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Sample records for accurate genetic counseling

  1. Genetic Counseling

    MedlinePlus

    ... Articles Genetic Counseling Information For... Media Policy Makers Genetic Counseling Language: English Español (Spanish) Recommend on Facebook ... informed decisions about testing and treatment. Reasons for Genetic Counseling There are many reasons that people go ...

  2. Genetic counseling

    MedlinePlus

    ... this page: //medlineplus.gov/ency/patientinstructions/000510.htm Genetic counseling To use the sharing features on this ... cystic fibrosis or Down syndrome. Who May Want Genetic Counseling? It is up to you whether or ...

  3. Genetic counseling

    MedlinePlus

    Genetics is the study of heredity, the process of a parent passing certain genes on to their ... certain diseases are also often determined by genes. Genetic counseling is the process where parents can learn ...

  4. Genetic counseling.

    PubMed

    Fraser, F C

    1974-09-01

    A workshop was sponsored by the National Genetics Foundation to evaluate and make recommendations about the status of genetic counseling, its goals, nature, achievements, and needs. The process of genetic workup and counseling is divided into 5 stages: validation of the diagnosis; obtaining family history; estimation of the risk of recurrence; helping the family make a decision and take appropriate action; and extending counseling to other members of the family. Counseling can be directed at individuals or at special groups with the potential of carrying such diseases as sickle cell amenia or Tay-Sachs. No consensus exists on an optimal counseling approach. Genetic counseling is regarded as a team effort, requiring, in addition to the counselor, laboratory facilities and a variety of specialists. The source of payment for genetic counseling services is regarded as a problem of increasing concern. Generally, the fee paid rarely covers the cost of the many procedures and it is suggested that the cost, like that of other public health services, should be subsidized by the state. Considerable argument exists over whether a genetic counselor must have a M.D. degree or whether a Ph. D. in medical genetics is suitable enough. The quality of much genetic counseling, which is often done in the office of doctors unskilled in the field, would be increased if better training in genetics were offered to medical students and if physicians were informed of the existence of counseling centers. Further, there is a growing feeling that some sort of accreditation of genetic counselors is desirable. PMID:4609197

  5. Prenatal Genetic Counseling (For Parents)

    MedlinePlus

    ... 5 Things to Know About Zika & Pregnancy Prenatal Genetic Counseling KidsHealth > For Parents > Prenatal Genetic Counseling Print ... how can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating ...

  6. MedlinePlus: Genetic Counseling

    MedlinePlus

    ... Here Frequently Asked Questions about Genetic Counseling (National Human Genome Research Institute) Genetic Counseling (Centers for Disease Control and Prevention) Genetic Counseling (March of Dimes Birth Defects Foundation) Also in Spanish Making Sense of ...

  7. Genetic counseling and the pediatrician.

    PubMed

    Bartsocas, C S

    1978-01-01

    The assistance of the pediatrician, following diagnosis of a child with a genetic disorder, towards his family consists today in giving genetic counseling for prevention of recurrence in future pregnancies. The process of genetic counseling, once the right diagnosis is made, should not be difficult as concerns Mendelian inheritance. It is well known that several chromosomal disorders follow the rules of Mendelian inheritance. The theory of polygenic or multifactorial inheritance may create problems in the accurate estimation of risks. An effort is made to discover the mechanisms of genetic "predisposition" or the adverse environmental factors, in order to minimize the occurrence of such disorders. An important tool in prevention of several genetic disorders, which should be mentioned in genetic counseling, is prenatal diagnosis. PMID:155240

  8. [Genetics and genetic counseling].

    PubMed

    Izzi, Claudia; Liut, Francesca; Dallera, Nadia; Mazza, Cinzia; Magistroni, Riccardo; Savoldi, Gianfranco; Scolari, Francesco

    2016-01-01

    Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most frequent genetic disease, characterized by progressive development of bilateral renal cysts. Two causative genes have been identified: PKD1 and PKD2. ADPKD phenotype is highly variable. Typically, ADPKD is an adult onset disease. However, occasionally, ADPKD manifests as very early onset disease. The phenotypic variability of ADPKD can be explained at three genetic levels: genic, allelic and gene modifier effects. Recent advances in molecular screening for PKD gene mutations and the introduction of the new next generation sequencing (NGS)- based genotyping approach have generated considerable improvement regarding the knowledge of genetic basis of ADPKD. The purpose of this article is to provide a comprehensive review of the genetics of ADPKD, focusing on new insights in genotype-phenotype correlation and exploring novel clinical approach to genetic testing. Evaluation of these new genetic information requires a multidisciplinary approach involving a nephrologist and a clinical geneticist. PMID:27067213

  9. Genetic counseling: a transnational perspective.

    PubMed

    Elackatt, Niby J

    2013-12-01

    Although the basic goal and components of genetic counseling appears to be the same across the globe, judged by my experiences there are significant differences in the provision of genetic counseling services in Australasia (Australia and New Zealand) and India. There is poor recognition of the professional status of a genetic counselor in India at present. This may be partly because genetic counseling itself is a relatively new discipline within the medical field in India, although some types of genetic services and research have been conducted since 1960s. In this paper, I aim to provide insight from my personal transnational experiences. PMID:23677536

  10. Genetic Counseling as an Educational Process.

    ERIC Educational Resources Information Center

    Eddy, James M.; St. Pierre, Richard

    Historically genetic counseling programs have not included strong educational components or sound educational foundations. This paper deals with some of the drawbacks of current genetic counseling programs and the implications for education in the genetic counseling process. The author adopts a broad definition of genetic counseling which…

  11. Medical genetics and genetic counseling in Chile.

    PubMed

    Margarit, Sonia B; Alvarado, Mónica; Alvarez, Karin; Lay-Son, Guillermo

    2013-12-01

    In the South American Republic of Chile genetic counseling is not currently recognized as an independent clinical discipline, and in general is provided by physicians with training in clinical genetics. At present only one genetic counselor and 28 clinical geneticists practice in this country of over 16 million inhabitants. Pediatric dysmorphology constitutes the primary area of practice in clinical genetics. Although the country has a universal health care system and an adequate level of health care, genetic conditions are not considered a health care priority and there is a lack of clinical and laboratory resources designated for clinical genetics services. Multiple educational, cultural and financial barriers exist to the growth and development of genetic counseling services in Chile. However, during the last 10 years increased awareness of the importance of identifying individuals at risk for inherited cancer syndromes led to growing interest in the practice of cancer genetics. PMID:23744184

  12. Genetic Counseling for Congenital Heart Defects

    MedlinePlus

    ... Pressure High Blood Pressure Tools & Resources Stroke More Genetic Counseling for Congenital Heart Defects Updated:Oct 26, ... person with congenital heart disease considers having children. Genetic counseling can help answer these questions and address ...

  13. Family Assessment and Genetic Counseling.

    ERIC Educational Resources Information Center

    Carpenter, Pat; And Others

    Presented are two papers from a panel discussion on prenatal diagnosis and genetic counseling with families. D. Blackston (director of the Developmental Evaluation Clinic, Decatur, Georgia) points out that a concise family history, pregnancy and birth data, developmental history, careful physical examination, and appropriate laboratory studies are…

  14. Genetic testing: practical, ethical, and counseling considerations.

    PubMed

    Ensenauer, Regina E; Michels, Virginia V; Reinke, Shanda S

    2005-01-01

    Genetic testing is becoming a much more common practice in medicine today. This presents a unique set of challenges for medical professionals in virtually all specialties. The practical aspects of determining which test to order, and in interpreting the result accurately in the context of the family history, can be difficult. Additionally, the ethical conundrums that frequently present themselves when genetic risk assessment and/or genetic testing is being considered can be daunting. These challenges present real concerns for medical professionals and patients alike. Included in this article is a review of some of the practical and ethical complexities associated with genetic testing. Pretest and posttest genetic counseling is also emphasized as an important and essential process in today's medical practice. PMID:15667031

  15. Experience with genetic counseling: the adolescent perspective.

    PubMed

    Pichini, Amanda; Shuman, Cheryl; Sappleton, Karen; Kaufman, Miriam; Chitayat, David; Babul-Hirji, Riyana

    2016-06-01

    Adolescence is a complex period of development that involves creating a sense of identity, autonomy, relationships and values. This stage of adjustment can be complicated by having a genetic condition. Genetic counseling can play an important role in providing information and support to this patient population; however, resources and guidelines are currently limited. In order to appropriately establish genetic counseling approaches and resource development, we investigated the experiences and perspectives of adolescents with a genetic condition with respect to their genetic counseling interactions. Using a qualitative exploratory approach, eleven semi-structured interviews were conducted with adolescents diagnosed with a genetic condition who received genetic counseling between the ages of 12 and 18 years at The Hospital for Sick Children. Transcripts were analyzed thematically using qualitative content analysis, from which three major interrelated themes emerged: 1) understanding the genetic counselor's role; 2) increasing perceived personal control; and 3) adolescent-specific factors influencing adaptation to one's condition. Additionally, a list of suggested tools and strategies for genetic counseling practice were elucidated. Our findings can contribute to the development of an adolescent-focused framework to enhance emerging genetic counseling approaches for this patient population, and can also facilitate the transition process from pediatric to adult care within patient and family-centered contexts. PMID:26573304

  16. Making Sense of Your Genes: A Guide to Genetic Counseling

    MedlinePlus

    Making Sense of Your Genes a Guide to Genetic Counseling 1 A Guide to Genetic Counseling Contents What is genetic counseling? 1 Why might I ... methods contained in the material therein. Understanding Your Genes What is genetic counseling? The goal of genetic ...

  17. [Pediatric neurological disorders and genetic counseling].

    PubMed

    Fukushima, Yoshimitsu

    2003-07-01

    Genetic counseling provides medical and genetic information of the disease including its natural history, recurrence risk, availability and usefulness of genetic testing, as well as psycho-social support. In the field of pediatric neurology, the majority of genetic counseling seems to be a simple risk estimation of the next child and unrelated to ethical issues. However, in some cases requiring prenatal diagnosis or presymptomatic testing, we have to address serious ethical issues. Genetic counseling should be provided by an educated medical doctor at a suitable genetics clinic. In Japan, we have "Japanese Board of Medical Genetics, Clinical Geneticist" as an education system of clinical genetics for medical doctors. Pediatric neurologists should know the special issues of genetic information and contact with clinical geneticists in selected cases. PMID:12875203

  18. Genetic Counseling: Implications for Community Counselors.

    ERIC Educational Resources Information Center

    Bodenhorn, Nancy; Lawson, Gerard

    2003-01-01

    Special issue of the "Journal of Health Psychology" (Vol. 7, No. 2, 2002) was reviewed. Articles covered a variety of qualitative studies conducted using an interpretive phenomenological analysis method to examine the interviews with people who had received genetic testing and counseling. Implications for the broader counseling field were also…

  19. Suicide prevention in the genetic counseling context.

    PubMed

    Peters, J A

    1994-09-01

    Utilizing a case report, this paper explores psychosocial aspects of suicidal intent in a woman seeking prenatal diagnosis. Using knowledge and practice of appropriate assessment, referral, and intervention procedures, the therapy team of genetic counselor and psychotherapist facilitated successful identification and management of this potentially suicidal client. The main counseling goals for the genetic counselor are to assess the situation adequately, decrease the immediate danger, and, with supervision and/or consultation, stabilize the seriously suicidal person until that individual can be triaged to mental health or medical professionals for treatment. The prevalence of suicide issues in genetic counseling contexts is unknown and reports mentioning suicidal ideation unusual in the genetic counseling literature. Is this reported case a rarity among genetic counseling referrals? Systematically collected information on the prevalence and resolution of suicidal issues in genetic counseling contexts would be helpful for those setting curricula for genetic counseling training programs, standards for professional certification exams, and policy and procedures manuals for clinical units. PMID:24234007

  20. Genetic counseling and prenatal diagnosis (image)

    MedlinePlus

    Genetic counseling (and prenatal diagnosis) provides parents with the knowledge to make intelligent, informed decisions regarding possible pregnancy and its outcome. If a pregnancy occurs the couple may want to evaluate the ...

  1. The Place of Genetic Counselling in Adoption.

    ERIC Educational Resources Information Center

    Hockey, Athel; Bain, Jill

    1982-01-01

    An approach combining social worker and geneticist expertise in adoption is outlined in the study involving 180 families. Genetic counseling has shown to be an essential safeguard to the preservation of the adoptive family unit. (Author/SW)

  2. Genetic Counseling Milestones: A Framework for Student Competency Evaluation.

    PubMed

    Guy, Carrie

    2016-08-01

    Graduate medical education has recently increased focus on the development of medical specialty competency milestones to provide a targeted tool for medical resident evaluation. Milestones provide developmental assessment of the attainment of competencies over the course of an educational program. An educational framework is described to explore the development of Genetic Counseling Milestones for the evaluation of the development of genetic counseling competencies by genetic counseling students. The development of Genetic Counseling Milestones may provide a valuable tool to assess genetic counseling students across all program activities. Historical educational context, current practices, and potential benefits and challenges in the development of Genetic Counseling Milestones are discussed. PMID:26462934

  3. Genetic Counseling and Evaluation for BRCA1/2 Testing

    MedlinePlus

    ... Talking to Family Family Stories Diseases Genomic Resources Genetic Counseling for Hereditary Breast and Ovarian Cancer Recommend ... inherited mutation, your doctor may refer you for genetic counseling. Understanding and dealing with a strong family ...

  4. Genetic Counseling in Mental Retardation.

    ERIC Educational Resources Information Center

    Bowen, Peter

    The task of the genetic counselor who identifies genetic causes of mental retardation and assists families to understand risk of recurrence is described. Considered are chromosomal genetic disorders such as Down's syndrome, inherited disorders such as Tay-Sachs disease, identification by testing the amniotic fluid cells (amniocentresis) in time…

  5. Religious Traditions and Prenatal Genetic Counseling

    PubMed Central

    Anderson, Rebecca Rae

    2009-01-01

    Members of organized religious groups may look to their faith traditions for guidance regarding the moral implications of prenatal diagnosis and intervention. Many denominations have doctrinal statements relevant to these deliberations. In this paper, common spiritual issues arising in the genetic counseling encounter are described. Representative doctrinal positions, derived from the responses of 31 U.S. religious denominations to a survey relating to prenatal genetic counseling, are given. Because the long-term adjustment of patients may be dependent in part on their ability to reconcile their actions with their faith traditions, genetic counselors best serve their patients when they invite discussion of matters of faith. Unless invited, patients may assume these topics are ‘off limits’ or that care providers are indifferent to their beliefs. Although genetics professionals ought not assume the role of spiritual advisor, a working knowledge of doctrinal approaches should help counselors frame the issues, and avoid missteps. PMID:19170093

  6. Genetic Counselling: Information Given, Recall and Satisfaction.

    ERIC Educational Resources Information Center

    Michie, Susan; McDonald, Valerie; Marteau, Theresa M.

    1997-01-01

    A questionnaire was sent to counselors (N=32) to categorize the key points given in genetic counseling; to assess the amount and type of information recalled; and to examine the relationships between counselees' knowledge, satisfaction with information received, the meeting of expectations, concern, and anxiety. Results emphasize the importance of…

  7. Genetic counselling in tribals in India

    PubMed Central

    Mohanty, Dipika; Das, Kishalaya

    2011-01-01

    Genetic counselling in tribals unlike general population residing in cities and near villages is a difficult task due of their lower literacy and poor socio-economic status. However, sustained effort is essential with a close interaction in the local language, certain misbeliefs need to be removed gradually taking into account their socio-cultural background. The present communication deals with our experience in counselling for haemoglobinopathies during Neonatal Screening Programme undertaken for sickle cell disease in Kalahandi district of Orissa and Community Screening Programmes in primitive tribes of India in four States viz. Orissa, Gujarat, Tamil Nadu and Maharashtra. Counselling during neonatal screening programme was very well accepted demonstrating the benefit to the small babies as regards the morbidity. Premarital marriage counselling was also accepted by them. The success rate as followed up for 5 years is almost 50 per cent, the limitation being long follow up. Genetic counselling in these areas has to be continuous to achieve success and therefore the need for setting up of permanent centres in the tribal areas in India. PMID:22089621

  8. Perceptions of Latinas on the Traditional Prenatal Genetic Counseling Model.

    PubMed

    Thompson, Stephanie; Noblin, Sarah Jane; Lemons, Jennifer; Peterson, Susan K; Carreno, Carlos; Harbison, Andrea

    2015-08-01

    The traditional genetic counseling model encompasses an individualized counseling session that includes the presentation of information about genes, chromosomes, personalized risk assessment, and genetic testing and screening options. Counselors are challenged to balance the provision of enough basic genetic information to ensure clients' understanding of the genetic condition in question with a personalized discussion of what this information means to them. This study explored the perceptions Latinas have about prenatal genetic counseling sessions and aimed to determine if they had preferences about the delivery of care. Data were collected through focus groups and one-on-one, semi-structured interviews of 25 Spanish speaking Latinas who received genetic counseling during their current pregnancy. We implemented grounded theory to evaluate participant responses, and were able to identify common emergent themes. Several themes were identified including an overall satisfaction with their prenatal genetic counseling appointment, desire for a healthy baby, peace of mind following their appointment, lack of desire for invasive testing, and faith in God. Several participants stated a preference for group genetic counseling over the traditional individual genetic counseling model. Our data indicate that Latinas value the information presented at prenatal genetic counseling appointments despite disinterest in pursuing genetic testing or screening and suggest that group prenatal genetic counseling may be an effective alternative to the traditional genetic counseling model in the Latina population. PMID:25475921

  9. Genetic Information, Non-Discrimination, and Privacy Protections in Genetic Counseling Practice

    PubMed Central

    Prince, Anya E.R.; Roche, Myra I.

    2014-01-01

    The passage of the Genetic Information Non Discrimination Act (GINA) was hailed as a pivotal achievement that was expected to calm the fears of both patients and research participants about the potential misuse of genetic information. However, six years later, patient and provider awareness of legal protections at both the federal and state level remains discouragingly low, thereby, limiting their potential effectiveness. The increasing demand for genetic testing will expand the number of individuals and families who could benefit from obtaining accurate information about the privacy and anti-discriminatory protections that GINA and other laws extend. In this paper we describe legal protections that are applicable to individuals seeking genetic counseling, review the literature on patient and provider fears of genetic discrimination and examine their awareness and understandings of existing laws, and summarize how genetic counselors currently discuss genetic discrimination. We then present three genetic counseling cases to illustrate issues of genetic discrimination and provide relevant information on applicable legal protections. Genetic counselors have an unprecedented opportunity, as well as the professional responsibility, to disseminate accurate knowledge about existing legal protections to their patients. They can strengthen their effectiveness in this role by achieving a greater knowledge of current protections including being able to identify specific steps that can help protect genetic information. PMID:25063358

  10. How do obstetric providers discuss referrals for prenatal genetic counseling?

    PubMed

    Bernhardt, Barbara A; Haunstetter, Carrie Mastromarino; Roter, Debra; Geller, Gail

    2005-04-01

    To investigate referrals of pregnant women to genetic counseling, we analysed transcripts from audiotaped first prenatal visits of 104 patients (72 actual patient visits and 32 simulated patient visits) with 32 providers (obstetricians and nurse-midwives). All patients had at least one indication for referral. Only 10% of visits with actual patients included a genetic counseling referral. When genetic counseling was discussed, it was only briefly described, primarily as an information session. This study shows that the majority of pregnant women with an indication for referral for genetic counseling are not referred. In addition, obstetric providers' inadequate descriptions of prenatal genetic counseling may result in women being poorly prepared for genetic counseling sessions. PMID:15959642

  11. Counseling customers: emerging roles for genetic counselors in the direct-to-consumer genetic testing market.

    PubMed

    Harris, Anna; Kelly, Susan E; Wyatt, Sally

    2013-04-01

    Individuals now have access to an increasing number of internet resources offering personal genomics services. As the direct-to-consumer genetic testing (DTC GT) industry expands, critics have called for pre- and post-test genetic counseling to be included with the product. Several genetic testing companies offer genetic counseling. There has been no examination to date of this service provision, whether it meets critics' concerns and implications it may have for the genetic counseling profession. Considering the increasing relevance of genetics in healthcare, the complexity of genetic information provided by DTC GT, the mediating role of the internet in counseling, and potential conflicts of interest, this is a topic which deserves further attention. In this paper we offer a discourse analysis of ways in which genetic counseling is represented on DTC GT websites, blogs and other online material. This analysis identified four types of genetic counseling represented on the websites: the integrated counseling product; discretionary counseling; independent counseling; and product advice. Genetic counselors are represented as having the following roles: genetics educator; mediator; lifestyle advisor; risk interpreter; and entrepreneur. We conclude that genetic counseling as represented on DTC GT websites demonstrates shifting professional roles and forms of expertise in genetic counseling. Genetic counselors are also playing an important part in how the genetic testing market is taking shape. Our analysis offers important and timely insights into recent developments in the genetic counseling profession, which have relevance for practitioners, researchers and policy makers concerned with the evolving field of personal genomics. PMID:23093333

  12. Genetic testing and counseling: selected ethical issues.

    PubMed

    Erlen, Judith A

    2006-01-01

    As science and technology in genetics continue to expand, complex ethical questions arise that require difficult decisions for all concerned. Rather than having ready-made answers, there may be only more challenging questions for patients, families, and healthcare professionals. These complicated questions may have no straightforward, correct answers, thus creating an ethical quandary. This article discusses some selected ethical issues that occur when patients are considering undergoing genetic testing and counseling, including respecting autonomy and the patient's right to decide, establishing patient-healthcare provider trust, and disclosing private information to others. Several strategies are presented that nurses can use as they assist patients and their families who are facing these challenging ethical dilemmas. PMID:17130767

  13. Genetic counseling services and development of training programs in Malaysia.

    PubMed

    Lee, Juliana Mei-Har; Thong, Meow-Keong

    2013-12-01

    Genetic counseling service is urgently required in developing countries. In Malaysia, the first medical genetic service was introduced in 1994 at one of the main teaching hospitals in Kuala Lumpur. Two decades later, the medical genetic services have improved with the availability of genetic counseling, genetic testing and diagnosis, for both paediatric conditions and adult-onset inherited conditions, at four main centers of medical genetic services in Malaysia. Prenatal diagnosis services and assisted reproductive technologies are available at tertiary centres and private medical facilities. Positive developments include governmental recognition of Clinical Genetics as a subspecialty, increased funding for genetics services, development of medical ethics guidelines, and establishment of support groups. However, the country lacked qualified genetic counselors. Proposals were presented to policy-makers to develop genetic counseling courses. Challenges encountered included limited resources and public awareness, ethical dilemmas such as religious and social issues and inadequate genetic health professionals especially genetic counselors. PMID:23615969

  14. Genetic Counseling of Adults with Williams Syndrome: A First Study

    PubMed Central

    Farwig, Katrina; Harmon, Amanda G.; Fontana, Kristina M.; Mervis, Carolyn B.; Morris, Colleen A.

    2010-01-01

    We report on a study of genetic counseling to 43 adults with Williams syndrome (WS). Participants were initially asked what they knew about how WS occurs. Genetic counseling was provided with a focus on the basic genetics of WS, recurrence risk, and on participants’ attitudes toward socio-cultural topics. Forty nine % indicated they would be okay or happy if their baby had WS, 44% said they would be sad or upset, and 5% were unsure. The sad/upset group was significantly older than the okay/happy group and a significantly higher proportion of the former group indicated they did not plan to have children. During the post counseling session participants were questioned to determine if they recalled the facts previously presented. Eighy one % correctly gave the odds that their child would have WS. Fifty three % considered the 50-50 odds to be a high chance. After genetic counseling, 61% were able to state something that had been taught, and 88% indicated they would want to test their baby for WS before birth. Ninety eight% would recommend genetic counseling to others. Findings indicate that based on the type of genetic counseling provided in this study, the majority of individuals with WS—a genetic disorder associated with intellectual disability but with relative strengths in (concrete) language and in verbal rote memory—are able to learn simple facts about the genetics of WS and are eager to respond to socio-cultural questions regarding topics typically included in genetic counseling sessions. PMID:20425790

  15. Career research interests and training of genetic counseling students.

    PubMed

    Bedard, Angela C; Huether, Carl A; Shooner, Kerry; Buncher, C Ralph; Warren, Nancy Steinberg

    2007-10-01

    Research is important to validate clinical services, provide information on the effectiveness of practice techniques, and develop the knowledge base of a clinical profession. Genetic counseling students from American Board of Genetic Counseling (ABGC) accredited training programs were surveyed to determine their career research interests and interest in pursuing a hypothetical doctoral degree in genetic counseling. Genetic counseling program directors were surveyed to assess the emphasis on research training within their programs. A substantial number (46%, n = 92) of genetic counseling students are interested in performing research in their careers and many (40%, n = 80) would pursue a doctoral degree in genetic counseling if it was available. Students and directors from programs with a thesis requirement reported a significantly higher emphasis on career research preparation than those from programs without a thesis requirement. The results of this study indicate that future genetic counselors are interested in contributing to the research base that will advance the field. This study suggests a need to strengthen research training within ABGC accredited graduate programs and explore the development of a doctoral degree option in genetic counseling. PMID:17674166

  16. Genetic counseling of the cancer survivor

    SciTech Connect

    Mulvihill, J.J.; Byrne, J.

    1989-02-01

    Each year, tens of thousands of persons are diagnosed with cancer, are treated, and become survivors while still in their reproductive years. Their concerns about possible germ-cell damage as a result of life-saving radiation, chemotherapy, or both are plausible, based on evidence from animal models and from somatic cell mutations in human beings. A 40-year follow-up of survivors of the atomic bomb blasts in Japan showed no detectable genetic damage and suggested that the human gonad is more resistant to radiogenic mutation than the laboratory mouse. The pooled results of studying 12 series of offspring of cancer patients showed a 4% rate of major birth defects (similar to that of the general population) and an excess of fetal loss and low birth weight in offspring of women who received abdominal radiotherapy. According to preliminary evaluation of a new National Cancer Institute collaboration with five cancer registries, offspring of survivors of childhood cancers had no more birth defects than expected and, beyond an increase in probably familial cancers in children younger than 5, no overall increase in childhood cancer. Ideally, genetic and reproductive counseling should take place as soon as cancer is diagnosed (before therapy starts) and again when pregnancy is contemplated. 28 references.

  17. Genetic Counseling in Autism and Pervasive Developmental Disorders.

    ERIC Educational Resources Information Center

    Simonoff, Emily

    1998-01-01

    Provides a protocol for counseling families with an autistic member concerning the risk of having an autistic child. Reports data regarding empirical recurrence risks and identifies the key elements that influence recurrence risks for individual couples. Counseling expertise in both diagnosis and treatment of autism and in the genetics of complex…

  18. Genetic counseling and cascade genetic testing in Lynch syndrome.

    PubMed

    Hampel, Heather

    2016-07-01

    Lynch syndrome is the most common cause of inherited colorectal and endometrial cancers. Individuals with Lynch syndrome have a 10-80 % lifetime risk for colorectal cancer and a 15-60 % lifetime risk for endometrial cancer. Both cancers are preventable through chemoprevention, intensive cancer surveillance, and risk-reducing surgery options. Efforts to identify as many individuals with Lynch syndrome as possible will prevent cancers and save lives. This includes the traditional cancer genetic counseling model whereby individuals with and without cancer are evaluated for a possible Lynch syndrome diagnosis based on their personal and family history of colon polyps and cancers. It also includes universal tumor screening for Lynch syndrome whereby all individuals with colorectal or endometrial cancer are screened for tumor features of Lynch syndrome at the time of diagnosis. Those with tumors suspicious for Lynch syndrome are referred for cancer genetic counseling regardless of their family history of cancer. This two approaches must be maximized to attain high patient reach. Finally, and perhaps most importantly, cascade testing among the at-risk relatives of those diagnosed with Lynch syndrome is critically important to maximize the diagnosis of individuals with Lynch syndrome. In fact, the cost-effectiveness of universal tumor screening for Lynch syndrome relies entirely on counseling and testing as many at-risk individuals as possible since young unaffected individuals stand to benefit the most from an early diagnosis of Lynch syndrome. This approach must be optimized to achieve high family reach. It will take a concerted effort from patients, clinicians and public health officials to improve current approaches to the diagnosis of Lynch syndrome and the prevention and treatment of Lynch syndrome-associated cancer but these lessons can be applied to other conditions as the ultimate example of personalized medicine. PMID:26969309

  19. Helping Couples Fulfill the "Highest of Life's Goals": Mate Selection, Marriage Counselling, and Genetic Counseling in United States.

    PubMed

    Stillwell, Devon

    2016-02-01

    This article traces the history of modern genetic counseling to mate selection and marriage counselling practices of the early-20th century. Mate selection revolved around a belief that human heredity could be improved and genetic diseases eradicated through better breeding. Marriage counselling, though interested in reproduction, was also concerned with the emotional and psychological well-being of couples. These two practices coalesced most obviously in the work of well-known geneticist Sheldon Reed. Even as marriage and genetic counselling diverged in the post-WWII period, vestiges of these practices remain in contemporary counseling experiences with family planning and genetic screening programs. Emphasizing points of continuity between "positive" eugenic ideologies and modern genetic practices elaborates the diverse origins of genetic counseling. It also exposes how genetic counselors have become involved in genetic enterprises beyond standard clinical settings, and prods at key issues in the interaction between genetic science and social values. PMID:26264808

  20. [Genetic testing and counseling for familial tumor syndromes].

    PubMed

    Katai, Miyuki; Sakurai, Akihiro; Fukushima, Yoshimitsu

    2002-04-01

    Recent developments in molecular biology have increased our understanding of the genetics of familial tumor syndromes. Isolation of the responsible genes has made it possible to identify gene carriers before they manifest clinical symptoms, which enables early detection of disease and at times prophylactic surgery. Indications for genetic testing of susceptible family members, however, should be carefully considered. Genetic counseling must be provided to clients before genetic tests. Patients should be provided with the latest knowledge on the disease and appropriately informed of the benefits and possible problems associated with genetic test, as such information is essential for clients to decide whether they will undergo such tests. Genetic medicine is not sufficiently available at present in Japan. Establishment of genetic services that deal with genetic counseling, family support and ethical, social and legal issues is strongly desired. PMID:11977532

  1. Presymptomatic ALS genetic counseling and testing: Experience and recommendations.

    PubMed

    Benatar, Michael; Stanislaw, Christine; Reyes, Eliana; Hussain, Sumaira; Cooley, Anne; Fernandez, Maria Catalina; Dauphin, Danielle D; Michon, Sara-Claude; Andersen, Peter M; Wuu, Joanne

    2016-06-14

    Remarkable advances in our understanding of the genetic contributions to amyotrophic lateral sclerosis (ALS) have sparked discussion and debate about whether clinical genetic testing should routinely be offered to patients with ALS. A related, but distinct, question is whether presymptomatic genetic testing should be offered to family members who may be at risk for developing ALS. Existing guidelines for presymptomatic counseling and testing are mostly based on small number of individuals, clinical judgment, and experience from other neurodegenerative disorders. Over the course of the last 8 years, we have provided testing and 317 genetic counseling sessions (including predecision, pretest, posttest, and ad hoc counseling) to 161 first-degree family members participating in the Pre-Symptomatic Familial ALS Study (Pre-fALS), as well as testing and 75 posttest counseling sessions to 63 individuals with familial ALS. Based on this experience, and the real-world challenges we have had to overcome in the process, we recommend an updated set of guidelines for providing presymptomatic genetic counseling and testing to people at high genetic risk for developing ALS. These recommendations are especially timely and relevant given the growing interest in studying presymptomatic ALS. PMID:27194384

  2. Genetic Counseling and Mongolism (Down's Syndrome): Prediction, Detection, Prevention.

    ERIC Educational Resources Information Center

    Schlichte, John E.

    Intended for use by the public as well as by medical professionals and related service agencies, the booklet presents genetic counseling as a means of providing information to deal with genetic disorders in general and mongolism (Down's syndrome) in particular. Characteristics of mongolism and possible emotional effects on the family of a…

  3. Prevalence and detection of psychosocial problems in cancer genetic counseling.

    PubMed

    Eijzenga, W; Bleiker, E M A; Hahn, D E E; Van der Kolk, L E; Sidharta, G N; Aaronson, N K

    2015-12-01

    Only a minority of individuals who undergo cancer genetic counseling experience heightened levels of psychological distress, but many more experience a range of cancer genetic-specific psychosocial problems. The aim of this study was to estimate the prevalence of such psychosocial problems, and to identify possible demographic and clinical variables associated significantly with them. Consenting individuals scheduled to undergo cancer genetic counseling completed the Psychosocial Aspects of Hereditary Cancer (PAHC) questionnaire, the Hospital Anxiety and Depression Scale (HADS) and the Distress Thermometer (DT) prior to or immediately following their counseling session. More than half of the 137 participants reported problems on three or more domains of the PAHC, most often in the domains 'living with cancer' (84%), 'family issues' (46%), 'hereditary predisposition' (45%), and 'child-related issues' (42%). Correlations between the PAHC, the HADS and the DT were low. Previous contact with a psychosocial worker, and having a personal history of cancer were associated significantly with HADS scores, but explained little variance (9%). No background variables were associated significantly with the DT. Previous contact with a psychosocial worker, and having children were significantly associated with several PAHC domains, again explaining only a small percentage of the variance (2-14%). The majority of counselees experience specific cancer genetic counseling-related psychosocial problems. Only a few background variables are associated significantly with distress or psychosocial problems. Thus we recommend using the PAHC or a similar problem-oriented questionnaire routinely in cancer genetic counseling to identify individuals with such problems. PMID:25968807

  4. [The importance of genetic counseling at sickle cell anemia].

    PubMed

    Guimarães, Cínthia Tavares Leal; Coelho, Gabriela Ortega

    2010-06-01

    The genetic counseling has the purpose of guiding people through a conscientious and balanced decision making process regarding procreation, helping them to understand how the hereditary succession can contribute for the occurrence or risk of recurrence of genetic illnesses, as it is the case of the sickle cell anemia. This type of anemia is the most prevalence hereditary illness in Brazil and has clinical complications that can harm the development, the quality of life and lead to death. The present article has the objective to clarify the importance of the genetic counseling for the anemia carriers or falciform trace, aiming at to point out the main characteristics of this illness, its complications and how the diagnosis is made. The study was based on the bibliographical method, looking for studies that deal with this type of anemia and genetic counseling, relating them with guidelines and data from the Health Ministry. Based on the found data, we infer the importance of genetic counseling for the individuals who present the heterozygote form of sickle cell anemia - the falcemic trace - and highlight the need to implement precocious diagnostics programs and genetic and social/psychological orientation for those with the disease or falciform trace. PMID:20640335

  5. Frequently Asked Questions about Genetic Counseling

    MedlinePlus

    ... for Patient Care Education All About the Human Genome Project Fact Sheets Genetic Education Resources for Teachers ... Education Kit Online Genetics Education Resources Smithsonian NHGRI Genome Exhibition Talking Glossary: English Talking Glossary: Español Issues ...

