned scenario. Relay placement is the main factor to enjoy the usefulness of relay station benefits in the network and, therefore, we use the genetic algorithm to compute the optimum positions of a fixed number of relays. We have considered delay and maximum blind point coverage as two main criteria in relay station problem. The performance of the proposed method in outage reduction is investigated through simulations. PMID:23493832

A Model for QoS - Aware Wireless Communication in Hospitals.

PubMed

Alavikia, Zahra; Khadivi, Pejman; Hashemi, Masoud Reza

2012-01-01

In the recent decade, research regarding wireless applications in electronic health (e-Health) services has been increasing. The main benefits of using wireless technologies in e-Health applications are simple communications, fast delivery of medical information, reducing treatment cost and also reducing the medical workers' error rate. However, using wireless communications in sensitive healthcare environment raises electromagnetic interference (EMI). One of the most effective methods to avoid the EMI problem is power management. To this end, some of methods have been proposed in the literature to reduce EMI effects in health care environments. However, using these methods may result in nonaccurate interference avoidance and also may increase network complexity. To overcome these problems, we introduce two approaches based on per-user location and hospital sectoring for power management in sensitive healthcare environments. Although reducing transmission power could avoid EMI, it causes a number of successful message deliveries to the access point to decrease and, hence, the quality of service requirements cannot be meet. In this paper, we propose the use of relays for decreasing the probability of outage in the aforementioned scenario. Relay placement is the main factor to enjoy the usefulness of relay station benefits in the network and, therefore, we use the genetic algorithm to compute the optimum positions of a fixed number of relays. We have considered delay and maximum blind point coverage as two main criteria in relay station problem. The performance of the proposed method in outage reduction is investigated through simulations.

Evolving hard problems: Generating human genetics datasets with a complex etiology.

PubMed

Himmelstein, Daniel S; Greene, Casey S; Moore, Jason H

2011-07-07

A goal of human genetics is to discover genetic factors that influence individuals' susceptibility to common diseases. Most common diseases are thought to result from the joint failure of two or more interacting components instead of single component failures. This greatly complicates both the task of selecting informative genetic variants and the task of modeling interactions between them. We and others have previously developed algorithms to detect and model the relationships between these genetic factors and disease. Previously these methods have been evaluated with datasets simulated according to pre-defined genetic models. Here we develop and evaluate a model free evolution strategy to generate datasets which display a complex relationship between individual genotype and disease susceptibility. We show that this model free approach is capable of generating a diverse array of datasets with distinct gene-disease relationships for an arbitrary interaction order and sample size. We specifically generate eight-hundred Pareto fronts; one for each independent run of our algorithm. In each run the predictiveness of single genetic variation and pairs of genetic variants have been minimized, while the predictiveness of third, fourth, or fifth-order combinations is maximized. Two hundred runs of the algorithm are further dedicated to creating datasets with predictive four or five order interactions and minimized lower-level effects. This method and the resulting datasets will allow the capabilities of novel methods to be tested without pre-specified genetic models. This allows researchers to evaluate which methods will succeed on human genetics problems where the model is not known in advance. We further make freely available to the community the entire Pareto-optimal front of datasets from each run so that novel methods may be rigorously evaluated. These 76,600 datasets are available from http://discovery.dartmouth.edu/model_free_data/.

Transparency of genetic testing services for 'health, wellness and lifestyle': analysis of online prepurchase information for UK consumers.

PubMed

Hall, Jacqueline A; Gertz, Rena; Amato, Joan; Pagliari, Claudia

2017-08-01

The declining cost of DNA sequencing has been accompanied by a proliferation of companies selling 'direct-to-consumer genetic testing' (DTC-GT) services. Many of these are marketed online as tools for enabling citizens to make more informed decisions about their health, wellness and lifestyle. We assessed the 'information for consumers' provided by these companies at the prepurchase stage, which could influence initial decisions to part with money, data or tissue samples. A scoping exercise revealed 65 DTC-GT companies advertising their services online to consumers in the United Kingdom, of which 15 met our inclusion criteria. We benchmarked their consumer information against the good practice principles developed by the UK Human Genetics Commission (HGC). No provider complied with all the HGC principles and overall levels of compliance varied considerably. Although consent for testing was discussed by all but one company, information about data reuse for research or other purposes was often sparse and consent options limited or unclear. Most did not provide supplementary support services to help users better understand or cope with the implications of test results. We provide recommendations for updating the preconsumer transparency aspects of the HGC guidelines to ensure their fitness-for-purpose in this rapidly changing market. We also recommend improving coordination between relevant governance bodies to ensure minimum standards of transparency, quality and accountability. Although DTC-GT has many potential benefits, close partnership between consumers, industry and government, along with interdisciplinary science input, are essential to ensure that these innovations are used ethically and responsibly.

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness

PubMed Central

Severin, Franziska; Borry, Pascal; Cornel, Martina C; Daniels, Norman; Fellmann, Florence; Victoria Hodgson, Shirley; Howard, Heidi C; John, Jürgen; Kääriäinen, Helena; Kayserili, Hülya; Kent, Alastair; Koerber, Florian; Kristoffersson, Ulf; Kroese, Mark; Lewis, Celine; Marckmann, Georg; Meyer, Peter; Pfeufer, Arne; Schmidtke, Jörg; Skirton, Heather; Tranebjærg, Lisbeth; Rogowski, Wolf H

2015-01-01

Given the cost constraints of the European health-care systems, criteria are needed to decide which genetic services to fund from the public budgets, if not all can be covered. To ensure that high-priority services are available equitably within and across the European countries, a shared set of prioritization criteria would be desirable. A decision process following the accountability for reasonableness framework was undertaken, including a multidisciplinary EuroGentest/PPPC-ESHG workshop to develop shared prioritization criteria. Resources are currently too limited to fund all the beneficial genetic testing services available in the next decade. Ethically and economically reflected prioritization criteria are needed. Prioritization should be based on considerations of medical benefit, health need and costs. Medical benefit includes evidence of benefit in terms of clinical benefit, benefit of information for important life decisions, benefit for other people apart from the person tested and the patient-specific likelihood of being affected by the condition tested for. It may be subject to a finite time window. Health need includes the severity of the condition tested for and its progression at the time of testing. Further discussion and better evidence is needed before clearly defined recommendations can be made or a prioritization algorithm proposed. To our knowledge, this is the first time a clinical society has initiated a decision process about health-care prioritization on a European level, following the principles of accountability for reasonableness. We provide points to consider to stimulate this debate across the EU and to serve as a reference for improving patient management. PMID:25248395

Points to consider for prioritizing clinical genetic testing services: a European consensus process oriented at accountability for reasonableness.

PubMed

Severin, Franziska; Borry, Pascal; Cornel, Martina C; Daniels, Norman; Fellmann, Florence; Victoria Hodgson, Shirley; Howard, Heidi C; John, Jürgen; Kääriäinen, Helena; Kayserili, Hülya; Kent, Alastair; Koerber, Florian; Kristoffersson, Ulf; Kroese, Mark; Lewis, Celine; Marckmann, Georg; Meyer, Peter; Pfeufer, Arne; Schmidtke, Jörg; Skirton, Heather; Tranebjærg, Lisbeth; Rogowski, Wolf H

2015-06-01

Given the cost constraints of the European health-care systems, criteria are needed to decide which genetic services to fund from the public budgets, if not all can be covered. To ensure that high-priority services are available equitably within and across the European countries, a shared set of prioritization criteria would be desirable. A decision process following the accountability for reasonableness framework was undertaken, including a multidisciplinary EuroGentest/PPPC-ESHG workshop to develop shared prioritization criteria. Resources are currently too limited to fund all the beneficial genetic testing services available in the next decade. Ethically and economically reflected prioritization criteria are needed. Prioritization should be based on considerations of medical benefit, health need and costs. Medical benefit includes evidence of benefit in terms of clinical benefit, benefit of information for important life decisions, benefit for other people apart from the person tested and the patient-specific likelihood of being affected by the condition tested for. It may be subject to a finite time window. Health need includes the severity of the condition tested for and its progression at the time of testing. Further discussion and better evidence is needed before clearly defined recommendations can be made or a prioritization algorithm proposed. To our knowledge, this is the first time a clinical society has initiated a decision process about health-care prioritization on a European level, following the principles of accountability for reasonableness. We provide points to consider to stimulate this debate across the EU and to serve as a reference for improving patient management.

Basal cell carcinoma of the skin (part 1): epidemiology, pathology and genetic syndromes.

PubMed

Correia de Sá, Tiago Ribeiro; Silva, Roberto; Lopes, José Manuel

2015-11-01

Basal cell carcinoma (BCC) is the most common skin cancer worldwide with increasing incidence, but difficult to assess due to the current under registration practice. Despite the low mortality rate, BCC is a cause of great morbidity and an economic burden to health services. There are several risk factors that increase the risk of BCC and partly explain its incidence. Low-penetrance susceptibility alleles, as well as genetic alterations in signaling pathways, namely SHH pathway, also contribute to the carcinogenesis. BCC associate with several genetic syndromes, of which basal cell nevus syndrome is the most common.

A Test of Genetic Algorithms in Relevance Feedback.

ERIC Educational Resources Information Center

Lopez-Pujalte, Cristina; Guerrero Bote, Vicente P.; Moya Anegon, Felix de

2002-01-01

Discussion of information retrieval, query optimization techniques, and relevance feedback focuses on genetic algorithms, which are derived from artificial intelligence techniques. Describes an evaluation of different genetic algorithms using a residual collection method and compares results with the Ide dec-hi method (Salton and Buckley, 1990…

Exploring science teachers' pedagogical content knowledge in the teaching of genetics in Swaziland

NASA Astrophysics Data System (ADS)

Mthethwa-Kunene, Khetsiwe Eunice Faith

Recent trends show that learners' enrolment and performance in science at secondary school level is dwindling. Some science topics including genetics in biology are said to be difficult for learners to learn and thus they perform poorly in examinations. Teacher knowledge base, particularly topic-specific pedagogical content knowledge (PCK), has been identified by many researchers as an important factor that is linked with learner understanding and achievement in science. This qualitative study was an attempt to explore the PCK of four successful biology teachers and how they developed it in the context of teaching genetics. The purposive sampling technique was employed to select the participating teachers based on their schools' performance in biology public examinations and recommendations by science specialists and school principals. Pedagogical content knowledge was used as a theoretical framework for the study, which guided the inquiry in data collection, analysis and discussion of the research findings. The study adopted the case study method and various sources of evidence including concept maps, lesson plans, pre-lesson interviews, lesson observations, post-teaching teacher questionnaire, post-lesson interviews and document analysis were used to collect data on teachers' PCK as well as how PCK was assumed to have developed. The data were analysed in an attempt to determine the individual teachers' school genetics' content knowledge, related knowledge of instructional strategies and knowledge of learners' preconceptions and learning difficulties. The analysis involved an iterative process of coding data into PCK categories of content knowledge, pedagogical knowledge and knowledge of learners' preconceptions and learning difficulties. The findings of the study indicate that the four successful biology teachers generally have the necessary content knowledge of school genetics, used certain topic-specific instructional strategies, but lacked knowledge of genetics-related learners' preconceptions and learning difficulties despite having taught the topic for many years. There were some instructional deficits in their approaches and techniques in teaching genetics. The teachers failed to use physical models, teacher demonstration and/or learner experimentation in their lessons (or include them in their lesson plans) to assist learners in visualizing or internalizing the genetics concepts or processes located at the sub-microscopic level. The teachers' PCK in genetics teaching was assumed to have developed mainly through formal university education programmes, classroom teaching experiences, peer support and participation in in-service workshops. The implications for biology teacher education are also discussed.

Pulmonary arterial hypertension: Specialists’ knowledge, practices, and attitudes of genetic counseling and genetic testing in the USA

PubMed Central

Jacher, Joseph E.; Martin, Lisa J.; Chung, Wendy K.; Loyd, James E.; Nichols, William C.