  6. Views, Knowledge, and Beliefs about Genetics and Genetic Counseling among Deaf People

    ERIC Educational Resources Information Center

    Middleton, Anna; Emery, Steven D.; Turner, Graham H.

    2010-01-01

    Genetic counseling is part of the social response to the science of genetics. It is intended to help twenty-first-century societies manage the consequences of our ability to observe and intervene in our genetic makeup. This article explores the views, knowledge, and beliefs of some Deaf and hard of hearing people about genetics and genetic…

  7. Nonverbal Sensitivity: Consequences for Learning and Satisfaction in Genetic Counseling

    ERIC Educational Resources Information Center

    Roter, D. L.; Erby, L. H.; Hall, J. A.; Larson, S.; Ellington, L.; Dudley, W.

    2008-01-01

    Purpose: This study aims to explore the role of interactants' nonverbal sensitivity, anxiety and sociodemographic characteristics in learning and satisfaction within the genetic counseling context. Design/methodology/approach: This is a combined simulation and analogue study. Simulations were videotaped with 152 prenatal and cancer genetic…

  8. Genetic Counseling for the 22q11.2 Deletion

    ERIC Educational Resources Information Center

    McDonald-McGinn, Donna M.; Zackai, Elaine H.

    2008-01-01

    Because of advances in palliative medical care, children with the 22q11.2 deletion syndrome are surviving into adulthood. An increase in reproductive fitness will likely follow necessitating enhanced access to genetic counseling for these patients and their families. Primary care physicians/obstetric practitioners are in a unique position to…

  9. Future directions in genetic counseling: practical and ethical considerations.

    PubMed

    Biesecker, Barbara Bowles

    1998-06-01

    The accelerated discovery of gene mutations that lead to increased risk of disease has led to the rapid development of predictive genetic tests. These tests improve the accuracy of assigning risk, but at a time when intervention or prevention strategies are largely unproved. In coming years, however, data will become increasingly available to guide treatment of genetic diseases. Eventually genetic testing will be performed for common diseases as well as for rare genetic conditions. This will challenge genetic counseling practice. The ethical principles that now guide this practice take into account the personal nature of test decision making, the need to respect individual self-determination, and the importance of client confidentiality. Certain of these principles may have to be modified as genetic testing becomes more widespread in order to meet the changing needs of clients and society. This paper offers recommendations to ensure that genetic counselors will take a leading role in the future delivery of ethical genetic services. PMID:11657426

  10. Improved genetic counseling in Alport syndrome by new variants of COL4A5 gene.

    PubMed

    Fernandez-Rosado, Francisco; Campos, Ana; Alvarez-Cubero, Maria Jesus; Ruiz, Ana; Entrala-Bernal, Carmen

    2015-07-01

    There are current requirements of using genetic databases for offering a better genetic assistance to patients of some syndromes, especially those with X-linked heredity patterns (like Alport Syndrome) for the high probability of having descendants affected by the disease. We describe the first reported case of COL4A5 gene missense c.1499 G>T mutation in a 16-year-old girl confirmed to be affected by Alport Syndrome after genetic counseling. Next Generation Sequencing procedures let discover this mutation and offer an accurate clinical treatment to this patient. Current scientific understanding of genetic syndromes suggests the high importance of updated databases and the inclusion of Variant of Unknown Significance related to clinical cases. All of this updating could enable patients to have a better opportunity of diagnosis and having genetic and clinical counseling. This event is even more important in women planning to start a family to have correct genetic counseling regarding the risk posed to offspring, and allowing the decision to undergo prenatal testing. PMID:26063487

  11. Survey on genetic counseling and health management for symptomatic and asymptomatic female dystrophinopathy carriers in Japan today.

    PubMed

    Kobayashi, Michio; Ishizaki, Masatoshi; Adachi, Katsuhito; Yonemoto, Naohiro; Matsumura, Tsuyoshi; Toyoshima, Itaru; Kimura, En

    2016-06-22

    To clarify the current status of genetic counseling and health monitoring for symptomatic and asymptomatic female carriers of dystrophinopathy (Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD)), we sent out questionnaires to 104 member institutions of The Japan's National Liaison Council for Clinical Sections of Medical Genetics, and responses were received from 51 institutions. Between April 2013 and March 2014, 57 carriers at 21 institutions received genetic counseling, and 37 carriers at 15 institutions underwent genetic screening for DMD/BMD mutations. At the 23 institutions that gave genetic counseling, 20 (87%) informed carriers of possible health problems, 14 (61%) informed carriers of cardiomyopathy and heart failure, and 14 (61%) advised carriers about regular medical checkups. Evidence based on accurate and up-to-date epidemiological studies of female carriers is needed and should be widely shared with the families, medical providers, and society. PMID:27212674

  12. Delivering genetic education and genetic counseling for rare diseases in rural Brazil.

    PubMed

    Acosta, A X; Abé-Sandes, K; Giugliani, R; Bittles, A H

    2013-12-01

    Brazil is the largest country in Latin America, with an ethnically diverse, Portuguese-speaking and predominantly Roman Catholic population of some 194 million. Universal health care is provided under the Federal Unified Health System (Sistema Único de Saúde) but, as in many other middle and low income countries, access to medical genetics services is limited in rural and remote regions of the country. Since there is no formally recognized Genetic Counseling profession, genetic counseling is provided by physicians, trained either in medical genetics or a related clinical discipline. A comprehensive medical genetics program has been established in Monte Santo, an inland rural community located in the state of Bahia in Northeast Brazil, with high prevalences of a number of autosomal recessive genetic disorders, including non-syndromic deafness, phenyketonuria, congenital hypothyroidism and mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). Genetic education, counseling and treatment are locally provided, with a neonatal screening program for MPSVI currently under trial. PMID:23338802

  13. Goals, benefits, and outcomes of genetic counseling: client and genetic counselor assessment.

    PubMed

    Bernhardt, B A; Biesecker, B B; Mastromarino, C L

    2000-09-18

    Most studies of outcomes of genetic counseling have focused on client knowledge, reproductive plans and behavior, or satisfaction. Other measures of the "value" of genetic counseling are needed to guide research assessing the impact of genetic counseling on individuals and populations, as well as to improve the process of providing care. To obtain input from providers, we conducted telephone interviews with six experienced genetic counselors, and then we held a focus group with 10 additional genetic counselors from a variety of practice settings. To obtain input from consumers, telephone interviews were also conducted with 19 past clients of these participating counselors. We found that counselor goals focus on meeting clients' needs, usually educating and providing psychosocial support. Clients often had few goals going into a session because they were unaware of what would be discussed or how the session would be structured. They usually did not expect to receive "counseling," and when they did, it was a welcome surprise. Both clients and counselors commented that a positive interpersonal interaction and "connecting" are primary measures of success. All clients appreciated the large amount of time spent with the counselor, and the manner (clear, comprehensive, and unhurried) of providing information. Many clients said that genetic counseling resulted in improved communication with their partners and other family members. Clients view the counselor as an "expert" and value the counselor as an on-going resource for both information and support. These "outcomes"f genetic counseling need to be assessed, and new measures must be developed. PMID:10995504

  14. An overview of genetic counseling in Cuba.

    PubMed

    Cruz, Araceli Lantigua

    2013-12-01

    This brief report provides an overview of the history and current status of genetic services in Cuba. In 1971, the University of Medical Sciences of Havana began to train doctors in medical genetics according to the medicine development plan in Cuba. With the aim of introducing genetic services to the population, two main issues were identified: the impact of neural tube defects as a cause of infantile mortality, and a founder effect resulting in a high frequency of sickle cell anemia, which increased the mortality rate and impacted the quality of peoples' lives. The impact of consanguinity is variable; it depends on the isolation of the population, with rates of 1 to 11% in different regions for first and second cousin marriages. From 1981, the services of medical genetics began to expand to the entire country, according to a government directive, and the need to design a program for the specialty became evident. From 1995 to 2000, two Masters-level programs were designed by professors of the Department of Medical Genetics, University of Medical Sciences of Havana, and authorized by the Ministry of Higher Education. One program in medical genetics was designed for physicians with other specialties, and the second program was designed to train professionals to become genetic counselors. The majority of graduates from the latter program are working at the primary level of healthcare. PMID:23934326

  15. A teaching framework for cross-cultural genetic counseling.

    PubMed

    Weil, J; Mittman, I

    1993-09-01

    The increasing diversity of American society has brought growing recognition of the need to bridge cultures in the delivery of genetic counseling services. New immigrants and members of diverse ethnic groups face multiple barriers to genetic counseling services. The need to train genetic counselors to deal with cultural diversity is especially crucial in the new genetic era, given the rapid expansion of available technology, with the resulting social and ethical ramifications. A framework for teaching cross-cultural issues in genetic counseling training programs is presented that can be implemented in step-wise fashion, consistent with available resources. Cross-cultural issues can be incorporated into existing teaching and training modalities by expanding the orientation from monocultural to multicultural. Relevant clinical experience, exploration of students' preconceptions and biases, reading materials, and lectures by invited speakers can all enhance students' knowledge and sensitivity. It is critically important that training programs furnish students with the basic tools necessary for the ongoing process of learning about cultural diversity. PMID:24242637

  16. Respecting autonomous decision making among Filipinos: a re-emphasis in genetic counseling.

    PubMed

    Cura, Jonathan Diego

    2015-04-01

    Family cohesiveness provides a unique cultural influence in the observance and expression of autonomy in terms of Filipino patients' decision making. With genetic counseling yet in its dawning practice in the Philippines, healthcare professionals (i.e., geneticists, practitioners) practicing genetic counseling and students in the pioneering genetic counseling program face the challenge of how to provide culturally appropriate measures in respecting Filipinos' autonomy. There is much deliberation with respect to identifying autonomous decision making among Filipino patients as counselees in genetic counseling. Cultural values influence how autonomy and bioethical principles are upheld. In a culturally-appropriate manner of identifying who makes health care and genetic counseling decisions, the sole focus on an individualistic perspective may be too western-based and may render genetic counseling less effective. The uniquely important cultural feature of family cohesiveness necessitates its incorporation into the practice of genetic counseling in the Philippines. PMID:25663328

  17. Disability training in the genetic counseling curricula: bridging the gap between genetic counselors and the disability community.

    PubMed

    Sanborn, Erica; Patterson, Annette R

    2014-08-01

    Over the past two decades, disability activists, ethicists, and genetic counselors have examined the moral complexities inherent in prenatal genetic counseling and considered whether and in what ways genetic counseling may negatively affect individuals in the disability community. Many have expressed concerns about defining disability in the context of prenatal decision-making, as the definition presented may influence prenatal choices. In the past few years, publications have begun to explore the responsibility of counselors in presenting a balanced view of disability and have questioned the preparedness of counselors for this duty. Currently, the Accreditation Council for Genetic Counseling (ACGC) only minimally includes disability training in their competencies for genetic counselors, and in their accreditation requirements for training programs. In an attempt to describe current practice, this article details two studies that assess disability training in ABGC-accredited genetic counseling programs. Results from these studies demonstrate that experience with disability is not required by the majority of programs prior to matriculation. Though most program directors agree on the importance of including disability training in the curriculum, there is wide variability in the amount and types of training students receive. Hours dedicated to disability exposure among programs ranged from 10 to 600 hours. Eighty-five percent of program directors surveyed agree that skills for addressing disability should be added to the core competencies. Establishing a set of disability competencies would help to ensure that all graduates have the skills necessary to provide patients with an accurate understanding of disability that facilitates informed decision-making. PMID:24845370

  18. Genetic counseling services and training of genetic counselors in Israel: an overview.

    PubMed

    Sagi, Michal; Uhlmann, Wendy R

    2013-12-01

    Genetic counseling services have existed in Israel since 1964 and are available in almost all the major hospitals. Given the socialized healthcare system and small country size, genetic services are generally accessible and often free. The existence of founder mutations in various communities in Israel makes genetic testing easier to perform. Yet, the ethnic, cultural and religious diversity of the population has major implications on the design of the screening programs and the use of genetic services. The Israeli Association of Genetic Counselors (IAGC) was established in 2008 and had existed informally since 1989. There are two Master level genetic counseling training programs (6 students/class, 2 year program): Hebrew University-Hadassah Medical School (established in 1997) and the Technion (established in 2009). Genetic counselors' clinical training is largely observational and 2 years of supervised counseling sessions post degree are required for board exam eligibility. Genetic counselors are licensed and lead counseling sessions individually, but currently must work under medical geneticist supervision. This is the first article to summarize the history and training of Master level genetic counselors in Israel. Genetic services, coverage and regulations are also described. PMID:23435755

  19. The Emergence of Genetic Counseling in Sweden: Examples from Eugenics and Medical Genetics.

    PubMed

    Björkman, Maria

    2015-09-01

    This paper examines the intertwined relations between eugenics and medical genetics from a Swedish perspective in the 1940s and 1950s. The Swedish case shows that a rudimentary form of genetic counseling emerged within eugenic practices in the applications of the Swedish Sterilization Act of 1941, here analyzed from the phenomenon of "heredophobia" (ärftlighetsskräck). At the same time genetic counseling also existed outside eugenic practices, within the discipline of medical genetics. The paper argues that a demand for genetic counseling increased in the 1940s and 1950s in response to a sense of reproductive responsibility engendered by earlier eugenic discourse. The paper also questions the claim made by theoreticians of biopolitics that biological citizens have emerged only during the last decades, especially in neoliberal societies. From the Swedish case it is possible to argue that this had already happened earlier in relation to the proliferation of various aspects of eugenics to the public. PMID:26256508

  20. Teaching Genomic Counseling: Preparing the Genetic Counseling Workforce for the Genomic Era

    PubMed Central

    Hooker, Gillian W.; Ormond, Kelly E.; Sweet, Kevin; Biesecker, Barbara B.

    2014-01-01

    Genetic counselors have a long-standing history of working on the clinical forefront of implementing new genetic technology. Genomic sequencing is no exception. The rapid advancement of genomic sequencing technologies, including but not limited to next generation sequencing approaches, across all subspecialties of genetic counseling mandates attention to genetic counselor training at both the graduate and continuing education levels. The current era provides a tremendous opportunity for counselors to become actively involved in making genomics more accessible, engaging the population in decisions to undergo sequencing and effectively translating genomic information to promote health and well-being. In this commentary, we explore reasons why genomic sequencing warrants particular consideration and put forward strategies for training program curricula and continuing education programs to meet this need. PMID:24504939

  1. Genetics of consanguineous marriage: Impact and importance of counseling

    PubMed Central

    Akrami, Seyed Mohammad

    2012-01-01

    Consanguineous marriage, marriage between close biological kin, especially that between first cousins, is socially favored in some parts of North Africa, the Middle East and Asia. An increased rate of congenital anomalies and autosomal recessive disorders are significantly associated with such practice. In such communities, misunderstanding and external attempts to discourage such marriage without proper genetic counseling seem to be inappropriate and unsuccessful. Update in knowledge of clinicians especially pediatricians is the aim of this paper regarding importance and issues behind consanguineous marriage.

  2. Lessons from Freelancing, Lighting Design to Genetic Counseling.

    PubMed

    Disco, Michele

    2016-08-01

    Theatrical lighting design and genetic counseling may seem like antipodal career choices. The former was chosen from a belief in the dynamism of the theatrical experience, as well as love of the actual work. As I grew older, the powerful personal experiences of a life encompassing miscarriages, the birth of a child with a genetic disorder, and breast cancer profoundly directed my choice of a new career; one that I also love. Clearly, the day-to-day work is very different. However, people in both professions strive to create a transformative space for their respective public. Rather than being left behind, lessons learned by working as a freelancer have served as a source of inspiration as I have matured into my new career. Three specific strategies, supported by literature on career models, have been paramount. First, keeping an eye on the big picture encourages awareness of where the field of genetics and the genetic counseling job market are headed. That awareness leads to the advocacy necessary to achieve the outcomes genetic counselors want. Second, striving for continual personal growth keeps genetic counselors engaged and personally ready for professional changes. Third, networking provides the connections to make clinical and advocacy efforts successful, in addition to essential social support. PMID:27040826

  3. Assessment of the Readability of Genetic Counseling Patient Letters.

    PubMed

    Brown, Emily; Skinner, Megan; Ashley, Stephanie; Reed, Kate; Dixon, Shannan DeLany

    2016-06-01

    Patient letters are a powerful tool that genetic counselors use to communicate with their patients. Patient letters are often sent to provide information on a new diagnosis, reiterate test results, and to serve as a permanent record of the visit. Patient letters, however, are only helpful if the patients can understand them. More than 50 % of the US population reads below a 9th grade reading level and over one-third of the population has low health literacy skills. In this study we evaluate the readability of genetic counseling patient letters by assessing reading level, image use, and terminology use. One hundred forty-nine genetic counselors participated in the survey and of these, 79 submitted a sample patient letter. Analyses of the letters revealed a mean reading level of 10.93. On average, 6 genetic terms were included in each letter, and only 25 % of these terms were defined. Analyses of survey responses revealed over 75 % of the genetic counselors did not include images in their patient letters. These results indicate there is room for improvement in order to make genetic counseling patient letters more accessible to the general population. PMID:26416185

  4. Evaluation of group genetic counseling for hereditary breast and ovarian cancer.

    PubMed

    Ridge, Yolanda; Panabaker, Karen; McCullum, Mary; Portigal-Todd, Cheryl; Scott, Jenna; McGillivray, Barbara

    2009-02-01

    As demand for genetic counseling regarding hereditary cancer continues to grow, more efficient methods of providing this service must be explored. In this pilot study, group genetic counseling was offered to two different cohorts of women seeking genetic counseling for Hereditary Breast and Ovarian Cancer. Seven group sessions, designed to cover all aspects of an individual genetic counseling appointment, were conducted. Although patients were receptive to group genetic counseling, a significant proportion chose individual counseling when given the option. Advantages of group genetic counseling include shared experience and increased efficiency. Disadvantages include increased frustration at not being eligible for genetic testing, group influence on decision-making, privacy concerns, increased need for follow-up, and difficulty booking group appointments. Overall, the level of patient satisfaction with group genetic counseling was similar to that of individual counseling. The results of this pilot study suggest that further research is needed to determine whether group genetic counseling is an acceptable alternative to individual counseling. PMID:19127417

  5. Decision-making through dialogue: reconfiguring autonomy in genetic counseling.

    PubMed

    White, M T

    1998-01-01

    Nondirective genetic counseling developed as a means of promoting informed and independent decision-making. To the extent that it minimizes risks of coercion, this counseling approach effectively respects client autonomy. However, it also permits clients to make partially informed, poorly reasoned or ethically questionable choices, and denies counselors a means of demonstrating accountability for the use of their services. These practical and ethical tensions result from an excessive focus on noncoercion while neglecting the contribution of adequate information and deliberative competence to autonomous decision-making. A counseling approach that emphasizes the role of deliberation may more reliably produce thoroughly reasoned decisions. In such an approach, characterized by dialogue, counselors are responsible for ensuring that decisions are fully informed and carefully deliberated. Counseling remains nonprescriptive, but in the course of discussion counselors may introduce unsolicited information and/or challenge what they believe are questionable choices. By this means clients can be better assured that the decisions they make are fully considered, while counselors demonstrate a limited degree of professional accountability. PMID:9564083

  6. E-Learning of Genetic Counseling and Basic Genetics for Psychologists in Brazil

    ERIC Educational Resources Information Center

    Pustilnick, Renato; Correia-Neto, Jorge S.; Vilar, Guilherme

    2013-01-01

    This study describes the development of a learning process of genetic counseling and basic genetics using an e-learning model and its application to a group of psychologists in the state of Parana in southern Brazil. The aim was to analyze the impact on the increase of knowledge in the presented subjects and the possibility of applying this…

  7. Reviewing manuscripts for the Journal of Genetic Counseling: practical suggestions.

    PubMed

    Venne, Vickie

    2015-04-01

    The Journal of Genetic Counseling is the literary voice of our profession and our scholarship is only as good as the articles that are accepted. A quality review assists the editor in making publication decisions and enhances the manuscripts that are published, ultimately benefitting our profession and the public. Perhaps you are new to the reviewing process and/or you wonder about the sorts of things that make for a good review. The purpose of this article is to provide general guidance to enhance your experience of peer review. While the focus is research manuscripts, many of the guidelines will be similar for case reports, reviews, or professional issues papers. PMID:25527418

  8. Prenatal genetic counseling in cross-cultural medicine

    PubMed Central

    Bhogal, Ashvinder K.; Brunger, Fern

    2010-01-01

    Abstract OBJECTIVE To help family physicians practise effective genetic counseling and offer practical strategies for cross-cultural communication in the context of prenatal genetic counseling. SOURCES OF INFORMATION PubMed and the Cochrane Database of Systematic Reviews were searched. Most evidence was level II and some was level III. MAIN MESSAGE The values and beliefs of practitioners, no less than those of patients, are shaped by culture. In promoting a patient’s best interest, the assumptions of both the patient and the provider must be held up for examination and discussed in the attempt to arrive at a consensus. Through the explicit discussion and formation of trust, the health professionals, patients, and family members who are involved can develop a shared understanding of appropriate therapeutic goals and methods. CONCLUSION Reflecting on the cultural nature of biomedicine’s ideas about risk, disability, and normality helps us to realize that there are many valid interpretations of what is in a patient’s best interest. Self-reflection helps to ensure that respectful communication with the specific family and patient is the basis for health care decisions. Overall, this helps to improve the quality of care. PMID:20944039

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

    PubMed Central

    Vig, Hetal S.; Wang, Catharine

    2014-01-01

    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. PMID:22419176

  10. The Quality of Genetic Counseling and Connected Factors as Evaluated by Male BRCA1/2 Mutation Carriers in Finland.

    PubMed

    Kajula, Outi; Kääriäinen, Maria; Moilanen, Jukka S; Kyngäs, Helvi

    2016-06-01

    There is little written about the quality of genetic counseling for men with the BRCA1/2 mutation. The purpose of this study was to describe the quality of genetic counseling and connected factors according to Finnish male BRCA1/2 mutation carriers' (n = 35) perspectives and reasons for seeking genetic counseling. Data were collected from the Departments of Clinical Genetics at five Finnish university hospitals. The exploratory study design was conducted using a 51-item questionnaire based on a previously devised quality of counseling model and analyzed using non-parametric tests and principle content analysis. The satisfaction level with genetic counseling was high, especially with regard to the content of genetic counseling. The benefit of genetic counseling on the quality of life differed significantly (p < 0.001-0.009) from other factors. In particular, genetic counseling was in some cases associated to reduce the quality of life. Only 49 % of the male carriers felt they received sufficient counseling on social support. Attention to individual psychosocial support was proposed as an improvement to genetic counseling. Primary and secondary reasons for seeking genetic counseling and background information, such as education, affected the perceived quality of genetic counseling. The results of the study could be used to tailor genetic counseling for male BRCA1/2 mutation carriers. PMID:26416184

  11. Neuromuscular disorders: genes, genetic counseling and therapeutic trials.

    PubMed

    Zatz, Mayana; Passos-Bueno, Maria Rita; Vainzof, Mariz

    2016-01-01

    Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes responsible for NMD. Genotype-phenotype correlations studies enhanced our comprehension on the effect of gene mutations on related proteins and their impact on clinical findings. The search for modifier factors allowed the identification of a novel "protective"; variant which may have important implication on therapeutic developments. Molecular diagnosis was introduced in the 1980s and new technologies have been incorporated since then. Next generation sequencing greatly improved our capacity to identify disease-causing mutations with important benefits for research and prevention through genetic counseling of patients' families. Stem cells researches, from and for patients, have been used as tools to study human genetic diseases mechanisms and for therapies development. The clinical effect of preclinical trials in mice and canine models for muscular dystrophies are under investigation. Finally, the integration of our researches and genetic services with our post-graduation program resulted in a significant output of new geneticists, spreading out this expertise to our large country. PMID:27575431

  12. Neuromuscular disorders: genes, genetic counseling and therapeutic trials

    PubMed Central

    Zatz, Mayana; Passos-Bueno, Maria Rita; Vainzof, Mariz

    2016-01-01

    Abstract Neuromuscular disorders (NMD) are a heterogeneous group of genetic conditions, with autosomal dominant, recessive, or X-linked inheritance. They are characterized by progressive muscle degeneration and weakness. Here, we are presenting our major contributions to the field during the past 30 years. We have mapped and identified several novel genes responsible for NMD. Genotype-phenotype correlations studies enhanced our comprehension on the effect of gene mutations on related proteins and their impact on clinical findings. The search for modifier factors allowed the identification of a novel "protective"; variant which may have important implication on therapeutic developments. Molecular diagnosis was introduced in the 1980s and new technologies have been incorporated since then. Next generation sequencing greatly improved our capacity to identify disease-causing mutations with important benefits for research and prevention through genetic counseling of patients' families. Stem cells researches, from and for patients, have been used as tools to study human genetic diseases mechanisms and for therapies development. The clinical effect of preclinical trials in mice and canine models for muscular dystrophies are under investigation. Finally, the integration of our researches and genetic services with our post-graduation program resulted in a significant output of new geneticists, spreading out this expertise to our large country. PMID:27575431

  13. A pilot randomized clinical trial evaluating the impact of genetic counseling for serious mental illnesses

    PubMed Central

    Hippman, Catriona; Ringrose, Andrea; Inglis, Angela; Cheek, Joanna; Albert, Arianne Y. K.; Remick, Ronald; Honer, William G.; Austin, Jehannine C

    2016-01-01

    Objective The serious mental illnesses schizophrenia, schizoaffective disorder, and bipolar disorder are complex conditions affecting 1–4% of the population. Individuals with serious mental illnesses express interest in genetic counseling; an intervention showing promise for increasing patient knowledge and adaptation. This trial aimed to evaluate the effects of genetic counseling for people with serious mental illnesses as compared to an educational intervention or waitlist. Methods A pilot three-arm (each n=40; genetic counseling, a control intervention involving an educational booklet, or waitlist), parallel group, randomized clinical trial was conducted from September 2008–November 2011 in Vancouver, Canada. Participants with schizophrenia, bipolar disorder, or schizoaffective disorder (DSM-IV) completed outcome measures assessing knowledge, risk perception, internalized stigma, and perceived control over illness at baseline and one-month follow-up. The Brief Symptom Inventory was administered to control for current symptoms. Analyses included linear mixed effects models and chi-squared tests. Results Knowledge increased for genetic counseling/educational booklet compared to waitlist at follow-up (LRT=19.33, df=1, Holm-adjusted p=0.0003, R2LMM(m)=0.17). Risk perception accuracy increased at follow-up for genetic counseling compared to waitlist (Yates’ continuity corrected χ2=9.1, df=1, Bonferroni p=0.003) and educational booklet (Yates’ continuity corrected χ2=8.2, df=1, Bonferroni p=0.004). There were no significant differences between groups for stigma or perceived control scores. Conclusions Genetic counseling and the educational booklet improved knowledge; and genetic counseling, but not the educational booklet, improved risk perception accuracy for this population. The impact of genetic counseling on internalized stigma and perceived control is worth further investigation. Genetic counseling should be considered for patients with serious mental

  14. From Campers to Counselors: a Resource for Prospective Genetic Counseling Students.

    PubMed

    Wiesman, Chana; Rose, Esther; Klugman, Susan; Schreiber-Agus, Nicole

    2016-08-01

    When thinking about the future of the genetic counseling field, one place to start is with prospective genetic counseling graduate school applicants. Although resources and mentorship opportunities exist for genetic counselors entering the field, the process of deciding on a career, applying to graduate programs, and being admitted can be daunting. As members of the profession, we should take responsibility for ensuring that individuals have the information and resources necessary to make an educated decision about whether genetic counseling is the correct path for them and to take the initial steps along this path. In this article, we present our Genetic Counseling Boot Camp as a model for other genetic counselors to use in developing their own local programs. This type of program can benefit prospective genetic counselors as they begin their professional journeys and can also provide value for the organizers and presenters who are already seasoned in the field. PMID:26611540

  15. Use of an educational computer program before genetic counseling for breast cancer susceptibility: Effects on duration and content of counseling sessions

    PubMed Central

    Green, Michael J.; Peterson, Susan K.; Baker, Maria Wagner; Friedman, Lois C.; Harper, Gregory R.; Rubinstein, Wendy S.; Peters, June A.; Mauger, David T.

    2005-01-01

    Purpose: Patients seeking genetic testing for inherited breast cancer risk are typically educated by genetic counselors; however, the growing demand for cancer genetic testing will likely exceed the availability of counselors trained in this area. We compared the effectiveness of counseling alone versus counseling preceded by use of a computer-based decision aid among women referred to genetic counseling for a family or personal history of breast cancer. Methods: We developed and evaluated an interactive computer program that educates women about breast cancer, heredity, and genetic testing. Between May 2000 and September 2002, women at six study sites were randomized into either: Counselor Group (n = 105), who received standard genetic counseling, or Computer Group (n = 106), who used the interactive computer program before counseling. Clients and counselors both evaluated the effectiveness of counseling sessions, and counselors completed additional measures for the Computer Group. Counselors also recorded the duration of each session. Results: Baseline characteristics did not differ significantly between groups. Participants and counselors both rated the counseling sessions as highly effective, whether or not the sessions were preceded by computer use. Computer use resulted in significantly shorter counseling sessions among women at low risk for carrying BRCA1/2 mutations. In approximately half of the sessions preceded by clients’ computer use, counselors indicated that clients’ use of the computer program affected the way they used the time, shifting the focus away from basic education toward personal risk and decision-making. Conclusion: This study shows that the interactive computer program “Breast Cancer Risk and Genetic Testing” is a valuable adjunct to genetic counseling. Its use before counseling can shorten counseling sessions and allow counselors to focus more on the clients’ individual risks and specific psychological concerns. As the demand

  16. Form Follows Function: A Model for Clinical Supervision of Genetic Counseling Students.

    PubMed

    Wherley, Colleen; Veach, Patricia McCarthy; Martyr, Meredith A; LeRoy, Bonnie S

    2015-10-01

    Supervision plays a vital role in genetic counselor training, yet models describing genetic counseling supervision processes and outcomes are lacking. This paper describes a proposed supervision model intended to provide a framework to promote comprehensive and consistent clinical supervision training for genetic counseling students. Based on the principle "form follows function," the model reflects and reinforces McCarthy Veach et al.'s empirically derived model of genetic counseling practice - the "Reciprocal Engagement Model" (REM). The REM consists of mutually interactive educational, relational, and psychosocial components. The Reciprocal Engagement Model of Supervision (REM-S) has similar components and corresponding tenets, goals, and outcomes. The 5 REM-S tenets are: Learning and applying genetic information are key; Relationship is integral to genetic counseling supervision; Student autonomy must be supported; Students are capable; and Student emotions matter. The REM-S outcomes are: Student understands and applies information to independently provide effective services, develop professionally, and engage in self-reflective practice. The 16 REM-S goals are informed by the REM of genetic counseling practice and supported by prior literature. A review of models in medicine and psychology confirms the REM-S contains supervision elements common in healthcare fields, while remaining unique to genetic counseling. The REM-S shows promise for enhancing genetic counselor supervision training and practice and for promoting research on clinical supervision. The REM-S is presented in detail along with specific examples and training and research suggestions. PMID:25956951

  17. International exchange training in genetic counseling: an exploration of the value in exchange experiences.

    PubMed

    Alexander, Chelsea K A; Veach, Patricia McCarthy; Lian, Fengqin; LeRoy, Bonnie S

    2013-12-01

    International exchange training in genetic counseling is increasing, but research examining these experiences is lacking. In this study 309 genetic counseling students and genetic counselors completed an anonymous survey investigating six major research questions: (1) How prevalent are international genetic counseling experiences? (2) What types are pursued and why? (3) What supports and barriers exist? 3) What are the demographic characteristics of individuals accruing international experience? (5) Does international experience promote professional development? and (6) Do genetic counseling students and professionals perceive international experiences as beneficial? Most respondents were Caucasian females born in one of 25 countries. The most prevalent experiences involved either clinical observation or clinical training. Common motivations for pursuing international experience were personal growth, exposure to a different healthcare system, and travel opportunities. Outcomes included professionally-relevant experience and personal growth. Barriers included finances, limited availability of opportunities, and for those without international experience, family responsibilities. Additional findings, practice and training implications, and research recommendations are provided. PMID:23423708

  18. Multicultural genetic counseling: then, now, and in the 21st century.

    PubMed

    Wang, V O

    2001-01-01

    Scholars, educators, and practitioners have argued that racial-cultural issues are obstacles for those seeking genetic counseling. When available, cross-cultural genetic counseling has focused on simplistic knowledge of client health beliefs and cultural customs, professional cultures, and biased theoretical models as reasons for failure to create realistic knowledge of members of racial-cultural groups in the United States. Recognizing the importance of meeting the needs for all who seek genetic counseling services, genetic counselors have been providing direction in cross-cultural genetic counseling research, practice, training, and developing competency, ethical, and professional guidelines. However, emanating from a cultural pluralism perspective, cross-cultural genetic counseling has often resulted in homogenized group stereotypes without attention to intragroup variation and individual differences. A transition from cross-cultural towards multicultural genetics shifts from culture-specific group norms to an integrated social, historical, psychological, and political perspective. By valuing the process of personal and professional racial-cultural identity development, the evolution from cross-cultural to multicultural genetic counseling that has occurred within the past quarter century is discussed. PMID:11778981

  19. Genetic Counseling for Hereditary Cancer: A Pilot Study on Experiences of Patients and Family Members.

    ERIC Educational Resources Information Center

    Bleiker, E. M. A.; Aaronson, N. K.; Menko, F. H.; Hahn, D. E. E.; van Asperen, C. J.; Rutgers, E. J. T.; ten Kate, L. P.; Leschot, N. J.

    1997-01-01

    Individuals who received genetic counseling for cancer (N=36) provided feedback on the quality of services and identified areas for improvement. Reasons for counseling and need for psychosocial support are also considered. Generally high levels of satisfaction with care provided were found. Four areas for improvement are identified and discussed.…

  20. Cancer Genetics Risk Assessment and Counseling (PDQ®)—Health Professional Version

    Cancer.gov

    Expert-reviewed information summary in which cancer risk perception, risk communication, and risk counseling are discussed. The summary also contains information about recording and analyzing a family history of cancer and factors to consider when offering genetic testing.

  1. Deaf Adults' Reasons for Genetic Testing Depend on Cultural Affiliation: Results from a Prospective, Longitudinal Genetic Counseling and Testing Study

    ERIC Educational Resources Information Center

    Boudreault, Patrick; Baldwin, Erin E.; Fox, Michelle; Dutton, Loriel; Tullis, LeeElle; Linden, Joyce; Kobayashi, Yoko; Zhou, Jin; Sinsheimer, Janet S.; Sininger, Yvonne; Grody, Wayne W.; Palmer, Christina G. S.