2017-01-01

Pulmonary arterial hypertension (PAH) is characterized by obstruction of pre-capillary pulmonary arteries, which leads to sustained elevation of pulmonary arterial pressure. Identifying those at risk through early interventions, such as genetic testing, may mitigate disease course. Current practice guidelines recommend genetic counseling and offering genetic testing to individuals with heritable PAH, idiopathic PAH, and their family members. However, it is unclear if PAH specialists follow these recommendations. Thus, our research objective was to determine PAH specialists’ knowledge, utilization, and perceptions about genetic counseling and genetic testing. A survey was designed and distributed to PAH specialists who primarily work in the USA to assess their knowledge, practices, and attitudes about the genetics of PAH. Participants’ responses were analyzed using parametric and non-parametric statistics and groups were compared using the Wilcoxon rank sum test. PAH specialists had low perceived and actual knowledge of the genetics of PAH, with 13.2% perceiving themselves as knowledgeable and 27% actually being knowledgeable. Although these specialists had positive or ambivalent attitudes about genetic testing and genetic counseling, they had poor utilization of these genetic services, with almost 80% of participants never or rarely ordering genetic testing or referring their patients with PAH for genetic counseling. Physicians were more knowledgeable, but had lower perceptions of the value of genetic testing and genetic counseling compared to non-physicians (P < 0.05). The results suggest that increased education and awareness is needed about the genetics of PAH as well as the benefits of genetic testing and genetic counseling for individuals who treat patients with PAH. PMID:28597770

Aligning policy to promote cascade genetic screening for prevention and early diagnosis of heritable diseases.

PubMed

George, Rani; Kovak, Karen; Cox, Summer L

2015-06-01

Cascade genetic screening is a methodology for identifying and testing close blood relatives of individuals at increased risk for heritable conditions and follows a sequential process, minimizing testing costs and the number of family members who need to be tested. It offers considerable potential for cost savings and increased awareness of heritable conditions within families. CDC-classified Tier 1 genomic applications for hereditary breast and ovarian cancer syndrome (HBOC), Lynch Syndrome (LS), and familial hypercholesterolemia (FH) are recommended for clinical use and support the use of cascade genetic screening. Most individuals are unaware of their increased risk for heritable conditions such as HBOC, LS, and FH. Consistent implementation of cascade genetic screening could significantly increase awareness and prevention of heritable conditions. Limitations to effective implementation of cascade genetic screening include: insufficient genetic risk assessment and knowledge by a majority of healthcare providers without genetics credentials; a shortage of genetic specialists, especially in rural areas; a low rate of reimbursement for comprehensive genetic counseling services; and an individual focus on prevention by clinical guidelines and insurance coverage. The family-centric approach of cascade genetic screening improves prevention and early diagnosis of heritable diseases on a population health level. Cascade genetic screening could be better supported and augmented through changes in health policy.

Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics.

PubMed

Sharer, J Daniel; Bodamer, Olaf; Longo, Nicola; Tortorelli, Silvia; Wamelink, Mirjam M C; Young, Sarah

2017-02-01

Disclaimer: These ACMG Standards and Guidelines are intended as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. Adherence to these standards and guidelines is voluntary and does not necessarily assure a successful medical outcome. These Standards and Guidelines should not be considered inclusive of all proper procedures and tests or exclusive of others that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, clinical laboratory geneticists should apply their professional judgment to the specific circumstances presented by the patient or specimen. Clinical laboratory geneticists are encouraged to document in the patient's record the rationale for the use of a particular procedure or test, whether or not it is in conformance with these Standards and Guidelines. They also are advised to take notice of the date any particular guideline was adopted, and to consider other relevant medical and scientific information that becomes available after that date. It also would be prudent to consider whether intellectual property interests may restrict the performance of certain tests and other procedures.Cerebral creatine deficiency syndromes are neurometabolic conditions characterized by intellectual disability, seizures, speech delay, and behavioral abnormalities. Several laboratory methods are available for preliminary and confirmatory diagnosis of these conditions, including measurement of creatine and related metabolites in biofluids using liquid chromatography-tandem mass spectrometry or gas chromatography-mass spectrometry, enzyme activity assays in cultured cells, and DNA sequence analysis. These guidelines are intended to standardize these procedures to help optimize the diagnosis of creatine deficiency syndromes. While biochemical methods are emphasized, considerations for confirmatory molecular testing are also discussed, along with variables that influence test results and interpretation.Genet Med 19 2, 256-263.

Learning and Doing: An Interview with Bill Wood.

PubMed

Wood, William B

2016-06-01

THE Genetics Society of America's Elizabeth W. Jones Award for Excellence in Education recognizes significant and sustained impact on genetics education. As well as having made major contributions to biochemistry and developmental genetics, the 2016 awardee William B. Wood has been a pioneer in the reform of science teaching. Wood's leadership has been crucial in several national initiatives and programs, including the development of the influential National Academies Summer institutes on Undergraduate Education in Biology. He has also catalyzed change in education through his service as Editor-in-Chief of CBE-Life Sciences Education, a peer-reviewed journal published by the American Society for Cell Biology, in editorial partnership with the GSA. Copyright © 2016 by the Genetics Society of America.

Delivery of genomic medicine for common chronic adult diseases: a systematic review.

PubMed

Scheuner, Maren T; Sieverding, Pauline; Shekelle, Paul G

2008-03-19

The greatest public health benefit of advances in understanding the human genome may be realized for common chronic diseases such as cardiovascular disease, diabetes mellitus, and cancer. Attempts to integrate such knowledge into clinical practice are still in the early stages, and as a result, many questions surround the current state of this translation. To synthesize current information on genetic health services for common adult-onset conditions by examining studies that have addressed the outcomes, consumer information needs, delivery, and challenges in integrating these services. MEDLINE articles published between January 2000 and February 2008. Original research articles and systematic reviews dealing with common chronic adult-onset conditions were reviewed. A total of 3371 citations were reviewed, 170 articles retrieved, and 68 articles included in the analysis. Data were independently extracted by one reviewer and checked by another with disagreement resolved by consensus. Variables assessed included study design and 4 key areas: outcomes of genomic medicine, consumer information needs, delivery of genomic medicine, and challenges and barriers to integration of genomic medicine. Sixty-eight articles contributed data to the synthesis: 5 systematic reviews, 8 experimental studies, 35 surveys, 7 pre/post studies, 3 observational studies, and 10 qualitative reports. Three systematic reviews, 4 experimental studies, and 9 additional studies reported on outcomes of genetic services. Generally there were modest positive effects on psychological outcomes such as worry and anxiety, behavioral outcomes have shown mixed results, and clinical outcomes were less well studied. One systematic review, 1 randomized controlled trial, and 14 other studies assessed consumer information needs and found in general that genetics knowledge was reported to be low but that attitudes were generally positive. Three randomized controlled trials and 13 other studies assessed how genomic medicine is delivered and newer models of delivery. One systematic review and 19 other studies assessed barriers; the most consistent finding was the self-assessed inadequacy of the primary care workforce to deliver genetic services. Additional identified barriers included lack of oversight of genetic testing and concerns about privacy and discrimination. Many gaps in knowledge about organization, clinician, and patient needs must be filled to translate basic and clinical science advances in genomics of common chronic diseases into practice.

Utilization of Genetic Counseling after Direct-to-Consumer Genetic Testing: Findings from the Impact of Personal Genomics (PGen) Study.

PubMed

Koeller, Diane R; Uhlmann, Wendy R; Carere, Deanna Alexis; Green, Robert C; Roberts, J Scott

2017-12-01

Direct-to-consumer personal genomic testing (DTC-PGT) results lead some individuals to seek genetic counseling (GC), but little is known about these consumers and why they seek GC services. We analyzed survey data pre- and post-PGT from 1026 23andMe and Pathway Genomics customers. Participants were mostly white (91%), female (60%), and of high socioeconomic status (80% college educated, 43% household income of ≥$100,000). After receiving PGT results, 43 participants (4%) made or planned to schedule an appointment with a genetic counselor; 390 (38%) would have used in-person GC had it been available. Compared to non-seekers, GC seekers were younger (mean age of 38 vs 46 years), more frequently had children <18 (26% vs 16%), and were more likely to report previous GC (37% vs 7%) and genetic testing (30% vs 15%). In logistic regression analysis, seeking GC was associated with previous GC use (OR = 6.5, CI = 3.1-13.8), feeling motivated to pursue DTC-PGT for health reasons (OR = 4.3, CI = 1.8-10.1), fair or poor self-reported health (OR = 3.1, CI = 1.1-8.3), and self-reported uncertainty about the results (OR = 1.8, CI = 1.1-2.7). These findings can help GC providers anticipate who might seek GC services and plan for clinical discussions of DTC-PGT results.

Applying Quantitative Genetic Methods to Primate Social Behavior

PubMed Central

Brent, Lauren J. N.

2013-01-01

Increasingly, behavioral ecologists have applied quantitative genetic methods to investigate the evolution of behaviors in wild animal populations. The promise of quantitative genetics in unmanaged populations opens the door for simultaneous analysis of inheritance, phenotypic plasticity, and patterns of selection on behavioral phenotypes all within the same study. In this article, we describe how quantitative genetic techniques provide studies of the evolution of behavior with information that is unique and valuable. We outline technical obstacles for applying quantitative genetic techniques that are of particular relevance to studies of behavior in primates, especially those living in noncaptive populations, e.g., the need for pedigree information, non-Gaussian phenotypes, and demonstrate how many of these barriers are now surmountable. We illustrate this by applying recent quantitative genetic methods to spatial proximity data, a simple and widely collected primate social behavior, from adult rhesus macaques on Cayo Santiago. Our analysis shows that proximity measures are consistent across repeated measurements on individuals (repeatable) and that kin have similar mean measurements (heritable). Quantitative genetics may hold lessons of considerable importance for studies of primate behavior, even those without a specific genetic focus. PMID:24659839

How to Teach Procedures, Problem Solving, and Concepts in Microbial Genetics

ERIC Educational Resources Information Center

Bainbridge, Brian W.

1977-01-01

Flow-diagrams, algorithms, decision logic tables, and concept maps are presented in detail as methods for teaching practical procedures, problem solving, and basic concepts in microbial genetics. It is suggested that the flexible use of these methods should lead to an improved understanding of microbial genetics. (Author/MA)

Investigating genetic discrimination in Australia: a large-scale survey of clinical genetics clients.

PubMed

Taylor, S; Treloar, S; Barlow-Stewart, K; Stranger, M; Otlowski, M

2008-07-01

We report first results from the Australian Genetic Discrimination Project of clinical genetics services clients' perceptions and experiences regarding alleged differential treatment associated with having genetic information. Adults (n = 2667) who had presented from 1998 to 2003 regarding predictive or presymptomatic testing for designated mature-onset conditions were surveyed; 951/1185 respondents met inclusion criteria for current asymptomatic status. Neurological conditions and familial cancers were primary relevant conditions for 87% of asymptomatic respondents. Specific incidents of alleged negative treatment, reported by 10% (n = 93) of respondents, occurred in life insurance (42%), employment (5%), family (22%), social (11%) and health (20%) domains. Respondents where neuro-degenerative conditions were relevant were more likely overall to report incidents and significantly more likely to report incidents in the social domain. Most incidents in the post-test period occurred in the first year after testing. Only 15% of respondents knew where to complain officially if treated negatively because of genetics issues. Recommendations include the need for increased community and clinical education regarding genetic discrimination, for extended clinical genetics sector engagement and for co-ordinated monitoring, research and policy development at national levels in order for the full benefits of genetic testing technology to be realised.

Development of a Streamlined Work Flow for Handling Patients' Genetic Testing Insurance Authorizations.

PubMed

Uhlmann, Wendy R; Schwalm, Katie; Raymond, Victoria M

2017-08-01

Obtaining genetic testing insurance authorizations for patients is a complex, time-involved process often requiring genetic counselor (GC) and physician involvement. In an effort to mitigate this complexity and meet the increasing number of genetic testing insurance authorization requests, GCs formed a novel partnership with an industrial engineer (IE) and a patient services associate (PSA) to develop a streamlined work flow. Eight genetics clinics and five specialty clinics at the University of Michigan were surveyed to obtain benchmarking data. Tasks needed for genetic testing insurance authorization were outlined and time-saving work flow changes were introduced including 1) creation of an Excel password-protected shared database between GCs and PSAs, used for initiating insurance authorization requests, tracking and follow-up 2) instituting the PSAs sending GCs a pre-clinic email noting each patients' genetic testing insurance coverage 3) inclusion of test medical necessity documentation in the clinic visit summary note instead of writing a separate insurance letter and 4) PSAs development of a manual with insurance providers and genetic testing laboratories information. These work flow changes made it more efficient to request and track genetic testing insurance authorizations for patients, enhanced GCs and PSAs communication, and reduced tasks done by clinicians.

Pediatric Predispositional Genetic Risk Communication: Potential Utility for Prevention and Control of Melanoma Risk as an Exemplar.

PubMed

Wu, Yelena P; Mays, Darren; Kohlmann, Wendy; Tercyak, Kenneth P

2017-10-01

Predispositional genetic testing among minor children is intensely debated due to the potential benefits and harms of providing this type of genetic information to children and their families. Existing guidelines on pediatric genetic testing state that predispositional testing could be appropriate for minors if preventive services exist that mitigate children's risk for or severity of the health condition in question. We use the example of hereditary melanoma to illustrate the rationale for and potential application of genetic risk communication for an adult-onset cancer to a pediatric population where childhood behaviors may reduce risk of disease later in life. We draw from the adult melanoma genetic risk communication and pediatric health behavior change literatures to suggest ways in which genetic test reporting and complementary education could be delivered to children who carry a hereditary risk for melanoma and their families in order to foster children's engagement in melanoma preventive behaviors. Genetic discoveries will continue to yield new opportunities to provide predispositional genetic risk information to unaffected individuals, including children, and could be delivered within programs that provide personalized and translational approaches to cancer prevention.

Perceptions of genetic discrimination among people at risk for Huntington's disease: a cross sectional survey.

PubMed

Bombard, Yvonne; Veenstra, Gerry; Friedman, Jan M; Creighton, Susan; Currie, Lauren; Paulsen, Jane S; Bottorff, Joan L; Hayden, Michael R

2009-06-09

To assess the nature and prevalence of genetic discrimination experienced by people at risk for Huntington's disease who had undergone genetic testing or remained untested. Cross sectional, self reported survey. Seven genetics and movement disorders clinics servicing rural and urban communities in Canada. 233 genetically tested and untested asymptomatic people at risk for Huntington's disease (response rate 80%): 167 underwent testing (83 had the Huntington's disease mutation, 84 did not) and 66 chose not to be tested. Self reported experiences of genetic discrimination and related psychological distress based on family history or genetic test results. Discrimination was reported by 93 respondents (39.9%). Reported experiences occurred most often in insurance (29.2%), family (15.5%), and social (12.4%) settings. There were few reports of discrimination in employment (6.9%), health care (8.6%), or public sector settings (3.9%). Although respondents who were aware that they carried the Huntington's disease mutation reported the highest levels of discrimination, participation in genetic testing was not associated with increased levels of genetic discrimination. Family history of Huntington's disease, rather than the result of genetic testing, was the main reason given for experiences of genetic discrimination. Psychological distress was associated with genetic discrimination (P<0.001). Genetic discrimination was commonly reported by people at risk for Huntington's disease and was a source of psychological distress. Family history, and not genetic testing, was the major reason for genetic discrimination.

Perceptions and understanding of genetics and genetic eye disease and attitudes to genetic testing and gene therapy in a primary eye care setting.

PubMed

Ganne, Pratyusha; Garrioch, Robert; Votruba, Marcela

2015-03-01

Genetic eye pathology represents a significant percentage of the causes of blindness in industrialized countries. This study explores the level of understanding and perceptions of genetics and inherited eye diseases and the attitudes to genetic testing and gene therapy. The study was conducted in two parts. Participant groups included were: undergraduate students of optometry, primary eye care professionals and members of the general public. A preliminary study aimed to understand perceptions and to explore the level of knowledge about genetics in general, eye genetics and gene therapy. A second survey was designed to explore attitudes to genetic testing and gene therapy. The majority of participants (82%) perceived genetics as an important science. However, none of them showed a high level of understanding of genetics and inherited eye diseases. Undergraduate students and primary eye care professionals were better informed about inherited eye diseases than the general public (p = 0.001). The majority (80%) across all three groups had a positive attitude to genetic testing and gene therapy. There was a lack of knowledge about the genetic services available among all groups of participants. This calls for serious thinking about the level of dissemination of information about genetics and inherited eye diseases. It shows a broadly supportive attitude to genomic medicine among the public. Improving public awareness and education in inherited eye diseases can improve the utility of genetic testing and therapy.

Genetic Predisposition to Obesity and Medicare Expenditures.

PubMed

Wehby, George L; Domingue, Benjamin W; Ullrich, Fred; Wolinsky, Fredric D

2017-12-12

The relationship between obesity and health expenditures is not well understood. We examined the relationship between genetic predisposition to obesity measured by a polygenic risk score for body mass index (BMI) and Medicare expenditures. Biennial interview data from the Health and Retirement Survey for a nationally representative sample of older adults enrolled in fee-for-service Medicare were obtained from 1991 through 2010 and linked to Medicare claims for the same period and to Genome-Wide Association Study (GWAS) data. The study included 6,628 Medicare beneficiaries who provided 68,627 complete person-year observations during the study period. Outcomes were total and service-specific Medicare expenditures and indicators for expenditures exceeding the 75th and 90th percentiles. The BMI polygenic risk score was derived from GWAS data. Regression models were used to examine how the BMI polygenic risk score was related to health expenditures adjusting for demographic factors and GWAS-derived ancestry. Greater genetic predisposition to obesity was associated with higher Medicare expenditures. Specifically, a 1 SD increase in the BMI polygenic risk score was associated with a $805 (p < .001) increase in annual Medicare expenditures per person in 2010 dollars (~15% increase), a $370 (p < .001) increase in inpatient expenses, and a $246 (p < .001) increase in outpatient services. A 1 SD increase in the polygenic risk score was also related to increased likelihood of expenditures exceeding the 75th percentile by 18% (95% CI: 10%-28%) and the 90th percentile by 27% (95% CI: 15%-40%). Greater genetic predisposition to obesity is associated with higher Medicare expenditures. © The Author(s) 2017. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Automated design of genetic toggle switches with predetermined bistability.

PubMed

Chen, Shuobing; Zhang, Haoqian; Shi, Handuo; Ji, Weiyue; Feng, Jingchen; Gong, Yan; Yang, Zhenglin; Ouyang, Qi

2012-07-20

Synthetic biology aims to rationally construct biological devices with required functionalities. Methods that automate the design of genetic devices without post-hoc adjustment are therefore highly desired. Here we provide a method to predictably design genetic toggle switches with predetermined bistability. To accomplish this task, a biophysical model that links ribosome binding site (RBS) DNA sequence to toggle switch bistability was first developed by integrating a stochastic model with RBS design method. Then, to parametrize the model, a library of genetic toggle switch mutants was experimentally built, followed by establishing the equivalence between RBS DNA sequences and switch bistability. To test this equivalence, RBS nucleotide sequences for different specified bistabilities were in silico designed and experimentally verified. Results show that the deciphered equivalence is highly predictive for the toggle switch design with predetermined bistability. This method can be generalized to quantitative design of other probabilistic genetic devices in synthetic biology.

Genetic evaluation of mastitis liability and recovery through longitudinal analysis of transition probabilities

PubMed Central

2012-01-01

Background Many methods for the genetic analysis of mastitis use a cross-sectional approach, which omits information on, e.g., repeated mastitis cases during lactation, somatic cell count fluctuations, and recovery process. Acknowledging the dynamic behavior of mastitis during lactation and taking into account that there is more than one binary response variable to consider, can enhance the genetic evaluation of mastitis. Methods Genetic evaluation of mastitis was carried out by modeling the dynamic nature of somatic cell count (SCC) within the lactation. The SCC patterns were captured by modeling transition probabilities between assumed states of mastitis and non-mastitis. A widely dispersed SCC pattern generates high transition probabilities between states and vice versa. This method can model transitions to and from states of infection simultaneously, i.e. both the mastitis liability and the recovery process are considered. A multilevel discrete time survival model was applied to estimate breeding values on simulated data with different dataset sizes, mastitis frequencies, and genetic correlations. Results Correlations between estimated and simulated breeding values showed that the estimated accuracies for mastitis liability were similar to those from previously tested methods that used data of confirmed mastitis cases, while our results were based on SCC as an indicator of mastitis. In addition, unlike the other methods, our method also generates breeding values for the recovery process. Conclusions The developed method provides an effective tool for the genetic evaluation of mastitis when considering the whole disease course and will contribute to improving the genetic evaluation of udder health. PMID:22475575

Multi-spectral pyrometer for gas turbine blade temperature measurement

NASA Astrophysics Data System (ADS)

Gao, Shan; Wang, Lixin; Feng, Chi

2014-09-01

To achieve the highest possible turbine inlet temperature requires to accurately measuring the turbine blade temperature. If the temperature of blade frequent beyond the design limits, it will seriously reduce the service life. The problem for the accuracy of the temperature measurement includes the value of the target surface emissivity is unknown and the emissivity model is variability and the thermal radiation of the high temperature environment. In this paper, the multi-spectral pyrometer is designed provided mainly for range 500-1000°, and present a model corrected in terms of the error due to the reflected radiation only base on the turbine geometry and the physical properties of the material. Under different working conditions, the method can reduce the measurement error from the reflect radiation of vanes, make measurement closer to the actual temperature of the blade and calculating the corresponding model through genetic algorithm. The experiment shows that this method has higher accuracy measurements.

Analysis of Non-Genetic Factors Influencing Reproductive Traits of Japanese Black Heifer

NASA Astrophysics Data System (ADS)

Setiaji, A.; Oikawa, T.

2018-02-01

This study aimed was to identify non-genetic factors strongly associated with reproductive traits on Japanese Black heifer. Artificial insemination and calving records were analyzed to investigate non-genetic effect on reproductive performances. A total of 2220 records of heifer raised between 2005 and 2016 were utilized in this study. Studied traits were first service non return rate to 56 days (NRR), first service pregnancy rate (FPR), days from first to successful insemination (FSI), number of services per conception (NSC), age at first calving (AFC), and gestation length (GL). Test of significance for effects in the statistical model was performed using GLM procedure of SAS 9.3. The yearling trend was plotted on the adjusted mean of parameters, by the least square mean procedure. Means of NRR, FPR, FSI, NSC, AFC and GL were 72%, 53%, 52.71 days, 1.76, 760.71 days and 288.26 days, respectively. The effect of farm was significant (P<0.001) for FSI, AFC, and GL. The effects of age of heifer at first insemination was significant (P<0.001) for AFC. Month of insemination and sex of calf were significant (P<0.001) for GL. Compared with average value of reproductive traits, NSC and GL were generally within standard values for Japanese Black cattle, while AFC was slightly earlier. The result indicated that different management of farms strongly influenced reproductive traits of Japanese Black heifer.

CRISPR/Cas9 Editing of the Bacillus subtilis Genome

PubMed Central

Burby, Peter E.; Simmons, Lyle A.