    2010-01-01

    This article examines the relationship between cultural affiliation and deaf adults' motivations for genetic testing for deafness in the first prospective, longitudinal study to examine the impact of genetic counseling and genetic testing on deaf adults and the deaf community. Participants (n = 256), classified as affiliating with hearing, Deaf,…

  2. 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. PMID:26275666

  3. Effects of Anxiety on Novice Genetic Counseling Students' Experience of Supervised Clinical Rotations.

    PubMed

    MacFarlane, Ian M; McCarthy Veach, Pat; Grier, Janelle E; Meister, Derek J; LeRoy, Bonnie S

    2016-08-01

    Supervised clinical experiences with patients comprise a critical component of genetic counseling student education. Previous research has found genetic counseling students tend to be more anxiety prone than the general population, and anxiety related to supervision has been found in genetic counseling and related fields. The present study investigated how anxiety affects the experience of supervision for genetic counseling students. Second year genetic counseling students were invited to participate through email invitations distributed via training directors of the 33 programs accredited at the time of the study by the American Board of Genetic Counseling. An initial online survey contained the trait scale of the State-Trait Anxiety Inventory to estimate anxiety proneness in this population and an invitation to participate in a 45-minute semi-structured phone interview focusing on students' experiences of supervision during their clinical rotations. High and low trait anxiety groups were created using STAI scores, and the groups' interview responses were compared using consensual qualitative research methodology (CQR; Hill 2012). The high anxiety group was more likely to describe problematic supervisory relationships, appreciate the supervisor's ability to help them when they get stuck in sessions, and feel their anxiety had a negative effect on their performance in general and in supervision. Common themes included supervisors' balancing support and guidance, the importance of feedback, ego-centric responses, and supervisors as focal points. The results of the present study are largely consistent with current literature. Further research findings and research, practice, and training recommendations are provided. PMID:27098419

  4. Genetic Counselors' and Genetic Counseling Students' Attitudes Around the Clinical Doctorate and Other Advanced Educational Options for Genetic Counselors: A Report from the Genetic Counseling Advanced Degree Task Force.

    PubMed

    Nagy, Rebecca; Peay, Holly; Hicks, Melissa; Kloos, Jacqueline; Westman, Rachel; Conway, Laura; Finucane, Brenda; Fitzpatrick, Jennifer; Gordon, Erynn; Ramos, Erica; Sekhon-Warren, Jaspreet; Silver, Josh; Walton, Carol; Reiser, Catherine

    2015-08-01

    Since its establishment over 40 years ago, the genetic counseling profession has grown to an estimated ~4,000 professionals in North America. While the profession has maintained the Master's degree as the entry-level and terminal degree, many other allied health professions have added advanced training pathways, such as the clinical doctorate (ClinD) either as an optional post-professional degree or required entry-level degree. Discussions regarding advanced degrees have also occurred within the genetic counseling profession, dating back to as early as the 1980s. In 2011, the Genetic Counseling Advanced Degree Task Force (GCADTF) was convened to explore the issue again, with the goal of "[engaging] all of the professional leadership organizations in the field of genetic counseling in a decision-making process about whether the profession should move to a Clinical Doctorate". As part of their work, the GCADTF surveyed practicing genetic counselors (n = 4,321) and genetic counseling students (n = 522) in the US and Canada regarding their interest in moving to the ClinD as the entry-level degree. This survey also included questions about other options for advanced training to generate data to inform future discussions around this very important professional issue. Herein, we describe the results of the survey, with particular attention to genetic counselor preferences for additional advanced education/certification opportunities and recommendations for future discussion. PMID:25352337

  5. Breast Cancer Genetic Counseling: A Surgeon’s Perspective

    PubMed Central

    Agnese, Doreen M.; Pollock, Raphael E.

    2016-01-01

    As surgeons who care for patients with breast cancer, the possibility of a cancer diagnosis being related to a hereditary predisposition is always a consideration. Not only are we as surgeons always trying to identify these patients and families but also we are often asked about a potential hereditary component by the patients and their family members. It is therefore critical that we accurately assess patients to determine who may benefit from genetic testing. Importantly, the potential benefit for identifying a hereditary breast cancer extends beyond the patient to other family members and the risk may not be only for the development of breast cancers, but for other cancers as well. This review was written from the perspective of a surgeon with additional training in cancer genetics in an effort to provide a unique perspective on the issue and feel that a review of some of the more practical considerations is important. PMID:26858951

  6. 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. PMID:27242960

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

    PubMed Central

    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. PMID:27242960

  8. Ethical issues associated with genetic counseling in the context of adolescent psychiatry

    PubMed Central

    Ryan, Jane; Virani, Alice; Austin, Jehannine C.

    2015-01-01

    Genetic counseling is a well-established healthcare discipline that provides individuals and families with health information about disorders that have a genetic component in a supportive counseling encounter. It has recently been applied in the context of psychiatric disorders (like schizophrenia, bipolar disorder, schizoaffective disorder, obsessive compulsive disorder, depression and anxiety) that typically appear sometime during later childhood through to early adulthood. Psychiatric genetic counseling is emerging as an important service that fills a growing need to reframe understandings of the causes of mental health disorders. In this review, we will define psychiatric genetic counseling, and address important ethical concerns (we will particularly give attention to the principles of autonomy, beneficence, non-maleficence and justice) that must be considered in the context of its application in adolescent psychiatry, whilst integrating evidence regarding patient outcomes from the literature. We discuss the developing capacity and autonomy of adolescents as an essential and dynamic component of genetic counseling provision in this population and discuss how traditional viewpoints regarding beneficence and non-maleficence should be considered in the unique situation of adolescents with, or at risk for, psychiatric conditions. We argue that thoughtful and tailored counseling in this setting can be done in a manner that addresses the important health needs of this population while respecting the core principles of biomedical ethics, including the ethic of care. PMID:26937355

  9. Report on an Investigation into an Entry Level Clinical Doctorate for the Genetic Counseling Profession and a Survey of the Association of Genetic Counseling Program Directors.

    PubMed

    Reiser, Catherine; LeRoy, Bonnie; Grubs, Robin; Walton, Carol

    2015-10-01

    The master's degree is the required entry-level degree for the genetic counseling profession in the US and Canada. In 2012 the Association of Genetic Counseling Program Directors (AGCPD) passed resolutions supporting retention of the master's as the entry-level and terminal degree and opposing introduction of an entry-level clinical doctorate (CD) degree. An AGCPD workgroup surveyed directors of all 34 accredited training programs with the objective of providing the Genetic Counseling Advanced Degrees Task Force (GCADTF) with information regarding potential challenges if master's programs were required to transition to an entry-level CD. Program demographics, projected ability to transition to an entry-level CD, factors influencing ability to transition, and potential effects of transition on programs, students and the genetic counseling workforce were characterized. Two programs would definitely be able to transition, four programs would close, thirteen programs would be at risk to close and fourteen programs would probably be able to transition with varying degrees of difficulty. The most frequently cited limiting factors were economic, stress on clinical sites, and administrative approval of a new degree/program. Student enrollment under an entry-level CD model was projected to decrease by 26.2 %, negatively impacting the workforce pipeline. The results further illuminate and justify AGCPD's position to maintain the master's as the entry-level degree. PMID:26004260

  10. Disclosing genetic risk for coronary heart disease: effects on perceived personal control and genetic counseling satisfaction.

    PubMed

    Robinson, C L; Jouni, H; Kruisselbrink, T M; Austin, E E; Christensen, K D; Green, R C; Kullo, I J

    2016-02-01

    We investigated whether disclosure of coronary heart disease (CHD) genetic risk influences perceived personal control (PPC) and genetic counseling satisfaction (GCS). Participants (n = 207, age: 45-65 years) were randomized to receive estimated 10-year risk of CHD based on a conventional risk score (CRS) with or without a genetic risk score (GRS). Risk estimates were disclosed by a genetic counselor who also reviewed how GRS altered risk in those randomized to CRS+GRS. Each participant subsequently met with a physician and then completed surveys to assess PPC and GCS. Participants who received CRS+GRS had higher PPC than those who received CRS alone although the absolute difference was small (25.2 ± 2.7 vs 24.1 ± 3.8, p = 0.04). A greater proportion of CRS+GRS participants had higher GCS scores (17.3 ± 5.3 vs 15.9 ± 6.3, p = 0.06). In the CRS+GRS group, PPC and GCS scores were not correlated with GRS. Within both groups, PPC and GCS scores were similar in patients with or without family history (p = NS). In conclusion, patients who received their genetic risk of CHD had higher PPC and tended to have higher GCS. Our findings suggest that disclosure of genetic risk of CHD together with conventional risk estimates is appreciated by patients. Whether this results in improved outcomes needs additional investigation. PMID:25708169

  11. Perceptions of genetic counseling services in direct-to-consumer personal genomic testing.

    PubMed

    Darst, B F; Madlensky, L; Schork, N J; Topol, E J; Bloss, C S

    2013-10-01

    To describe consumers' perceptions of genetic counseling services in the context of direct-to-consumer personal genomic testing is the purpose of this research. Utilizing data from the Scripps Genomic Health Initiative, we assessed direct-to-consumer genomic test consumers' utilization and perceptions of genetic counseling services. At long-term follow-up, approximately 14 months post-testing, participants were asked to respond to several items gauging their interactions, if any, with a Navigenics genetic counselor, and their perceptions of those interactions. Out of 1325 individuals who completed long-term follow-up, 187 (14.1%) indicated that they had spoken with a genetic counselor. The most commonly given reason for not utilizing the counseling service was a lack of need due to the perception of already understanding one's results (55.6%). The most common reasons for utilizing the service included wanting to take advantage of a free service (43.9%) and wanting more information on risk calculations (42.2%). Among those who utilized the service, a large fraction reported that counseling improved their understanding of their results (54.5%) and genetics in general (43.9%). A relatively small proportion of participants utilized genetic counseling after direct-to-consumer personal genomic testing. Among those individuals who did utilize the service, however, a large fraction perceived it to be informative, and thus presumably beneficial. PMID:23590221

  12. Assessment and upgrading of Alexandria University nursing students' knowledge and attitudes about genetic counseling.

    PubMed

    Sobhy, S I; Shoeib, F M; Zaki, N H

    2001-01-01

    The aim of this study was to study the effect of a teaching unit on upgrading university-nursing students' knowledge and attitudes about genetic counseling. The study used pre- test, posttest with no control group design. All nursing students (100) who accepted to participate in the study and enrolled in the Maternity and Gynecological-nursing course, during the second semester of the third academic year 1999-2000, at the Faculty of Nursing, Alexandria University, were involved in the study. A self-administered questionnaire sheet was used to assess nursing students' knowledge about genetic counseling, while a 3-point Likert-like scale was used to assess their attitudes towards it. The content of six-hours' teaching unit -about genetic counseling was taught to students by the researchers based on their needs. The study revealed a general lack of knowledge among nursing students regarding basic information about genetic counseling, where poor total score of knowledge was obtained by all of them in the pre-test. In addition, the pre-test revealed that negative attitude was found in about half of the nursing students. The teaching unit had an obvious effect on the nursing students' knowledge and attitudes regarding genetic counseling, as the total score of their knowledge and attitudes had improved after implementation of the teaching unit. Moreover, there was a significant relationship between nursing students' knowledge and attitudes towards genetic counseling before and after implementation of the teaching unit. Therefore, a negative attitude was found with poor total score of knowledge in the pre-test and positive attitude was found with good total score of knowledge in the post-test. So, there is a need to improve knowledge and change attitude of nursing students about genetic counseling. As well as genetic counseling should be included in the university-nursing curriculum and should be reviewed periodically to accommodate the relevant fast change in the science

  13. Study: Blacks Are Less Likely to Seek Genetic Counseling to Assess Cancer Risk

    ERIC Educational Resources Information Center

    Black Issues in Higher Education, 2005

    2005-01-01

    Black women with a family history of breast cancer are much less likely than Whites to get genetic counseling, in part because of the mistaken notion that the genetic form of the illness is a White woman's disease, researchers say. While breast cancer generally is more common among White women, some data suggest both races have similar rates of…

  14. Timing of Referral for Genetic Counseling and Genetic Testing in Patients with Ovarian, Fallopian Tube or Primary Peritoneal Carcinoma

    PubMed Central

    Novetsky, Akiva P.; Smith, Kylie; Babb, Sheri A.; Jeffe, Donna B.; Hagemann, Andrea R.; Thaker, Premal H.; Powell, Matthew A.; Mutch, David G.; Massad, L. Stewart; Zighelboim, Israel

    2013-01-01

    Objective To assess patients' preferences of the timing of referral for genetic counseling and testing in relation to the diagnosis, treatment and recurrence of ovarian, tubal, or primary peritoneal cancers. Methods/Materials Ninety-two patients who underwent counseling and testing by one certified genetic counselor were identified. Introductory letter, consent form and questionnaire were mailed to gather information regarding factors influencing the decision to undergo genetic counseling and testing and opinions regarding optimal timing. Medical records were reviewed for demographic and clinical data. Results Of 47 consenting women, 45 underwent testing. Eight (18%) were found to have a genetic mutation. Women lacked consensus about the optimal time for referral for and to undergo genetic testing, though women with stage I disease preferred testing after completion of chemotherapy. Most women were comfortable receiving the results by phone, but 1/3 preferred an office visit. Conclusions Patients' views regarding the best time to be referred for and undergo counseling and testing varied greatly. Due to the high mortality of this disease, clinicians should discuss referral early and personalize the timing to each patient. The subset of patients who prefer results disclosure during an office visit should be identified at the time of their initial counseling. PMID:23748176

  15. Online genetic counseling from the providers' perspective: counselors' evaluations and a time and cost analysis.

    PubMed

    Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V; van Langen, Irene M

    2016-08-01

    Telemedicine applications are increasingly being introduced in patient care in various disciplines, including clinical genetics, mainly to increase access to care and to reduce time and costs for patients and professionals. Most telegenetics reports describe applications in large geographical areas, showing positive patients' and professionals' satisfaction. One economic analysis published thus far reported lower costs than in-person care. We hypothesized that telegenetics can also be beneficial from the professional's view in relatively small geographical areas. We performed a pilot study in the Northern Netherlands of 51 home-based online counseling sessions for cardiogenetic and oncogenetic cascade screening, and urgent prenatal counseling. Previously, we showed patient satisfaction, anxiety, and perceived control of online counseling to be comparable to in-person counseling. This study focuses on expectations, satisfaction, and practical evaluations of the involved counselors, and the impact in terms of time and costs. Most counselors expected disadvantages of online counseling for themselves and their patients, mainly concerning insufficient non-verbal communication; few expected advantages for themselves. Afterwards, counselors additionally raised the disadvantage of insufficient verbal communication, and reported frequent technical problems. Their overall mean telemedicine satisfaction itemscore was 3.38 before, and 2.95 afterwards, being afterwards slightly below the minimum level we set for a satisfactory result. We estimated reduced time and costs by online counseling with about 8% and 10-12%, respectively. We showed online genetic counseling to be effective, feasible and cost-efficient, but technical improvements are needed to increase counselors' satisfaction. PMID:26785833

  16. International genetic counseling students' perspective on their training experience in the United States.

    PubMed

    Sabbadini, Marta; Naldi, Mariana; Packman, Wendy; Youngblom, Janey; Weil, Jon

    2013-12-01

    International students face social, psychological and academic challenges upon moving to a foreign country to pursue higher education. Clinical disciplines such as genetic counseling present additional challenges adapting to an unfamiliar health care system and different interactions and expectations with patients and colleagues. This study used semi-structured interviews to identify challenges that international genetic counseling students face during training in the United States. Eight international genetic counseling alumni who graduated from U.S.-accredited programs were interviewed. Participants stated that the U.S. academic system was unfamiliar-class participation and paper-writing required the greatest adjustment. There was a need for help in understanding social norms in academic settings. Clinically, they were unfamiliar with the dynamics and communication style of U.S. families. Non-native English speakers experienced greater difficulty in all areas. Most participants reported that they were uncomfortable asking for help in transitioning to life, study and work. Participants identified mentorship programs for international students as potentially useful in clarifying expectations in academic and clinical settings. These results may assist international students preparing to study genetic counseling in the U.S. and may help genetic counseling training programs identify the academic and clinical challenges faced by international students. PMID:24037028

  17. Genetic Counseling Supervisors' Self-Efficacy for Select Clinical Supervision Competencies.

    PubMed

    Finley, Sabra Ledare; Veach, Pat McCarthy; MacFarlane, Ian M; LeRoy, Bonnie S; Callanan, Nancy

    2016-04-01

    Supervision is a primary instructional vehicle for genetic counseling student clinical training. Approximately two-thirds of genetic counselors report teaching and education roles, which include supervisory roles. Recently, Eubanks Higgins and colleagues published the first comprehensive list of empirically-derived genetic counseling supervisor competencies. Studies have yet to evaluate whether supervisors possess these competencies and whether their competencies differ as a function of experience. This study investigated three research questions: (1) What are genetic counselor supervisors' perceptions of their capabilities (self-efficacy) for a select group of supervisor competencies?, (2) Are there differences in self-efficacy as a function of their supervision experience or their genetic counseling experience, and 3) What training methods do they use and prefer to develop supervision skills? One-hundred thirty-one genetic counselor supervisors completed an anonymous online survey assessing demographics, self-efficacy (self-perceived capability) for 12 goal setting and 16 feedback competencies (Scale: 0-100), competencies that are personally challenging, and supervision training experiences and preferences (open-ended). A MANOVA revealed significant positive effects of supervision experience but not genetic counseling experience on participants' self-efficacy. Although mean self-efficacy ratings were high (>83.7), participant comments revealed several challenging competencies (e.g., incorporating student's report of feedback from previous supervisors into goal setting, and providing feedback about student behavior rather than personal traits). Commonly preferred supervision training methods included consultation with colleagues, peer discussion, and workshops/seminars. PMID:26242467

  18. Quality issues concerning genetic counselling for presymptomatic testing: a European Delphi study.

    PubMed

    Paneque, Milena; Sequeiros, Jorge; Skirton, Heather

    2015-11-01

    Genetic counselling for presymptomatic testing is complex, bringing both ethical and practical questions. There are protocols for counselling but a scarcity of literature regarding quality assessment of such counselling practice. Generic quality assessment tools for genetic services are not specific to presymptomatic testing (PST). Therefore, the aim of this study was to identify aspects of effective counselling practice in PST for late-onset neurological disorders. We used the Delphi method to ascertain the views of relevant European experts in genetic counselling practice, ascertained via published literature and nomination by practitioners. Ethical approval was obtained. Questionnaires were sent electronically to a list of 45 experts, (Medical Doctors, Geneticists, Genetic Counsellors and Genetic Nurses), who each contributed to one to three rounds. In the first round, we provided a list of relevant indicators of quality of practice from a literature review. Experts were requested to evaluate topics in four domains: (a) professional standards; (b) service standards; (c) the consultant's perspective; and (d) protocol standards. We then removed items receiving less than 65% approval and added new issues suggested by experts. The second round was performed for the refinement of issues and the last round was aimed at achieving final consensus on high-standard indicators of quality, for inclusion in the assessment tool. The most relevant indicators were related to (1) consultant-centred practice and (2) advanced counselling and interpersonal skills of professionals. Defined high-standard indicators can be used for the development of a new tool for quality assessment of PST counselling practice. PMID:25689925

  19. Variable approaches to genetic counseling for microarray regions of homozygosity associated with parental relatedness.

    PubMed

    Grote, Lauren; Myers, Melanie; Lovell, Anne; Saal, Howard; Sund, Kristen Lipscomb

    2014-01-01

    SNP microarrays are capable of detecting regions of homozygosity (ROH) which can suggest parental relatedness. This study was designed to describe pre- and post-test counseling practices of genetics professionals regarding ROH, explore perceived comfort and ethical concerns in the follow-up of such results, demonstrate awareness of laws surrounding duty to report consanguinity and incest, and allow respondents to share their personal experiences with results suggesting a parental relationship. A 35 question survey was administered to 240 genetic counselors and geneticists who had ordered or counseled for SNP microarray. The results are presented using descriptive statistics. There was variation in both pre- and post-test counseling practices of genetics professionals. Twenty-five percent of respondents reported pre-test counseling that ROH can indicate parental relatedness. The most commonly reported ethical concern was disclosure of findings suggesting parental relatedness to parents of the patient; only 48.4% reported disclosing parental relatedness when indicated. Fifty-seven percent felt comfortable receiving results suggesting parental consanguinity while 17% felt comfortable receiving results suggesting parental incest. Twenty percent of respondents were extremely/moderately familiar with the laws about duty to report incest. Personal experiences in post-test counseling included both parental acknowledgement and denial of relatedness. This study highlights the differences in genetics professionals' pre- and post-test counseling practices, comfort, and experiences surrounding parental relatedness suggested by SNP microarray results. It identifies a need for professional organizations to offer guidance to genetics professionals about how to respond to and counsel for molecular results suggesting parental consanguinity or incest. PMID:24243712

  20. Comprehensive genetic counseling for families at risk for HNPCC: impact on distress and perceptions.

    PubMed

    Keller, M; Jost, R; Haunstetter, C Mastromarino; Kienle, P; Knaebel, H P; Gebert, J; Sutter, C; Knebel-Doeberitz, M v; Cremer, F; Mazitschek, U

    2002-01-01

    The aim of the study was to explore distress and health beliefs before and after comprehensive interdisciplinary counseling in families at risk for hereditary non-polyposis colorectal cancer (HNPCC). Results reported here were derived from a consecutive sample of 65 counselees [31 patients with colorectal cancer (CRC) and 34 unaffected at-risk persons] who participated in interdisciplinary counseling provided by human geneticists, surgeons, and psycho-oncologists before genetic testing. Data were collected from self-administered questionnaires before, as well as 4-6 weeks after, counseling. Distress and perceptions specific to HNPCC were assessed at both timepoints using standardized as well as author-derived instruments. Distress declined after counseling, as did worries related to HNPCC. An increase was found in personal belief in control of cancer risk, for instance, in the perceived efficacy of early detection of CRC. We also observed a trend toward greater anticipated ability to cope with a positive gene test after counseling. Changes after counseling were generally more pronounced for persons at risk, as compared to patients with cancer. The decrease in distress was partly attributable to an increase in personal self-confidence. One-third of the sample reported enhanced communication specific to hereditary disease within the family after counseling. A substantial minority, however, said they experienced increased worry and physical symptoms after counseling. Overall, counselees demonstrated less stress and perceived cancer threat as well as enhanced beliefs regarding personal control over cancer, suggesting an overall beneficial impact of comprehensive counseling. Further research is needed to identify those individuals most at risk for increased fear and worry related to HNPCC so that they may be most appropriately counseled. PMID:12537653

  1. Genomic counseling in the newborn period: experiences and views of genetic counselors.

    PubMed

    Nardini, Monica D; Matthews, Anne L; McCandless, Shawn E; Baumanis, Larisa; Goldenberg, Aaron J

    2014-08-01

    As newborn screening (NBS) technology expands, genetic counselors will become more involved in counseling for NBS results, including those potentially generated from whole exome sequencing (WES) and eventually whole genome sequencing (WGS). Members of the National Society of Genetic Counselors (NSGC) responded to an online survey (n=208) regarding genomic counseling in the context of NBS. The majority of participants (82.1 %) did not feel prepared to counsel for WGS results from NBS. Counselors with previous WES/WGS counseling experience felt more prepared (p= 0.005) to counsel for WGS results from NBS than those without WES/WGS experience. Overall, counselors expressed ethical and practical concerns regarding WGS in NBS, as well as a need for additional training regarding this application of the technology before it is implemented. Based on the results of this study, genetic counselors voice caution to the larger genetics community regarding expansion of NBS to incorporate genomic sequencing and advocate for additional education prior to initiating WGS into NBS. PMID:24659383

  2. Conceptualizing genetic counseling as psychotherapy in the era of genomic medicine

    PubMed Central

    Austin, Jehannine; Semaka, Alicia; Hadjipavlou, George

    2014-01-01

    Discussions about genetic contributions to medical illness have become increasingly commonplace. Physicians and other health-care providers in all quarters of medicine, from oncology to psychiatry, routinely field questions about the genetic basis of the medical conditions they treat. Communication about genetic testing and risk also enter into these conversations, as knowledge about genetics is increasingly expected of all medical specialists. Attendant to this evolving medical landscape is some uncertainty regarding the future of the genetic counseling profession, with the potential for both increases and decreases in demand for genetic counselors being possible outcomes. This emerging uncertainty provides the opportunity to explicitly conceptualize the potentially distinct value and contributions of the genetic counselor over and above education about genetics and risk that may be provided by other health professionals. In this paper we suggest conceptualizing genetic counseling as a highly circumscribed form of psychotherapy in which effective communication of genetic information is a central therapeutic goal. While such an approach is by no means new—in 1979 Seymour Kessler explicitly described genetic counseling as a “kind of psychotherapeutic encounter,” an “interaction with a psychotherapeutic potential”—we expand on his view, and provide research evidence in support of our position. We review available evidence from process and outcome studies showing that genetic counseling is a therapeutic encounter that cannot be reduced to one where the counselor performs a simple “conduit for information” function, without losing effectiveness. We then discuss potential barriers that may have impeded greater uptake of a psychotherapeutic model of practice, and close by discussing implications for practice. PMID:24841456

  3. 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. PMID:25120034

  4. 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

  5. A group approach to genetic counselling of cardiomyopathy patients: satisfaction and psychological outcomes sufficient for further implementation.

    PubMed

    Otten, Ellen; Birnie, Erwin; Ranchor, Adelita V; van Tintelen, J Peter; van Langen, Irene M

    2015-11-01

    The introduction of next-generation sequencing in everyday clinical genetics practise is increasing the number of genetic disorders that can be confirmed at DNA-level, and consequently increases the possibilities for cascade screening. This leads to a greater need for genetic counselling, whereas the number of professionals available to provide this is limited. We therefore piloted group genetic counselling for symptomatic cardiomyopathy patients at regional hospitals, to assess whether this could be an acceptable alternative to individual counselling. We performed a cohort study with pre- and post-counselling patient measurements using questionnaires, supplemented with evaluations of the group counselling format by the professionals involved. Patients from eight regional hospitals in the northern part of the Netherlands were included. Questionnaires comprised patient characteristics, psychological measures (personal perceived control (PPC), state and trait anxiety inventory (STAI)), and satisfaction with counsellors, counselling content and design. In total, 82 patients (mean age 57.5 year) attended one of 13 group sessions. Median PPC and STAI scores showed significantly higher control and lower anxiety after the counselling. Patients reported they were satisfied with the counsellors, and almost 75% of patients were satisfied with the group counselling. Regional professionals were also, overall, satisfied with the group sessions. The genetics professionals were less satisfied, mainly because of their perceived large time investment and less-than-expected group interaction. Hence, a group approach to cardiogenetic counselling is feasible, accessible, and psychologically effective, and could be one possible approach to counselling the increasing patient numbers in cardiogenetics. PMID:25649380

  6. The Long and Short of Genetic Counseling Summary Letters: A Case-control Study.

    PubMed

    Roggenbuck, J; Temme, R; Pond, D; Baker, J; Jarvis, K; Liu, M; Dugan, S; Mendelsohn, N J

    2015-08-01

    Genetic counseling summary letters are intended to reinforce information received during genetic counseling, but little information is available on patient/family responses to these letters. We conducted a case-control study to assess the effectiveness of two different letter formats. Parents of children receiving a new diagnosis were enrolled. The control group (n = 85) received a genetic counseling summary letter in a narrative format, 4-5 pages in length. After the control enrollment period, genetic counselors were trained by a professional medical writer to develop a concise letter format. The case group (n = 64) received a concise letter, approximately 1.5 pages in length, utilizing simple sentences, lay terms, and lists/bullet points. Parents completed a survey 4 weeks after the visit to rate the letter's format, usefulness, and their emotional reaction. Results show that parents in the case group rated the letter more highly (p = 0.023), particularly in the emotional response dimension (rating changes in anxiety, depression, fear, ability to cope, and confidence in response to the letter). Parents in the case group also rated the genetic counseling session more highly (p = 0.039). In the control group, parents without a college degree were more likely to rate the letter as too long and the level of medical detail as too high. In the case group, no significant differences were seen between parents with or without a college degree. These data suggest that a short genetic counseling summary letter is rated higher by parents, and is particularly associated with a more positive emotional reaction. A short letter format highlighting the basic facts related to the genetic condition may be more useful to parents of diverse educational backgrounds, and may support a positive emotional adaptation at the time of a new diagnosis. Genetic counselors may benefit from specific instruction in medical and educational writing. PMID:25502223

  7. Accurate measurements of dynamics and reproducibility in small genetic networks

    PubMed Central

    Dubuis, Julien O; Samanta, Reba; Gregor, Thomas

    2013-01-01

    Quantification of gene expression has become a central tool for understanding genetic networks. In many systems, the only viable way to measure protein levels is by immunofluorescence, which is notorious for its limited accuracy. Using the early Drosophila embryo as an example, we show that careful identification and control of experimental error allows for highly accurate gene expression measurements. We generated antibodies in different host species, allowing for simultaneous staining of four Drosophila gap genes in individual embryos. Careful error analysis of hundreds of expression profiles reveals that less than ∼20% of the observed embryo-to-embryo fluctuations stem from experimental error. These measurements make it possible to extract not only very accurate mean gene expression profiles but also their naturally occurring fluctuations of biological origin and corresponding cross-correlations. We use this analysis to extract gap gene profile dynamics with ∼1 min accuracy. The combination of these new measurements and analysis techniques reveals a twofold increase in profile reproducibility owing to a collective network dynamics that relays positional accuracy from the maternal gradients to the pair-rule genes. PMID:23340845

  8. Genetic testing and counseling in the case of an autism diagnosis: A caregivers perspective.

    PubMed

    Hens, Kristien; Peeters, Hilde; Dierickx, Kris

    2016-09-01

    The search for genes that can explain the development of autism is ongoing. At the same time, genetic counselling and genetic testing can be offered to families with a child diagnosed with autism. However, given the complexity of autism, both with respect to its aetiology as well as with respect to its heterogeneity, such genetic counselling and testing raises specific ethical questions regarding the aim and scope. In order to map these questions and opinions we interviewed 15 Belgian autism professionals. We found that they believed that genetic counselling and genetic testing have certain benefits for families confronted with an autism diagnosis, but also that direct benefit to the child is limited to those cases where a genetic finding offers a certain prognosis and intervention plan. In cases where autism is the result of a syndrome or a known genetic variant that is associated with other health problems, detection can also enable prevention of these health issues. Benefits of genetic testing, such as relief of guilt and reproductive choice, are primarily benefits to the parents, although indirectly they may affect the wellbeing of the person diagnosed. These benefits are associated with ethical questions. PMID:27544064

  9. An Exploratory Study of Employers' Attitudes Towards a Clinical Doctorate in Genetic Counseling.

    PubMed

    Valverde, Kathleen; Mueller, Rebecca; Paciotti, Breah; Conway, Laura

    2016-02-01

    Creation of an advanced degree in genetic counseling has been considered since the early 1980s. The Genetic Counseling Advanced Degree Task Force (GCADTF) was convened in 2012 to formally explore the potential suitability of a clinical doctorate (ClinD), though employer perspectives of advanced training were not part of the discussion. The conclusion of this group was that the field was not ready to move to an entry-level clinical doctorate at this time but that further education and research among other stakeholders was necessary (Nagy et al. 2014). In this study, we describe employers' perspectives on developing a clinical doctorate in genetic counseling based upon thirty audio-recorded semi-structured phone interviews that were transcribed verbatim and qualitatively analyzed. Overall, employers expressed concerns regarding the economic viability of ClinD training but envisioned expanded roles for genetic counselors (especially in areas of education and research) and enhanced credibility. While some employers reported that they would provide flexibility and tuition assistance for acquisition of a ClinD, for many employers, support was contingent on perceived value of the degree. Some employers were not clear about the difference between a ClinD and a PhD, suggesting that there is a need for educating employers about advanced degree options for the genetic counseling field. Future research could include investigating employer attitudes about market needs, envisioned roles, and compensation formulas for counselors with a ClinD or other forms of advanced training. PMID:26165833

  10. An investigation of relationships among genetic counselors' supervision skills and multicultural counseling competence.

    PubMed

    Kyung Lee, Hyun; McCarthy Veach, Patricia; LeRoy, Bonnie S

    2009-06-01

    As racial and ethnic diversity increase in the U.S., genetic counselor multicultural competence is growing in importance. In mental health counseling, supervisor multicultural competence has been shown to promote supervisees' multicultural competence. Moreover, developmentally-advanced supervisors tend to be more effective. This study was designed to investigate relationships among genetic counselor supervisors' perceived multicultural counseling competence and development as supervisors, and their ability to evaluate a supervisee's multicultural skills. One hundred twenty-two supervisors completed an online survey of demographics, the Multicultural Counseling Knowledge and Awareness Scale, the Supervisor Development Scale, and a hypothetical vignette in which they evaluated a supervisee's multicultural skills and provided written feedback. Stepwise multiple regression yielded five significant predictors accounting for 31% of the variance in accuracy of supervisor evaluations of the student: multicultural awareness, multicultural knowledge, age, supervision experience, and supervisor development. Six feedback themes were identified from written responses. Practice and research suggestions are provided. PMID:19301109

  11. Genetic counseling for patients with nonsyndromic hearing impairment directed by gene analysis

    PubMed Central

    MA, DINGYUAN; ZHANG, JINGJING; LUO, CHUNYU; LIN, YING; JI, XIUQING; HU, PING; XU, ZHENGFENG

    2016-01-01

    The aim of the present study was to investigate the genetic etiology of patients with nonsyndromic hearing impairment through gene analysis, and provide accurate genetic counseling and prenatal diagnosis for deaf patients and families with deaf children. Previous molecular etiological studies have demonstrated that the most common molecular changes in Chinese patients with nonsyndromic hearing loss (NSHL) involved gap junction protein β 2, solute carrier family 26, member 4 (SLC26A4), and mitochondrial DNA 12S rRNA. A total of 117 unrelated NSHL patients were included. Mutation screening was performed by Sanger sequencing in GJB2, 12S rRNA, and the hot-spot regions of SLC26A4. In addition, patients with a single mutation of SLC26A4 in the hot-spot regions underwent complete exon sequencing to identify a mutation in the other allele. A total of 36 of the 117 deaf patients were confirmed to have two pathogenic mutations, which included 4 deaf couples, husband or wife in 11 deaf couples and 17 deaf individuals. In addition, prenatal diagnoses was performed in 7 pregnant women at 18–21 weeks gestation who had previously given birth to a deaf child, and the results showed that two fetal genotypes were the same as the proband's genotypes, four fetuses carried one pathogenic gene from their parents, and one fetus was identified to have no mutations. Taken together, the genetic testing of deaf patients can provide reasonable guidance to deaf patients and families with deaf children. PMID:26783197

  12. Professional Issues of International Genetic Counseling Students Educated in the United States.

    PubMed

    Akgumus, Gozde; Shah, Divya; Higgs, Lydia; Valverde, Kathleen

    2016-08-01

    International students have unique personal and academic challenges during their training in genetic counseling programs across the United States (U.S.). Previous research has explored their motivations and experiences; however, there is scant research on how their international status affects the post-graduate experience. The current study used semi-structured phone interviews to explore the professional issues that international students face throughout their educational and professional careers. Twenty-six participants were interviewed including international genetic counseling students in their second years of training and international genetic counselors who graduated from a U.S.-accredited program. Participants included six, second-year students, twelve genetic counselors employed in the U.S., six employed in Canada, and one employed in the United Kingdom (U.K.). Qualitative analysis of interviews captured the common experiences and challenges international students faced during their training and post-graduation. Participants stated that they applied to programs in the U.S. because there is wide transferability of qualifications across the world, and there is limited or no opportunities for masters level genetic counseling training in their home country. Most participants who had applied for jobs in the U.S. experienced difficulties regarding unfamiliarity of human resources (HR) departments and Border Control Officers with international genetic counselors (GCs) and their visa requirements. The results suggest that currently there are insufficient job resources tailored to international genetic counselors, and an inadequate availability of peer support. The results also speak to the need to develop resources for prospective international students and for international GCs seeking jobs, and establishment of a peer support network. These resources may also provide assistance to genetic counseling training programs and employers to address the challenges faced

  13. Examining the family-centred approach to genetic testing and counselling among UK Pakistanis: a community perspective.

    PubMed

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

    2013-01-01

    WHO advice suggests a family-centred approach for managing the elevated risk of recessively inherited disorders in consanguineous communities, whilst emerging policy recommends community engagement as an integral component of genetic service development. This paper explores the feasibility of the family-centred approach in the UK Pakistani origin community. The study took place within a context of debate in the media, professional and lay circles about cousin marriage causing disability in children. Using qualitative methods, a total of six single-sex focus group discussions (n = 50) were conducted in three UK cities with a high settlement of people of Pakistani origin. Tape-recorded transcripts were analysed using framework analysis. Kinship networks within Pakistani origin communities are being sustained and marriage between close blood relatives continues to take place alongside other marriage options. Study participants were critical of what was perceived as a prevalent notion that cousin marriage causes disability in children. They were willing to discuss cousin marriage and disability, share genetic information and engage with genetic issues. A desire for accurate information and a public informed about genetic issues was articulated whilst ineffective communication of genetic risk information undermined professionals in their support role. This study suggests a community that is embracing change, one in which kinship networks are still active and genetic information exchange is taking place. At the community level, these are conditions supportive of the family-centred approach to genetic testing and counselling. PMID:23086468

  14. Genetic counseling graduate student debt: impact on program, career and life choices.

    PubMed

    Kuhl, Ashley; Reiser, Catherine; Eickhoff, Jens; Petty, Elizabeth M

    2014-10-01

    The cost of education is rising, increasing student financial aid and debt for students pursuing higher education. A few studies have assessed the impact of student debt in medicine, physical therapy and social work, but little is known about the impact of student debt on genetic counseling students and graduates. To address this gap in knowledge, a web-based study of 408 recent alumni of genetic counseling programs in North America was conducted to assess the impact of student debt on program, career and life choices. Over half (63 %; n = 256/408) of the participants reported that loans were extremely important in their ability to attend their training program, with most using subsidized loans no longer available to current graduate students. While participants were generally satisfied with their genetic counseling education, 83 % (n = 282/342) of participants with student debt reported feeling burdened by their debt, which had a median of $40,000-$50,000. This debt is relatively close to the median starting salary reported by survey participants ($45,000-$50,000), breaching the "20-10 rule" that states student debt should not exceed 20 % of annual net income. In response to this critical issue, we propose recommendations for the genetic counseling field that may help alleviate student debt impact and burden. PMID:24578121

  15. Genetic Counseling Graduate Student Debt: Impact on Program, Career and Life Choices

    PubMed Central

    Kuhl, Ashley; Reiser, Catherine; Eickhoff, Jens; Petty, Elizabeth M

    2015-01-01

    The cost of education is rising, increasing student financial aid and debt for students pursuing higher education. A few studies have assessed the impact of student debt in medicine, physical therapy and social work, but little is known about the impact of student debt on genetic counseling students and graduates. To address this gap in knowledge, a web-based study of 408 recent alumni of genetic counseling programs in North America was conducted to assess the impact of student debt on program, career and life choices. Over half (63%; n=256/408) of the participants reported that loans were extremely important in their ability to attend their training program, with most using subsidized loans no longer available to current graduate students. While participants were generally satisfied with their genetic counseling education, 83% (n=282/342) of participants with student debt reported feeling burdened by their debt, which had a median of $40,000-$50,000. This debt is relatively close to the median starting salary reported by survey participants ($45,000-$50,000), breaching the “20-10 rule” that states student debt should not exceed 20% of annual net income. In response to this critical issue, we propose recommendations for the genetic counseling field that may help alleviate student debt impact and burden. PMID:24578121

  16. How Can Psychological Science Inform Research About Genetic Counseling for Clinical Genomic Sequencing?

    PubMed Central

    Rini, Christine; Bernhardt, Barbara A.; Roberts, J. Scott; Christensen, Kurt D.; Evans, James P.; Brothers, Kyle B.; Roche, Myra I.; Berg, Jonathan S.; Henderson, Gail E.

    2016-01-01

    Next generation genomic sequencing technologies (including whole genome or whole exome sequencing) are being increasingly applied to clinical care. Yet, the breadth and complexity of sequencing information raise questions about how best to communicate and return sequencing information to patients and families in ways that facilitate comprehension and optimal health decisions. Obtaining answers to such questions will require multidisciplinary research. In this paper, we focus on how psychological science research can address questions related to clinical genomic sequencing by explaining emotional, cognitive, and behavioral processes in response to different types of genomic sequencing information (e.g., diagnostic results and incidental findings). We highlight examples of psychological science that can be applied to genetic counseling research to inform the following questions: (1) What factors influence patients' and providers' informational needs for developing an accurate understanding of what genomic sequencing results do and do not mean?; (2) How and by whom should genomic sequencing results be communicated to patients and their family members?; and (3) How do patients and their families respond to uncertainties related to genomic information? PMID:25488723

  17. Counsellee's experience of cancer genetic counselling with pedigrees that automatically incorporate genealogical and cancer database information.

    PubMed

    Stefansdottir, Vigdis; Johannsson, Oskar Th; Skirton, Heather; Jonsson, Jon J

    2016-07-01

    While pedigree drawing software is often utilised in genetic services, the use of genealogical databases in genetic counselling is unusual. This is mainly because of the unavailability of such databases in most countries. Electronically generated pedigrees used for cancer genetic counselling in Iceland create pedigrees that automatically incorporate information from a large, comprehensive genealogy database and nation-wide cancer registry. The aim of this descriptive qualitative study was to explore counsellees' experiences of genetic services, including family history taking, using these electronically generated pedigrees. Four online focus groups with 19 participants were formed, using an asynchronous posting method. Participants were encouraged to discuss their responses to questions posted on the website by the researcher. The main themes arising were motivation, information and trust, impact of testing and emotional responses. Most of the participants expressed trust in the method of using electronically generated pedigrees, although some voiced worries about information safety. Many experienced worry and anxiety while waiting for results of genetic testing, but limited survival guilt was noted. Family communication was either unchanged or improved following genetic counselling. The use of electronically generated pedigrees was well received by participants, and they trusted the information obtained via the databases. Age did not seem to influence responses. These results may be indicative of the particular culture in Iceland, where genealogical information is well known and freely shared. Further studies are needed to determine whether use of similar approaches to genealogical information gathering may be acceptable elsewhere. PMID:27372834

  18. Linking Genetic Counseling Content to Short-Term Outcomes in Individuals at Elevated Breast Cancer Risk

    PubMed Central

    Ellington, Lee; Schoenberg, Nancy; Agarwal, Parul; Jackson, Thomas; Dickinson, Stephanie; Abraham, Jame; Paskett, Electra D.; Leventhal, Howard; Andrykowski, Michael

    2014-01-01

    Few studies have linked actual genetic counseling content to short-term outcomes. Using the Self-regulation Model, the impact of cognitive and affective content in genetic counseling on short-term outcomes was studied in individuals at elevated risk of familial breast-ovarian cancer. Surveys assessed dependent variables: distress, perceived risk, and 6 knowledge measures (Meaning of Positive Test; Meaning of Negative Test; Personal Behavior; Practitioner Knowledge; Mechanisms of Cancer Inheritance; Frequency of Inherited Cancer) measured at pre- and post-counseling. Proportion of participant cognitive and affective and counselor cognitive and affective content during sessions (using LIWC software) were predictors in regressions. Knowledge increased for 5 measures and decreased for Personal Behavior, Distress and Perceived Risk. Controlling for age and education, results were significant/marginally significant for three measures. More counselor content was associated with decreases in knowledge of Personal Behavior. More participant and less counselor affective content was associated with gains in Practitioner Knowledge. More counselor cognitive, and interaction of counselor cognitive and affective content, were associated with higher perceived risk. Genetic counselors dominate the content of counseling sessions. Therefore, their content is tied more closely to short term outcomes than participant content. A lack of patient communication in sessions may pose problems for understanding of complex concepts. PMID:24671341

  19. Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors.

    PubMed

    Bennett, Robin L; Motulsky, Arno G; Bittles, Alan; Hudgins, Louanne; Uhrich, Stefanie; Doyle, Debra Lochner; Silvey, Kerry; Scott, C Ronald; Cheng, Edith; McGillivray, Barbara; Steiner, Robert D; Olson, Debra

    2002-04-01

    The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals of1. providing preconception reproductive options2. improving pregnancy outcome and identifying reproductive choices3. reducing morbidity and mortality in the 1st years of life, and4. respecting psychosocial and multicultural issues.The recommendations are the opinions of a multicenter working group (the Consanguinity Working Group (CWG)) with expertise in genetic counseling, medical genetics, biochemical genetics, genetic epidemiology, pediatrics, perinatology, and public health genetics, which was convened by the National Society of Genetic Counselors (NSGC). The consensus of the CWG and NSGC reviewers is that beyond a thorough medical family history with follow-up of significant findings, no additional preconception screening is recommended for consanguineous couples. Consanguineous couples should be offered similar genetic screening as suggested for any couple of their ethnic group. During pregnancy, consanguineous couples should be offered maternal-fetal serum marker screening and high-resolution fetal ultrasonography. Newborns should be screened for impaired hearing and detection of treatable inborn errors of metabolism. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations. PMID:26141656

  20. The Response of Blind and Partially Sighted Teenagers to Genetic Counselling: First Study in the West Midlands.

    ERIC Educational Resources Information Center

    Porter, Janice A.; And Others

    1989-01-01

    The article describes the response of 55 blind and partially sighted teenagers to genetic counseling and outlines their knowledge of their disability and their attitudes towards marriage and parenthood. It was concluded that the counseling was not cost-effective though such services were welcomed by the teenagers. (Author/DB)

  1. Nondirectiveness and its lay interpretations: the effect of counseling style, ethnicity and culture on attitudes towards genetic counseling among Jewish and Bedouin respondents in Israel.

    PubMed

    Raz, Aviad E; Atar, Marcela

    2003-08-01

    To evaluate the effects of ethnicity, culture, and counseling style on the interpretation of nondirectiveness in genetic counseling, a questionnaire containing premarital and prenatal case vignettes in two versions (pessimistic/optimistic) was administered to 281 Jewish and 133 Bedouin respondents. The first study population was comprised of Jewish students enrolled in a university and a community college in the Negev (southern part of Israel). The second study population was comprised of Muslim-Bedouin college students from the same area. The majority of Jewish respondents interpreted the nondirective message as intended by counselors, while the majority of Bedouin respondents did not. Counseling style was found to have a statistically significant effect on the interpretation of the general role of counseling. Gender and susceptibility were not found to have a significant effect on interpretation. Group differences are analyzed through a cultural lens in which different interpretive norms can generate expectations for either nondirectiveness or directiveness. PMID:14682356

  2. Counseling Implications of Genetic Research: A Dialogue with Thomas Bouchard.

    ERIC Educational Resources Information Center

    Skovholt, Thomas M.

    1990-01-01

    Presents interview with Thomas Bouchard, a leading researcher of identical twins reared apart. Describes major themes in the Minnesota twin research. Claims, although genetic influence is central, Bouchard pleas for the impact of environmental factors in optimal human development. Includes Bouchard's surprising experiences, current focus, and…

  3. Doctor's expertise and managing discrepant information from other sources in genetic counseling: a conversation analytic perspective.

    PubMed

    Lehtinen, Esa; Kääriäinen, Helena

    2005-12-01

    The study examines a recurrent interactional pattern in genetic counseling. It describes clinical geneticists' responses in situations in which clients have presented information from other sources that is potentially discrepant with information given by the doctor. The data consists of 12 video-recorded sessions of genetic counseling in Finland, and the method is conversation analysis. There are two primary ways the doctors respond: either they accept the client's information as such, but show that it is not discrepant with the doctor's information, or they reject the client's information. In the latter case they mitigate the 'wrongness' of the client's information. The clinical geneticists seem to be working with a dilemma: they need to find a balance between ensuring correct understanding of the information and showing respect for the expertise of others. A particularly complex case is also analyzed and reflected on. PMID:16388324

  4. Genetic counseling of families with Best macular dystrophy.

    PubMed

    Bard, L A; Cross, H E

    1975-01-01

    We have examined 233 members of eight families with BMD. Of these, 169 were also examined with EOG. Sibships wherer greater than or equal to 80% of members were examined clinically and with EOG totaled 39. The results established both the validity and reliability of EOG testing in detecting people genetically affected with BMD. Hyperopia is established as an important manifestation of the disease. The visual prognosis of BMD is described. PMID:1209822

  5. Elaboration of the definition of genetic counseling into a model for counselee decision-making.

    PubMed

    Bringle, R G; Antley, R M

    1980-01-01

    Genetic counselors are generally trained in genetics only and often have no basis for determining when a counselee has made an informed decision and the counselor's function is complete. A theory of genetic counseling (GC) is offered which interrelates genetic information, psychological responses, learning theory, and decision making, reflecting a shift from a eugenic orientation to an orientation concerned with the physical and mental well-being of counselees. GC is 1st defined as enabling the counselee to comprehend the medical facts of genetic disorders, heredity, risks, and alternatives, as well as to make a healthy adjustment to a family member's disorder and risk of recurrence. The process of learning is broken down into a hierarchical relationship between acquisition, understanding, and personalization of facts, and applied to the GC situation; e.g. "the options are as follows;" "they can be exercised by couples in certain ways;" and "we have the following choices to make." Personalization of knowledge means integration into one's own value system where it will affect decisions made, a process affected by factors such as stress. Often, the information provided by GC is not the only information the counselee possesses, and it will be integrated with other conceptions. Normative social influences (e.g. a family's attitude towards abortion) affect the behavioral intention. And finally, the behavioral intention is not always equivalent to the actual behavior. These process are all related to the way in which a family deals with the stress caused by a genetic disorder. GC outcomes are easier to measure than those of psychological counseling. Extending the model to clinical application implies 1) assessment; 2) setting objectives; 3) counseling; and 4) evaluation. PMID:7345579

  6. Measuring the Effectiveness of a Genetic Counseling Supervision Training Conference.

    PubMed

    Atzinger, Carrie L; He, Hua; Wusik, Katie

    2016-08-01

    Genetic counselors who receive formal training report increased confidence and competence in their supervisory roles. The effectiveness of specific formal supervision training has not been assessed previously. A day-long GC supervision conference was designed based on published supervision competencies and was attended by 37 genetic counselors. Linear Mixed Model and post-hoc paired t-test was used to compare Psychotherapy Supervisor Development Scale (PSDS) scores among/between individuals pre and post conference. Generalized Estimating Equation (GEE) model and post-hoc McNemar's test was used to determine if the conference had an effect on GC supervision competencies. PSDS scores were significantly increased 1 week (p < 0.001) and 6 months (p < 0.001) following the conference. For three supervision competencies, attendees were more likely to agree they were able to perform them after the conference than before. These effects remained significant 6 months later. For the three remaining competencies, the majority of supervisors agreed they could perform these before the conference; therefore, no change was found. This exploratory study showed this conference increased the perceived confidence and competence of the supervisors who attended and increased their self-reported ability to perform certain supervision competencies. While still preliminary, this supports the idea that a one day conference on supervision has the potential to impact supervisor development. PMID:26637300

  7. Patient Perceptions of Telephone vs. In-Person BRCA1/BRCA2 Genetic Counseling.

    PubMed

    Peshkin, Beth N; Kelly, Scott; Nusbaum, Rachel H; Similuk, Morgan; DeMarco, Tiffani A; Hooker, Gillian W; Valdimarsdottir, Heiddis B; Forman, Andrea D; Joines, Jessica Rispoli; Davis, Claire; McCormick, Shelley R; McKinnon, Wendy; Graves, Kristi D; Isaacs, Claudine; Garber, Judy; Wood, Marie; Jandorf, Lina; Schwartz, Marc D

    2016-06-01

    Telephone genetic counseling (TC) for hereditary breast/ovarian cancer risk has been associated with positive outcomes in high risk women. However, little is known about how patients perceive TC. As part of a randomized trial of TC versus usual care (UC; in-person genetic counseling), we compared high risk women's perceptions of: (1) overall satisfaction with genetic counseling; (2) convenience; (3) attentiveness during the session; (4) counselor effectiveness in providing support; and (5) counselor ability to recognize emotional responses during the session. Among the 554 participants (TC, N = 272; UC, N = 282), delivery mode was not associated with self-reported satisfaction. However, TC participants found counseling significantly more convenient than UC participants (OR = 4.78, 95 % CI = 3.32, 6.89) while also perceiving lower levels of support (OR = 0.56, 95 % CI = 0.40-0.80) and emotional recognition (OR = 0.53, 95 % CI = 0.37-0.76). In exploratory analyses, we found that non-Hispanic white participants reported higher counselor support in UC than in TC (69.4 % vs. 52.8 %; OR = 3.06, 95 % CI = 1.39-6.74), while minority women perceived less support in UC vs. TC (58.3 % vs. 38.7 %; OR = 0.80, 95 % CI = 0.39-1.65). We discuss potential research and practice implications of these findings which may further improve the effectiveness and utilization of TC. PMID:26455498

  8. Melanoma Genetic Testing, Counseling, and Adherence to Skin Cancer Prevention and Detection Behaviors

    PubMed Central

    Glanz, Karen; Volpicelli, Kathryn; Kanetsky, Peter A.; Ming, Michael E.; Schuchter, Lynn M.; Jepson, Christopher; Domchek, Susan M.; Armstrong, Katrina

    2013-01-01

    Background Little is known about the impact of knowledge of CDKN2A and MC1R genotype on melanoma prevention behaviors like sun avoidance and skin examination in the context of familial melanoma. Methods 73 adults with a family history of melanoma were randomly assigned to be offered individualized CDKN2A and MC1R genotyping results in the context of a genetic counseling session, or the standard practice of not being offered counseling or disclosure of genotyping results. Mixed effects or longitudinal logistic models were used to determine whether the intervention affected change in sun protection habits, skin examinations and perception and beliefs related to melanoma risk, prevention, and genetic counseling. Results All participants in the intervention group who attended genetic counseling sessions chose to receive their test results. From baseline to follow-up, participants in the intervention group reported an increase in the frequency of skin self-examinations compared to a slight decrease in the control group (p=0.002). Participants in the intervention group reported a smaller decrease in frequency of wearing a shirt with long sleeves than did participants in the control group (p =0.047). No effect of the intervention was noted for other outcomes. Conclusions Feedback of CDKN2A and MC1R genotype among families without known pathogenic CDKN2A mutations does not appear to decrease sun protection behaviors. Impact While disclosure of CDKN2A and MC1R genotype did not have negative effects on prevention, the benefits of communicating this information remain unclear. The small number of families who tested positive for CDKN2A mutations in this study is a limitation. PMID:23392000

  9. Deaf Adults’ Reasons for Genetic Testing Depend on Cultural Affiliation: Results From a Prospective, Longitudinal Genetic Counseling and Testing Study

    PubMed Central

    Boudreault, Patrick; Baldwin, Erin E.; Fox, Michelle; Dutton, Loriel; Tullis, LeeElle; Linden, Joyce; Kobayashi, Yoko; Zhou, Jin; Sinsheimer, Janet S.; Sininger, Yvonne; Grody, Wayne W.; Palmer, Christina G. S.

    2010-01-01

    This article examines the relationship between cultural affiliation and deaf adults’ motivations for genetic testing for deafness in the first prospective, longitudinal study to examine the impact of genetic counseling and genetic testing on deaf adults and the deaf community. Participants (n = 256), classified as affiliating with hearing, Deaf, or both communities, rated interest in testing for 21 reasons covering 5 life domains. Findings suggest strong interest in testing to learn why they are deaf, but little interest in using it for decisions about a partner or having children. Culturally mediated variation was also demonstrated. Deaf and both communities groups viewed testing as useful for more life domains than the hearing community group. Deaf and both communities had similar motivations related to further exploration, understanding, or strengthening of deafness. Motivations related to “hearing” were also relevant for both communities. We conclude that cultural affiliation is an important factor for constructing motivations for genetic testing. PMID:20488870

  10. 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.

  11. The knowledge value-chain of genetic counseling for breast cancer: an empirical assessment of prediction and communication processes.

    PubMed

    Amara, Nabil; Blouin-Bougie, Jolyane; Jbilou, Jalila; Halilem, Norrin; Simard, Jacques; Landry, Réjean

    2016-01-01

    The aim of this paper is twofold: to analyze the genetic counseling process for breast cancer with a theoretical knowledge transfer lens and to compare generalists, medical specialists, and genetic counselors with regards to their genetic counseling practices. This paper presents the genetic counseling process occurring within a chain of value-adding activities of four main stages describing health professionals' clinical practices: (1) evaluation, (2) investigation, (3) information, and (4) decision. It also presents the results of a cross-sectional study based on a Canadian medical doctors and genetic counselors survey (n = 176) realized between July 2012 and March 2013. The statistical exercise included descriptive statistics, one-way ANOVA and post-hoc tests. The results indicate that even though all types of health professionals are involved in the entire process of genetic counseling for breast cancer, genetic counselors are more involved in the evaluation of breast cancer risk, while medical doctors are more active in the decision toward breast cancer risk management strategies. The results secondly demonstrate the relevance and the key role of genetic counselors in the care provided to women at-risk of familial breast cancer. This paper presents an integrative framework to understand the current process of genetic counseling for breast cancer in Canada, and to shed light on how and where health professionals contribute to the process. It also offers a starting point for assessing clinical practices in genetic counseling in order to establish more clearly where and to what extent efforts should be undertaken to implement future genetic services. PMID:26334522

  12. Impact of Genetic Counseling and Testing on Altruistic Motivations to Test for BRCA1/2: a Longitudinal Study.

    PubMed

    Garg, Rahul; Vogelgesang, Joseph; Kelly, Kimberly

    2016-06-01

    Despite the importance of altruism in an individual's participation in genetic counseling and testing, little research has explored the change in altruistic motivations to test over time. This study analyzed altruistic motivations to test and change in altruistic motivations after genetic counseling and testing among individuals (N = 120) at elevated risk for BRCA1/2 mutations. The perceived benefits of genetic testing were assessed and utilized in a mixed-methods, repeated measures design at three time points: pre-counseling, counseling and post-genetic testing, along with transcripts of genetic counseling sessions. Qualitative analysis using an immersion/crystallization method resulted in six common perceived benefits of testing: cancer prevention, awareness, family's survival, relief from anxiety, for science, and future planning. Perceived benefits were then coded into three categories according to Hamilton's kin selection theory: altruistic motivation, personal motivation, and motivation for mutual benefit. At pre-counseling, those with a personal cancer history (p = 0.003) and those with one or more children (p = 0.013), were significantly more likely to cite altruistic motivations to test. Altruistic motivations significantly increased post-counseling (p = 0.01) but declined post-testing (p < 0.001). Labov's narrative analysis further elucidated the context of altruistic and personal motivations. The possibility of a positive test result might have led those with personal history of cancer to have altruistic motivations for testing. Genetic counseling may have increased altruistic motivations to help family and may be a prime opportunity to discuss other forms of altruism. PMID:26578231

  13. On the accurate construction of consensus genetic maps.

    PubMed

    Wu, Yonghui; Close, Timothy J; Lonardi, Stefano

    2008-01-01

    We study the problem of merging genetic maps, when the individual genetic maps are given as directed acyclic graphs. The problem is to build a consensus map, which includes and is consistent with all (or, the vast majority of) the markers in the individual maps. When markers in the input maps have ordering conflicts, the resulting consensus map will contain cycles. We formulate the problem of resolving cycles in a combinatorial optimization framework, which in turn is expressed as an integer linear program. A faster approximation algorithm is proposed, and an additional speed-up heuristic is developed. According to an extensive set of experimental results, our tool is consistently better than JOINMAP, both in terms of accuracy and running time. PMID:19642288

  14. Genetic counseling for FTD/ALS caused by the C9ORF72 hexanucleotide expansion

    PubMed Central

    2012-01-01

    Frontotemporal degeneration (FTD) and amyotrophic lateral sclerosis (ALS) are related but distinct neurodegenerative diseases. The identification of a hexanucleotide repeat expansion in a noncoding region of the chromosome 9 open reading frame 72 (C9ORF72) gene as a common cause of FTD/ALS, familial FTD, and familial ALS marks the culmination of many years of investigation. This confirms the linkage of disease to chromosome 9 in large, multigenerational families with FTD and ALS, and it promotes deeper understanding of the diseases' shared molecular FTLD-TDP pathology. The discovery of the C9ORF72 repeat expansion has significant implications not only for familial FTD and ALS, but also for sporadic disease. Clinical and pathological correlates of the repeat expansion are being reported but remain to be refined, and a genetic test to detect the expansion has only recently become clinically available. Consequently, individuals and their families who are considering genetic testing for the C9ORF72 expansion should receive genetic counseling to discuss the risks, benefits, and limitations of testing. The following review aims to describe genetic counseling considerations for individuals at risk for a C9ORF72 repeat expansion. PMID:22808918

  15. AB085. Imprinting mutation of CDKN1C in Beckwith-Wiedemann Syndrome: inheritance, genetic counselling and surveillance

    PubMed Central

    Chew, Hui Bein; Ong, Winnie Peitee; Haniffa, Muzhirah Aisha Md; Leong, Huey Yin; Krishnan, Thurga; Poh, Rozaida Yuen Ying; Thong, Meow Keong; Ishak, Mohd Taufik; Keng, Wee Teik

    2015-01-01

    , molecular diagnosis is of utmost importance for accurate genetic counselling because of the high recurrence risk of maternally inherited CDKN1C point mutation. Surveillance on follow-up can also be tailored with the knowledge of molecular diagnosis as CDKN1C mutation is associated with the lowest risk of embryonal tumours commonly associated with the other genotype. In this report, we have shown a phenotypically unaffected mother with a pathogenic CDKN1C mutation. This mutation could have occurred de novo or inherited from her father as it is silent in the paternal allele. In the latter scenario, genetic counselling should be offered to all her sisters so that they may make informed choices with regards to their reproduction.

  16. Accurate construction of consensus genetic maps via integer linear programming.

    PubMed

    Wu, Yonghui; Close, Timothy J; Lonardi, Stefano

    2011-01-01

    We study the problem of merging genetic maps, when the individual genetic maps are given as directed acyclic graphs. The computational problem is to build a consensus map, which is a directed graph that includes and is consistent with all (or, the vast majority of) the markers in the input maps. However, when markers in the individual maps have ordering conflicts, the resulting consensus map will contain cycles. Here, we formulate the problem of resolving cycles in the context of a parsimonious paradigm that takes into account two types of errors that may be present in the input maps, namely, local reshuffles and global displacements. The resulting combinatorial optimization problem is, in turn, expressed as an integer linear program. A fast approximation algorithm is proposed, and an additional speedup heuristic is developed. Our algorithms were implemented in a software tool named MERGEMAP which is freely available for academic use. An extensive set of experiments shows that MERGEMAP consistently outperforms JOINMAP, which is the most popular tool currently available for this task, both in terms of accuracy and running time. MERGEMAP is available for download at http://www.cs.ucr.edu/~yonghui/mgmap.html. PMID:20479505

  17. Pre- and post-test genetic counseling for chromosomal and Mendelian disorders.

    PubMed

    Fonda Allen, Jill; Stoll, Katie; Bernhardt, Barbara A

    2016-02-01

    Genetic carrier screening, prenatal screening for aneuploidy, and prenatal diagnostic testing have expanded dramatically over the past 2 decades. Driven in part by powerful market forces, new complex testing modalities have become available after limited clinical research. The responsibility for offering these tests lies primarily on the obstetrical care provider and has become more burdensome as the number of testing options expands. Genetic testing in pregnancy is optional, and decisions about undergoing tests, as well as follow-up testing, should be informed and based on individual patients' values and needs. Careful pre- and post-test counseling is central to supporting informed decision-making. This article explores three areas of technical expansion in genetic testing: expanded carrier screening, non-invasive prenatal screening for fetal aneuploidies using cell-free DNA, and diagnostic testing using fetal chromosomal microarray testing, and provides insights aimed at enabling the obstetrical practitioner to better support patients considering these tests. PMID:26718445

  18. Impact of Genetic Counseling and Connexin-26 and Connexin-30 Testing on Deaf Identity and Comprehension of Genetic Test Results in a Sample of Deaf Adults: A Prospective, Longitudinal Study

    PubMed Central

    Palmer, Christina G. S.; Boudreault, Patrick; Baldwin, Erin E.; Sinsheimer, Janet S.

    2014-01-01

    Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results. PMID:25375116

  19. 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. PMID:26130486

  20. Constructing an account by contrast in counselling for childhood genetic testing.

    PubMed

    Sarangi, Srikant; Clarke, Angus

    2002-01-01

    Genetic counselling sessions are rich and complex sites of accounting practices for decision-making in which clinicians are meant to facilitate rather than control the decisions made by their clients. This often means the adoption of a non-directive stance as counsellors lay out various possible courses of action from which the client can choose, while both client and counsellor may need to bear in mind a wide range of practical and ethical issues. With regard to childhood predictive testing, the complexity of decision-making is manifest not only in relation to the severity of the genetic condition being discussed, but also in terms of who controls the information, who might be affected by it and who makes decisions on whose behalf. In this paper we use discourse analytic methods to examine a single case where the clinician and the parent negotiate decisions about childhood testing and the extent to which the parent can influence this process. In discursive terms, we show how the child's future autonomy is juxtaposed against the parent's current rights. In order fully to understand the various characters and events deployed in the accounting practices of the parent and the genetic counsellor, we focus on one rhetorical device, i.e., contrast, as it is manifest at different levels of representation. We conclude that the interplay between a selected set of the contrast pairs contributes towards recursive interactional patterns as far as non-directive counselling is concerned, and consequently has implications for procedural outcomes. PMID:11824933

  1. Communication in cancer genetic counselling: does it reflect counselees' previsit needs and preferences?

    PubMed

    Pieterse, A H; van Dulmen, A M; Ausems, M G E M; Beemer, F A; Bensing, J M

    2005-05-01

    This study sought to describe counsellor-counselee interaction during initial cancer genetic counselling consultations and to examine whether the communication reflects counselees' previsit needs. A total of 130 consecutive counselees, referred mainly for breast or colon cancer, completed a questionnaire before their first appointment at a genetic clinic. Their visit was videotaped. Counselee and counsellor verbal communications were analysed and initiative to discuss 11 genetics-specific conversational topics was assessed. The content of the visit appeared relatively standard. Overall, counselees had a stronger psychosocial focus than counsellors. Counsellors directed the communication more and initiated the discussion of most of the topics assessed. Counselees did not appear to communicate readily in a manner that reflected their previsit needs. Counsellors provided more psychosocial information to counselees in higher need for emotional support, yet did not enquire more about counselees' specific concerns. New counselees may be helped by receiving more information on the counselling procedure prior to their visit, and may be advised to prepare the visit more thoroughly so as to help them verbalise more their queries during the visit. PMID:15841073

  2. [Psychological and familial aspects of the familial breast and ovarian cancer genetic counseling process].

    PubMed

    Flugelman, Anath; Rennert, Gad; Eidelman, Shmuel

    2014-01-01

    Breast cancer is the most prevalent malignancy among women, whilst ovarian cancer is less common but carries a graver prognosis. Carriers of the BRCA mutations have a few-fold higher risk for those diseases. Genetic counseling for the families at risk has been available for almost two decades, since the definition of the mutation. The existence of the deleterious mutation has implications beyond the individual level and touches the lives and future of many other family members. Being part of a BRCA family has medical as well as psychosocial implications. Various barriers and facilitators must be dealt with during the process of sharing the information with kins. Most families cope well with those issues, while some require the guidance of professionals. Special subpopulations, i.e. non-carrier women in BRCA families, young carriers and men who are under minimal personal threat but might transfer the mutation to their off springs, have special needs which should be addressed. The desired outcome of the counseling process is achievement of normal adaptation which balances life in the shadow of uncertainty and threat with the ability to lead a normal life. The process of counseling is multidisciplinary, and along with the advances in scientific and medical aspects, the ethical, legal and social implications (ELSI) have also been developed. The professional personnel escorting those families need to develop and maintain specific skills. PMID:24605403

  3. Genetic Counseling

    MedlinePlus

    ... teaching hospitals. Smaller areas may be served by satellite clinics. If you think you could benefit from ... teaching hospitals. Smaller areas may be served by satellite clinics. If you think you could benefit from ...

  4. Interactive e-counselling for genetics pre-test decisions: where are we now?

    PubMed

    Birch, P H

    2015-03-01

    In-person genetic counselling (GC) is the model typically used to provide patients with information regarding their genetic testing options. Current and emerging demand for genetic testing may overburden the health care system and exceed the available numbers of genetic counsellors. Furthermore, GC is not always available at times and places convenient for patients. There is little evidence that the in-person model alone is always optimal and alternatives to in-person GC have been studied in genetics and other areas of health care. This review summarizes the published evidence between 1994 and March 2014 for interactive e-learning and decisional support e-tools that could be used in pre-test GC. A total of 21 papers from 15 heterogeneous studies of interactive e-learning tools, with or without decision aids, were reviewed. Study populations, designs, and outcomes varied widely but most used an e-tool as an adjunct to conventional GC. Knowledge acquisition and decisional comfort were achieved and the e-tools were generally well-accepted by users. In a time when health care budgets are constrained and availability of GC is limited, research is needed to determine the specific circumstances in which e-tools might replace or supplement some of the functions of genetic counsellors. PMID:24828354

  5. ReCAP: Economic Evaluation Alongside a Clinical Trial of Telephone Versus In-Person Genetic Counseling for BRCA1/2 Mutations in Geographically Underserved Areas

    PubMed Central

    Chang, Yaojen; Near, Aimee M.; Butler, Karin M.; Hoeffken, Amanda; Edwards, Sandra L.; Stroup, Antoinette M.; Kohlmann, Wendy; Gammon, Amanda; Buys, Saundra S.; Schwartz, Marc D.; Peshkin, Beth N.; Kinney, Anita Y.