2017-01-01

A fundamental procedure for most modern biologists is the genetic manipulation of the organism under study. Although many different methods for editing bacterial genomes have been used in laboratories for decades, the adaptation of CRISPR/Cas9 technology to bacterial genetics has allowed researchers to manipulate bacterial genomes with unparalleled facility. CRISPR/Cas9 has allowed for genome edits to be more precise, while also increasing the efficiency of transferring mutations into a variety of genetic backgrounds. As a result, the advantages are realized in tractable organisms and organisms that have been refractory to genetic manipulation. Here, we describe our method for editing the genome of the bacterium Bacillus subtilis. Our method is highly efficient, resulting in precise, markerless mutations. Further, after generating the editing plasmid, the mutation can be quickly introduced into several genetic backgrounds, greatly increasing the speed with which genetic analyses may be performed. PMID:28706963

Emphasizing the History of Genetics in an Explicit and Reflective Approach to Teaching the Nature of Science

NASA Astrophysics Data System (ADS)

Williams, Cody Tyler; Rudge, David Wÿss

2016-05-01

Science education researchers have long advocated the central role of the nature of science (NOS) for our understanding of scientific literacy. NOS is often interpreted narrowly to refer to a host of epistemological issues associated with the process of science and the limitations of scientific knowledge. Despite its importance, practitioners and researchers alike acknowledge that students have difficulty learning NOS and that this in part reflects how difficult it is to teach. One particularly promising method for teaching NOS involves an explicit and reflective approach using the history of science. The purpose of this study was to determine the influence of a historically based genetics unit on undergraduates' understanding of NOS. The three-class unit developed for this study introduces students to Mendelian genetics using the story of Gregor Mendel's work. NOS learning objectives were emphasized through discussion questions and investigations. The unit was administered to undergraduates in an introductory biology course for pre-service elementary teachers. The influence of the unit was determined by students' responses to the SUSSI instrument, which was administered pre- and post-intervention. In addition, semi-structured interviews were conducted that focused on changes in students' responses from pre- to post-test. Data collected indicated that students showed improved NOS understanding related to observations, inferences, and the influence of culture on science.

The creation and evaluation of a model to simulate the probability of conception in seasonal-calving pasture-based dairy heifers.

PubMed

Fenlon, Caroline; O'Grady, Luke; Butler, Stephen; Doherty, Michael L; Dunnion, John

2017-01-01

Herd fertility in pasture-based dairy farms is a key driver of farm economics. Models for predicting nulliparous reproductive outcomes are rare, but age, genetics, weight, and BCS have been identified as factors influencing heifer conception. The aim of this study was to create a simulation model of heifer conception to service with thorough evaluation. Artificial Insemination service records from two research herds and ten commercial herds were provided to build and evaluate the models. All were managed as spring-calving pasture-based systems. The factors studied were related to age, genetics, and time of service. The data were split into training and testing sets and bootstrapping was used to train the models. Logistic regression (with and without random effects) and generalised additive modelling were selected as the model-building techniques. Two types of evaluation were used to test the predictive ability of the models: discrimination and calibration. Discrimination, which includes sensitivity, specificity, accuracy and ROC analysis, measures a model's ability to distinguish between positive and negative outcomes. Calibration measures the accuracy of the predicted probabilities with the Hosmer-Lemeshow goodness-of-fit, calibration plot and calibration error. After data cleaning and the removal of services with missing values, 1396 services remained to train the models and 597 were left for testing. Age, breed, genetic predicted transmitting ability for calving interval, month and year were significant in the multivariate models. The regression models also included an interaction between age and month. Year within herd was a random effect in the mixed regression model. Overall prediction accuracy was between 77.1% and 78.9%. All three models had very high sensitivity, but low specificity. The two regression models were very well-calibrated. The mean absolute calibration errors were all below 4%. Because the models were not adept at identifying unsuccessful services, they are not suggested for use in predicting the outcome of individual heifer services. Instead, they are useful for the comparison of services with different covariate values or as sub-models in whole-farm simulations. The mixed regression model was identified as the best model for prediction, as the random effects can be ignored and the other variables can be easily obtained or simulated.

Ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries: protocol for a systematic review.

PubMed

Zhong, Adrina; Darren, Benedict; Dimaras, Helen

2017-07-11

There has been little focus in the literature on how to build genetic testing and counseling services in low- and middle-income countries in a responsible, ethical, and culturally appropriate manner. It is unclear to what extent this area is being explored and what form further research should take. The proposed knowledge synthesis aims to fill this gap in knowledge and mine the existing data to determine the breadth of work in this area and identify ethical, social, and cultural issues that have emerged. An integrated knowledge translation approach will be undertaken by engaging knowledge users throughout the review to ensure relevance to their practice. Electronic databases encompassing various disciplines, such as healthcare, social sciences, and public health, will be searched. Studies that address clinical genetic testing and/or counseling and ethical, social, and/or cultural issues of these genetic services, and are performed in low- and middle-income countries as defined by World Bank will be considered for inclusion. Two independent reviewers will be involved in a two-stage literature screening process, data extraction, and quality appraisal. Studies included in the review will be analyzed by thematic analysis. A narrative synthesis guided by the social ecological model will be used to summarize findings. This systematic review will provide a foundation of evidence regarding ethical, social, and cultural issues related to clinical genetic testing and counseling in low- and middle-income countries. Using the social ecological model as a conceptual framework will facilitate the understanding of broader influences of the sociocultural context on an individual's experience with clinical genetic testing and counseling, thereby informing interdisciplinary sectors in future recommendations for practice and policy. PROSPERO CRD42016042894.

Detection of Genetically Modified Food: Has Your Food Been Genetically Modified?

ERIC Educational Resources Information Center

Brandner, Diana L.

2002-01-01

Explains the benefits and risks of genetically-modified foods and describes methods for genetically modifying food. Presents a laboratory experiment using a polymerase chain reaction (PCR) test to detect foreign DNA in genetically-modified food. (Contains 18 references.) (YDS)

Review of methods used for identification of biothreat agents in environmental protection and human health aspects.

PubMed

Mirski, Tomasz; Bartoszcze, Michał; Bielawska-Drózd, Agata; Cieślik, Piotr; Michalski, Aleksander J; Niemcewicz, Marcin; Kocik, Janusz; Chomiczewski, Krzysztof

2014-01-01

Modern threats of bioterrorism force the need to develop methods for rapid and accurate identification of dangerous biological agents. Currently, there are many types of methods used in this field of studies that are based on immunological or genetic techniques, or constitute a combination of both methods (immuno-genetic). There are also methods that have been developed on the basis of physical and chemical properties of the analytes. Each group of these analytical assays can be further divided into conventional methods (e.g. simple antigen-antibody reactions, classical PCR, real-time PCR), and modern technologies (e.g. microarray technology, aptamers, phosphors, etc.). Nanodiagnostics constitute another group of methods that utilize the objects at a nanoscale (below 100 nm). There are also integrated and automated diagnostic systems, which combine different methods and allow simultaneous sampling, extraction of genetic material and detection and identification of the analyte using genetic, as well as immunological techniques.

DOE Office of Scientific and Technical Information (OSTI.GOV)

Ruegg, Thomas Lawrence; Thelen, Michael P.

The present invention provides for a method of genetically modifying microorganisms to enhance resistance to ionic liquids, host cells genetically modified in accordance with the methods, and methods of using the host cells in a reaction comprising biomass that has been pretreated with ionic liquids.

A Method for Inferring an Individual’s Genetic Ancestry and Degree of Admixture Associated with Six Major Continental Populations

PubMed Central

Libiger, Ondrej; Schork, Nicholas J.

2013-01-01

The determination of the ancestry and genetic backgrounds of the subjects in genetic and general epidemiology studies is a crucial component in the analysis of relevant outcomes or associations. Although there are many methods for differentiating ancestral subgroups among individuals based on genetic markers only a few of these methods provide actual estimates of the fraction of an individual’s genome that is likely to be associated with different ancestral populations. We propose a method for assigning ancestry that works in stages to refine estimates of ancestral population contributions to individual genomes. The method leverages genotype data in the public domain obtained from individuals with known ancestries. Although we showcase the method in the assessment of ancestral genome proportions leveraging largely continental populations, the strategy can be used for assessing within-continent or more subtle ancestral origins with the appropriate data. PMID:23335941

Genetic algorithms

NASA Technical Reports Server (NTRS)

Wang, Lui; Bayer, Steven E.

1991-01-01

Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

Development and evaluation of a genomics training program for community health workers in Texas.

PubMed

Chen, Lei-Shih; Zhao, Shixi; Stelzig, Donaji; Dhar, Shweta U; Eble, Tanya; Yeh, Yu-Chen; Kwok, Oi-Man

2018-01-04

PurposeGenomics services have the potential to reduce incidence and mortality of diseases by providing individualized, family health history (FHH)-based prevention strategies to clients. These services may benefit from the involvement of community health workers (CHWs) in the provision of FHH-based genomics education and services, as CHWs are frontline public health workers and lay health educators, who share similar ethnicities, languages, socioeconomic statuses, and life experiences with the communities they serve. We developed, implemented, and evaluated the FHH-based genomics training program for CHWs.MethodsThis theory- and evidence-based FHH-focused genomics curriculum was developed by an interdisciplinary team. Full-day workshops in English and Spanish were delivered to 145 Texas CHWs (91.6% were Hispanic/black). Preworkshop, postworkshop, and 3-month follow-up data were collected.ResultsCHWs significantly improved their attitudes, intention, self-efficacy, and knowledge regarding adopting FHH-based genomics into their practice after the workshops. At 3-month follow-up, these scores remained higher, and there was a significant increase in CHWs' genomics practices.ConclusionThis FHH-based genomics training successfully educated Texas CHWs, and the outcomes were promising. Dissemination of training to CHWs in and outside of Texas is needed to promote better access to and delivery of personalized genomics services for the lay and underserved communities.GENETICS in MEDICINE advance online publication, 4 January 2018; doi:10.1038/gim.2017.236.

Heuristic Identification of Biological Architectures for Simulating Complex Hierarchical Genetic Interactions

PubMed Central

Moore, Jason H; Amos, Ryan; Kiralis, Jeff; Andrews, Peter C

2015-01-01

Simulation plays an essential role in the development of new computational and statistical methods for the genetic analysis of complex traits. Most simulations start with a statistical model using methods such as linear or logistic regression that specify the relationship between genotype and phenotype. This is appealing due to its simplicity and because these statistical methods are commonly used in genetic analysis. It is our working hypothesis that simulations need to move beyond simple statistical models to more realistically represent the biological complexity of genetic architecture. The goal of the present study was to develop a prototype genotype–phenotype simulation method and software that are capable of simulating complex genetic effects within the context of a hierarchical biology-based framework. Specifically, our goal is to simulate multilocus epistasis or gene–gene interaction where the genetic variants are organized within the framework of one or more genes, their regulatory regions and other regulatory loci. We introduce here the Heuristic Identification of Biological Architectures for simulating Complex Hierarchical Interactions (HIBACHI) method and prototype software for simulating data in this manner. This approach combines a biological hierarchy, a flexible mathematical framework, a liability threshold model for defining disease endpoints, and a heuristic search strategy for identifying high-order epistatic models of disease susceptibility. We provide several simulation examples using genetic models exhibiting independent main effects and three-way epistatic effects. PMID:25395175

Computer Simulation Is an Undervalued Tool for Genetic Analysis: A Historical View and Presentation of SHIMSHON – A Web-Based Genetic Simulation Package

PubMed Central

Greenberg, David A.