    2016-01-01

    QUESTION ASKED: Many individuals at risk for BRCA1 or BRCA2 mutations do not have access to trained genetic counselors. This study conducted an economic evaluation alongside a clinical trial of approaches to extending the reach of genetic testing services to geographically underserved populations. SUMMARY ANSWER: Telephone genetic counseling was less expensive than in-person services delivered in the community per individual counseled, individual tested, or mutation detected. For example, it cost an average of $120 (range, $80 to $200) per person counseled in the telephone counseling arm compared with $270 (range, $180 to $400) for in-person counseling. One-way sensitivity analyses showed that the average cost per participant remained consistently lower in the telephone counseling arm than in the in-person counseling arm across the range values for each cost parameter and for each study outcome. METHODS: Microcosting was used to enumerate resources for counseling delivered at 14 primary care clinics (nine geographically remote, five urban) in Utah. Staff time and travel, space, overhead, patient time costs, and test costs were calculated on the basis of actual intervention use and valued using national data for wage rates, space, and overhead. We calculated the costs per arm for pretest counseling, uptake of BRCA1/BRCA2 testing, per mutation detected, and per completion of post-test genetic counseling at 6 months afterrandomization. Costs and effects were not discounted. BIAS, CONFOUNDING FACTOR(S), DRAWBACKS: The findings may not be generalizable to women in other geographically underserved regions in terms of socio-demographic characteristics and mutation risk. Next, we included only costs related to genetic counseling and testing. Counseling and testing may affect other costs, such as those related to increased or decreased short-term use of medical care or long-term health behaviors. REAL-LIFE IMPLICATIONS: Telephone counseling is a cost-efficient method to

  6. Randomized Noninferiority Trial of Telephone Versus In-Person Genetic Counseling for Hereditary Breast and Ovarian Cancer

    PubMed Central

    Schwartz, Marc D.; Valdimarsdottir, Heiddis B.; Peshkin, Beth N.; Mandelblatt, Jeanne; Nusbaum, Rachel; Huang, An-Tsun; Chang, Yaojen; Graves, Kristi; Isaacs, Claudine; Wood, Marie; McKinnon, Wendy; Garber, Judy; McCormick, Shelley; Kinney, Anita Y.; Luta, George; Kelleher, Sarah; Leventhal, Kara-Grace; Vegella, Patti; Tong, Angie; King, Lesley

    2014-01-01

    Purpose Although guidelines recommend in-person counseling before BRCA1/BRCA2 gene testing, genetic counseling is increasingly offered by telephone. As genomic testing becomes more common, evaluating alternative delivery approaches becomes increasingly salient. We tested whether telephone delivery of BRCA1/2 genetic counseling was noninferior to in-person delivery. Patients and Methods Participants (women age 21 to 85 years who did not have newly diagnosed or metastatic cancer and lived within a study site catchment area) were randomly assigned to usual care (UC; n = 334) or telephone counseling (TC; n = 335). UC participants received in-person pre- and post-test counseling; TC participants completed all counseling by telephone. Primary outcomes were knowledge, satisfaction, decision conflict, distress, and quality of life; secondary outcomes were equivalence of BRCA1/2 test uptake and costs of delivering TC versus UC. Results TC was noninferior to UC on all primary outcomes. At 2 weeks after pretest counseling, knowledge (d = 0.03; lower bound of 97.5% CI, −0.61), perceived stress (d = −0.12; upper bound of 97.5% CI, 0.21), and satisfaction (d = −0.16; lower bound of 97.5% CI, −0.70) had group differences and confidence intervals that did not cross their 1-point noninferiority limits. Decision conflict (d = 1.1; upper bound of 97.5% CI, 3.3) and cancer distress (d = −1.6; upper bound of 97.5% CI, 0.27) did not cross their 4-point noninferiority limit. Results were comparable at 3 months. TC was not equivalent to UC on BRCA1/2 test uptake (UC, 90.1%; TC, 84.2%). TC yielded cost savings of $114 per patient. Conclusion Genetic counseling can be effectively and efficiently delivered via telephone to increase access and decrease costs. PMID:24449235

  7. [Rare diseases: specific ethical and legal aspects of genetic counseling and screening].

    PubMed

    Sánchez-Caro, Javier

    2011-01-01

    This article analyses the specific rights of patients with rare diseases from a dual perspective. On the one hand, they concern a new generation of patients' rights that arise once the consolidation of basic rights has occurred, fundamentally after the application of Law 41/2002 (on Regulating Patient Autonomy and Rights and Obligations in the Field of Health Documentation and Information) and its development by the autonomous communities. On the other hand, the fundamental question raises a serious issue related to these patients, which involves the principles of equality, equity, non-discrimination and solidarity. This is aimed at promoting legislative measures to protect patients' equality of access to health and social services, with the ultimate aim of improving their quality of life. The author has given special relevance in his study to the treatment of rare diseases that are genetic in origin, and to the importance of adequate genetic counseling. PMID:22984752

  8. Genetic Counseling for Hereditary Breast and Ovarian Cancer Among Puerto Rican Women Living in the United States

    PubMed Central

    Scherr, Courtney L.; Vasquez, Elsa; Quinn, Gwendolyn P.; Vadaparampil, Susan T.

    2015-01-01

    Background Little is known about barriers to Hereditary Breast and Ovarian Cancer (HBOC) genetic counseling among Puerto Rican women. Objective This study reviews existing literature to identify individual, interpersonal, and systems level factors that may impact the use of HBOC genetic services among Puerto Rican women living in the United States. Methods A systematic search of articles published between the years 1995–2014 was performed in PubMed and ISI Web of Science. Additionally, the bibliography of relevant articles was reviewed for additional potential articles. Results Individual level barriers most frequently identified included: a lack of knowledge or awareness about HBOC or genetic counseling and testing, and facilitators included high levels of interest in genetic counseling/genetic testing. Interpersonal level barriers included worry about knowing a family member’s risk, and conversely, a facilitator was the ability to help family members. Systems level barriers included concerns about the cost, having competing life demands, whereas facilitators included holding private insurance. Conclusion Puerto Rican women are a unique ethnic minority group with specific perceptions, beliefs and levels of education about genetic counseling and testing for HBOC. Addressing individual, interpersonal and systems level factors unique to this group may improve knowledge and awareness. Policy and structural changes may be needed to improve system level barriers. PMID:25626062

  9. Genetic counseling and presymptomatic testing programs for Machado-Joseph Disease: lessons from Brazil and Portugal

    PubMed Central

    Schuler-Faccini, Lavínia; Osorio, Claudio Maria; Romariz, Flavia; Paneque, Milena; Sequeiros, Jorge; Jardim, Laura Bannach

    2014-01-01

    Machado-Joseph disease (MJD) is an autosomal dominant, late-onset neurological disorder and the most common form of spinocerebellar ataxia (SCA) worldwide. Diagnostic genetic testing is available to detect the disease-causing mutation by direct sizing of the CAG repeat tract in the ataxin 3 gene. Presymptomatic testing (PST) can be used to identify persons at risk of developing the disease. Genetic counseling provides patients with information about the disease, genetic risks, PST, and the decision-making process. In this study, we present the protocol used in PST for MJD and the relevant observations from two centers: Brazil (Porto Alegre) and Portugal (Porto). We provide a case report that illustrates the significant ethical and psychological issues related to PST in late-onset neurological disorders. In both centers, counseling and PST are performed by a multidisciplinary team, and genetic testing is conducted at the same institutions. From 1999 to 2012, 343 individuals sought PST in Porto Alegre; 263 (77%) of these individuals were from families with MJD. In Porto, 1,530 individuals sought PST between 1996 and 2013, but only 66 (4%) individuals were from families with MJD. In Brazil, approximately 50% of the people seeking PST eventually took the test and received their results, whereas 77% took the test in Portugal. In this case report, we highlight several issues that might be raised by the consultand and how the team can extract significant information. Literature about PST testing for MJD and other SCAs is scarce, and we hope this report will encourage similar studies and enable the implementation of PST protocols in other populations, mainly in Latin America. PMID:24764760

  10. Discovering misattributed paternity in genetic counselling: different ethical perspectives in two countries.

    PubMed

    Tozzo, Pamela; Caenazzo, Luciana; Parker, Michael J

    2014-03-01

    Misattributed paternity or 'false' paternity is when a man is wrongly thought, by himself and possibly by others, to be the biological father of a child. Nowadays, because of the progression of genetics and genomics the possibility of finding misattributed paternity during familial genetic testing has increased. In contrast to other medical information, which pertains primarily to individuals, information obtained by genetic testing and/or pedigree analysis necessarily has implications for other biologically related members in the family. Disclosing or not a misattributed paternity has a number of different biological and social consequences for the people involved. Such an issue presents important ethical and deontological challenges. The debate centres on whether or not to inform the family and, particularly, whom in the family, about the possibility that misattributed paternity might be discovered incidentally, and whether or not it is the duty of the healthcare professional (HCP) to disclose the results and to whom. In this paper, we consider the different perspectives and reported problems, and analyse their cultural, ethical and legal dimensions. We compare the position of HCPs from an Italian and British point of view, particularly their role in genetic counselling. We discuss whether the Oviedo Convention of the Council of Europe (1997) can be seen as a basis for enriching the debate. PMID:23443210

  11. Molecular prevalence of multiple genetic disorders in Border collies in Japan and recommendations for genetic counselling.

    PubMed

    Mizukami, K; Yabuki, A; Kohyama, M; Kushida, K; Rahman, M M; Uddin, M M; Sawa, M; Yamato, O

    2016-08-01

    Reproductive management is necessary to prevent deleterious genetic disorders in purebred dogs, but comprehensive studies aimed at prevention of multiple underlying genetic disorders in a single breed have not been performed. The aims of this study were to examine mutant allele frequencies associated with multiple genetic disorders, using Border collies as a representative breed, and to make recommendations for prevention of the disorders. Genotyping of known mutations associated with seven recessive genetic disorders was performed using PCR assays. More than half (56%) of the Border collies had no mutant alleles associated with any of the seven disorders, suggesting that these disorders can be removed from the population over several generations. Since frequencies of each mutant allele differed among disorders, reproductive management should be performed after the establishment of prevention schemes that are appropriate for each disorder, the type and specificity of genetic test available, and the effective population size in each breeding colony. PMID:27387721

  12. Effects of consanguineous marriages on morbidity and precocious mortality: genetic counseling.

    PubMed

    Freire-Maia, N

    1984-07-01

    The excess risks of morbidity and precocious mortality for the offspring of incestuous matings and of matings of uncles-nieces and aunts-nephews, first cousins, first cousins once removed, and second cousins have been estimated as 32%, 18%, 9%, 5%, and 2.5%, respectively. These estimates are based on the theory of Morton et al [1956], assuming a damage (genetic and nongenetic) of 20% for the offspring of nonconsanguineous couples and two "deleterious" equivalents per gamete. Other possibilities (a damage of 40%; 2.5 deleterious equivalents per gamete), a partition of the total risk into prenatal and postnatal events, and some aspects of the inbreeding theory are also presented. Comments intended for persons interested in counseling are provided. PMID:6476000

  13. Improving detection and genetic counseling in carriers of spinal muscular atrophy with two copies of the SMN1 gene.

    PubMed

    Alías, L; Barceló, M J; Bernal, S; Martínez-Hernández, R; Also-Rallo, E; Vázquez, C; Santana, A; Millán, J M; Baiget, M; Tizzano, E F

    2014-05-01

    Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutations in the survival motor neuron1 gene (SMN1). Global carrier frequency is around 1 in 50 and carrier detection is crucial to define couples at risk to have SMA offspring. Most SMA carriers have one SMN1 copy and are currently detected using quantitative methods. A few, however, have two SMN1 genes in cis (2/0 carriers), complicating carrier diagnosis in SMA. We analyzed our experience in detecting 2/0 carriers from a cohort of 1562 individuals, including SMA parents, SMA relatives, and unrelated individuals of the general population. Interestingly, in three couples who had an SMA child, both the parents had two SMN1 copies. Families of this type have not been previously reported. Our results emphasize the importance of performing a detailed carrier study in SMA parents with two SMN1 copies. Expanding the analysis to other key family members might confirm potential 2/0 carriers. Finally, when a partner of a known carrier presents two SMN1 copies, the study of both parents will provide a more accurate diagnosis, thus optimizing genetic counseling. PMID:23799925

  14. Cytogenomic Evaluation of Children with Congenital Anomalies: Critical Implications for Diagnostic Testing and Genetic Counseling.

    PubMed

    Szczałuba, Krzysztof; Jakubiuk-Tomaszuk, Anna; Kędzior, Marta; Bernaciak, Joanna; Zdrodowska, Jolanta; Kurzątkowski, Wiesław; Radkowski, Marek; Demkow, Urszula

    2016-01-01

    Identification of submicroscopic chromosomal aberrations, as a cause of structural malformations, is currently performed by MLPA (multiplex ligation-dependent probe amplification) or array CGH (array comparative genomic hybridization) techniques. The aim of this study was the evaluation of diagnostic usefulness of MLPA and array CGH in patients with congenital malformations or abnormalities (at least one major or minor birth defect, including dysmorphism) with or without intellectual disability or developmental delay and the optimization of genetic counseling in the context of the results obtained. The MLPA and array CGH were performed in 91 patients diagnosed with developmental disorders and major or minor congenital anomalies. A total of 49 MLPA tests toward common microdeletion syndromes, 42 MLPA tests for subtelomeric regions of chromosomes, two tests for common aberrations in autism, and five array CGH tests were performed. Eight (9 %) patients were diagnosed with microdeletion MLPA, four (4 %) patients with subtelomeric MLPA, one (1 %) patient with autism MLPA. Further three (3 %) individuals had rearrangements diagnosed by array CGH. Altogether, chromosomal microaberrations were found in 16 patients (17 %). All the MLPA-detected rearrangements were found to be pathogenic, but none detected with array CGH could unequivocally be interpreted as pathogenic. In patients with congenital anomalies, the application of MLPA and array CGH techniques is efficient in detecting syndromic and unique microrearrangements. Consistent pre-MLPA test phenotyping leads to better post-test genetic counseling. Incomplete penetrance and unknown inheritance of detected variants are major issues in clinical interpretation of array CGH data. PMID:26987321

  15. Genetic Counseling for Indigenous Australians: an Exploratory Study from the Perspective of Genetic Health Professionals.

    PubMed

    Kowal, Emma; Gallacher, Lyndon; Macciocca, Ivan; Sahhar, Margaret

    2015-08-01

    Indigenous populations are thought to have particularly low levels of access to genetic health services, and cultural issues may be a contributing factor. This article presents the findings of the first study of genetic health service provision to Indigenous Australians. This qualitative study aimed to identify elements of culturally-competent genetic health service provision in Indigenous Australian contexts. Twelve semi-structured interviews were conducted with genetic counselors and clinical geneticists from around Australia who had delivered services to Indigenous Australians. Participants were asked to describe their experiences and identify any collective cultural needs of Indigenous clients, as well as comment on specific training and resources they had received or used. Interviews were audio-recorded and transcribed with thematic analysis conducted on the data. The findings show that participants were reluctant to generalize the needs of Indigenous peoples. Some participants asserted that Indigenous peoples have needs that differ from the general population, while others felt that there were no collective cultural needs, instead advocating an individualized approach. Being flexible and practical, taking time to build rapport, recognizing different family structures and decision-making processes, as well as socio-economic disadvantage were all identified as important factors in participants' interactions with Indigenous clients. Indigenous support workers and hospital liaison officers were seen as valuable resources for effective service provision. The implications of this study for training and practice are discussed. PMID:25348084

  16. Von Hippel-Lindau Disease: Genetics and Role of Genetic Counseling in a Multiple Neoplasia Syndrome.

    PubMed

    Nielsen, Sarah M; Rhodes, Lindsay; Blanco, Ignacio; Chung, Wendy K; Eng, Charis; Maher, Eamonn R; Richard, Stéphane; Giles, Rachel H

    2016-06-20

    Von Hippel-Lindau disease (VHL) is one of the most common inherited neoplasia syndromes and is characterized by highly vascular tumors of the eyes, brain, and spine, as well as benign and malignant tumors and/or cysts of the kidneys, adrenal medullae and sympathetic paraganglia, endolymphatic sac, epididymis, and broad ligament. Since the discovery of the VHL gene in 1993, more than 900 families with VHL have been identified and examined. Genetic testing for VHL is widely available and will detect a disease-causing mutation in rate 95% to 100% of individuals who have a clinical diagnosis of VHL, making it the standard of care for diagnosis of VHL. Furthermore, genetic testing for VHL is indicated in some individuals with seemingly sporadic VHL-related tumor types, as ≤ 10% of pheochromocytoma or early-onset renal cell carcinoma and ≤ 40% of CNS hemangioblastoma harbor germline VHL mutations without a family history or additional features of VHL disease. The majority of VHL mutations are private, but there are also well-characterized founder mutations. VHL is a complex, multiorgan disease that spans the breadth of oncology subspecialties, and, as such, providers in these subspecialties should be aware of when to consider a diagnosis of VHL, when to refer a patient to a genetics specialist for consideration of gene testing, and, perhaps most importantly, how to communicate this sensitive information in an age-appropriate manner to at-risk families. This review will provide state-of-the-art information regarding the genetics of VHL and will serve as a key reference for nongenetics professionals who encounter patients with VHL. PMID:27114602

  17. Traditional Roles in a Non-Traditional Setting: Genetic Counseling in Precision Oncology

    PubMed Central

    Gustafson, Shanna L.; Raymond, Victoria M.

    2014-01-01

    Next generation sequencing technology is increasingly utilized in oncology with the goal of targeting therapeutics to improve response and reduce side effects. Interpretation of tumor mutations requires sequencing of paired germline DNA, raising questions about incidental germline findings. We describe our experiences as part of a research team implementing a protocol for whole genome sequencing (WGS) of tumors and paired germline DNA known as the Michigan Oncology Sequencing project (MI-ONCOSEQ) that includes options for receiving incidental germline findings. Genetic counselors (GCs) discuss options for return of results with patients during the informed consent process and document family histories. GCs also review germline findings and actively participate in the multi-disciplinary Precision Medicine Tumor Board (PMTB), providing clinical context for interpretation of germline results and making recommendations about disclosure of germline findings. GCs have encountered ethical and counseling challenges with participants, described here. Although GCs have not been traditionally involved in molecular testing of tumors, our experiences with MI-ONCOSEQ demonstrate that GCs have important applicable skills to contribute to multi-disciplinary care teams implementing precision oncology. Broader use of WGS in oncology treatment decision making and American College of Medical Genetics and Genomics (ACMG) recommendations for active interrogation of germline tissue in tumor-normal dyads suggests that GCs will have future opportunities in this area outside of research settings. PMID:24578120

  18. Boundary issues and multiple relationships in genetic counseling supervision: supervisor, non-supervisor, and student perspectives.

    PubMed

    Gu, Lidan; McCarthy Veach, Patricia; Eubanks, Sonja; LeRoy, Bonnie S; Callanan, Nancy

    2011-02-01

    Boundary issues and multiple relationships potentially affect all supervision interactions. Boundary crossings are departures from the strictest professional role and may or may not benefit supervisees. Boundary violations are outside common practice and may place supervisees at significant risk. Multiple relationships occur when supervisors concurrently or consecutively hold two or more roles with supervisees. Studies in other fields indicate supervisors and supervisees may be uncertain about professional conduct regarding these issues. In this study, genetic counselor supervisors (n = 126), non-supervisors (n = 72), and genetic counseling students (n = 129) completed an anonymous survey investigating four major questions: 1) Are various boundary issues and multiple relationships perceived as differentially appropriate? 2) Do supervisor, non-supervisor, and student perceptions differ? 3) What challenging situations have respondents experienced? and 4) What management strategies did they use? There was general agreement among groups in their appropriateness ratings of 56 hypothetical supervisor behaviors, although supervisor ratings tended to reflect stricter boundaries regarding the appropriateness of interactions than student ratings. A majority rated unavoidable boundary crossings and supervisor multiple relationships involving an academic relationship as most appropriate, and romantic/sexual multiple relationships and/or boundary violations as least appropriate. Analysis of respondents' actual challenging situations revealed many involved boundary violations, placed students at risk of harm, and often resulted in student compliance. PMID:20721687

  19. Prevalence of CDKN2A mutations in pancreatic cancer patients: implications for genetic counseling

    PubMed Central

    McWilliams, Robert R; Wieben, Eric D; Rabe, Kari G; Pedersen, Katrina S; Wu, Yanhong; Sicotte, Hugues; Petersen, Gloria M

    2011-01-01

    Germline mutations in CDKN2A have been reported in pancreatic cancer families, but genetic counseling for pancreatic cancer risk has been limited by lack of information on CDKN2A mutation carriers outside of selected pancreatic or melanoma kindreds. Lymphocyte DNA from consecutive, unselected white non-Hispanic patients with pancreatic adenocarcinoma was used to sequence CDKN2A. Frequencies of mutations that alter the coding of p16INK4 or p14ARF were quantified overall and in subgroups. Penetrance and likelihood of carrying mutations by family history were estimated. Among 1537 cases, 9 (0.6%) carried germline mutations in CDKN2A, including three previously unreported mutations. CDKN2A mutation carriers were more likely to have a family history of pancreatic cancer (P=0.003) or melanoma (P=0.03), and a personal history of melanoma (P=0.01). Among cases who reported having a first-degree relative with pancreatic cancer or melanoma, the carrier proportions were 3.3 and 5.3%, respectively. Penetrance for mutation carriers by age 80 was calculated to be 58% for pancreatic cancer (95% confidence interval (CI) 8–86%), and 39% for melanoma (95% CI 0–80). Among cases who ever smoked cigarettes, the risk for pancreatic cancer was higher for carriers compared with non-carriers (HR 25.8, P=2.1 × 10−13), but among nonsmokers, this comparison did not reach statistical significance. Germline mutations in CDKN2A among unselected pancreatic cancer patients are uncommon, although notably penetrant, especially among smokers. Carriers of germline mutations of CDKN2A should be counseled to avoid tobacco use to decrease risk of pancreatic cancer in addition to taking measures to decrease melanoma risk. PMID:21150883

  20. Psychosocial outcome following genetic risk counselling for familial colorectal cancer. A comparison of affected patients and family members.

    PubMed

    Keller, M; Jost, R; Haunstetter, C M; Sattel, H; Schroeter, C; Bertsch, U; Cremer, F; Kienle, P; Tariverdian, M; Kloor, M; Gebert, J; Brechtel, A

    2008-11-01

    Few studies have reported prospective data on psychosocial outcomes after genetic counselling in families with suspected hereditary non-polyposis colorectal cancer (HNPCC). This prospective study examines the impact of multidisciplinary risk counselling on the psychosocial outcome of 139 affected cancer patients and 233 family members without cancer at risk for HNPCC. Participants completed questionnaires specific to HNPCC before and 8 weeks after attending the familial cancer clinic. Affected patients' levels of distress were closely related to their health status and exceeded that of unaffected individuals, as did worry regarding their relatives' risk. A significant reduction in general anxiety (Hospital Anxiety and Depression Scale), distress specific to familial CRC (Impact of Events Scale) and general cancer worry (Distress Hereditary Disorder) was demonstrated after counselling in both affected patients and unaffected individuals. Reduction in distress was more pronounced in affected patients given a high risk of HNPCC compared with those at intermediate risk. Among unaffected individuals, distress declined regardless of what clinical risk they were assigned. Their perceptions of risk and cancer-related threat declined, while confidence in effective surveillance increased. These results suggest the beneficial effects of multidisciplinary counselling even when high-risk information is conveyed. A patient's previous cancer experience is likely to contribute to clinically relevant distress (15% of those patients), indicating the need for appropriate counselling. PMID:18954412

  1. Genetics Health Professionals' Views on Quality of Genetic Counseling Service Provision for Presymptomatic Testing in Late-Onset Neurological Diseases in Portugal: Core Components, Specific Challenges and the Need for Assessment Tools.

    PubMed

    Paneque, M; Mendes, Á; Guimarães, L; Sequeiros, J; Skirton, H

    2015-08-01

    Quality assessment of genetic counseling practice for improving healthcare is a challenge for genetic services worldwide; however, there is scarce literature regarding quality issues in genetic counseling in the context of presymptomatic testing for late-onset neurological diseases (Paneque et al. 2012) The aims of this qualitative study were to: (1) explore the views of professionals' who provide genetic counseling services for presymptomatic testing for late-onset neurological diseases regarding relevant quality indicators for counseling practice; and (2) examine current assessment of such counseling practice for Portuguese genetic services. Quality indicators are a means of measuring either the process or outcomes of patient services, with the aim of evaluating and improving quality of care (Mainz 2003). In this study, we defined quality indicators as measurable outcomes of the counseling process that may reflect good professional practice and desirable end-term effects. We undertook interviews with 18 genetic health professionals (85 % of all genetic counseling professionals involved) from the major genetic services in Portugal. Results indicate that professionals valued some core components of genetic counseling, including providing information and decision-making support, informing the consultand about the genetic counseling protocol, as well as exploring motivations, expectations for test results, consequent anticipated life changes, psychosocial adjustment, and personal and familial experience with the disease. Professionals were not, however, able to clearly elucidate quality indicators for effective practice and some reported they had not reflected on that topic before. Professionals also reported specific challenges in their practice, such as ambiguity of the health/illness status and affirming consultands' autonomy. Results of the study have revealed a lack of knowledge about quality indicators and tools to assess counseling practice. A credible set of

  2. The Italian haemophilia B mutation database: a tool for genetic counselling, carrier detection and prenatal diagnosis

    PubMed Central

    Tagariello, Giuseppe; Belvini, Donata; Salviato, Roberta; Di Gaetano, Rosanna; Zanotto, Daniela; Radossi, Paolo; Risato, Renzo; Sartori, Roberto; Tassinari, Cristina

    2007-01-01

    Introduction The Italian database of factor IX gene (F9) mutations has been built since 2001 and is, so far, the most practical instrument for comprehensive genetic counselling, carrier detection and prenatal diagnosis. Over time the haemophilia B database has been enriched by entries on a larger number of patients and molecular genetic data identifying heterogeneous mutations spanning the entire F9. Methods Conformation sensitive gel electrophoresis is a variant of heteroduplex analysis, which has been applied for screening F9 for mutations, which are further fully characterised by direct sequencing of the amplified mutated regions. This project has involved 29 Italian haemophilia centres and provides data concerning the analysis of a cohort of 306 unrelated patients with haemophilia B (191 with severe, 67 with moderate and 48 with mild disease, including 8 patients with severe haemophilia B with inhibitors). The recorded data include levels of factor IX clotting activity, inhibitor status and clinical severity. Results Detailed analysis of the mutations revealed 164 different mutations, that are considered as unique molecular events (8 large deletions, 11 small deletions, 1 combined deletion/ insertion, 2 insertions, 104 missense, 20 nonsense, 14 mutations in a splicing site, 3 in the promoter and 1 silent). The data recorded in the Italian F9 mutation database provided the basis to study 85 families with haemophilia B, involving 180 females (20 obligate carriers, 106 carriers and 54 non-carriers) and enabled 14 prenatal diagnoses to be made in 12 females. Conclusions Genetic analysis is required to determine female carrier status reliably. Female relatives may request carrier analysis, when a male relative is first diagnosed as having haemophilia or when they are pregnant. At present, the data collected in the Italian national register of mutations in haemophilia B provide the opportunity to perform prompt and precise determination of carrier status and prenatal

  3. Providers' perceptions and practices regarding BRCA1/2 genetic counseling and testing in African American women.

    PubMed

    Graves, Kristi D; Christopher, Juleen; Harrison, Toni Michelle; Peshkin, Beth N; Isaacs, Claudine; Sheppard, Vanessa B

    2011-12-01

    We examined healthcare providers' perceptions of genetic counseling and testing in African American women at moderate to high-risk of carrying a BRCA1/2 mutation. We conducted 20 in-depth interviews with genetic counselors (n = 5), medical oncologists (n = 8), obstetrician/gynecologists (n = 2) and surgeons (n = 5). Interviews were audiotaped, transcribed and independently coded by two individuals using a content analysis approach. Seven themes emerged relevant to providers' perceptions of African American women's use of BRCA1/2 genetic services: access factors, cultural beliefs and preferences, effects of testing, patient motivators for genetic counseling and testing, patient-provider communication, reasons for provider referral, and reasons for patient refusal. Providers identified individual- and system-level barriers to African American women's use of genetic services, including lack of follow-up after referrals to genetic specialists and challenges to obtaining financial coverage for under- and uninsured high-risk women. Results have implications for physician and patient education regarding appropriate referrals to and uptake of genetic services in at-risk African American women. PMID:21822773

  4. Patients' Attitudes Towards Disclosure of Genetic Test Results to Family Members: The Impact of Patients' Sociodemographic Background and Counseling Experience.

    PubMed

    Gilbar, Roy; Shalev, Stavit; Spiegel, Ronen; Pras, Elon; Berkenstadt, Michal; Sagi, Michal; Ben-Yehuda, Adi; Mor, Pnina; Perry, Shlomit; Zaccai, Tzipora Falik; Borochowitz, Zvi; Barnoy, Sivia

    2016-04-01

    Many factors predict the intention to disclose genetic information to relatives. The article examines the impact of patients' socio-demographic factors on their intention to disclose genetic testing results to their relatives. Data were collected in eight genetic clinics in Israel. Patients were requested to fill in a questionnaire after counseling. A convenience sample of 564 participants who visited these clinics was collected for a response rate of 85 %. Of them, 282 participants came for susceptibility testing for hereditary cancers (cancer group), and 282 for genetic screening tests (prenatal group). In the cancer group, being secular and having more years of education correlated positively with the intention to disclose test results to relatives. In the prenatal group, being married and female correlated positively with the intention to disclose. In the cancer group, being religious and with less years of education correlated positively with the view that the clinician should deliver the results to the family. In the prenatal group, being male and unmarried correlated positively with this belief. In both groups, being of young age correlated with the perception that genetic information is private. Varied sociodemographic factors affect the intention to inform family members. Thus, knowing the social background of patients will shed light on people's attitudes to genetic information and will help clinicians provide effective counseling in discussions with patients about the implications of test results for relatives. PMID:26371363

  5. Exploration of transitional life events in individuals with Friedreich ataxia: Implications for genetic counseling

    PubMed Central

    2010-01-01

    Abstract Background Human development is a process of change, adaptation and growth. Throughout this process, transitional events mark important points in time when one's life course is significantly altered. This study captures transitional life events brought about or altered by Friedreich ataxia, a progressive chronic illness leading to disability, and the impact of these events on an affected individual's life course. Methods Forty-two adults with Friedreich ataxia (18-65y) were interviewed regarding their perceptions of transitional life events. Data from the interviews were coded and analyzed thematically using an iterative process. Results Identified transitions were either a direct outcome of Friedreich ataxia, or a developmental event altered by having the condition. Specifically, an awareness of symptoms, fear of falling and changes in mobility status were the most salient themes from the experience of living with Friedreich ataxia. Developmental events primarily influenced by the condition were one's relationships and life's work. Conclusions Friedreich ataxia increased the complexity and magnitude of transitional events for study participants. Transitional events commonly represented significant loss and presented challenges to self-esteem and identity. Findings from this study help alert professionals of potentially challenging times in patients' lives, which are influenced by chronic illness or disability. Implications for developmental counseling approaches are suggested for genetic counseling. Background Human development can be described in terms of key transitional events, or significant times of change. Transitional events initiate shifts in the meaning or direction of life and require the individual to develop skills or utilize coping strategies to adapt to a novel situation [1,2]. A successful transition has been defined as the development of a sense of mastery over the changed event [3]. Transitions can be influenced by a variety of factors

  6. Direct molecular analysis of myotonic dystrophy in the German population: important considerations in genetic counselling.

    PubMed Central

    Meiner, A; Wolf, C; Carey, N; Okitsu, A; Johnson, K; Shelbourne, P; Kunath, B; Sauermann, W; Thiele, H; Kupferling, P

    1995-01-01

    Myotonic dystrophy (DM) is associated with the expansion and instability of a trinucleotide (CTG) repeat at the DM locus on chromosome 19. Direct genomic analysis in the German population was carried out on 18 DM families, six families with equivocal diagnosis, 69 subjects with equivocal clinical diagnosis, and 100 controls using the polymerase chain reaction (PCR) and a refined Southern protocol. In the majority of the cases molecular analysis confirmed the clinical diagnosis. These included seven cases of congenital DM (CDM) with widely differing gene expansions and instabilities. In most DM families the expanded fragment became larger in successive generations, but we also identified four families with contractions and two families that showed stability of the enlarged fragment during transmission. In four clinically defined DM patients we were unable to detect enlarged CTG repeats. Sequencing of each exon of the DM gene in two of these patients failed to show any mutations. Our cases have important implications for genetic counselling of DM families, highlighting both the diagnostic value of direct genomic analysis and its limitations. PMID:7473660

  7. Cancer genetic counseling: communication and counselees' post-visit satisfaction, cognitions, anxiety, and needs fulfillment.

    PubMed

    Pieterse, Arwen H; van Dulmen, Alexandra M; Beemer, Frits A; Bensing, Jozien M; Ausems, Margreet G E M

    2007-02-01

    Little is known about the relation between communication during cancer genetic counseling and outcome. We assessed associations between counselor-counselee communication and counselee satisfaction, cognitions, anxiety, and fulfillment of major needs, corrected for pre-visit levels as appropriate. In total 171 consecutive new counselees, mainly referred for breast or colon cancer, received pre- and post-visit questionnaires assessing needs/fulfillment, knowledge, perceived control (PPC), anxiety (STAI), and satisfaction. Initial visits were videotaped and counselor eye gaze was recorded. Verbal communication was rated by Roter Interaction Analysis System (RIAS). Asking more medical questions was associated with lower satisfaction levels. Receiving more medical information was related to higher correct knowledge scores, higher reported fulfillment of some needs, and unrelated to perceptions of control. Receiving more psychosocial information and longer counselor eye gaze were related to higher anxiety scores. Longer visits were related to higher correct knowledge scores. Providing medical information appears the most powerful communication aspect to increase counselee satisfaction and address needs. More research is needed on how to address adequately (emotional) needs and increase feelings of control. PMID:17295054

  8. Routine assessment of psychosocial problems after cancer genetic counseling: results from a randomized controlled trial.