2011-01-01

Computer simulation methods are under-used tools in genetic analysis because simulation approaches have been portrayed as inferior to analytic methods. Even when simulation is used, its advantages are not fully exploited. Here, I present SHIMSHON, our package of genetic simulation programs that have been developed, tested, used for research, and used to generated data for Genetic Analysis Workshops (GAW). These simulation programs, now web-accessible, can be used by anyone to answer questions about designing and analyzing genetic disease studies for locus identification. This work has three foci: (1) the historical context of SHIMSHON's development, suggesting why simulation has not been more widely used so far. (2) Advantages of simulation: computer simulation helps us to understand how genetic analysis methods work. It has advantages for understanding disease inheritance and methods for gene searches. Furthermore, simulation methods can be used to answer fundamental questions that either cannot be answered by analytical approaches or cannot even be defined until the problems are identified and studied, using simulation. (3) I argue that, because simulation was not accepted, there was a failure to grasp the meaning of some simulation-based studies of linkage. This may have contributed to perceived weaknesses in linkage analysis; weaknesses that did not, in fact, exist. PMID:22189467

Thinking positively: The genetics of high intelligence

PubMed Central

Shakeshaft, Nicholas G.; Trzaskowski, Maciej; McMillan, Andrew; Krapohl, Eva; Simpson, Michael A.; Reichenberg, Avi; Cederlöf, Martin; Larsson, Henrik; Lichtenstein, Paul; Plomin, Robert

2015-01-01

High intelligence (general cognitive ability) is fundamental to the human capital that drives societies in the information age. Understanding the origins of this intellectual capital is important for government policy, for neuroscience, and for genetics. For genetics, a key question is whether the genetic causes of high intelligence are qualitatively or quantitatively different from the normal distribution of intelligence. We report results from a sibling and twin study of high intelligence and its links with the normal distribution. We identified 360,000 sibling pairs and 9000 twin pairs from 3 million 18-year-old males with cognitive assessments administered as part of conscription to military service in Sweden between 1968 and 2010. We found that high intelligence is familial, heritable, and caused by the same genetic and environmental factors responsible for the normal distribution of intelligence. High intelligence is a good candidate for “positive genetics” — going beyond the negative effects of DNA sequence variation on disease and disorders to consider the positive end of the distribution of genetic effects. PMID:25593376

Population genetics of the olive-winged bulbul (Pycnonotus plumosus) in a tropical urban-fragmented landscape.

PubMed

Tang, Grace S Y; Sadanandan, Keren R; Rheindt, Frank E

2016-01-01

With increasing urbanization, urban-fragmented landscapes are becoming more and more prevalent worldwide. Such fragmentation may lead to small, isolated populations that face great threats from genetic factors that affect even avian species with high dispersal propensities. Yet few studies have investigated the population genetics of species living within urban-fragmented landscapes in the Old World tropics, in spite of the high levels of deforestation and fragmentation within this region. We investigated the evolutionary history and population genetics of the olive-winged bulbul (Pycnonotus plumosus) in Singapore, a highly urbanized island which retains <5% of its original forest cover in fragments. Combining our own collected and sequenced samples with those from the literature, we conducted phylogenetic and population genetic analyses. We revealed high genetic diversity, evidence for population expansion, and potential presence of pronounced gene flow across the population in Singapore. This suggests increased chances of long-term persistence for the olive-winged bulbul and the ecosystem services it provides within this landscape.

Current issues of personnel and laboratory practices in genetic testing

PubMed Central

Mark, Hon Fong Louie; Kelly, Thaddeus; Watson, Michael S; Hoeltge, Gerald; Miller, Wayne A; Beauregard, Laurent

1995-01-01

As genetic testing is an area with implications extending far beyond that of the primary patient, it is appropriately an area that is under increased scrutiny. To ensure that high quality is maintained in the delivery of genetic services, several agencies have developed standards and guidelines. The present article summarises important recommendations made by the American College of Medical Genetics (ACMG), the College of American Pathologists (CAP), the US Health Care Financing Administration (HCFA), and the US Food and Drug Administration (FDA) as they relate to genetic testing. Some of the standards are based on voluntary compliance, whereas others have the force of regulation. They all address issues of personnel credentials, laboratory operations, and the most critical quality assurance and control measures for diagnostic laboratories from the perspective of various agencies. In most instances, the standards promulgated by these agencies are offered as minimum criteria. The exact impact of these regulations on the practice of medical genetics has yet to be established. Images PMID:8558555

Multi-disciplinary summit on genetics services for women with gynecologic cancers: A Society of Gynecologic Oncology White Paper.

PubMed

Randall, Leslie M; Pothuri, Bhavana; Swisher, Elizabeth M; Diaz, John P; Buchanan, Adam; Witkop, Catherine T; Bethan Powell, C; Smith, Ellen Blair; Robson, Mark E; Boyd, Jeff; Coleman, Robert L; Lu, Karen

2017-08-01

To assess current practice, advise minimum standards, and identify educational gaps relevant to genetic screening, counseling, and testing of women affected by gynecologic cancers. The Society of Gynecologic Oncology (SGO) organized a multidisciplinary summit that included representatives from the American College of Obstetricians and Gynecologists (ACOG), the American Society Clinical Oncology (ASCO), the National Society of Genetic Counselors (NSGC), and patient advocacy groups, BrightPink and Facing our Risk of Cancer Empowered (FORCE). Three subject areas were discussed: care delivery models for genetic testing, barriers to genetic testing, and educational opportunities for providers of genetic testing. The group endorsed current SGO, National Comprehensive Cancer Network (NCCN), and NSGC genetic testing guidelines for women affected with ovarian, tubal, peritoneal cancers, or DNA mismatch repair deficient endometrial cancer. Three main areas of unmet need were identified: timely and universal genetic testing for women with ovarian, fallopian tube, and peritoneal cancers; education regarding minimum standards for genetic counseling and testing; and barriers to implementation of testing of both affected individuals as well as cascade testing of family members. Consensus building among all stakeholders resulted in an action plan to address gaps in education of gynecologic oncology providers and delivery of cancer genetics care. Copyright © 2017. Published by Elsevier Inc.

Direct-to-consumer DNA testing and the GP.

PubMed

Trent, Ronald

2014-07-01

From early 2000 a new form of DNA genetic testing became available commercially. It bypasses the medical practitioner and can be ordered directly by the individual. To understand direct-to-consumer (DTC) DNA genetic testing and be able to respond appropriately if asked to be involved by a patient. Presently, all but one or two DTC DNA genetic testing laboratories are located outside Australia. The industry promotes itself as a means to better health through giving individuals complete control over their results. When communicating with patients about DTC DNA genetic testing, general practitioners will need to make a determination about the clinical utility of the test and the laboratory validity, both of which can be difficult in the current environment. Assistance may be available through public hospital clinical genetics services, although waiting times can be long. There is likely to be tighter regulation of these types of testing in the future, which may include involvement of medical practitioners.

Genetically Informative Research on Adolescent Substance Use: Methods, Findings, and Challenges

ERIC Educational Resources Information Center

Lynskey, Michael T.; Agrawal, Arpana; Heath, Andrew C.

2010-01-01

Objective: To provide an overview of the genetic epidemiology of substance use and misuse in adolescents. Method: A selective review of genetically informative research strategies, their limitations, and key findings examining issues related to the heritability of substance use and substance use disorders in children and adolescents is presented.…

Characterizing dispersal patterns in a threatened seabird with limited genetic structure

Treesearch

Laurie A. Hall; Per J. Palsboll; Steven R. Beissinger; James T. Harvey; Martine Berube; Martin G. Raphael; Kim Nelson; Richard T. Golightly; Laura McFarlane-Tranquilla; Scott H. Newman; M. Zachariah Peery

2009-01-01

Genetic assignment methods provide an appealing approach for characterizing dispersal patterns on ecological time scales, but require sufficient genetic differentiation to accurately identify migrants and a large enough sample size of migrants to, for example, compare dispersal between sexes or age classes. We demonstrate that assignment methods can be rigorously used...

Genetic Risk by Experience Interaction for Childhood Internalizing Problems: Converging Evidence across Multiple Methods

ERIC Educational Resources Information Center

Vendlinski, Matthew K.; Lemery-Chalfant, Kathryn; Essex, Marilyn J.; Goldsmith, H. Hill

2011-01-01

Background: Identifying how genetic risk interacts with experience to predict psychopathology is an important step toward understanding the etiology of mental health problems. Few studies have examined genetic risk by experience interaction (GxE) in the development of childhood psychopathology. Methods: We used both co-twin and parent mental…

Estimation of genetic parameters and their sampling variances of quantitative traits in the type 2 modified augmented design

USDA-ARS?s Scientific Manuscript database

We proposed a method to estimate the error variance among non-replicated genotypes, thus to estimate the genetic parameters by using replicated controls. We derived formulas to estimate sampling variances of the genetic parameters. Computer simulation indicated that the proposed methods of estimatin...

Gene and genetic diagnostic method patent claims: a comparison under current European and US patent law

PubMed Central

Huys, Isabelle; Van Overwalle, Geertrui; Matthijs, Gert

2011-01-01

The paper focuses on the fundamental debate that is going on in Europe and the United States about whether genes and genetic diagnostic methods are to be regarded as inventions or subject matter eligible for patent protection, or whether they are discoveries or principles of nature and thus excluded from patentability. The study further explores some possible scenarios of American influences on European patent applications with respect to genetic diagnostic methods. Our analysis points out that patent eligibility for genes and genetic diagnostic methods, as discussed in the United States in the Association of Molecular Pathology versus US Patent and Trademark Office decision, is based on a different reasoning compared with the European Patent Convention. PMID:21654725

Gene and genetic diagnostic method patent claims: a comparison under current European and US patent law.

PubMed

Huys, Isabelle; Van Overwalle, Geertrui; Matthijs, Gert

2011-10-01

The paper focuses on the fundamental debate that is going on in Europe and the United States about whether genes and genetic diagnostic methods are to be regarded as inventions or subject matter eligible for patent protection, or whether they are discoveries or principles of nature and thus excluded from patentability. The study further explores some possible scenarios of American influences on European patent applications with respect to genetic diagnostic methods. Our analysis points out that patent eligibility for genes and genetic diagnostic methods, as discussed in the United States in the Association of Molecular Pathology versus US Patent and Trademark Office decision, is based on a different reasoning compared with the European Patent Convention.

Neuroimaging, Genetics, and Clinical Data Sharing in Python Using the CubicWeb Framework

PubMed Central

Grigis, Antoine; Goyard, David; Cherbonnier, Robin; Gareau, Thomas; Papadopoulos Orfanos, Dimitri; Chauvat, Nicolas; Di Mascio, Adrien; Schumann, Gunter; Spooren, Will; Murphy, Declan; Frouin, Vincent

2017-01-01

In neurosciences or psychiatry, the emergence of large multi-center population imaging studies raises numerous technological challenges. From distributed data collection, across different institutions and countries, to final data publication service, one must handle the massive, heterogeneous, and complex data from genetics, imaging, demographics, or clinical scores. These data must be both efficiently obtained and downloadable. We present a Python solution, based on the CubicWeb open-source semantic framework, aimed at building population imaging study repositories. In addition, we focus on the tools developed around this framework to overcome the challenges associated with data sharing and collaborative requirements. We describe a set of three highly adaptive web services that transform the CubicWeb framework into a (1) multi-center upload platform, (2) collaborative quality assessment platform, and (3) publication platform endowed with massive-download capabilities. Two major European projects, IMAGEN and EU-AIMS, are currently supported by the described framework. We also present a Python package that enables end users to remotely query neuroimaging, genetics, and clinical data from scripts. PMID:28360851

Neuroimaging, Genetics, and Clinical Data Sharing in Python Using the CubicWeb Framework.