    PubMed

    Eijzenga, W; Bleiker, E M A; Ausems, M G E M; Sidharta, G N; Van der Kolk, L E; Velthuizen, M E; Hahn, D E E; Aaronson, N K

    2015-05-01

    Approximately 70% of counselees undergoing cancer genetic counseling and testing (CGCT) experience some degree of CGCT-related psychosocial problems. We evaluated the efficacy of an intervention designed to increase detection and management of problems 4 weeks after completion of CGCT. In this randomized, controlled trial, 118 participants completed a CGCT-related problem questionnaire prior to an - audiotaped - telephone session with their counselor 1 month after DNA-test disclosure. For those randomized to the intervention group (n = 63), a summary of the questionnaire results was provided to the counselor prior to the telephone session. Primary outcomes were discussion of the problems, counselors' awareness of problems, and problem management. Secondary outcomes included self-reported distress, cancer worries, CGCT-related problems, and satisfaction. Counselors who received a summary of the questionnaire were more aware of counselees' problems in only one psychosocial domain (practical issues). No significant differences in the number of problems discussed, in problem management, or on any of the secondary outcomes were observed. The prevalence of problems was generally low. The telephone session, combined with feedback on psychosocial problems, has minimal impact. The low prevalence of psychosocial problems 1 month post-CGCT recommends against its use as a routine extension of the CGCT procedure. PMID:25130962

  9. BRCA1 and BRCA2 genetic test in high risk patients and families: counselling and management.

    PubMed

    Marchina, Eleonora; Fontana, Maria Grazia; Speziani, Michela; Salvi, Alessandro; Ricca, Giuseppe; Di Lorenzo, Diego; Gervasi, Maria; Caimi, Luigi; Barlati, Sergio

    2010-12-01

    Hereditary breast cancer accounts for 5-10% of all cases of breast cancer and 10-15% of ovarian cancer and is characterised by dominant inheritance, early onset, the severity of the disease and bilaterality. About 30% of cases with hereditary breast and ovarian cancer have mutations in the BRCA1 and BRCA2 genes. Women with a mutation in the BRCA1 gene have a 80-90% lifetime risk of developing breast cancer, and 40-65% chance of developing ovarian cancer. Most studies carried out throughout the world indicate that the prevalence of BRCA1 and BRCA2 mutation is lower than originally suggested by early studies on large families with several affected members. Studies performed in Italy have reported different prevalence of BRCA1 and BRCA2 mutations, probably due to different selection criteria and to the variability of the techniques used. In this study, we performed a screening of BRCA1 and BRCA2 in families from northern Italy with familial recurrence of breast cancer or ovarian cancer in which the individual risk of patients of being carriers of BRCA1 and BRCA2 mutation was evaluated using BRCAPRO (CAGene) software. We enrolled 27 patients of 101 unrelated families selected when they fulfilled the inclusion criteria of the American Society of Clinical Oncology (ASCO). Specific risk evaluation, genetic test administration if needed, and discussion of the results were offered during multi-disciplinary genetic, surgical and psychological counselling. Seven probands (35%) found BRCA1/2 sequence variation carriers; no BRCA1 and BRCA2 mutations were detected in the remaining 13 probands. Two (15%) patients had BRCA1 mutations and 5 (25%) patients had BRCA2 mutations. In the latter case, BRCA2 delA 9158fs+29stop mutation in exon 22, never previously described and a new sequence variation (T703N) in exon 11 were identified. PMID:21042765

  10. Assessing oral literacy demand in genetic counseling dialogue: preliminary test of a conceptual framework.

    PubMed

    Roter, Debra L; Erby, Lori H; Larson, Susan; Ellington, Lee

    2007-10-01

    Health literacy deficits affect half the American patient population and are linked to poor health, ineffective disease management and high rates of hospitalization. Restricted literacy has also been linked with less satisfying medical visits and communication difficulties, particularly in terms of the interpersonal and informational aspects of care. Despite growing attention to these issues by researchers and policy makers, few studies have attempted to conceptualize and assess those aspects of dialogue that challenge persons with low literacy skills, i.e., the oral literacy demand within medical encounters. The current study uses videotapes and transcripts of 152 prenatal and cancer pretest genetic counseling sessions recorded with simulated clients to develop a conceptual framework to explore oral literacy demand and its consequences for medical interaction and related outcomes. Ninety-six prenatal and 81 cancer genetic counselors-broadly representative of the US National Society of Genetic Counselors-participated in the study. Key elements of the conceptual framework used to define oral literacy demand include: (1) use of unfamiliar technical terms; (2) general language complexity, reflected in the application of Microsoft Word grammar summary statistics to session transcripts; and, (3) structural characteristics of dialogue, including pacing, density, and interactivity. Genetic counselor outcomes include self-ratings of session satisfaction, informativeness, and development of rapport. The simulated clients rated their satisfaction with session communication, the counselor's effective use of nonverbal skills, and the counselor's affective demeanor during the session. Sessions with greater overall technical term use were longer and used more complex language reflected in readability indices and multi-syllabic vocabulary (measures averaging p<.05). Sessions with a high proportionate use of technical terms were characterized by shorter visits, high readability

  11. Efficient and Accurate Construction of Genetic Linkage Maps from the Minimum Spanning Tree of a Graph

    PubMed Central

    Wu, Yonghui; Bhat, Prasanna R.; Close, Timothy J.; Lonardi, Stefano

    2008-01-01

    Genetic linkage maps are cornerstones of a wide spectrum of biotechnology applications, including map-assisted breeding, association genetics, and map-assisted gene cloning. During the past several years, the adoption of high-throughput genotyping technologies has been paralleled by a substantial increase in the density and diversity of genetic markers. New genetic mapping algorithms are needed in order to efficiently process these large datasets and accurately construct high-density genetic maps. In this paper, we introduce a novel algorithm to order markers on a genetic linkage map. Our method is based on a simple yet fundamental mathematical property that we prove under rather general assumptions. The validity of this property allows one to determine efficiently the correct order of markers by computing the minimum spanning tree of an associated graph. Our empirical studies obtained on genotyping data for three mapping populations of barley (Hordeum vulgare), as well as extensive simulations on synthetic data, show that our algorithm consistently outperforms the best available methods in the literature, particularly when the input data are noisy or incomplete. The software implementing our algorithm is available in the public domain as a web tool under the name MSTmap. PMID:18846212

  12. A case-based approach to the development of practice-based competencies for accreditation of and training in graduate programs in genetic counseling.

    PubMed

    Fiddler, M B; Fine, B A; Baker, D L

    1996-09-01

    The American Board of Genetic Counseling (ABGC) sponsored a consensus development conference with participation from directors of graduate programs in genetic counseling, board members, and expert consultants. Using a collective, narrative, and case-based approach, 27 competencies were identified as embedded in the practice of genetic counseling. These competencies were organized into four domains of skills: Communication; Critical Thinking; Interpersonal, Counseling, and Psychosocial Assessment; and Professional Ethics and Values. The adoption of a competency framework for accreditation has a variety of implications for curriculum design and implementation. We report here the process by which a set of practice-based genetic counseling competencies have been derived; and in an accompanying article, the competencies themselves are provided. We also discuss the application of the competencies to graduate program accreditation as well as some of the implications competency-based standards may have for education and the genetic counseling profession. These guidelines may also serve as a basis for the continuing education of practicing genetic counselors and a performance evaluation tool in the workplace. PMID:24234669

  13. What Are Pregnant Women’s Information Needs and Information Seeking Behaviors Prior to Their Prenatal Genetic Counseling?

    PubMed Central

    Hsieh, Yichuan; Brennan, Patricia Flatley

    2005-01-01

    As a result of the Human Genome Project, more genetic diagnostic tests have become available to the public and genetic-related information has also grown exponentially. Pregnant women are now routinely offered tests for chromosomal disorders and screenings for genetic conditions that are relevant to their situations. In order to facilitate the information system (IS) development to support their informed decision-making, it is imperative for the IS designer to recognize their unique information needs and patterns of information seeking behavior (ISB) first. This paper presents results of a pilot study that examined pregnant women’s information needs, ISBs, and information resources used prior to their prenatal genetic counseling. Findings suggest three distinctive areas, content, format, and timing, for IS design considerations. PMID:16779061

  14. Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling

    PubMed Central

    Rana, Huma Q.; Balwani, Manisha; Bier, Louise; Alcalay, Roy N.

    2012-01-01

    Purpose We sought to estimate age-specific risk of Parkinson disease in relatives of patients with Gaucher disease, who are obligate carriers of GBA mutations and who were not ascertained by family history of Parkinson disease. Methods A validated family history of Parkinson disease questionnaire was administered to 119 patients with Gaucher disease who were evaluated at the Mount Sinai School of Medicine from 2009 to 2012; the ages of their parents, siblings, and children, history of Parkinson disease, age at onset of Parkinson disease, and ethnic background were obtained. Kaplan–Meier survival curves were used to estimate age-specific Parkinson disease penetrance among parents of patients with Gaucher disease, who are obligatory GBA mutation carriers. Results Two participants with Gaucher disease were affected by Parkinson disease (5.4% of those who were 60 years or older). Of the 224 informative parents of patients with Gaucher disease, 11 had Parkinson disease (4.9%). Among the parents (obligatory carriers), cumulative risk of Parkinson disease by ages 65 and 85 was estimated to be 2.2% ±2.1% and 10.9% ±7.2%, respectively. Conclusion We provide useful age-specific estimates of Parkinson disease penetrance in patients with Gaucher disease and GBA heterozygous carriers for genetic counseling. Although GBA mutations may increase the risk for PD, the vast majority of patients with Gaucher disease and heterozygotes may not develop the disease. Further studies are needed to identify what modifies the risk of Parkinson disease in GBA mutation carriers. PMID:22935721

  15. Impact of an immunohistochemistry-based universal screening protocol for Lynch syndrome in endometrial cancer on genetic counseling and testing

    PubMed Central

    Frolova, Antonina I.; Babb, Sheri A.; Zantow, Emily; Hagemann, Andrea R.; Powell, Matthew A.; Thaker, Premal H.; Gao, Feng; Mutch, David G.

    2015-01-01

    OBJECTIVE Evaluate effects of a Lynch syndrome universal screening protocol in newly diagnosed endometrial cancers on subsequent genetic counseling (GC) and germline testing (GT) referral and acceptance rates. METHODS We performed a retrospective cohort study of women who underwent a hysterectomy for endometrial cancer at Barnes Jewish Hospital in St. Louis, MO between 1/1/2011 and 12/31/2013 (n=637). An immunohistochemistry-based (IHC) universal screening protocol for Lynch syndrome was initiated on 12/17/2012. The cohorts consisted of women presenting prior to (Pre Em-USP; n=395) and those presenting following (Em-USP; n=242) initiation of the universal screening protocol. GC and GT referrals were based on risk factors and/or IHC results. Comparisons were made using the Fisher’s exact test and the Kruskal-Wallis test. RESULTS A greater proportion of individuals in the Em-USP cohort underwent GT than in Pre Em-USP (9.1% vs 4.8%, p<0.05). Of individuals with an IHC screening result suggestive of LS, those within the Em-USP cohort were significantly more likely to accept GC compared to those in the Pre-Em-USP cohort (95% vs 64%, p=0.02). Specifically within the Em-USP cohort, patients referred to GC due to a concerning IHC screening result, versus those who were referred based on other risk factors, had a higher counseling acceptance rate (95% vs 61%, p=0.03) and underwent genetic testing more readily (76% vs 30%, p<0.001). CONCLUSIONS Implementation of an IHC-based universal screening protocol for LS in endometrial cancer leads to higher acceptance of genetic counseling and higher rates of genetic testing compared to referral based on risk factors alone. PMID:25617771

  16. Clients' Perception of Outcome of Team-Based Prenatal and Reproductive Genetic Counseling in Serbian Service Using the Perceived Personal Control (PPC) Questionnaire.

    PubMed

    Cuturilo, Goran; Vucinic, Olivera Kontic; Novakovic, Ivana; Ignjatovic, Svetlana; Mijovic, Marija; Sulovic, Nenad; Vukolic, Dusan; Komnenic, Milica; Tadic, Jasmina; Cetkovic, Aleksandar; Belic, Aleksandra; Ljubic, Aleksandar

    2016-02-01

    This is the first study in Serbia and the region of South-East Europe dedicated to clients' perception of outcome and efficiency of prenatal and reproductive genetic counseling. The primary aim of this study was to assess overall value and success of genetic counseling in prenatal and reproductive care with regard to perceived personal control of clients, reflecting also in a part patient comprehension, knowledge retention, and empowerment in decision-making. The standardized Perceived Personal Control questionnaire (PPC) was used for the assessment of 239 female participants. First, we performed a complete validation of the psychometric characteristics of the Serbian-language version of the PPC questionnaire. The validation of the questionnaire permits other researchers from Serbian-speaking regions of South-East Europe to use this standard instrument to assess the effectiveness of prenatal genetic counseling in their communities and analyze advantages and disadvantages of their counseling models. We also measured social and demographic characteristics of participants. Further, we analyzed effects of our team-based prenatal and reproductive genetic counseling model through (a) calculation of PPC scores at three different stages (before initial, after initial, and before second counseling session), and (b) by assessing participants' responses by indication for referral (advanced maternal age, abnormal biochemical screening, family history of hereditary disorders, maternal exposure to drugs, exposure to radiation, exposure to infective agents, infertility or recurrent abortions, and miscellaneous). The results indicate that participants' knowledge after initial counseling increased significantly and after that remained stable and sustainable. A satisfactory level of confidence among participants had been achieved, in that many felt an increased sense of control over their situation and emotional response to it. Indirectly, these results indicate the success of a

  17. Characterization of individuals at high risk of developing melanoma in Latin America: bases for genetic counseling in melanoma

    PubMed Central

    Puig, Susana; Potrony, Miriam; Cuellar, Francisco; Puig-Butille, Joan Anton; Carrera, Cristina; Aguilera, Paula; Nagore, Eduardo; Garcia-Casado, Zaida; Requena, Celia; Kumar, Rajiv; Landman, Gilles; Costa Soares de Sá, Bianca; Gargantini Rezze, Gisele; Facure, Luciana; de Avila, Alexandre Leon Ribeiro; Achatz, Maria Isabel; Carraro, Dirce Maria; Duprat Neto, João Pedreira; Grazziotin, Thais C.; Bonamigo, Renan R.; Rey, Maria Carolina W.; Balestrini, Claudia; Morales, Enrique; Molgo, Montserrat; Bakos, Renato Marchiori; Ashton-Prolla, Patricia; Giugliani, Roberto; Larre Borges, Alejandra; Barquet, Virginia; Pérez, Javiera; Martínez, Miguel; Cabo, Horacio; Cohen Sabban, Emilia; Latorre, Clara; Carlos-Ortega, Blanca; Salas-Alanis, Julio C; Gonzalez, Roger; Olazaran, Zulema; Malvehy, Josep; Badenas, Celia

    2016-01-01

    Purpose: CDKN2A is the main high-risk melanoma-susceptibility gene, but it has been poorly assessed in Latin America. We sought to analyze CDKN2A and MC1R in patients from Latin America with familial and sporadic multiple primary melanoma (SMP) and compare the data with those for patients from Spain to establish bases for melanoma genetic counseling in Latin America. Genet Med 18 7, 727–736. Methods: CDKN2A and MC1R were sequenced in 186 Latin American patients from Argentina, Brazil, Chile, Mexico, and Uruguay, and in 904 Spanish patients. Clinical and phenotypic data were obtained. Genet Med 18 7, 727–736. Results: Overall, 24 and 14% of melanoma-prone families in Latin America and Spain, respectively, had mutations in CDKN2A. Latin American families had CDKN2A mutations more frequently (P = 0.014) than Spanish ones. Of patients with SMP, 10% of those from Latin America and 8.5% of those from Spain had mutations in CDKN2A (P = 0.623). The most recurrent CDKN2A mutations were c.-34G>T and p.G101W. Latin American patients had fairer hair (P = 0.016) and skin (P < 0.001) and a higher prevalence of MC1R variants (P = 0.003) compared with Spanish patients. Genet Med 18 7, 727–736. Conclusion: The inclusion criteria for genetic counseling of melanoma in Latin America may be the same criteria used in Spain, as suggested in areas with low to medium incidence, SMP with at least two melanomas, or families with at least two cases among first- or second-degree relatives. Genet Med 18 7, 727–736. PMID:26681309

  18. Accurate Inference of Subtle Population Structure (and Other Genetic Discontinuities) Using Principal Coordinates

    PubMed Central

    Reeves, Patrick A.; Richards, Christopher M.

    2009-01-01

    Background Accurate inference of genetic discontinuities between populations is an essential component of intraspecific biodiversity and evolution studies, as well as associative genetics. The most widely-used methods to infer population structure are model-based, Bayesian MCMC procedures that minimize Hardy-Weinberg and linkage disequilibrium within subpopulations. These methods are useful, but suffer from large computational requirements and a dependence on modeling assumptions that may not be met in real data sets. Here we describe the development of a new approach, PCO-MC, which couples principal coordinate analysis to a clustering procedure for the inference of population structure from multilocus genotype data. Methodology/Principal Findings PCO-MC uses data from all principal coordinate axes simultaneously to calculate a multidimensional “density landscape”, from which the number of subpopulations, and the membership within subpopulations, is determined using a valley-seeking algorithm. Using extensive simulations, we show that this approach outperforms a Bayesian MCMC procedure when many loci (e.g. 100) are sampled, but that the Bayesian procedure is marginally superior with few loci (e.g. 10). When presented with sufficient data, PCO-MC accurately delineated subpopulations with population Fst values as low as 0.03 (G'st>0.2), whereas the limit of resolution of the Bayesian approach was Fst = 0.05 (G'st>0.35). Conclusions/Significance We draw a distinction between population structure inference for describing biodiversity as opposed to Type I error control in associative genetics. We suggest that discrete assignments, like those produced by PCO-MC, are appropriate for circumscribing units of biodiversity whereas expression of population structure as a continuous variable is more useful for case-control correction in structured association studies. PMID:19172174

  19. Genetic counselling in carriers of reciprocal chromosomal translocations involving short arm of chromosome X.

    PubMed

    Panasiuk, Barbara; Usinskiené, Ruta; Kostyk, Ewa; Rybałko, Alicja; Stasiewicz-Jarocka, Beata; Krzykwa, Bogustawa; Pieńkowska-Grela, Barbara; Kucinskas, Vaidutis; Michalova, Kyra; Midro, Alina T

    2004-01-01

    A central concept in genetic counselling is the estimation of the probability of occurrence of unbalanced progeny at birth and other unfavourable outcomes of pregnancy (miscarriages, stillbirths and early death). The estimation of the occurrence probability for individual carriers of four different X-autosome translocations with breakpoints at Xp, namely t(X;5)(p22.2;q32), t(X;6)(p11.2;q21), t(X;7)(p22.2;p11.1), and t(X;22)(p22.1;p11.1), is presented. The breakpoint positions of chromosomal translocations were interpreted using GTG, RBG and FISH-wcp. Most of these translocations were detected in women with normal phenotype, karyotyped because of repeated miscarriages and/or malformed progeny. A girl with very rare pure trisomy Xp22.1-->pter and a functional Xp disomy was ascertained in one family and her clinical picture has been described in details. It has been suggested that not fully skewed X chromosome inactivation of X-autosome translocation with breakpoint positions at Xp22 (critical segment) could influence the phenotype and risk value. Therefore, the X inactivation status was additionally evaluated by analysis of replication banding patterns using RBG technique after incorporation of BrdU. In two carriers of translocations: t(X;5)(p22.2;q32) and t(X;7)(p22.2;p11.1), late replication state of der(X) was observed in 5/100 and 10/180 analysed cells, respectively. In these both cases the breakpoint positions were clustered at the critical segment Xp22.2. In two other cases, one with the breakpoint position within [t(X;22)(p22.1;p11.1)] and one outside the critical region [t(X;6)(p11.2;q21)], fully skewed inactivation was seen. Therefore, we suggest that neither the distribution of the breakpoint positions nor fully skewed inactivation influenced the phenotype of observed t(X;A) carriers. The occurrence probabilities of the unbalanced progeny were calculated according to Stene and Stengel-Rutkowski along with application of updated available empirical data. In

  20. Accurate genetic switch in Escherichia coli: novel mechanism of regulation by co-repressor.

    PubMed

    Tabaka, Marcin; Cybulski, Olgierd; Hołyst, Robert

    2008-04-01

    Understanding a biological module involves recognition of its structure and the dynamics of its principal components. In this report we present an analysis of the dynamics of the repression module within the regulation of the trp operon in Escherichia coli. We combine biochemical data for reaction rate constants for the trp repressor binding to trp operator and in vivo data of a number of tryptophan repressors (TrpRs) that bind to the operator. The model of repression presented in this report greatly differs from previous mathematical models. One, two or three TrpRs can bind to the operator and repress the transcription. Moreover, reaction rates for detachment of TrpRs from the operator strongly depend on tryptophan (Trp) concentration, since Trp can also bind to the repressor-operator complex and stabilize it. From the mathematical modeling and analysis of reaction rates and equilibrium constants emerges a high-quality, accurate and effective module of trp repression. This genetic switch responds accurately to fast consumption of Trp from the interior of a cell. It switches with minimal dispersion when the concentration of Trp drops below a thousand molecules per cell. PMID:18313075

  1. Fast and Accurate Construction of Ultra-Dense Consensus Genetic Maps Using Evolution Strategy Optimization

    PubMed Central

    Mester, David; Ronin, Yefim; Schnable, Patrick; Aluru, Srinivas; Korol, Abraham

    2015-01-01

    Our aim was to develop a fast and accurate algorithm for constructing consensus genetic maps for chip-based SNP genotyping data with a high proportion of shared markers between mapping populations. Chip-based genotyping of SNP markers allows producing high-density genetic maps with a relatively standardized set of marker loci for different mapping populations. The availability of a standard high-throughput mapping platform simplifies consensus analysis by ignoring unique markers at the stage of consensus mapping thereby reducing mathematical complicity of the problem and in turn analyzing bigger size mapping data using global optimization criteria instead of local ones. Our three-phase analytical scheme includes automatic selection of ~100-300 of the most informative (resolvable by recombination) markers per linkage group, building a stable skeletal marker order for each data set and its verification using jackknife re-sampling, and consensus mapping analysis based on global optimization criterion. A novel Evolution Strategy optimization algorithm with a global optimization criterion presented in this paper is able to generate high quality, ultra-dense consensus maps, with many thousands of markers per genome. This algorithm utilizes "potentially good orders" in the initial solution and in the new mutation procedures that generate trial solutions, enabling to obtain a consensus order in reasonable time. The developed algorithm, tested on a wide range of simulated data and real world data (Arabidopsis), outperformed two tested state-of-the-art algorithms by mapping accuracy and computation time. PMID:25867943

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

    SciTech Connect

    Trottier, R.W.; Hodgin, F.C.; Imara, M.; Phoenix, D.; Lybrook, S. . School of Medicine); Crandall, L.A.; Moseley, R.E.; Armotrading, D. . Coll. of Medicine)

    1993-01-01

    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 to 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.

  3. Bayesian statistical treatment of the fluorescence of AFLP bands leads to accurate genetic structure inference.

    PubMed

    Gaggiotti, Oscar E

    2010-11-01

    Ever since the introduction of allozymes in the 1960s, evolutionary biologists and ecologists have continued to search for more powerful molecular markers to estimate important parameters such as effective population size and migration rates and to make inferences about the demographic history of populations, the relationships between individuals and the genetic architecture of phenotypic variation (Bensch & Akesson 2005; Bonin et al. 2007). Choosing a marker requires a thorough consideration of the trade-offs associated with the different techniques and the type of data obtained from them. Some markers can be very informative but require substantial amounts of start-up time (e.g. microsatellites), while others require very little time but are much less polymorphic. Amplified fragment length polymorphism (AFLP) is a firmly established molecular marker technique that falls in this latter category. AFLPs are widely distributed throughout the genome and can be used on organisms for which there is no a priori sequence information (Meudt & Clarke 2007). These properties together with their moderate cost and short start-up time have made them the method of choice for many molecular ecology studies of wild species (Bensch & Akesson 2005). However, they have a major disadvantage, they are dominant. This represents a very important limitation because many statistical genetics methods appropriate for molecular ecology studies require the use of codominant markers. In this issue, Foll et al. (2010) present an innovative hierarchical Bayesian method that overcomes this limitation. The proposed approach represents a comprehensive statistical treatment of the fluorescence of AFLP bands and leads to accurate inferences about the genetic structure of natural populations. Besides allowing a quasi-codominant treatment of AFLPs, this new method also solves the difficult problems posed by subjectivity in the scoring of AFLP bands. PMID:20958811

  4. Genetic counseling in carriers of reciprocal chromosomal translocations involving long arm of chromosome 16.

    PubMed

    Stasiewicz-Jarocka, B; Haus, O; Van Assche, E; Kostyk, E; Constantinou, M; Rybałko, A; Krzykwa, B; Marcinkowska, A; Barisic, I; Kucinskas, V; Katuzewski, B; Schwanitz, G; Midro, A T

    2004-09-01

    -,wcp16+), t(11;16)(q25;q22)GTG, and t(11;16)(q25;q13)GTG] and two with RCT at risk of double-segment imbalance [t(16;19)(q13;q13.3)GTG, isht(16;19)(q13;q13.3) (D16Z3+,16QTEL013-D19S238E+,TEL19pR-; D16Z3-, D19S238E-,TEL19pR+), and t(16;20)(q11.1;q12)GTG, m ish,t(16;20)(wcp16+,wcp20+;wcp16+,wcp20+)]. They have been presented in details to illustrate how the available empiric data could be used in practice for genetic counseling. PMID:15324317

  5. Development of a tiered and binned genetic counseling model for informed consent in the era of multiplex testing for cancer susceptibility

    PubMed Central

    Bradbury, Angela R.; Patrick-Miller, Linda; Long, Jessica; Powers, Jacquelyn; Stopfer, Jill; Forman, Andrea; Rybak, Christina; Mattie, Kristin; Brandt, Amanda; Chambers, Rachelle; Chung, Wendy K.; Churpek, Jane; Daly, Mary B.; Digiovanni, Laura; Farengo-Clark, Dana; Fetzer, Dominique; Ganschow, Pamela; Grana, Generosa; Gulden, Cassandra; Hall, Michael; Kohler, Lynne; Maxwell, Kara; Merrill, Shana; Montgomery, Susan; Mueller, Rebecca; Nielsen, Sarah; Olopade, Olufunmilayo; Rainey, Kimberly; Seelaus, Christina; Nathanson, Katherine L.; Domchek, Susan M.

    2016-01-01

    Purpose Multiplex genetic testing, including both moderate- and high-penetrance genes for cancer susceptibility, is associated with greater uncertainty than traditional testing, presenting challenges to informed consent and genetic counseling. We sought to develop a new model for informed consent and genetic counseling for four ongoing studies. Methods Drawing from professional guidelines, literature, conceptual frameworks, and clinical experience, a multidisciplinary group developed a tiered-binned genetic counseling approach proposed to facilitate informed consent and improve outcomes of cancer susceptibility multiplex testing. Results In this model, tier 1 “indispensable” information is presented to all patients. More specific tier 2 information is provided to support variable informational needs among diverse patient populations. Clinically relevant information is “binned” into groups to minimize information overload, support informed decision making, and facilitate adaptive responses to testing. Seven essential elements of informed consent are provided to address the unique limitations, risks, and uncertainties of multiplex testing. Conclusion A tiered-binned model for informed consent and genetic counseling has the potential to address the challenges of multiplex testing for cancer susceptibility and to support informed decision making and adaptive responses to testing. Future prospective studies including patient-reported outcomes are needed to inform how to best incorporate multiplex testing for cancer susceptibility into clinical practice. PMID:25297947

  6. More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling.

    PubMed

    Sie, Aisha S; van Zelst-Stams, Wendy A G; Spruijt, Liesbeth; Mensenkamp, Arjen R; Ligtenberg, Marjolijn J L; Brunner, Han G; Prins, Judith B; Hoogerbrugge, Nicoline

    2014-06-01

    Currently, most breast cancer (BC) patients receive face-to-face genetic counseling (DNA-intake) prior to BRCA-mutation testing, with generic information regarding hereditary BC and BRCA-mutation testing. This prospective study evaluated a novel format: replacing the intake consultation with telephone, written and digital information sent home, and face-to-face contact following BRCA-mutation testing (DNA-direct). From August 2011 to February 2012, 161 of 233 eligible BC patients referred to our Human Genetics department chose between DNA-direct (intervention) or DNA-intake (control). Exclusion criteria were psychological problems (n = 33), difficulty with Dutch text (n = 5), known BRCA-family (n = 3), non-BRCA-referral (n = 1). 30 declined genetic counseling or study participation. Participants received questionnaires including satisfaction and psychological distress. 59 % chose DNA-direct (p = 0.03), of whom 90 % were satisfied and would choose DNA-direct again (including 6/8 BRCA-mutation carriers); although 27 % hesitated to recommend DNA-direct to other patients. General distress (GHQ-12, p = 0.001) and heredity-specific distress (IES, p = 0.02) scored lower in DNA-direct than DNA-intake, both at baseline and follow-up 2 weeks after BRCA-result disclosure; all scores remained below clinical relevance. DNA-direct participants reported higher website use (53 vs. 32 %, p = 0.01), more referrer information about personal consequences (41 vs. 20 %, p = 0.004) and lower decisional conflict (median 20 [0-88] vs. 25 [0-50], p = 0.01). Processing time in DNA-direct was reduced by 1 month. Mutation detection rate was 8 % in both groups. All BRCA-mutation carriers fulfilled current testing criteria. In conclusion, more BC patients preferred DNA-direct over intake consultation prior to BRCA-mutation testing, the majority being strongly to moderately satisfied with the procedure followed, without increased distress. PMID:24068317

  7. Prenatal molecular testing for Beckwith-Wiedemann and Silver-Russell syndromes: a challenge for molecular analysis and genetic counseling.

    PubMed

    Eggermann, Thomas; Brioude, Frédéric; Russo, Silvia; Lombardi, Maria P; Bliek, Jet; Maher, Eamonn R; Larizza, Lidia; Prawitt, Dirk; Netchine, Irène; Gonzales, Marie; Grønskov, Karen; Tümer, Zeynep; Monk, David; Mannens, Marcel; Chrzanowska, Krystyna; Walasek, Malgorzata K; Begemann, Matthias; Soellner, Lukas; Eggermann, Katja; Tenorio, Jair; Nevado, Julián; Moore, Gudrun E; Mackay, Deborah Jg; Temple, Karen; Gillessen-Kaesbach, Gabriele; Ogata, Tsutomu; Weksberg, Rosanna; Algar, Elizabeth; Lapunzina, Pablo

    2016-06-01

    Beckwith-Wiedemann and Silver-Russell syndromes (BWS/SRS) are two imprinting disorders (IDs) associated with disturbances of the 11p15.5 chromosomal region. In BWS, epimutations and genomic alterations within 11p15.5 are observed in >70% of patients, whereas in SRS they are observed in about 60% of the cases. In addition, 10% of the SRS patients carry a maternal uniparental disomy of chromosome 7 11p15.5. There is an increasing demand for prenatal testing of these disorders owing to family history, indicative prenatal ultrasound findings or aberrations involving chromosomes 7 and 11. The complex molecular findings underlying these disorders are a challenge not only for laboratories offering these tests but also for geneticists counseling affected families. The scope of counseling must consider the range of detectable disturbances and their origin, the lack of precise quantitative knowledge concerning the inheritance and recurrence risks for the epigenetic abnormalities, which are hallmarks of these developmental disorders. In this paper, experts in the field of BWS and SRS, including members of the European network of congenital IDs (EUCID.net; www.imprinting-disorders.eu), put together their experience and work in the field of 11p15.5-associated IDs with a focus on prenatal testing. Altogether, prenatal tests of 160 fetuses (122 referred for BWS, 38 for SRS testing) from 5 centers were analyzed and reviewed. We summarize the current knowledge on BWS and SRS with respect to diagnostic testing, the consequences for prenatal genetic testing and counseling and our cumulative experience in dealing with these disorders. PMID:26508573

  8. Accurate and interpretable nanoSAR models from genetic programming-based decision tree construction approaches.

    PubMed

    Oksel, Ceyda; Winkler, David A; Ma, Cai Y; Wilkins, Terry; Wang, Xue Z

    2016-09-01

    The number of engineered nanomaterials (ENMs) being exploited commercially is growing rapidly, due to the novel properties they exhibit. Clearly, it is important to understand and minimize any risks to health or the environment posed by the presence of ENMs. Data-driven models that decode the relationships between the biological activities of ENMs and their physicochemical characteristics provide an attractive means of maximizing the value of scarce and expensive experimental data. Although such structure-activity relationship (SAR) methods have become very useful tools for modelling nanotoxicity endpoints (nanoSAR), they have limited robustness and predictivity and, most importantly, interpretation of the models they generate is often very difficult. New computational modelling tools or new ways of using existing tools are required to model the relatively sparse and sometimes lower quality data on the biological effects of ENMs. The most commonly used SAR modelling methods work best with large datasets, are not particularly good at feature selection, can be relatively opaque to interpretation, and may not account for nonlinearity in the structure-property relationships. To overcome these limitations, we describe the application of a novel algorithm, a genetic programming-based decision tree construction tool (GPTree) to nanoSAR modelling. We demonstrate the use of GPTree in the construction of accurate and interpretable nanoSAR models by applying it to four diverse literature datasets. We describe the algorithm and compare model results across the four studies. We show that GPTree generates models with accuracies equivalent to or superior to those of prior modelling studies on the same datasets. GPTree is a robust, automatic method for generation of accurate nanoSAR models with important advantages that it works with small datasets, automatically selects descriptors, and provides significantly improved interpretability of models. PMID:26956430

  9. Counseling Psychology in the Era of Genetic Testing: Considerations for Practice, Research, and Training

    ERIC Educational Resources Information Center

    Kaut, Kevin P.

    2006-01-01

    The field of genetics and the process of testing for genetic disorders have advanced considerably over the past half century, ushering in significant improvements in certain areas of medical diagnosis and disease prediction. However, genetic discoveries are accompanied by many social, emotional, and psychological implications, and counseling…

  10. A simplified and accurate detection of the genetically modified wheat MON71800 with one calibrator plasmid.

    PubMed

    Kim, Jae-Hwan; Park, Saet-Byul; Roh, Hyo-Jeong; Park, Sunghoon; Shin, Min-Ki; Moon, Gui Im; Hong, Jin-Hwan; Kim, Hae-Yeong

    2015-06-01

    With the increasing number of genetically modified (GM) events, unauthorized GMO releases into the food market have increased dramatically, and many countries have developed detection tools for them. This study described the qualitative and quantitative detection methods of unauthorized the GM wheat MON71800 with a reference plasmid (pGEM-M71800). The wheat acetyl-CoA carboxylase (acc) gene was used as the endogenous gene. The plasmid pGEM-M71800, which contains both the acc gene and the event-specific target MON71800, was constructed as a positive control for the qualitative and quantitative analyses. The limit of detection in the qualitative PCR assay was approximately 10 copies. In the quantitative PCR assay, the standard deviation and relative standard deviation repeatability values ranged from 0.06 to 0.25 and from 0.23% to 1.12%, respectively. This study supplies a powerful and very simple but accurate detection strategy for unauthorized GM wheat MON71800 that utilizes a single calibrator plasmid. PMID:25624198

  11. Accurate crop classification using hierarchical genetic fuzzy rule-based systems

    NASA Astrophysics Data System (ADS)

    Topaloglou, Charalampos A.; Mylonas, Stelios K.; Stavrakoudis, Dimitris G.; Mastorocostas, Paris A.; Theocharis, John B.