PubMed

Grigis, Antoine; Goyard, David; Cherbonnier, Robin; Gareau, Thomas; Papadopoulos Orfanos, Dimitri; Chauvat, Nicolas; Di Mascio, Adrien; Schumann, Gunter; Spooren, Will; Murphy, Declan; Frouin, Vincent

2017-01-01

In neurosciences or psychiatry, the emergence of large multi-center population imaging studies raises numerous technological challenges. From distributed data collection, across different institutions and countries, to final data publication service, one must handle the massive, heterogeneous, and complex data from genetics, imaging, demographics, or clinical scores. These data must be both efficiently obtained and downloadable. We present a Python solution, based on the CubicWeb open-source semantic framework, aimed at building population imaging study repositories. In addition, we focus on the tools developed around this framework to overcome the challenges associated with data sharing and collaborative requirements. We describe a set of three highly adaptive web services that transform the CubicWeb framework into a (1) multi-center upload platform, (2) collaborative quality assessment platform, and (3) publication platform endowed with massive-download capabilities. Two major European projects, IMAGEN and EU-AIMS, are currently supported by the described framework. We also present a Python package that enables end users to remotely query neuroimaging, genetics, and clinical data from scripts.

'Only a click away - DTC genetics for ancestry, health, love…and more: A view of the business and regulatory landscape'.

PubMed

Phillips, Andelka M

2016-03-01

I provide an overview of the current state of the direct-to-consumer (DTC) genetic testing industry and the challenges that different types of testing pose for regulation. I consider the variety of services currently available. These range from health and ancestry tests to those for child talent, paternity, and infidelity. In light of the increasingly blurred lines among different categories of testing, I call for a broader discussion of DTC governance. I stress the importance of shifting our attention from the activities of the most prominent companies to viewing DTC genetics as an industry with a wide spectrum of services and raising a wide variety of issues. These issues go beyond questions of clinical utility and validity to those of data security, personal identity, race, and the nature of the family. Robust DTC testing has the power to provide meaningful clinical, genealogical and even forensic information to those who want it; in unscrupulous hands, however, it also has the power to deceive and exploit. I consider approaches to help ensure the former and minimize the latter.

Genetic Testing Registry

MedlinePlus

... Splign Vector Alignment Search Tool (VAST) All Data & Software Resources... Domains & Structures BioSystems Cn3D Conserved Domain Database (CDD) Conserved Domain Search Service (CD Search) Structure (Molecular Modeling Database) Vector Alignment ...

Eugenics and Mandatory Informed Prenatal Genetic Testing: A Unique Perspective from China.

PubMed

Zhang, Di; Ng, Vincent H; Wang, Zhaochen; Zhai, Xiaomei; Lie, Reidar K

2016-08-01

The application of genetic technologies in China, especially in the area of prenatal genetic testing, is rapidly increasing in China. In the wealthy regions of China, prenatal genetic testing is already very widely adopted. We argue that the government should actively promote prenatal genetic testing to the poor areas of the country. In fact, the government should prioritize resources first to make prenatal genetic testing a standard routine care with an opt-out model in these area. Healthcare professions would be required to inform pregnant women about the availability of genetic testing and provide free testing on a routine basis unless the parents choose not to do so. We argue that this proposal will allow parents to make a more informed decision about their reproductive choices. Secondarily, this proposal will attract more healthcare professionals and other healthcare resources to improve the healthcare infrastructures in the less-developed regions of the country. This will help to reduce the inequity of accessing healthcare services between in different regions of China. We further argue that this policy proposal is not practicing eugenics. © 2015 John Wiley & Sons Ltd.

Not all GMOs are crop plants: non-plant GMO applications in agriculture.

PubMed

Hokanson, K E; Dawson, W O; Handler, A M; Schetelig, M F; St Leger, R J

2014-12-01

Since tools of modern biotechnology have become available, the most commonly applied and often discussed genetically modified organisms are genetically modified crop plants, although genetic engineering is also being used successfully in organisms other than plants, including bacteria, fungi, insects, and viruses. Many of these organisms, as with crop plants, are being engineered for applications in agriculture, to control plant insect pests or diseases. This paper reviews the genetically modified non-plant organisms that have been the subject of permit approvals for environmental release by the United States Department of Agriculture/Animal and Plant Health Inspection Service since the US began regulating genetically modified organisms. This is an indication of the breadth and progress of research in the area of non-plant genetically modified organisms. This review includes three examples of promising research on non-plant genetically modified organisms for application in agriculture: (1) insects for insect pest control using improved vector systems; (2) fungal pathogens of insects to control insect pests; and (3) virus for use as transient-expression vectors for disease control in plants.

Method of detecting genetic translocations identified with chromosomal abnormalities

DOEpatents

Gray, Joe W.; Pinkel, Daniel; Tkachuk, Douglas

2001-01-01

Methods and compositions for staining based upon nucleic acid sequence that employ nucleic acid probes are provided. Said methods produce staining patterns that can be tailored for specific cytogenetic analyses. Said probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acid probes are typically of a complexity greater than 50 kb, the complexity depending upon the cytogenetic application. Methods and reagents are provided for the detection of genetic rearrangements. Probes and test kits are provided for use in detecting genetic rearrangements, particularly for use in tumor cytogenetics, in the detection of disease related loci, specifically cancer, such as chronic myelogenous leukemia (CML) and for biological dosimetry. Methods and reagents are described for cytogenetic research, for the differentiation of cytogenetically similar but genetically different diseases, and for many prognostic and diagnostic applications.

Method of detecting genetic deletions identified with chromosomal abnormalities

DOEpatents

Gray, Joe W; Pinkel, Daniel; Tkachuk, Douglas

2013-11-26

Methods and compositions for staining based upon nucleic acid sequence that employ nucleic acid probes are provided. Said methods produce staining patterns that can be tailored for specific cytogenetic analyzes. Said probes are appropriate for in situ hybridization and stain both interphase and metaphase chromosomal material with reliable signals. The nucleic acids probes are typically of a complexity greater tha 50 kb, the complexity depending upon the cytogenetic application. Methods and reagents are provided for the detection of genetic rearrangements. Probes and test kits are provided for use in detecting genetic rearrangements, particlularly for use in tumor cytogenetics, in the detection of disease related loci, specifically cancer, such as chronic myelogenous leukemia (CML) and for biological dosimetry. Methods and reagents are described for cytogenetic research, for the differentiation of cytogenetically similar ut genetically different diseases, and for many prognostic and diagnostic applications.

Genetic Algorithm for Initial Orbit Determination with Too Short Arc (Continued)

NASA Astrophysics Data System (ADS)

Li, Xin-ran; Wang, Xin

2017-04-01

When the genetic algorithm is used to solve the problem of too short-arc (TSA) orbit determination, due to the difference of computing process between the genetic algorithm and the classical method, the original method for outlier deletion is no longer applicable. In the genetic algorithm, the robust estimation is realized by introducing different loss functions for the fitness function, then the outlier problem of the TSA orbit determination is solved. Compared with the classical method, the genetic algorithm is greatly simplified by introducing in different loss functions. Through the comparison on the calculations of multiple loss functions, it is found that the least median square (LMS) estimation and least trimmed square (LTS) estimation can greatly improve the robustness of the TSA orbit determination, and have a high breakdown point.

Optimal Design of Passive Power Filters Based on Pseudo-parallel Genetic Algorithm

NASA Astrophysics Data System (ADS)

Li, Pei; Li, Hongbo; Gao, Nannan; Niu, Lin; Guo, Liangfeng; Pei, Ying; Zhang, Yanyan; Xu, Minmin; Chen, Kerui

2017-05-01

The economic costs together with filter efficiency are taken as targets to optimize the parameter of passive filter. Furthermore, the method of combining pseudo-parallel genetic algorithm with adaptive genetic algorithm is adopted in this paper. In the early stages pseudo-parallel genetic algorithm is introduced to increase the population diversity, and adaptive genetic algorithm is used in the late stages to reduce the workload. At the same time, the migration rate of pseudo-parallel genetic algorithm is improved to change with population diversity adaptively. Simulation results show that the filter designed by the proposed method has better filtering effect with lower economic cost, and can be used in engineering.

Dissecting the genetics of complex traits using summary association statistics.

PubMed

Pasaniuc, Bogdan; Price, Alkes L

2017-02-01

During the past decade, genome-wide association studies (GWAS) have been used to successfully identify tens of thousands of genetic variants associated with complex traits and diseases. These studies have produced extensive repositories of genetic variation and trait measurements across large numbers of individuals, providing tremendous opportunities for further analyses. However, privacy concerns and other logistical considerations often limit access to individual-level genetic data, motivating the development of methods that analyse summary association statistics. Here, we review recent progress on statistical methods that leverage summary association data to gain insights into the genetic basis of complex traits and diseases.

Dissecting the genetics of complex traits using summary association statistics

PubMed Central

Pasaniuc, Bogdan; Price, Alkes L.

2017-01-01

During the past decade, genome-wide association studies (GWAS) have successfully identified tens of thousands of genetic variants associated with complex traits and diseases. These studies have produced extensive repositories of genetic variation and trait measurements across large numbers of individuals, providing tremendous opportunities for further analyses. However, privacy concerns and other logistical considerations often limit access to individual-level genetic data, motivating the development of methods that analyze summary association statistics. Here we review recent progress on statistical methods that leverage summary association data to gain insights into the genetic basis of complex traits and diseases. PMID:27840428

Meta-analysis of heterogeneous data sources for genome-scale identification of risk genes in complex phenotypes.

PubMed

Pers, Tune H; Hansen, Niclas Tue; Lage, Kasper; Koefoed, Pernille; Dworzynski, Piotr; Miller, Martin Lee; Flint, Tracey J; Mellerup, Erling; Dam, Henrik; Andreassen, Ole A; Djurovic, Srdjan; Melle, Ingrid; Børglum, Anders D; Werge, Thomas; Purcell, Shaun; Ferreira, Manuel A; Kouskoumvekaki, Irene; Workman, Christopher T; Hansen, Torben; Mors, Ole; Brunak, Søren

2011-07-01

Meta-analyses of large-scale association studies typically proceed solely within one data type and do not exploit the potential complementarities in other sources of molecular evidence. Here, we present an approach to combine heterogeneous data from genome-wide association (GWA) studies, protein-protein interaction screens, disease similarity, linkage studies, and gene expression experiments into a multi-layered evidence network which is used to prioritize the entire protein-coding part of the genome identifying a shortlist of candidate genes. We report specifically results on bipolar disorder, a genetically complex disease where GWA studies have only been moderately successful. We validate one such candidate experimentally, YWHAH, by genotyping five variations in 640 patients and 1,377 controls. We found a significant allelic association for the rs1049583 polymorphism in YWHAH (adjusted P = 5.6e-3) with an odds ratio of 1.28 [1.12-1.48], which replicates a previous case-control study. In addition, we demonstrate our approach's general applicability by use of type 2 diabetes data sets. The method presented augments moderately powered GWA data, and represents a validated, flexible, and publicly available framework for identifying risk genes in highly polygenic diseases. The method is made available as a web service at www.cbs.dtu.dk/services/metaranker. © 2011 Wiley-Liss, Inc.