    2014-10-01

    This paper investigates the effectiveness of an advanced classification system for accurate crop classification using very high resolution (VHR) satellite imagery. Specifically, a recently proposed genetic fuzzy rule-based classification system (GFRBCS) is employed, namely, the Hierarchical Rule-based Linguistic Classifier (HiRLiC). HiRLiC's model comprises a small set of simple IF-THEN fuzzy rules, easily interpretable by humans. One of its most important attributes is that its learning algorithm requires minimum user interaction, since the most important learning parameters affecting the classification accuracy are determined by the learning algorithm automatically. HiRLiC is applied in a challenging crop classification task, using a SPOT5 satellite image over an intensively cultivated area in a lake-wetland ecosystem in northern Greece. A rich set of higher-order spectral and textural features is derived from the initial bands of the (pan-sharpened) image, resulting in an input space comprising 119 features. The experimental analysis proves that HiRLiC compares favorably to other interpretable classifiers of the literature, both in terms of structural complexity and classification accuracy. Its testing accuracy was very close to that obtained by complex state-of-the-art classification systems, such as the support vector machines (SVM) and random forest (RF) classifiers. Nevertheless, visual inspection of the derived classification maps shows that HiRLiC is characterized by higher generalization properties, providing more homogeneous classifications that the competitors. Moreover, the runtime requirements for producing the thematic map was orders of magnitude lower than the respective for the competitors.

  12. Post-mortem testing; germline BRCA1/2 variant detection using archival FFPE non-tumor tissue. A new paradigm in genetic counseling.

    PubMed

    Petersen, Annabeth Høgh; Aagaard, Mads Malik; Nielsen, Henriette Roed; Steffensen, Karina Dahl; Waldstrøm, Marianne; Bojesen, Anders

    2016-08-01

    Accurate estimation of cancer risk in HBOC families often requires BRCA1/2 testing, but this may be impossible in deceased family members. Previous, testing archival formalin-fixed, paraffin-embedded (FFPE) tissue for germline BRCA1/2 variants was unsuccessful, except for the Jewish founder mutations. A high-throughput method to systematically test for variants in all coding regions of BRCA1/2 in archival FFPE samples of non-tumor tissue is described, using HaloPlex target enrichment and next-generation sequencing. In a validation study, correct identification of variants or wild-type was possible in 25 out of 30 (83%) FFPE samples (age range 1-14 years), with a known variant status in BRCA1/2. No false positive was found. Unsuccessful identification was due to highly degraded DNA or presence of large intragenic deletions. In clinical use, a total of 201 FFPE samples (aged 0-43 years) were processed. Thirty-six samples were rejected because of highly degraded DNA or failed library preparation. Fifteen samples were investigated to search for a known variant. In the remaining 150 samples (aged 0-38 years), three variants known to affect function and one variant likely to affect function in BRCA1, six variants known to affect function and one variant likely to affect function in BRCA2, as well as four variants of unknown significance (VUS) in BRCA1 and three VUS in BRCA2 were discovered. It is now possible to test for germline BRCA1/2 variants in deceased persons, using archival FFPE samples from non-tumor tissue. Accurate genetic counseling is achievable in families where variant testing would otherwise be impossible. PMID:26733283

  13. Genetic Counseling in a School for the Deaf: A Pilot Program.

    ERIC Educational Resources Information Center

    Warren, Nancy Steinberg; And Others

    1982-01-01

    The feasability of applying the simple techniques of clinical evaluation and/or pedigree analysis to diagnose genetic etiologies of deafness was investigated with 22 families having 26 students in a school for the deaf. (SW)

  14. Legal and ethical issues in genetic testing and counseling for susceptibility to breast, ovarian and colon cancer.

    PubMed Central

    Dickens, B M; Pei, N; Taylor, K M

    1996-01-01

    The prediction of susceptibility to heritable breast, ovarian and colon cancer raises important legal and ethical concerns. Health care professionals have a duty to disclose sufficient information to enable patients to make informed decisions. They must also safeguard the confidentiality of patient data. These duties may come into conflict if a positive finding in one patient implies that family members are also at risk. A legal distinction is made between a breach of confidentiality and the legitimate sharing of information in a patient's interest or to prevent harm to a third party. Physicians also have a fiduciary duty to warn. Other issues concern the legal liability assumed by genetic counsellors, whose disclosures may influence decisions about childbearing, for example, and the risk of socioeconomic discrimination faced by people with a known genetic susceptibility. Traditional ethical orientations and principals may be applied to these and other questions, but feminist ethics will likely have particular importance in the development of an ethical stance toward testing and counseling for heritable breast and ovarian cancer. PMID:8634959

  15. Mothers’ perspectives on their child’s mental illness as compared to other complex disorders in their family: Insights to inform genetic counseling practice

    PubMed Central

    Lautenbach, Denise M.; Hiraki, Susan; Campion, MaryAnn W.; Austin, Jehannine C.

    2013-01-01

    To facilitate the development of a therapeutic alliance in genetic counseling, it is important that the counselor understands how families might perceive the condition that constitutes the reason for the referral. Through training and professional practice, genetic counselors develop a thorough understanding of families’ perceptions of the conditions that are common indications for genetic counseling. But, for referral indications that are less frequent, like serious mental illnesses, genetic counselors may feel less confident in their understanding of the family’s experience, or in their ability to provide psychosocial support when serious mental illness is reported in a family history. This may impede the establishment of a therapeutic alliance. As research shows that most referrals for genetic counseling related to serious mental illness are for female first-degree family members of affected individuals, we sought to explore how this group perceives serious mental illness. To provide a frame of reference with which genetic counselors may be more familiar, we explored how women perceived serious mental illness compared to other common complex disorders in their family. We conducted semi-structured interviews with women who had a child with a serious mental illness (schizophrenia, schizoaffective disorder, bipolar disorder) and a first-degree relative with another common complex disorder (diabetes, heart disease, cancer). Interviews were transcribed and subjected to thematic analysis. Saturation was reached when nine women had participated. Serious mental illness was perceived as being more severe and as having a greater impact on the family than diabetes, heart disease, or cancer. Themes identified included guilt, stigma, and loss. Some of the most important issues that contribute to mothers’ perceptions that serious mental illness is more severe than other common complex disorders could be effectively addressed in genetic counseling. Developing a

  16. Genetic test reporting enhances understanding of risk information and acceptance of prevention recommendations compared to family history-based counseling alone.

    PubMed

    Taber, Jennifer M; Aspinwall, Lisa G; Stump, Tammy K; Kohlmann, Wendy; Champine, Marjan; Leachman, Sancy A

    2015-10-01

    It is unknown whether or why genetic test reporting confers benefits in the understanding and management of cancer risk beyond what patients learn from counseling based on family history. A prospective nonexperimental control group study compared participants from melanoma-prone families who underwent CDKN2A/p16 (p16) genetic testing (27 carriers, 38 noncarriers) to participants from equivalently melanoma-prone families known not to carry a deleterious p16 mutation (31 no-test controls). All participants received equivalent counseling concerning elevated lifetime melanoma risk and corresponding recommendations for prevention and screening. Both immediately and 1 month after counseling, participants receiving a genetic test result reported greater understanding of their risk, decreased derogation of the risk information, and greater personal applicability of prevention recommendations than no-test controls. Decreased derogation of risk information after test reporting predicted further increases in understanding of melanoma risk and applicability of prevention recommendations 1 month later. Results suggest unique benefits of genetic test reporting in promoting understanding and acceptance of information about hereditary cancer risk and its management. PMID:26178773

  17. [Potential problems in obtaining insurance concern patients referred for genetic counseling.

    PubMed

    Diness, Birgitte Rode; Juhl, Line Bune

    2014-03-24

    In Denmark insurance companies may request information regarding current and past disease of the applicants and their family when insurance is requested but they are prohibited from requesting information regarding the applicants' genetically determined risk of future disease. We report a web-based survey in which 46 health-care providers reported how often they met concerns regarding insurance. Concerns were expressed in 1:17 contacts and led to discontinuation of the work-up in 1:200. The providers had knowledge of 86 actual cases with reports of genetic discrimination regarding insurance. PMID:25349929

  18. Information Recall in Genetic Counselling: A Pilot Study of Its Assessment.

    ERIC Educational Resources Information Center

    Michie, Susan; French, David; Allanson, Abi; Bobrow, Martin; Marteau, Theresa M.

    1997-01-01

    Validity of using genetic counselors' reports of information given in consultations as a measure of patient recall was studied. Counselors' reports were compared with tape recordings and patient follow-up calls. Measures include patient expectations, patient anxiety, demographics, patient recall, patient-defined important information, and…

  19. Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis

    PubMed Central

    Westerfield, Lauren; Darilek, Sandra; van den Veyver, Ignatia B.

    2014-01-01

    Prenatal genetic screening and testing provides prospective parents information about the health of their fetus. It is offered to find or address an increased risk for chromosomal abnormalities or other genetic conditions in the fetus or to identify the cause of fetal structural abnormalities detected by prenatal imaging. Genome-wide tests, such as the already widely-used chromosomal microarray analysis and emerging diagnostic whole exome and whole genome sequencing, have improved the ability to detect clinically significant findings, but have also increased the chance of detecting incidental findings and variants of uncertain significance. There is an extensive ongoing discussion about optimal strategies for diagnostic laboratories to report such findings and for providers to communicate them with patients. While consensus opinions and guidelines are beginning to appear, they often exclude the prenatal setting, due to its unique set of challenging considerations. These include more limited knowledge of the impact of genetic variants when prospectively detected in an ongoing pregnancy, the absence or limitations of detecting clinically recognizable phenotypes at the time of testing and the different decision-making processes that will ensue from testing. In this review, we examine these challenges within the medical ethical framework unique to prenatal care. PMID:26237491

  20. Genetic counselling difficulties and ethical implications of incidental findings from array-CGH: a 7-year national survey.

    PubMed

    Lefebvre, M; Sanlaville, D; Marle, N; Thauvin-Robinet, C; Gautier, E; Chehadeh, S E; Mosca-Boidron, A-L; Thevenon, J; Edery, P; Alex-Cordier, M-P; Till, M; Lyonnet, S; Cormier-Daire, V; Amiel, J; Philippe, A; Romana, S; Malan, V; Afenjar, A; Marlin, S; Chantot-Bastaraud, S; Bitoun, P; Heron, B; Piparas, E; Morice-Picard, F; Moutton, S; Chassaing, N; Vigouroux-Castera, A; Lespinasse, J; Manouvrier-Hanu, S; Boute-Benejean, O; Vincent-Delorme, C; Petit, F; Meur, N L; Marti-Dramard, M; Guerrot, A-M; Goldenberg, A; Redon, S; Ferrec, C; Odent, S; Caignec, C L; Mercier, S; Gilbert-Dussardier, B; Toutain, A; Arpin, S; Blesson, S; Mortemousque, I; Schaefer, E; Martin, D; Philip, N; Sigaudy, S; Busa, T; Missirian, C; Giuliano, F; Benailly, H K; Kien, P K V; Leheup, B; Benneteau, C; Lambert, L; Caumes, R; Kuentz, P; François, I; Heron, D; Keren, B; Cretin, E; Callier, P; Julia, S; Faivre, L

    2016-05-01

    Microarray-based comparative genomic hybridization (aCGH) is commonly used in diagnosing patients with intellectual disability (ID) with or without congenital malformation. Because aCGH interrogates with the whole genome, there is a risk of being confronted with incidental findings (IF). In order to anticipate the ethical issues of IF with the generalization of new genome-wide analysis technologies, we questioned French clinicians and cytogeneticists about the situations they have faced regarding IF from aCGH. Sixty-five IF were reported. Forty corresponded to autosomal dominant diseases with incomplete penetrance, 7 to autosomal dominant diseases with complete penetrance, 14 to X-linked diseases, and 4 were heterozygotes for autosomal recessive diseases with a high prevalence of heterozygotes in the population. Therapeutic/preventive measures or genetic counselling could be argued for all cases except four. These four IF were intentionally not returned to the patients. Clinicians reported difficulties in returning the results in 29% of the cases, mainly when the question of IF had not been anticipated. Indeed, at the time of the investigation, only 48% of the clinicians used consents mentioning the risk of IF. With the emergence of new technologies, there is a need to report such national experiences; they show the importance of pre-test information on IF. PMID:26582393

  1. RET and EDNRB mutation screening in patients with Hirschsprung disease: Functional studies and its implications for genetic counseling.

    PubMed

    Widowati, Titis; Melhem, Shamiram; Patria, Suryono Y; de Graaf, Bianca M; Sinke, Richard J; Viel, Martijn; Dijkhuis, Jos; Sadewa, Ahmad H; Purwohardjono, Rochadi; Soenarto, Yati; Hofstra, Robert Mw; Sribudiani, Yunia

    2016-06-01

    Hirschsprung disease (HSCR) is a major cause of chronic constipation in children. HSCR can be caused by germline mutations in RET and EDNRB. Defining causality of the mutations identified is difficult and almost exclusively based on in silico predictions. Therefore, the reported frequency of pathogenic mutations might be overestimated. We combined mutation analysis with functional assays to determine the frequencies of proven pathogenic RET and EDNRB mutations in HSCR. We sequenced RET and EDNRB in 57 HSCR patients. The identified RET-coding variants were introduced into RET constructs and these were transfected into HEK293 cells to determine RET phosphorylation and activation via ERK. An exon trap experiment was performed to check a possible splice-site mutation. We identified eight rare RET-coding variants, one possible splice-site variant, but no rare EDNRB variants. Western blotting showed that three coding variants p.(Pr270Leu), p.(Ala756Val) and p.(Tyr1062Cys) resulted in lower activation of RET. Moreover, only two RET variants (p.(Ala756Val) and p.(Tyr1062Cys)) resulted in reduced ERK activation. Splice-site assays on c.1880-11A>G could not confirm its pathogenicity. Our data suggest that indeed almost half of the identified rare variants are proven pathogenic and that, hence, functional studies are essential for proper genetic counseling. PMID:26395553

  2. From observation to intervention: development of a psychoeducational intervention to increase uptake of BRCA genetic counseling among high-risk breast cancer survivors.

    PubMed

    Vadaparampil, Susan T; Malo, Teri L; Nam, Kelli M; Nelson, Alison; de la Cruz, Cara Z; Quinn, Gwendolyn P

    2014-12-01

    We describe the development of a psychoeducational intervention (PEI) to increase uptake of genetic counseling targeted to high-risk breast cancer survivors. Based on previous research, scientific literature, and a review of cancer education websites, we identified potential PEI content. We then assessed the initial acceptability and preference of two booklets of identical content but different layouts, by presenting the booklets to individuals with a personal or family history of breast cancer (n = 57). The preferred booklet was evaluated by two focus groups of ten breast cancer patients who had not attended genetic counseling. The booklet was refined based on participants' feedback at each stage. Focus group participants generally found the booklet visually appealing, informative, and helpful, but some thought that it was too long. Final changes were made based on learner verification principles of attraction, comprehension, cultural acceptability, and persuasion. This project produced an interventional tool to present key constructs that may facilitate decision making about risk-appropriate genetic counseling uptake among high-risk breast cancer survivors. The process described for creating, testing, and adapting materials from a patient perspective can be used for developing other PEIs. This newly developed, unique PEI can be used in many clinical settings. PMID:24706196

  3. 'Wrongful life' lawsuits for faulty genetic counselling: should the impaired newborn be entitled to sue?

    PubMed Central

    Shapira, A

    1998-01-01

    A "wrongful life" suit is based on the purported tortious liability of a genetic counsellor towards an infant with hereditary defects, with the latter asserting that he or she would not have been born at all if not for the counsellor's negligence. This negligence allegedly lies in the failure on the part of the defendant adequately to advice the parents or to conduct properly the relevant testing and thereby prevent the child's conception or birth (where unimpaired life was not possible). This paper will offer support for the thesis that it would be both feasible and desirable to endorse "wrongful life" compensation actions. The genetic counsellor owed a duty of due professional care to the impaired newborn who now claims that but for the counsellor's negligence, he or she would not have been born at all. The plaintiff's defective life (where healthy life was never an option) constitutes a compensable injury. A sufficient causal link may exist between the plaintiff's injury and the defendant's breach of duty of due professional care and an appropriate measure of damages can be allocated to the disabled newborn. Sanctioning a "wrongful life" cause of action does not necessarily entail abandoning valuable constraints with regard to abortion and euthanasia. Nor does it inevitably lead to an uncontrolled slide down a "slippery slope". PMID:9873975

  4. Application of carrier testing to genetic counseling for X-linked agammaglobulinemia

    SciTech Connect

    Allen, R.C.; Nachtman, R.G.; Belmont, J.W.; Rosenblatt, H.M.

    1994-01-01

    Bruton X-linked agammaglobulinemia (XLA) is a phenotypically recessive genetic disorder of B lymphocyte development. Female carriers of XLA, although asymptomatic, have a characteristic B cell lineage-specific skewing of the pattern of X inactivation. Skewing apparently results from defective growth and maturation of B cell precursors bearing a mutant active X chromosome. In this study, carrier status was tested in 58 women from 22 families referred with a history of agammaglobulinemia. Primary carrier analysis to examine patterns of X inactivation in CD19[sup +] peripheral blood cells (B lymphocytes) was conducted using quantitative PCR at the androgen-receptor locus. Obligate carriers of XLA demonstrated >95% skewing of X inactivation in peripheral blood CD19[sup +] cells but not in CD19[sup [minus

  5. "Counseling" in Ophthalmology.

    ERIC Educational Resources Information Center

    Francois, J.

    1976-01-01

    The need to counsel patients with genetic ophthalmological problems is stressed in the article. Assessment of autosomal dominance or autosomal recessitivity in an individual is explained and sex-linked heredity is traced. Practical examples of genetic abnormalities, such as pigmentary retinopathy and chorodineremia, are discussed. (PHR)

  6. Genetics of familial hypercholesterolemia.

    PubMed

    Brautbar, Ariel; Leary, Emili; Rasmussen, Kristen; Wilson, Don P; Steiner, Robert D; Virani, Salim

    2015-04-01

    Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein (LDL) cholesterol and premature cardiovascular disease, with a prevalence of approximately 1 in 200-500 for heterozygotes in North America and Europe. Monogenic FH is largely attributed to mutations in the LDLR, APOB, and PCSK9 genes. Differential diagnosis is critical to distinguish FH from conditions with phenotypically similar presentations to ensure appropriate therapeutic management and genetic counseling. Accurate diagnosis requires careful phenotyping based on clinical and biochemical presentation, validated by genetic testing. Recent investigations to discover additional genetic loci associated with extreme hypercholesterolemia using known FH families and population studies have met with limited success. Here, we provide a brief overview of the genetic determinants, differential diagnosis, genetic testing, and counseling of FH genetics. PMID:25712136

  7. Accurate genetic diagnosis of Finnish pulmonary arterial hypertension patients using oligonucleotide-selective sequencing

    PubMed Central

    Vattulainen, Sanna; Aho, Joonas; Salmenperä, Pertteli; Bruce, Siina; Tallila, Jonna; Gentile, Massimiliano; Sankelo, Marja; Laitinen, Tarja; Koskenvuo, Juha W; Alastalo, Tero-Pekka; Myllykangas, Samuel

    2015-01-01

    The genetic basis of pulmonary arterial hypertension (PAH) among Finnish PAH patients is poorly understood. We adopted a novel-targeted next-generation sequencing (NGS) approach called Oligonucleotide-Selective Sequencing (OS-Seq) and developed a custom data analysis and interpretation pipeline to identify pathogenic base substitutions, insertions, and deletions in seven genes associated with PAH (BMPR2, BMPR1B, ACVRL1, ENG, SMAD9, CAV1, and KCNK3) from Finnish PAH patients. This study represents the first clinical study with OS-Seq technology on patients suffering from a rare genetic disorder. We analyzed DNA samples from 21 Finnish PAH patients, whose BMPR2 and ACVRL1 mutation status had been previously studied using Sanger sequencing. Our sequencing panel covered 100% of the targeted base pairs with >15× sequencing depth. Pathogenic base substitutions were identified in the BMPR2 gene in 29% of the Finnish PAH cases. Two of the pathogenic variant-positive patients had been previously tested negative using Sanger sequencing. No clinically significant variants were identified in the six other PAH genes. Our study validates the use of targeted OS-Seq for genetic diagnostics of PAH and revealed pathogenic variants that had been previously missed using Sanger sequencing. PMID:26247051

  8. Fast and accurate nonenzymatic copying of an RNA-like synthetic genetic polymer.

    PubMed

    Zhang, Shenglong; Blain, J Craig; Zielinska, Daria; Gryaznov, Sergei M; Szostak, Jack W

    2013-10-29

    Recent advances suggest that it may be possible to construct simple artificial cells from two subsystems: a self-replicating cell membrane and a self-replicating genetic polymer. Although multiple pathways for the growth and division of model protocell membranes have been characterized, no self-replicating genetic material is yet available. Nonenzymatic template-directed synthesis of RNA with activated ribonucleotide monomers has led to the copying of short RNA templates; however, these reactions are generally slow (taking days to weeks) and highly error prone. N3'-P5'-linked phosphoramidate DNA (3'-NP-DNA) is similar to RNA in its overall duplex structure, and is attractive as an alternative to RNA because the high reactivity of its corresponding monomers allows rapid and efficient copying of all four nucleobases on homopolymeric RNA and DNA templates. Here we show that both homopolymeric and mixed-sequence 3'-NP-DNA templates can be copied into complementary 3'-NP-DNA sequences. G:T and A:C wobble pairing leads to a high error rate, but the modified nucleoside 2-thiothymidine suppresses wobble pairing. We show that the 2-thiothymidine modification increases both polymerization rate and fidelity in the copying of a 3'-NP-DNA template into a complementary strand of 3'-NP-DNA. Our results suggest that 3'-NP-DNA has the potential to serve as the genetic material of artificial biological systems. PMID:24101473

  9. The Cognitive and Psychological Impact of BRCA Genetic Counseling in Before and After Definitive Surgery Breast Cancer Patients

    PubMed Central

    Christie, Juliette; Quinn, Gwendolyn P.; Malo, Teri; Lee, Ji-Hyun; Zhao, Xiuhua; McIntyre, Jessica; Brzosowicz, Jennifer; Jacobsen, Paul B.; Vadaparampil, Susan T.

    2013-01-01

    Purpose This study examined changes in cancer-related knowledge, distress, and decisional conflict from pretest- to post-genetic counseling (GC) in before definitive surgery (BDS) and after definitive surgery (ADS) breast cancer (BC) patients. Methods Sociodemographic and clinical characteristics were collected at baseline; primary outcome data were collected before (T1) and after (T2) pretest GC. Within group changes for cancer-related knowledge, distress, and decisional conflict over GT were compared using Wilcoxon signed-rank tests. Results Of 103 BC patients, 87 were ADS and 16 were BDS patients. Analyses revealed that both groups reported significant increases in knowledge between T1 and T2 (median change = 4.2, p = .004, and 2.7, p < .001, for BDS and ADS patients, respectively). Overall cancer-related distress showed a downward trend between T1 and T2 for both groups and was significant for BDS patients (p = .041). Reports of BDS patients trended toward overall and subscale-specific increases in decisional conflict, with the exception of the uncertainty which trended downward, but did not reach significance. Overall decisional conflict decreased in ADS patients, approaching marginal significance (p = .056), with significant improvements in informed decision making (median change = -12.6, p < .001; i.e., pretest GC yielded improved knowledge of benefits, risks, and side effects of available options). Conclusions These pilot data suggest that pretest GC increases cancer-related knowledge for both BDS and ADS patients, decreases distress in BDS, and improves informed decision making in ADS patients. Future studies with larger sample sizes are needed to replicate these results. PMID:22766984

  10. Group Counseling

    ERIC Educational Resources Information Center

    Mahler, Clarence A.

    1971-01-01

    This article reviews the major concerns of group counseling and differentiates among group guidance, group counseling, and group therapy. It also evaluates the research status of group counseling and presents implications for the future of this approach. Comment by Carl E. Thoresen follows. (Author)

  11. A hybrid genetic algorithm-extreme learning machine approach for accurate significant wave height reconstruction

    NASA Astrophysics Data System (ADS)

    Alexandre, E.; Cuadra, L.; Nieto-Borge, J. C.; Candil-García, G.; del Pino, M.; Salcedo-Sanz, S.

    2015-08-01

    Wave parameters computed from time series measured by buoys (significant wave height Hs, mean wave period, etc.) play a key role in coastal engineering and in the design and operation of wave energy converters. Storms or navigation accidents can make measuring buoys break down, leading to missing data gaps. In this paper we tackle the problem of locally reconstructing Hs at out-of-operation buoys by using wave parameters from nearby buoys, based on the spatial correlation among values at neighboring buoy locations. The novelty of our approach for its potential application to problems in coastal engineering is twofold. On one hand, we propose a genetic algorithm hybridized with an extreme learning machine that selects, among the available wave parameters from the nearby buoys, a subset FnSP with nSP parameters that minimizes the Hs reconstruction error. On the other hand, we evaluate to what extent the selected parameters in subset FnSP are good enough in assisting other machine learning (ML) regressors (extreme learning machines, support vector machines and gaussian process regression) to reconstruct Hs. The results show that all the ML method explored achieve a good Hs reconstruction in the two different locations studied (Caribbean Sea and West Atlantic).

  12. Single strand conformation polymorphism analysis of androgen receptor gene mutations in patients with androgen insensitivity syndromes: Application for diagnosis, genetic counseling, and therapy

    SciTech Connect

    Hiort, O. Tufts-New England Medical Center, Boston, MA ); Huang, Q. ); Sinnecker, G.H.G.; Kruse, K. ); Sadeghi-Nejad, A.; Wolfe, H.J. ); Yandell, D.W. ) Harvard School of Public Health, Boston, MA )

    1993-07-01

    Recent studies indicate that mutations in the androgen receptor gene are associated with androgen insensitivity syndromes, a heterogeneous group of related disorders involving defective sexual differentiation in karyotypic males. In this report, the authors address the possibility of rapid mutational analysis of the androgen receptor gene for initial diagnosis, genetic counseling, and molecular subclassification of affected patients and their families. DNA from peripheral blood leukocytes of six patients from five families with various degrees of androgen insensitivity was studied. Exons 2 to 8 of the androgen receptor gene were analyzed using a combination of single strand conformation polymorphism analysis and direct DNA sequencing. Female family members were also studied to identify heterozygote carriers. Point mutations in the AR gene were identified in all six patients, and all mutations caused amino acid substitutions. One patient with incomplete androgen insensitivity was a mosaic for the mutation. Four of the five mothers, as well as a young sister of one patient, were carriers of the mutation present in the affected child. The data show that new mutations may occur in the androgen receptor gene leading to sporadic androgen insensitivity syndrome. Molecular genetic characterization of the variant allele can serve as a primary tool for diagnosis and subsequent therapy, and can provide a basis for distinguishing heterozygous carriers in familial androgen resistance. The identification of carriers is of substantial clinical importance for genetic counseling. 29 refs., 2 figs., 1 tab.

  13. What is Genetic Counseling?

    MedlinePlus

    ... Diagnostic laboratories Educational and medical websites Pharmaceutical industry Public health Healthcare consulting Marketing/product development Policy development/advocacy The possibilities are endless and continue ...

  14. Co-Occurence of Reciprocal Translocation and COL2A1 Mutation in a Fetus with Severe Skeletal Dysplasia: Implications for Genetic Counseling.

    PubMed

    Heinrich, Tilman; Nanda, Indrajit; Rehn, Monika; Zollner, Ursula; Ernestus, Karen; Wirth, Clemens; Schlüter, Gregor; Schmid, Michael; Kunstmann, Erdmute

    2015-01-01

    Achondrogenesis type II is an autosomal-dominant disease leading to severe micromelic dwarfism. Here, we report on the postmortem identification of a de novo heterozygous mutation in the COL2A1 gene (c.1529G>A, p.Gly510Asp) in a fetus who presented with generalized hydrops fetalis and severe micromelia during prenatal sonographic examinations. Initially, a reciprocal translocation t(4;17)(q31;p13) was detected in this fetus by chorionic villus sampling. Subsequent chromosomal analysis of maternal and paternal blood showed that the patient's mother was carrier of the same reciprocal translocation. SNP array analysis of the fetus did not provide evidence for chromosomal imbalances or CNVs that could be associated with the fetal phenotype. The coexistence of a cytogenetic (reciprocal translocation) and a molecular genetic (COL2A1 mutation) abnormality in the fetus carries important implications for genetic counseling. PMID:25823796

  15. Limited family structure and triple-negative breast cancer (TNBC) subtype as predictors of BRCA mutations in a genetic counseling cohort of early-onset sporadic breast cancers.

    PubMed

    Zugazagoitia, Jon; Pérez-Segura, Pedro; Manzano, Arancha; Blanco, Ignacio; Vega, Ana; Custodio, Ana; Teulé, Alex; Fachal, Laura; Martínez, Beatriz; González-Sarmiento, Rogelio; Cruz-Hernández, Juan Jesús; Chirivella, Isabel; Garcés, Vicente; Garre, Pilar; Romero, Atocha; Caldés, Trinidad; Díaz-Rubio, Eduardo; de la Hoya, Miguel

    2014-11-01

    Early-onset diagnosis is an eligibility criterion for BRCA1 and BRCA2 (BRCA) testing in sporadic breast cancer patients. Limited family structure has been proposed as a predictor of BRCA mutation status in this group of patients. An overwhelming amount of data supports a strong association between BRCA1 mutations and triple-negative breast cancer (TNBC). Here, we analyze the feasibility of using limited family structure and TNBC as predictors of BRCA mutation status in early-onset breast cancer patients attending genetic counseling units. We have conducted the study in a cohort of sporadic early-onset (≤35 years) breast cancer patients (N = 341) previously selected for BRCA genetic testing in Academic Hereditary Cancer Clinics from Spain. A retrospective review of medical records available at the time of risk assessment allowed us classifying patients according to family structure and TNBC. In addition, BRCAPRO score was calculated for all patients. Association between categorical variables was investigated using the Fisher's exact test. Binary Logistic Regression Analysis was used for multivariate analysis. Limited family structure (OR 3.61, p = 0.013) and TNBC (OR 3.14, p = 0.013) were independent predictors of BRCA mutation status. Mutation prevalence in the subgroup of patients with at least one positive predictor was 14%, whereas it dropped to 3% in non-TNBCs with adequate family history (OR 5.31, 95% CI 1.38-23.89, p = 0.006). BRCAPRO correctly discerned between limited and adequate family structures. Limited family structure and TNBC are feasible predictors of BRCA mutation status in sporadic early-onset (≤35 years) breast cancer patients attending genetic counseling units. The low prevalence of mutations observed in non-TNBCs with adequate family structure suggests that this subgroup of patients might be excluded from genetic testing. PMID:25342642

  16. High Satisfaction and Low Distress in Breast Cancer Patients One Year after BRCA-Mutation Testing without Prior Face-to-Face Genetic Counseling.

    PubMed

    Sie, Aisha S; Spruijt, Liesbeth; van Zelst-Stams, Wendy A G; Mensenkamp, Arjen R; Ligtenberg, Marjolijn J L; Brunner, Han G; Prins, Judith B; Hoogerbrugge, Nicoline

    2016-06-01

    According to standard practice following referral to clinical genetics, most high risk breast cancer (BC) patients in many countries receive face-to-face genetic counseling prior to BRCA-mutation testing (DNA-intake). We evaluated a novel format by prospective study: replacing the intake consultation with telephone, written and digital information sent home. Face-to-face counseling then followed BRCA-mutation testing (DNA-direct). One year after BRCA-result disclosure, 108 participants returned long-term follow-up questionnaires, of whom 59 (55 %) had previously chosen DNA-direct (intervention) versus DNA-intake (standard practice i.e., control: 45 %). Questionnaires assessed satisfaction and psychological distress. All participants were satisfied and 85 % of DNA-direct participants would choose this procedure again; 10 % would prefer DNA-intake and 5 % were undecided. In repeated measurements ANOVA, general distress (GHQ-12, p = 0.01) and BC-specific distress (IES-bc, p = 0.03) were lower in DNA-direct than DNA-intake at all time measurements. Heredity-specific distress (IES-her) did not differ significantly between groups. Multivariate regression analyses showed that choice of procedure did not significantly contribute to either general or heredity-specific distress. BC-specific distress (after BC diagnosis) did contribute to both general and heredity-specific distress. This suggests that higher distress scores reflected BC experience, rather than the type of genetic diagnostic procedure. In conclusion, the large majority of BC patients that used DNA-direct reported high satisfaction without increased distress both in the short term, and 1 year after conclusion of genetic testing. PMID:26531312

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

    SciTech Connect

    Trottier, R.W.; Hodgin, F.C.; Imara, M.; Phoenix, D.; Lybrook, S.; Crandall, L.A.; Moseley, R.E.; Armotrading, D.

    1993-03-01

    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 to 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.

  18. Coinheritance of a Rare Nucleotide Substitution on the β-Globin Gene and Other Known Mutations in the Globin Clusters: Management in Genetic Counseling.

    PubMed

    Vinciguerra, Margherita; Passarello, Cristina; Leto, Filippo; Crivello, Anna; Fustaneo, Maria; Cassarà, Filippo; Cannata, Monica; Maggio, Aurelio; Giambona, Antonino

    2016-08-01

    A large number of methods for DNA analysis are available to identify defects in globin genes associated with hemoglobin (Hb) disorders. In this study, we report a rare nucleotide (nt) substitution on the β-globin gene, nt 781 in the second intron [IVS-II-781 (C > G); HBB: c.316-70C > G], identified in four patients. This nt substitution was previously described only as a personal communication to the HbVar database and indicated as a β(0) or β(+) mutation. The purpose of this study was to evaluate the clinical implication of this nt change, particularly when coinherited with severe β-thalassemia (β-thal), in order to be able to conduct appropriate genetic counseling. Genetic studies were performed on two subjects, one carried Hb S [β6(A3)Glu→Val; HBB: c.20A > T], and the other carried IVS-I-110 (G > A) (HBB: c.93-21G > A). All these subjects showed this new β nt substitution in association with Hb A2' (or Hb B2) [δ16(A13)Gly→Arg; HBD: c.49G > C]. Another 16 samples, carrying the same δ variant as the probands, were processed by β-globin gene sequencing in order to better understand the correlation between this Hb variant and the rare nt substitution reported in this study. The present investigation emphasizes the importance of sharing the observed nt changes in the globin gene cluster, especially in the case of new or rare undefined mutations, in order to facilitate the determination of their phenotypic expression, the possible interactions with known molecular defects and to formulate appropriate genetic counseling for at-risk couples. PMID:27258795

  19. Clinical interpretation and recommendations for patients with a variant of uncertain significance in BRCA1 or BRCA2: a survey of genetic counseling practice.

    PubMed

    Petrucelli, Nancie; Lazebnik, Noam; Huelsman, Karen M; Lazebnik, Roee S

    2002-01-01

    The intent of this study was to document current practices in breast cancer genetic counseling and identify areas of variability for patients with a variant of uncertain significance (VUS) in the BRCA1 or BRCA2 gene. Registered members of the National Society of Genetic Counselors (NSGC) Cancer Special Interest Group (SIG) were sent an invitation via electronic mail to participate in an online questionnaire. The questionnaire was divided into three sections: clinical experience, clinical meaning, and risk perceptions and clinical recommendations for clinical situations involving a VUS. Fifty-seven of the eligible members responded. During the pre-test counseling session for a BRCA risk assessment patient, the vast majority of counselors (80.7%) mention VUS as a possible test result. Nearly half, 49.1%, report having given such a result to their patients at least one to four times. However, only 63.2% felt as though their patients understood the meaning of a VUS result. When asked to conclude the implication of a VUS and make medical management recommendations, the responses were varied. Nevertheless, a good proportion of counselors expressed the importance of testing other family members to help clarify the proband's risk and aid in medical management issues. Although the recent recommendations by the American College of Medical Genetics suggest standards for the interpretation of sequence variations, they do not provide guidelines for making clinical recommendations based on these variations. The results of this study reveal significant diversity in the personal interpretation of a VUS result, leading to various clinical recommendations, and suggest a need for clinical management recommendations as well. PMID:12215249

  20. Accurate determination of genetic identity for a single cacao bean, using molecular markers with a nanofluidic system, ensures cocoa authentication.