The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists

PubMed Central

Boycott, Kym; Hartley, Taila; Adam, Shelin; Bernier, Francois; Chong, Karen; Fernandez, Bridget A; Friedman, Jan M; Geraghty, Michael T; Hume, Stacey; Knoppers, Bartha M; Laberge, Anne-Marie; Majewski, Jacek; Mendoza-Londono, Roberto; Meyn, M Stephen; Michaud, Jacques L; Nelson, Tanya N; Richer, Julie; Sadikovic, Bekim; Skidmore, David L; Stockley, Tracy; Taylor, Sherry; van Karnebeek, Clara; Zawati, Ma'n H; Lauzon, Julie; Armour, Christine M

2015-01-01

Purpose and scope The aim of this Position Statement is to provide recommendations for Canadian medical geneticists, clinical laboratory geneticists, genetic counsellors and other physicians regarding the use of genome-wide sequencing of germline DNA in the context of clinical genetic diagnosis. This statement has been developed to facilitate the clinical translation and development of best practices for clinical genome-wide sequencing for genetic diagnosis of monogenic diseases in Canada; it does not address the clinical application of this technology in other fields such as molecular investigation of cancer or for population screening of healthy individuals. Methods of statement development Two multidisciplinary groups consisting of medical geneticists, clinical laboratory geneticists, genetic counsellors, ethicists, lawyers and genetic researchers were assembled to review existing literature and guidelines on genome-wide sequencing for clinical genetic diagnosis in the context of monogenic diseases, and to make recommendations relevant to the Canadian context. The statement was circulated for comment to the Canadian College of Medical Geneticists (CCMG) membership-at-large and, following incorporation of feedback, approved by the CCMG Board of Directors. The CCMG is a Canadian organisation responsible for certifying medical geneticists and clinical laboratory geneticists, and for establishing professional and ethical standards for clinical genetics services in Canada. Results and conclusions Recommendations include (1) clinical genome-wide sequencing is an appropriate approach in the diagnostic assessment of a patient for whom there is suspicion of a significant monogenic disease that is associated with a high degree of genetic heterogeneity, or where specific genetic tests have failed to provide a diagnosis; (2) until the benefits of reporting incidental findings are established, we do not endorse the intentional clinical analysis of disease-associated genes other than those linked to the primary indication; and (3) clinicians should provide genetic counselling and obtain informed consent prior to undertaking clinical genome-wide sequencing. Counselling should include discussion of the limitations of testing, likelihood and implications of diagnosis and incidental findings, and the potential need for further analysis to facilitate clinical interpretation, including studies performed in a research setting. These recommendations will be routinely re-evaluated as knowledge of diagnostic and clinical utility of clinical genome-wide sequencing improves. While the document was developed to direct practice in Canada, the applicability of the statement is broader and will be of interest to clinicians and health jurisdictions internationally. PMID:25951830

A Spatial Statistical Model for Landscape Genetics

PubMed Central

Guillot, Gilles; Estoup, Arnaud; Mortier, Frédéric; Cosson, Jean François

2005-01-01

Landscape genetics is a new discipline that aims to provide information on how landscape and environmental features influence population genetic structure. The first key step of landscape genetics is the spatial detection and location of genetic discontinuities between populations. However, efficient methods for achieving this task are lacking. In this article, we first clarify what is conceptually involved in the spatial modeling of genetic data. Then we describe a Bayesian model implemented in a Markov chain Monte Carlo scheme that allows inference of the location of such genetic discontinuities from individual geo-referenced multilocus genotypes, without a priori knowledge on populational units and limits. In this method, the global set of sampled individuals is modeled as a spatial mixture of panmictic populations, and the spatial organization of populations is modeled through the colored Voronoi tessellation. In addition to spatially locating genetic discontinuities, the method quantifies the amount of spatial dependence in the data set, estimates the number of populations in the studied area, assigns individuals to their population of origin, and detects individual migrants between populations, while taking into account uncertainty on the location of sampled individuals. The performance of the method is evaluated through the analysis of simulated data sets. Results show good performances for standard data sets (e.g., 100 individuals genotyped at 10 loci with 10 alleles per locus), with high but also low levels of population differentiation (e.g., FST < 0.05). The method is then applied to a set of 88 individuals of wolverines (Gulo gulo) sampled in the northwestern United States and genotyped at 10 microsatellites. PMID:15520263

Genetic relationship of body energy and blood metabolites with reproduction in holstein cows.

PubMed

Oikonomou, G; Arsenos, G; Valergakis, G E; Tsiaras, A; Zygoyiannis, D; Banos, G

2008-11-01

Body condition score (BCS), energy content (EC), cumulative effective energy balance (CEEB), and blood serum concentrations of glucose, beta-hydroxybutyrate (BHBA), and nonesterified fatty acids (NEFA) were measured throughout first lactation in 497 Holstein cows raised on a large commercial farm in northern Greece. All these traits are considered to be indicators of a cow's energy balance. An additional measure of BCS, EC, and blood serum glucose, BHBA, and NEFA concentrations were taken approximately 2 mo (61 +/- 23 d) before first calving. During first lactation, first service conception rate, conception rate in the first 305 d of lactation, interval from calving to conception, number of inseminations per conception, incidence of metritis, and incidence of reproductive problems of these cows were recorded; interval between first and second calving, and second lactation first service conception rate were also recorded. Random regression models were used to calculate weekly animal breeding values for first lactation BCS, EC, CEEB, glucose, BHBA, and NEFA. Single trait animal models were used to calculate breeding values for these traits measured on pregnant heifers before calving. Reproductive records were then regressed on animal breeding values for these energy balance-related traits to derive estimates of their genetic correlations. Several significant estimates were obtained. In general, traits that are known to be positively correlated with energy balance (BCS, EC, CEEB, and glucose) were found to have a favorable genetic relationship with reproduction, meaning that increased levels of the former will lead to an enhancement of the latter. On the other hand, traits known to be negatively correlated with energy balance (BHBA and NEFA) were found to have an unfavorable genetic association with reproductive traits. Body condition score, BHBA, and NEFA recorded early in lactation, and glucose concentrations measured in pregnant heifers had the highest genetic correlation with future reproductive performance. Results suggest that genetic selection for body energy and blood metabolites could facilitate the genetic improvement of fertility and overall reproductive efficiency of dairy cows.

Personal genomics services: whose genomes?

PubMed

Gurwitz, David; Bregman-Eschet, Yael

2009-07-01

New companies offering personal whole-genome information services over the internet are dynamic and highly visible players in the personal genomics field. For fees currently ranging from US$399 to US$2500 and a vial of saliva, individuals can now purchase online access to their individual genetic information regarding susceptibility to a range of chronic diseases and phenotypic traits based on a genome-wide SNP scan. Most of the companies offering such services are based in the United States, but their clients may come from nearly anywhere in the world. Although the scientific validity, clinical utility and potential future implications of such services are being hotly debated, several ethical and regulatory questions related to direct-to-consumer (DTC) marketing strategies of genetic tests have not yet received sufficient attention. For example, how can we minimize the risk of unauthorized third parties from submitting other people's DNA for testing? Another pressing question concerns the ownership of (genotypic and phenotypic) information, as well as the unclear legal status of customers regarding their own personal information. Current legislation in the US and Europe falls short of providing clear answers to these questions. Until the regulation of personal genomics services catches up with the technology, we call upon commercial providers to self-regulate and coordinate their activities to minimize potential risks to individual privacy. We also point out some specific steps, along the trustee model, that providers of DTC personal genomics services as well as regulators and policy makers could consider for addressing some of the concerns raised below.

GMDD: a database of GMO detection methods

PubMed Central

Dong, Wei; Yang, Litao; Shen, Kailin; Kim, Banghyun; Kleter, Gijs A; Marvin, Hans JP; Guo, Rong; Liang, Wanqi; Zhang, Dabing

2008-01-01

Background Since more than one hundred events of genetically modified organisms (GMOs) have been developed and approved for commercialization in global area, the GMO analysis methods are essential for the enforcement of GMO labelling regulations. Protein and nucleic acid-based detection techniques have been developed and utilized for GMOs identification and quantification. However, the information for harmonization and standardization of GMO analysis methods at global level is needed. Results GMO Detection method Database (GMDD) has collected almost all the previous developed and reported GMOs detection methods, which have been grouped by different strategies (screen-, gene-, construct-, and event-specific), and also provide a user-friendly search service of the detection methods by GMO event name, exogenous gene, or protein information, etc. In this database, users can obtain the sequences of exogenous integration, which will facilitate PCR primers and probes design. Also the information on endogenous genes, certified reference materials, reference molecules, and the validation status of developed methods is included in this database. Furthermore, registered users can also submit new detection methods and sequences to this database, and the newly submitted information will be released soon after being checked. Conclusion GMDD contains comprehensive information of GMO detection methods. The database will make the GMOs analysis much easier. PMID:18522755

Primordial Dwarfism

MedlinePlus

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Certificates of confidentiality: a valuable tool for protecting genetic data.

PubMed

Earley, C L; Strong, L C

1995-09-01

Protecting the confidentiality of genetic research data is an important aspect of genetic research that has been discussed in various forums. Research data must be protected to prevent discrimination and its use in litigation. The certificate of confidentiality was created to protect the subjects of alcohol- and drug-abuse studies, who may be engaging in illegal activities. As revised in 1988, the certificate protects investigators engaging in other kinds of studies from being compelled to reveal information about subjects. Because the certificate protects information that could damage a subject's financial or social standing or employability, it is an appropriate tool to use to maintain the confidentiality of genetic data. The Department of Health and Human Services issues the certificates; the procedure for applying for a certificate of confidentiality is presented.

Astrophysical data mining with GPU. A case study: Genetic classification of globular clusters

NASA Astrophysics Data System (ADS)

Cavuoti, S.; Garofalo, M.; Brescia, M.; Paolillo, M.; Pescape', A.; Longo, G.; Ventre, G.

2014-01-01

We present a multi-purpose genetic algorithm, designed and implemented with GPGPU/CUDA parallel computing technology. The model was derived from our CPU serial implementation, named GAME (Genetic Algorithm Model Experiment). It was successfully tested and validated on the detection of candidate Globular Clusters in deep, wide-field, single band HST images. The GPU version of GAME will be made available to the community by integrating it into the web application DAMEWARE (DAta Mining Web Application REsource, http://dame.dsf.unina.it/beta_info.html), a public data mining service specialized on massive astrophysical data. Since genetic algorithms are inherently parallel, the GPGPU computing paradigm leads to a speedup of a factor of 200× in the training phase with respect to the CPU based version.

Integrating multiple genomic data to predict disease-causing nonsynonymous single nucleotide variants in exome sequencing studies.

PubMed

Wu, Jiaxin; Li, Yanda; Jiang, Rui

2014-03-01

Exome sequencing has been widely used in detecting pathogenic nonsynonymous single nucleotide variants (SNVs) for human inherited diseases. However, traditional statistical genetics methods are ineffective in analyzing exome sequencing data, due to such facts as the large number of sequenced variants, the presence of non-negligible fraction of pathogenic rare variants or de novo mutations, and the limited size of affected and normal populations. Indeed, prevalent applications of exome sequencing have been appealing for an effective computational method for identifying causative nonsynonymous SNVs from a large number of sequenced variants. Here, we propose a bioinformatics approach called SPRING (Snv PRioritization via the INtegration of Genomic data) for identifying pathogenic nonsynonymous SNVs for a given query disease. Based on six functional effect scores calculated by existing methods (SIFT, PolyPhen2, LRT, MutationTaster, GERP and PhyloP) and five association scores derived from a variety of genomic data sources (gene ontology, protein-protein interactions, protein sequences, protein domain annotations and gene pathway annotations), SPRING calculates the statistical significance that an SNV is causative for a query disease and hence provides a means of prioritizing candidate SNVs. With a series of comprehensive validation experiments, we demonstrate that SPRING is valid for diseases whose genetic bases are either partly known or completely unknown and effective for diseases with a variety of inheritance styles. In applications of our method to real exome sequencing data sets, we show the capability of SPRING in detecting causative de novo mutations for autism, epileptic encephalopathies and intellectual disability. We further provide an online service, the standalone software and genome-wide predictions of causative SNVs for 5,080 diseases at http://bioinfo.au.tsinghua.edu.cn/spring.

Validation of the ANSR Salmonella method for detection of Salmonella spp. in selected foods and environmental samples.

PubMed

Mozola, Mark; Norton, Paul; Alles, Susan; Gray, R Lucas; Tolan, Jerry; Caballero, Oscar; Pinkava, Lisa; Hosking, Edan; Luplow, Karen; Rice, Jennifer

2013-01-01

ANSR Salmonella is a new molecular diagnostic assay for detection of Salmonella spp. in foods and environmental samples. The test is based on the nicking enzyme amplification reaction (NEAR) isothermal nucleic acid amplification technology. The assay platform features simple instrumentation, minimal labor, and, following a single-step 10-24 h enrichment (depending on sample type), an extremely short assay time of 30 min, including sample preparation. Detection is real-time using fluorescent molecular beacon probes. Inclusivity testing was performed using a panel of 113 strains of S. enterica and S. bongori, representing 109 serovars and all genetic subgroups. With the single exception of the rare serovar S. Weslaco, all serovars and genetic subgroups were detected. Exclusivity testing of 38 non-salmonellae, mostly Enterobacteriaceae, yielded no evidence of cross-reactivity. In comparative testing of chicken carcass rinse, raw ground turkey, raw ground beef, hot dogs, and oat cereal, there were no statistically significant differences in the number of positive results obtained with the ANSR and the U.S. Department of Agriculture-Food Safety and Inspection Service or U.S. Food and Drug Administration/Bacteriological Analytical Manual reference culture methods. In testing of swab or sponge samples from five different environmental surfaces, four trials showed no statistically significant differences in the number of positive results by the ANSR and the U.S. Food and Drug Administration/ Bacteriological Analytical Manual reference methods; in the trial with stainless steel surface, there were significantly more positive results by the ANSR method. Ruggedness experiments showed a high degree of assay robustness when deviations in reagent volumes and incubation times were introduced.

Stochastic search in structural optimization - Genetic algorithms and simulated annealing

NASA Technical Reports Server (NTRS)

Hajela, Prabhat

1993-01-01

An account is given of illustrative applications of genetic algorithms and simulated annealing methods in structural optimization. The advantages of such stochastic search methods over traditional mathematical programming strategies are emphasized; it is noted that these methods offer a significantly higher probability of locating the global optimum in a multimodal design space. Both genetic-search and simulated annealing can be effectively used in problems with a mix of continuous, discrete, and integer design variables.

Revealing barriers and facilitators to use a new genetic test: comparison of three user involvement methods.

PubMed

Rhebergen, Martijn D F; Visser, Maaike J; Verberk, Maarten M; Lenderink, Annet F; van Dijk, Frank J H; Kezic, Sanja; Hulshof, Carel T J

2012-10-01

We compared three common user involvement methods in revealing barriers and facilitators from intended users that might influence their use of a new genetic test. The study was part of the development of a new genetic test on the susceptibility to hand eczema for nurses. Eighty student nurses participated in five focus groups (n = 33), 15 interviews (n = 15) or questionnaires (n = 32). For each method, data were collected until saturation. We compared the mean number of items and relevant remarks that could influence the use of the genetic test obtained per method, divided by the number of participants in that method. Thematic content analysis was performed using MAXQDA software. The focus groups revealed 30 unique items compared to 29 in the interviews and 21 in the questionnaires. The interviews produced more items and relevant remarks per participant (1.9 and 8.4 pp) than focus groups (0.9 and 4.8 pp) or questionnaires (0.7 and 2.3 pp). All three involvement methods revealed relevant barriers and facilitators to use a new genetic test. Focus groups and interviews revealed substantially more items than questionnaires. Furthermore, this study suggests a preference for the use of interviews because the number of items per participant was higher than for focus groups and questionnaires. This conclusion may be valid for other genetic tests as well.

Visualizing spatial population structure with estimated effective migration surfaces

PubMed Central

Petkova, Desislava; Novembre, John; Stephens, Matthew

2015-01-01

Genetic data often exhibit patterns broadly consistent with “isolation by distance” – a phenomenon where genetic similarity decays with geographic distance. In a heterogeneous habitat this may occur more quickly in some regions than others: for example, barriers to gene flow can accelerate differentiation between neighboring groups. We use the concept of “effective migration” to model the relationship between genetics and geography: in this paradigm, effective migration is low in regions where genetic similarity decays quickly. We present a method to visualize variation in effective migration across the habitat from geographically indexed genetic data. Our approach uses a population genetic model to relate effective migration rates to expected genetic dissimilarities. We illustrate its potential and limitations using simulations and data from elephant, human and A. thaliana populations. The resulting visualizations highlight important spatial features of population structure that are difficult to discern using existing methods for summarizing genetic variation. PMID:26642242

The Evolution of Genetics: Alzheimer's and Parkinson's Diseases.

PubMed

Singleton, Andrew; Hardy, John

2016-06-15

Genetic discoveries underlie the majority of the current thinking in neurodegenerative disease. This work has been driven by the significant gains made in identifying causal mutations; however, the translation of genetic causes of disease into pathobiological understanding remains a challenge. The application of a second generation of genetics methods allows the dissection of moderate and mild genetic risk factors for disease. This requires new thinking in two key areas: what constitutes proof of pathogenicity, and how do we translate these findings to biological understanding. Here we describe the progress and ongoing evolution in genetics. We describe a view that rejects the tradition that genetic proof has to be absolute before functional characterization and centers on a multi-dimensional approach integrating genetics, reference data, and functional work. We also argue that these challenges cannot be efficiently met by traditional hypothesis-driven methods but that high content system-wide efforts are required. Published by Elsevier Inc.

All Our Babies Cohort Study: recruitment of a cohort to predict women at risk of preterm birth through the examination of gene expression profiles and the environment

PubMed Central

2010-01-01

Background Preterm birth is the leading cause of perinatal morbidity and mortality. Risk factors for preterm birth include a personal or familial history of preterm delivery, ethnicity and low socioeconomic status yet the ability to predict preterm delivery before the onset of preterm labour evades clinical practice. Evidence suggests that genetics may play a role in the multi-factorial pathophysiology of preterm birth. The All Our Babies Study is an on-going community based longitudinal cohort study that was designed to establish a cohort of women to investigate how a women's genetics and environment contribute to the pathophysiology of preterm birth. Specifically this study will examine the predictive potential of maternal leukocytes for predicting preterm birth in non-labouring women through the examination of gene expression profiles and gene-environment interactions. Methods/Design Collaborations have been established between clinical lab services, the provincial health service provider and researchers to create an interdisciplinary study design for the All Our Babies Study. A birth cohort of 2000 women has been established to address this research question. Women provide informed consent for blood sample collection, linkage to medical records and complete questionnaires related to prenatal health, service utilization, social support, emotional and physical health, demographics, and breast and infant feeding. Maternal blood samples are collected in PAXgene™ RNA tubes between 18-22 and 28-32 weeks gestation for transcriptomic analyses. Discussion The All Our Babies Study is an example of how investment in clinical-academic-community partnerships can improve research efficiency and accelerate the recruitment and data collection phases of a study. Establishing these partnerships during the study design phase and maintaining these relationships through the duration of the study provides the unique opportunity to investigate the multi-causal factors of preterm birth. The overall All Our Babies Study results can potentially lead to healthier pregnancies, mothers, infants and children. PMID:21192811

Drifting to oblivion? Rapid genetic differentiation in an endangered lizard following habitat fragmentation and drought

USGS Publications Warehouse

Vandergast, Amy; Wood, Dustin A.; Thompson, Andrew R.; Fisher, Mark; Barrows, Cameron W.; Grant, Tyler J.

2016-01-01

Aim The frequency and severity of habitat alterations and disturbance are predicted to increase in upcoming decades, and understanding how disturbance affects population integrity is paramount for adaptive management. Although rarely is population genetic sampling conducted at multiple time points, pre- and post-disturbance comparisons may provide one of the clearest methods to measure these impacts. We examined how genetic properties of the federally threatened Coachella Valley fringe-toed lizard (Uma inornata) responded to severe drought and habitat fragmentation across its range. Location Coachella Valley, California, USA. Methods We used 11 microsatellites to examine population genetic structure and diversity in 1996 and 2008, before and after a historic drought. We used Bayesian assignment methods and F-statistics to estimate genetic structure. We compared allelic richness across years to measure loss of genetic diversity and employed approximate Bayesian computing methods and heterozygote excess tests to explore the recent demographic history of populations. Finally, we compared effective population size across years and to abundance estimates to determine whether diversity remained low despite post-drought recovery. Results Genetic structure increased between sampling periods, likely as a result of population declines during the historic drought of the late 1990s–early 2000s, and habitat loss and fragmentation that precluded post-drought genetic rescue. Simulations supported recent demographic declines in 3 of 4 main preserves, and in one preserve, we detected significant loss of allelic richness. Effective population sizes were generally low across the range, with estimates ≤100 in most sites. Main conclusions Fragmentation and drought appear to have acted synergistically to induce genetic change over a short time frame. Progressive deterioration of connectivity, low Ne and measurable loss of genetic diversity suggest that conservation efforts have not maintained the genetic integrity of this species. Genetic sampling over time can help evaluate population trends to guide management.

Genetic sequencing for surveillance of drug resistance in tuberculosis in highly endemic countries: a multi-country population-based surveillance study.

PubMed

Zignol, Matteo; Cabibbe, Andrea Maurizio; Dean, Anna S; Glaziou, Philippe; Alikhanova, Natavan; Ama, Cecilia; Andres, Sönke; Barbova, Anna; Borbe-Reyes, Angeli; Chin, Daniel P; Cirillo, Daniela Maria; Colvin, Charlotte; Dadu, Andrei; Dreyer, Andries; Driesen, Michèle; Gilpin, Christopher; Hasan, Rumina; Hasan, Zahra; Hoffner, Sven; Hussain, Alamdar; Ismail, Nazir; Kamal, S M Mostofa; Khanzada, Faisal Masood; Kimerling, Michael; Kohl, Thomas Andreas; Mansjö, Mikael; Miotto, Paolo; Mukadi, Ya Diul; Mvusi, Lindiwe; Niemann, Stefan; Omar, Shaheed V; Rigouts, Leen; Schito, Marco; Sela, Ivita; Seyfaddinova, Mehriban; Skenders, Girts; Skrahina, Alena; Tahseen, Sabira; Wells, William A; Zhurilo, Alexander; Weyer, Karin; Floyd, Katherine; Raviglione, Mario C

2018-06-01

In many countries, regular monitoring of the emergence of resistance to anti-tuberculosis drugs is hampered by the limitations of phenotypic testing for drug susceptibility. We therefore evaluated the use of genetic sequencing for surveillance of drug resistance in tuberculosis. Population-level surveys were done in hospitals and clinics in seven countries (Azerbaijan, Bangladesh, Belarus, Pakistan, Philippines, South Africa, and Ukraine) to evaluate the use of genetic sequencing to estimate the resistance of Mycobacterium tuberculosis isolates to rifampicin, isoniazid, ofloxacin, moxifloxacin, pyrazinamide, kanamycin, amikacin, and capreomycin. For each drug, we assessed the accuracy of genetic sequencing by a comparison of the adjusted prevalence of resistance, measured by genetic sequencing, with the true prevalence of resistance, determined by phenotypic testing. Isolates were taken from 7094 patients with tuberculosis who were enrolled in the study between November, 2009, and May, 2014. In all tuberculosis cases, the overall pooled sensitivity values for predicting resistance by genetic sequencing were 91% (95% CI 87-94) for rpoB (rifampicin resistance), 86% (74-93) for katG, inhA, and fabG promoter combined (isoniazid resistance), 54% (39-68) for pncA (pyrazinamide resistance), 85% (77-91) for gyrA and gyrB combined (ofloxacin resistance), and 88% (81-92) for gyrA and gyrB combined (moxifloxacin resistance). For nearly all drugs and in most settings, there was a large overlap in the estimated prevalence of drug resistance by genetic sequencing and the estimated prevalence by phenotypic testing. Genetic sequencing can be a valuable tool for surveillance of drug resistance, providing new opportunities to monitor drug resistance in tuberculosis in resource-poor countries. Before its widespread adoption for surveillance purposes, there is a need to standardise DNA extraction methods, recording and reporting nomenclature, and data interpretation. Bill & Melinda Gates Foundation, United States Agency for International Development, Global Alliance for Tuberculosis Drug Development. © 2018 World Health Organization; licensee Elsevier. This is an Open Access article published under the CC BY 3.0 IGO license, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. In any use of this article, there should be no suggestion that WHO endorses any specific organisation, products or services. The use of the WHO logo is not permitted. This notice should be preserved along with the article's original URL.