    PubMed

    Fang, Wanping; Meinhardt, Lyndel W; Mischke, Sue; Bellato, Cláudia M; Motilal, Lambert; Zhang, Dapeng

    2014-01-15

    Cacao (Theobroma cacao L.), the source of cocoa, is an economically important tropical crop. One problem with the premium cacao market is contamination with off-types adulterating raw premium material. Accurate determination of the genetic identity of single cacao beans is essential for ensuring cocoa authentication. Using nanofluidic single nucleotide polymorphism (SNP) genotyping with 48 SNP markers, we generated SNP fingerprints for small quantities of DNA extracted from the seed coat of single cacao beans. On the basis of the SNP profiles, we identified an assumed adulterant variety, which was unambiguously distinguished from the authentic beans by multilocus matching. Assignment tests based on both Bayesian clustering analysis and allele frequency clearly separated all 30 authentic samples from the non-authentic samples. Distance-based principle coordinate analysis further supported these results. The nanofluidic SNP protocol, together with forensic statistical tools, is sufficiently robust to establish authentication and to verify gourmet cacao varieties. This method shows significant potential for practical application. PMID:24354624

  1. Counseling adolescents.

    PubMed

    Yamuna, Srinivasan

    2013-11-01

    Skills for counseling adolescents are acquired over a period of time by all practitioners of adolescent health. Though the principles of counseling remain the same the process of counseling an adolescent differs considerably from that of a child or an adult. Adolescents are in their transition between childhood and adulthood with physical, emotional and social challenges to face. The maturity level of each adolescent differs and that decides the pace and contents of each session. The counselor sets the context in a non judgmental manner so that the adolescent feels the ease and eagerness to self disclose. Privacy and confidentiality are two key issues that have to be taken care of during counseling. PMID:23888379

  2. Quality of Cancer Family History and Referral for Genetic Counseling and Testing Among Oncology Practices: A Pilot Test of Quality Measures As Part of the American Society of Clinical Oncology Quality Oncology Practice Initiative

    PubMed Central

    Wood, Marie E.; Kadlubek, Pamela; Pham, Trang H.; Wollins, Dana S.; Lu, Karen H.; Weitzel, Jeffrey N.; Neuss, Michael N.; Hughes, Kevin S.

    2014-01-01

    Purpose Family history of cancer (CFH) is important for identifying individuals to receive genetic counseling/testing (GC/GT). Prior studies have demonstrated low rates of family history documentation and referral for GC/GT. Methods CFH quality and GC/GT practices for patients with breast (BC) or colon cancer (CRC) were assessed in 271 practices participating in the American Society of Clinical Oncology Quality Oncology Practice Initiative in fall 2011. Results A total of 212 practices completed measures regarding CFH and GC/GT practices for 10,466 patients; 77.4% of all medical records reviewed documented presence or absence of CFH in first-degree relatives, and 61.5% of medical records documented presence or absence of CFH in second-degree relatives, with significantly higher documentation for patients with BC compared with CRC. Age at diagnosis was documented for all relatives with cancer in 30.7% of medical records (BC, 45.2%; CRC, 35.4%; P ≤ .001). Referall for GC/GT occurred in 22.1% of all patients with BC or CRC. Of patients with increased risk for hereditary cancer, 52.2% of patients with BC and 26.4% of those with CRC were referred for GC/GT. When genetic testing was performed, consent was documented 77.7% of the time, and discussion of results was documented 78.8% of the time. Conclusion We identified low rates of complete CFH documentation and low rates of referral for those with BC or CRC meeting guidelines for referral among US oncologists. Documentation and referral were greater for patients with BC compared with CRC. Education and support regarding the importance of accurate CFH and the benefits of proactive high-risk patient management are clearly needed. PMID:24493722

  3. Ownership of Uncertainty: Health Care Professionals counselling and treating women from hereditary breast and ovarian cancer families who receive an inconclusive BRCA1/2 genetic test result

    PubMed Central

    Kenen, Regina; Ardern-Jones, Audrey; Lynch, Elly; Eeles, Rosalind

    2011-01-01

    AIM To understand more fully how health care professionals deal with the uncertainty intrinsic in counselling and treating women from hereditary breast/ovarian cancer(HBOC) families who receive inconclusive BRCA1/2 genetic test results (genetic tests which do not find a mutation to account for the family history). METHODS We conducted a small, qualitative, exploratory study using open -ended semi structured interviews of 12 geneticists, genetic counsellor/nurses, oncologists, gynaecologists and breast surgeons at a major UK cancer centre. We asked questions about; how these professionals dealt with the large amount of uncertainty raised by an inconclusive result, communicated the uncertainty involved and their feelings about presenting medical management options based on information fraught with uncertainty, the role of the media, differences in perspectives by specialty and personal feelings about the uncertainty. RESULTS Based on themes generated by the data, we proposed the concept “Ownership of Uncertainty” (sole, shared, diffused, normalised, transferred) to explain how the professionals in this study dealt with this high degree of uncertainty. A shared ownership of uncertainty was the dominant model during the presentation of information given by the professionals as part of their consultation with their patients. However, the final decision for management was left primarily to the woman seeking advice; even though several of the professionals reported feeling uneasy about this. CONCLUSION The concept “Ownership of Uncertainty helps advance the understanding of how health care professionals deal with the uncertainty intrinsic to an inconclusive BRCA1/2 genetic test result within the current social context. PMID:21254913

  4. Whatever Happened to Counseling in Counseling Psychology?

    ERIC Educational Resources Information Center

    Scheel, Michael J.; Berman, Margit; Friedlander, Myrna L.; Conoley, Collie W.; Duan, Changming; Whiston, Susan C.

    2011-01-01

    A suspected decline in published counseling-related research in "The Counseling Psychologist" ("TCP") and the "Journal of Counseling Psychology" ("JCP") was investigated through content analyses of the two journals from 1979 to 2008. A marked decline in counseling-related research may signify a shift in emphasis away from counseling as the most…

  5. Molecular-genetic analysis is essential for accurate classification of renal carcinoma resembling Xp11.2 translocation carcinoma.

    PubMed

    Hayes, Malcolm; Peckova, Kvetoslava; Martinek, Petr; Hora, Milan; Kalusova, Kristyna; Straka, Lubomir; Daum, Ondrej; Kokoskova, Bohuslava; Rotterova, Pavla; Pivovarčikova, Kristyna; Branzovsky, Jindrich; Dubova, Magdalena; Vesela, Pavla; Michal, Michal; Hes, Ondrej

    2015-03-01

    tumours can only be sub-classified accurately by multi-parameter molecular-genetic analysis. PMID:25544614

  6. Medical genetics

    SciTech Connect

    Nora, J.J.; Fraser, F.C.

    1989-01-01

    This book presents a discussion of medical genetics for the practitioner treating or counseling patients with genetic disease. It includes a discussion of the relationship of heredity and diseases, the chromosomal basis for heredity, gene frequencies, and genetics of development and maldevelopment. The authors also focus on teratology, somatic cell genetics, genetics and cancer, genetics of behavior.

  7. Preconception Counseling.

    PubMed

    Witt, Kailey; Huntington, Mark K

    2016-03-01

    Preconception counseling is a way to discuss optimizing reproductive age women's health and chronic medical issues to facilitate the healthiest pregnancy possible. Preconception counseling is an important piece of care for reproductive aged women especially as nearly 50 percent of pregnancies in the U.S. are unplanned and important fetal development has already taken place prior to the initial obstetrics visit. Many opportunities are missed to provide this counseling; only approximately one-third of women receive it. Visits to primary care are the ideal time for this to occur. In this paper, topics to discuss will be presented along with some guides to optimizing chronic medical problems to improve pregnancy outcomes. PMID:27156258

  8. Counseling Kids.

    ERIC Educational Resources Information Center

    Peters, Donald L.

    This book targeted especially to those who counsel middle-school through high school students, shares experiences, concepts, happenings, and anecdotes of a school counselor. Concepts are presented for those interested in developing functional orientations in the area of helping relationships. The first chapter discusses the concept of help and…

  9. Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management.

    PubMed

    Roux-Buisson, Nathalie; Rendu, John; Denjoy, Isabelle; Guicheney, Pascale; Goldenberg, Alice; David, Nadine; Faivre, Laurence; Barthez, Olivier; Danieli, Gian Antonio; Marty, Isabelle; Lunardi, Joel; Fauré, Julien

    2011-09-01

    Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare and severe arrhythmogenic disorder. Although usually transmitted in a recessive form, few cases of dominant mutations have been reported. Thirteen mutations in the CASQ2 gene have been reported so far in association with CPVT. We performed molecular analysis of the CASQ2 gene in 43 probands with CPVT and identified eight mutations in five patients. Six mutations were novel: one was a single nucleotide deletion, three affected consensus splice sites, and two had unknown consequences: the c.939 + 5G>C and the synonymous c.381C>T variations. We demonstrated that these two variations affected CASQ2 splicing using a splicing minigene assay. These data increased significantly the number of CASQ2 mutations described in association with CPVT, revealed the high prevalence of splicing and truncating mutations in this gene and brought new insight regarding the dominant inheritance of the disease. Moreover, our report of the first splicing abnormalities in CASQ2 caused by intronic mutation or synonymous change underlines the absolute necessity to perform extensive molecular analysis for genetic diagnosis and counseling of CPVT. PMID:21618644

  10. Uptake of Genetic Counseling, Knowledge of Bleeding risks and Psychosocial Impact in a South African Cohort of Female Relatives of People with Hemophilia.

    PubMed

    Gillham, Anne; Greyling, Brenda; Wessels, Tina-Marie; Mbele, Bongi; Schwyzer, Rosemarie; Krause, Amanda; Mahlangu, Johnny

    2015-12-01

    In excess of 200 people with hemophilia (PWH) and their families have received genetic counseling (GC) at the Hemophilia Comprehensive Care Centre at Charlotte Maxeke Johannesburg Academic Hospital. However, very few of their at-risk female relatives have attended GC to discuss their reproductive risks and options, or their potential bleeding risks. Limited research has been conducted internationally on factors influencing uptake of GC and testing amongst female relatives of PWH. This prospective study aimed to explore the factors that influence the uptake of GC and testing by female relatives of PWH. An open-ended semi-structured interview schedule was developed. Participants included female relatives of PWH who at least had a family member who had received GC. Seventeen participants were interviewed; 7 who had GC previously and 10 who had not. All participants who had previously received GC found the service helpful and were mothers referred because their sons had hemophilia. Of those who had not had GC, possible deterrents included: being unaware of GC service, focus in clinic on PWH and not potential carriers, misunderstood risks related to hemophilia and carrier status, fear of finding out carrier status, and non-disclosure in families. Most participants were unaware of potential bleeding risks for carriers. The information will be used to provide a better service to female relatives of PWH with a goal being to set up a dedicated hemophilia carrier clinic. PMID:25828422

  11. De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.

    PubMed Central

    Wirth, B; Schmidt, T; Hahnen, E; Rudnik-Schöneborn, S; Krawczak, M; Müller-Myhsok, B; Schönling, J; Zerres, K

    1997-01-01

    Spinal muscular atrophy (SMA) is a relatively common autosomal recessive neuromuscular disorder. We have identified de novo rearrangements in 7 (approximately 2%) index patients from 340 informative SMA families. In each, the rearrangements resulted in the absence of the telomeric copy of the survival motor neuron (SMN) gene (telSMN), in two cases accompanied by the loss of the neuronal apoptosis-inhibitory protein gene . Haplotype analysis revealed unequal recombination in four cases, with loss of markers Ag1-CA and C212, which are near the 5' ends of the SMN genes. In one case, an interchromosomal rearrangement involving both the SMN genes and a regrouping of Ag1-CA and C212 alleles must have occurred, suggesting either interchromosomal gene conversion or double recombination. In two cases, no such rearrangement was observed, but loss of telSMN plus Ag1-CA and C212 alleles in one case suggested intrachromosomal deletion or gene conversion. In six of the seven cases, the de novo rearrangement had occurred during paternal meiosis. Direct detection of de novo SMA mutations by molecular genetic means has allowed us to estimate for the first time the mutation rate for a recessive disorder in humans. The sex-averaged rate of 1.1 x 10(-4), arrived at in a proband-based approach, compares well with the rate of 0.9 x 10(-4) expected under a mutation-selection equilibrium for SMA. These findings have important implications for genetic counseling and prenatal diagnosis in that they emphasize the relevance of indirect genotype analysis in combination with direct SMN-gene deletion testing in SMA families. PMID:9345102

  12. Medical Mistrust and Self-efficacy Influence Black Women’s Level of Engagement in BRCA1/2 Genetic Counseling and Testing

    PubMed Central

    Sheppard, Vanessa B.; Mays, Darren; LaVeist, Thomas; Tercyak, Kenneth P.

    2013-01-01

    Clinical evidence supports the value of BRCA1/2 genetic counseling and testing (GC/T) for managing hereditary breast and ovarian cancer risk; however, BRCA1/2 GC/T is underutilized among Black women and reasons for low use remain elusive. We examined the potential influence of socio-cultural factors (medical mistrust, concerns about genetic discrimination) on GC/T engagement in a sample of 100 Black women at increased risk for carrying a BRCA1/2 mutation. Eligible participants fell into one of three groups: 1) healthy women with ≥ 1 first-degree relative (FDR) affected by breast and/or ovarian cancer, 2) women diagnosed with breast cancer at age ≤ 50, and 3) women diagnosed with breast and/or ovarian cancer at age ≥ 50 with either one FDR or two second degree relatives with breast and/or ovarian cancer. Participants were recruited from clinical and community settings and completed a semi-structured interview. Study variable relationships were examined using bivariate tests and multivariate regression analysis. Forty-three percent of participants were aware of GC/T services. Yet referral and receipt of GC/T services in this sample was low (28%). After accounting for sociodemographic factors, women with higher self-efficacy had greater GC/T engagement (B = 0.37, p < .001), while those with higher medical mistrust had lower GC/T engagement (B = −0.26, p <. 01). Interventions targeted towards increasing provider referrals may facilitate higher levels of engagement in GC/T services. Individual interventions that enhance women’s personal confidence in obtaining GC/T may also be useful in promoting GC/T engagement. PMID:23862292

  13. De novo rearrangements found in 2% of index patients with spinal muscular atrophy: mutational mechanisms, parental origin, mutation rate, and implications for genetic counseling.

    PubMed

    Wirth, B; Schmidt, T; Hahnen, E; Rudnik-Schöneborn, S; Krawczak, M; Müller-Myhsok, B; Schönling, J; Zerres, K

    1997-11-01

    Spinal muscular atrophy (SMA) is a relatively common autosomal recessive neuromuscular disorder. We have identified de novo rearrangements in 7 (approximately 2%) index patients from 340 informative SMA families. In each, the rearrangements resulted in the absence of the telomeric copy of the survival motor neuron (SMN) gene (telSMN), in two cases accompanied by the loss of the neuronal apoptosis-inhibitory protein gene . Haplotype analysis revealed unequal recombination in four cases, with loss of markers Ag1-CA and C212, which are near the 5' ends of the SMN genes. In one case, an interchromosomal rearrangement involving both the SMN genes and a regrouping of Ag1-CA and C212 alleles must have occurred, suggesting either interchromosomal gene conversion or double recombination. In two cases, no such rearrangement was observed, but loss of telSMN plus Ag1-CA and C212 alleles in one case suggested intrachromosomal deletion or gene conversion. In six of the seven cases, the de novo rearrangement had occurred during paternal meiosis. Direct detection of de novo SMA mutations by molecular genetic means has allowed us to estimate for the first time the mutation rate for a recessive disorder in humans. The sex-averaged rate of 1.1 x 10(-4), arrived at in a proband-based approach, compares well with the rate of 0.9 x 10(-4) expected under a mutation-selection equilibrium for SMA. These findings have important implications for genetic counseling and prenatal diagnosis in that they emphasize the relevance of indirect genotype analysis in combination with direct SMN-gene deletion testing in SMA families. PMID:9345102

  14. 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

  15. Cancer Genetics Services Directory

    MedlinePlus

    ... Prevention Overview–for health professionals Research NCI Cancer Genetics Services Directory This directory lists professionals who provide services related to cancer genetics (cancer risk assessment, genetic counseling, genetic susceptibility testing, ...

  16. Polyallelic structural variants can provide accurate, highly informative genetic markers focused on diagnosis and therapeutic targets: Accuracy vs. Precision.

    PubMed

    Roses, A D

    2016-02-01

    Structural variants (SVs) include all insertions, deletions, and rearrangements in the genome, with several common types of nucleotide repeats including single sequence repeats, short tandem repeats, and insertion-deletion length variants. Polyallelic SVs provide highly informative markers for association studies with well-phenotyped cohorts. SVs can influence gene regulation by affecting epigenetics, transcription, splicing, and/or translation. Accurate assays of polyallelic SV loci are required to define the range and allele frequency of variable length alleles. PMID:26517180

  17. Juvenile Diabetes and Rehabilitation Counseling.

    ERIC Educational Resources Information Center

    Stone, J. Blair; Gregg, Charles H.

    1981-01-01

    Severe complications of diabetes are more likely to occur with the juvenile diabetic and problems of psychosocial adjustment are recurring and difficult. Implications for the rehabilitation counselor are discussed in terms of employment considerations, the effects of complications, genetic counseling, and cooperation with other professionals.…

  18. Analysis of factor VIII gene inversion mutations in 166 unrelated haemophilia A families: frequency and utility in genetic counselling.

    PubMed

    Vnencak-Jones, C L; Iii, J A; Janco, R L; Cohen, M P; Dupont, W D; Kazazian, H H; Rossiter, J P

    1996-01-01

    Haemophilia A is an X-linked recessive bleeding disorder of variable severity that is caused by a deficiency of coagulation factor VIII (FVIII). The disease results from mutations in the FVIII gene which are heterogenous both in type and position within the gene. Recently, however, inversion mutations were found to be common to patients with severe disease (Lakich et al., 1993). These mutations result from intrachromosomal recombinations between DNA sequences in the A gene (located in intron 22 of the FVIII gene) and one of two A genes upstream to the FVIII gene. To determine the frequency of these inversions we performed Southern blot analysis on banked DNA from 166 consecutive, unrelated haemophilia A families previously referred for carrier or prenatal testing. In 57/166 (34%) families an inversion or other unique mutation was detected. The distal and proximal A genes lying upstream to the FVIII gene were involved in 79% and 18% of the mutations, respectively, but in 3% of the families the sequences involved in the mutation have not been identified. In 20/38 (53%) families with severe disease a mutation was detected. Interestingly, the relative risk of developing inhibitors in patients with FVIII gene inversions or other 3° mutations detected by this assay, as compared to patients with no detectable mutation by this assay, was 3.8. In families for which a mutation is detected, direct DNA testing is an accurate and inexpensive alternative to linkage analysis for prenatal or haemophilia A carrier testing. PMID:27213900

  19. BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study.

    PubMed

    Høberg-Vetti, Hildegunn; Bjorvatn, Cathrine; Fiane, Bent E; Aas, Turid; Woie, Kathrine; Espelid, Helge; Rusken, Tone; Eikesdal, Hans Petter; Listøl, Wenche; Haavind, Marianne T; Knappskog, Per M; Haukanes, Bjørn Ivar; Steen, Vidar M; Hoogerbrugge, Nicoline

    2016-06-01

    Germline BRCA1/2 testing of breast and ovarian cancer patients is growing rapidly as the result affects both treatment and cancer prevention in patients and relatives. Through the DNA-BONus study we offered BRCA1/2 testing and familial risk assessment to all new patients with breast (N=893) or ovarian (N=122) cancer diagnosed between September 2012 and April 2015, irrespective of family history or age, and without prior face-to-face genetic counselling. BRCA1/2 testing was accepted by 405 (45.4%) and 83 (68.0%) of the patients with breast or ovarian cancer, respectively. A pathogenic BRCA1/2 variant was found in 7 (1.7%) of the breast cancer patients and 19 (22.3%) of the ovarian cancer patients. In retrospect, all BRCA1/2 mutation carriers appeared to fulfill current criteria for BRCA1/2 testing. Hospital Anxiety and Depression Scale (HADS) scores showed that the mean levels of anxiety and depression were comparable to those reported for breast and gynecological cancer patients in general, with a significant drop in anxiety symptoms during a 6-month follow-up period, during which the test result was forwarded to the patients. These results show that BRCA1/2 testing is well accepted in newly diagnosed breast and ovarian cancer patients. Current test criteria based on age and family history are sufficient to identify most BRCA1/2 mutation carriers among breast cancer patients. We recommend germline BRCA1/2 testing in all patients with epithelial ovarian cancer because of the high prevalence of pathogenic BRCA1/2 variants. PMID:26350514

  20. Novel base-pairing interactions at the tRNA wobble position crucial for accurate reading of the genetic code

    NASA Astrophysics Data System (ADS)

    Rozov, Alexey; Demeshkina, Natalia; Khusainov, Iskander; Westhof, Eric; Yusupov, Marat; Yusupova, Gulnara

    2016-01-01

    Posttranscriptional modifications at the wobble position of transfer RNAs play a substantial role in deciphering the degenerate genetic code on the ribosome. The number and variety of modifications suggest different mechanisms of action during messenger RNA decoding, of which only a few were described so far. Here, on the basis of several 70S ribosome complex X-ray structures, we demonstrate how Escherichia coli tRNALysUUU with hypermodified 5-methylaminomethyl-2-thiouridine (mnm5s2U) at the wobble position discriminates between cognate codons AAA and AAG, and near-cognate stop codon UAA or isoleucine codon AUA, with which it forms pyrimidine-pyrimidine mismatches. We show that mnm5s2U forms an unusual pair with guanosine at the wobble position that expands general knowledge on the degeneracy of the genetic code and specifies a powerful role of tRNA modifications in translation. Our models consolidate the translational fidelity mechanism proposed previously where the steric complementarity and shape acceptance dominate the decoding mechanism.

  1. Novel base-pairing interactions at the tRNA wobble position crucial for accurate reading of the genetic code.

    PubMed

    Rozov, Alexey; Demeshkina, Natalia; Khusainov, Iskander; Westhof, Eric; Yusupov, Marat; Yusupova, Gulnara

    2016-01-01

    Posttranscriptional modifications at the wobble position of transfer RNAs play a substantial role in deciphering the degenerate genetic code on the ribosome. The number and variety of modifications suggest different mechanisms of action during messenger RNA decoding, of which only a few were described so far. Here, on the basis of several 70S ribosome complex X-ray structures, we demonstrate how Escherichia coli tRNA(Lys)(UUU) with hypermodified 5-methylaminomethyl-2-thiouridine (mnm(5)s(2)U) at the wobble position discriminates between cognate codons AAA and AAG, and near-cognate stop codon UAA or isoleucine codon AUA, with which it forms pyrimidine-pyrimidine mismatches. We show that mnm(5)s(2)U forms an unusual pair with guanosine at the wobble position that expands general knowledge on the degeneracy of the genetic code and specifies a powerful role of tRNA modifications in translation. Our models consolidate the translational fidelity mechanism proposed previously where the steric complementarity and shape acceptance dominate the decoding mechanism. PMID:26791911

  2. Novel base-pairing interactions at the tRNA wobble position crucial for accurate reading of the genetic code

    PubMed Central

    Rozov, Alexey; Demeshkina, Natalia; Khusainov, Iskander; Westhof, Eric; Yusupov, Marat; Yusupova, Gulnara

    2016-01-01

    Posttranscriptional modifications at the wobble position of transfer RNAs play a substantial role in deciphering the degenerate genetic code on the ribosome. The number and variety of modifications suggest different mechanisms of action during messenger RNA decoding, of which only a few were described so far. Here, on the basis of several 70S ribosome complex X-ray structures, we demonstrate how Escherichia coli tRNALysUUU with hypermodified 5-methylaminomethyl-2-thiouridine (mnm5s2U) at the wobble position discriminates between cognate codons AAA and AAG, and near-cognate stop codon UAA or isoleucine codon AUA, with which it forms pyrimidine–pyrimidine mismatches. We show that mnm5s2U forms an unusual pair with guanosine at the wobble position that expands general knowledge on the degeneracy of the genetic code and specifies a powerful role of tRNA modifications in translation. Our models consolidate the translational fidelity mechanism proposed previously where the steric complementarity and shape acceptance dominate the decoding mechanism. PMID:26791911

  3. DNA extraction techniques compared for accurate detection of genetically modified organisms (GMOs) in maize food and feed products.

    PubMed

    Turkec, Aydin; Kazan, Hande; Karacanli, Burçin; Lucas, Stuart J

    2015-08-01

    In this paper, DNA extraction methods have been evaluated to detect the presence of genetically modified organisms (GMOs) in maize food and feed products commercialised in Turkey. All the extraction methods tested performed well for the majority of maize foods and feed products analysed. However, the highest DNA content was achieved by the Wizard, Genespin or the CTAB method, all of which produced optimal DNA yield and purity for different maize food and feed products. The samples were then screened for the presence of GM elements, along with certified reference materials. Of the food and feed samples, 8 % tested positive for the presence of one GM element (NOS terminator), of which half (4 % of the total) also contained a second element (the Cauliflower Mosaic Virus 35S promoter). The results obtained herein clearly demonstrate the presence of GM maize in the Turkish market, and that the Foodproof GMO Screening Kit provides reliable screening of maize food and feed products. PMID:26243938

  4. Utilizing Current Counseling Theory in Elementary Counseling.

    ERIC Educational Resources Information Center

    Davis, Howard V.

    This paper discusses the comparative newness of elementary school counseling, and the need to develop theoretical bases which, of course, are psychologically and educationally sound. Various theoretical models which have meaning for elementary counseling are considered. These include: (1) developmental and/or growth counseling theory which…

  5. Counseling Psychology and Professional School Counseling

    ERIC Educational Resources Information Center

    Pope, Mark

    2004-01-01

    This article provides a historical, political, and organizational analysis regarding counseling psychology's involvement in professional school counseling. Issues discussed include collaboration, curriculum and training, and professional identity, as well as the commonalities that bind counselor education/professional school counseling and…

  6. Factors for Personal Counseling among Counseling Trainees

    ERIC Educational Resources Information Center

    Byrne, J. Stephen; Shufelt, Brett

    2014-01-01

    The present study explored the use of counseling among counselor trainees and the characteristics of consumers and nonconsumers. Approximately 61% of those surveyed (n = 85) reported that they had received counseling, with the majority being mental health counseling trainees. Nonconsumers (n = 54) indicated that they coped with problems in other…

  7. Non-Invasive Testing, Non-Invasive Counseling.

    PubMed

    Rebouché, Rachel

    2015-01-01

    This article describes a new prenatal genetic test that is painless, early, and increasingly available. State legislatures have reacted by prohibiting abortion for reason of fetal sex or of fetal diagnosis and managing genetic counseling. This article explores these legislative responses and considers how physicians and genetic counselors currently communicate post-testing options. The article then examines the challenges ahead for genetic counseling, particularly in light of the troubling grip of abortion politics on conversations about prenatal diagnosis. PMID:26242943

  8. Counseling Torture Victims.

    ERIC Educational Resources Information Center

    Whittaker, Shaun R.

    1988-01-01

    Addresses the psychological effects of torture (including solitary confinement) and the implications of torture for counseling and the counseling psychology profession. Discusses counseling issues related to diagnosis of torture victims, treatment, special considerations for counselors, use of testimony as counseling technique, and prognosis.…

  9. Substance Abuse and Counseling.

    ERIC Educational Resources Information Center

    Sales, Amos, Ed.

    This book focuses on the identification of practical knowledge and skills needed for counseling individuals with substance abuse problems. It is a resource for practitioners, students, and faculty in school counseling, rehabilitation counseling, mental health counseling, school psychology, or social work in recognizing, preventing, and treating…

  10. Applying the New Genetics

    ERIC Educational Resources Information Center

    Sorenson, James

    1976-01-01

    New developments in the prediction and treatment of genetic diseases are presented. Genetic counseling and the role of the counselor, and rights of individuals to reproduce versus societal impact of genetic disorders, are discussed. (RW)

  11. Genetic Testing for ALS

    MedlinePlus

    ... Involved Donate Familial Amyotrophic Lateral Sclerosis (FALS) and Genetic Testing By Deborah Hartzfeld, MS, CGC, Certified Genetic ... guarantee a person will develop symptoms of ALS. Genetic Counseling If there is more than one person ...

  12. Race-specific genetic risk score is more accurate than nonrace-specific genetic risk score for predicting prostate cancer and high-grade diseases

    PubMed Central

    Na, Rong; Ye, Dingwei; Qi, Jun; Liu, Fang; Lin, Xiaoling; Helfand, Brian T; Brendler, Charles B; Conran, Carly; Gong, Jian; Wu, Yishuo; Gao, Xu; Chen, Yaqing; Zheng, S Lilly; Mo, Zengnan; Ding, Qiang; Sun, Yinghao; Xu, Jianfeng

    2016-01-01

    Genetic risk score (GRS) based on disease risk-associated single nucleotide polymorphisms (SNPs) is an informative tool that can be used to provide inherited information for specific diseases in addition to family history. However, it is still unknown whether only SNPs that are implicated in a specific racial group should be used when calculating GRSs. The objective of this study is to compare the performance of race-specific GRS and nonrace-specific GRS for predicting prostate cancer (PCa) among 1338 patients underwent prostate biopsy in Shanghai, China. A race-specific GRS was calculated with seven PCa risk-associated SNPs implicated in East Asians (GRS7), and a nonrace-specific GRS was calculated based on 76 PCa risk-associated SNPs implicated in at least one racial group (GRS76). The means of GRS7 and GRS76 were 1.19 and 1.85, respectively, in the study population. Higher GRS7 and GRS76 were independent predictors for PCa and high-grade PCa in univariate and multivariate analyses. GRS7 had a better area under the receiver-operating curve (AUC) than GRS76 for discriminating PCa (0.602 vs 0.573) and high-grade PCa (0.603 vs 0.575) but did not reach statistical significance. GRS7 had a better (up to 13% at different cutoffs) positive predictive value (PPV) than GRS76. In conclusion, a race-specific GRS is more robust and has a better performance when predicting PCa in East Asian men than a GRS calculated using SNPs that are not shown to be associated with East Asians. PMID:27140652

  13. Race-specific genetic risk score is more accurate than nonrace-specific genetic risk score for predicting prostate cancer and high-grade diseases.

    PubMed

    Na, Rong; Ye, Dingwei; Qi, Jun; Liu, Fang; Lin, Xiaoling; Helfand, Brian T; Brendler, Charles B; Conran, Carly; Gong, Jian; Wu, Yishuo; Gao, Xu; Chen, Yaqing; Zheng, S Lilly; Mo, Zengnan; Ding, Qiang; Sun, Yinghao; Xu, Jianfeng

    2016-01-01

    Genetic risk score (GRS) based on disease risk-associated single nucleotide polymorphisms (SNPs) is an informative tool that can be used to provide inherited information for specific diseases in addition to family history. However, it is still unknown whether only SNPs that are implicated in a specific racial group should be used when calculating GRSs. The objective of this study is to compare the performance of race-specific GRS and nonrace-specific GRS for predicting prostate cancer (PCa) among 1338 patients underwent prostate biopsy in Shanghai, China. A race-specific GRS was calculated with seven PCa risk-associated SNPs implicated in East Asians (GRS7), and a nonrace-specific GRS was calculated based on 76 PCa risk-associated SNPs implicated in at least one racial group (GRS76). The means of GRS7 and GRS76 were 1.19 and 1.85, respectively, in the study population. Higher GRS7 and GRS76 were independent predictors for PCa and high-grade PCa in univariate and multivariate analyses. GRS7 had a better area under the receiver-operating curve (AUC) than GRS76 for discriminating PCa (0.602 vs 0.573) and high-grade PCa (0.603 vs 0.575) but did not reach statistical significance. GRS7 had a better (up to 13% at different cutoffs) positive predictive value (PPV) than GRS76. In conclusion, a race-specific GRS is more robust and has a better performance when predicting PCa in East Asian men than a GRS calculated using SNPs that are not shown to be associated with East Asians. PMID:27140652

  14. Genetic technology: Promises and problems

    NASA Technical Reports Server (NTRS)

    Frankel, M. S.

    1975-01-01

    Issues concerning the use of genetic technology are discussed. Some areas discussed include treating genetic disease, prenatal diagnosis and selective abortion, screening for genetic disease, and genetic counseling. Policy issues stemming from these capabilities are considered.

  15. Randomized Controlled Trial of the Effectiveness of Genetic Counseling and a Distance, Computer-Based, Lifestyle Intervention Program for Adult Offspring of Patients with Type 2 Diabetes: Background, Study Protocol, and Baseline Patient Characteristics

    PubMed Central

    Nishigaki, M.; Tokunaga-Nakawatase, Y.; Nishida, J.; Taru, C.; Miyawaki, I.; Sanada, H.; Kazuma, K.

    2012-01-01

    Relatives of type 2 diabetic patients are at a high risk of developing type 2 diabetes and should be regarded as target of intervention for diabetes prevention. However, it is usually hard to motivate them to implement preventive lifestyle changes, because of lack of opportunity to take advises from medical professionals, inadequate risk perception, and low priority for preventive behavior. Prevention strategy for them therefore should be highly acceptable and suited for them. The parallel, three-group trial is now being conducted to investigate the effects of genetic counseling and/or a computerized behavioral program on the prevention of type 2 diabetes in that population. The preventive strategies used in this study could provide a novel solution to the numbers of genetically high-risk individuals, if found to be effective. The objective of this paper is to describe the background, protocol, and baseline patient characteristics of the trial. PMID:22619705

  16. Medical genetics

    SciTech Connect

    Jorde, L.B.; Carey, J.C.; White, R.L.

    1995-10-01

    This book on the subject of medical genetics is a textbook aimed at a very broad audience: principally, medical students, nursing students, graduate, and undergraduate students. The book is actually a primer of general genetics as applied to humans and provides a well-balanced introduction to the scientific and clinical basis of human genetics. The twelve chapters include: Introduction, Basic Cell Biology, Genetic Variation, Autosomal Dominant and Recessive Inheritance, Sex-linked and Mitochondrial Inheritance, Clinical Cytogenetics, Gene Mapping, Immunogenetics, Cancer Genetics, Multifactorial Inheritance and Common Disease, Genetic Screening, Genetic Diagnosis and Gene Therapy, and Clinical Genetics and Genetic Counseling.

  17. Using the Genetics Home Reference Website | NIH MedlinePlus the Magazine

    MedlinePlus

    ... of this page please turn Javascript on. Feature: Genetics 101 Using the Genetics Home Reference Website Past Issues / Summer 2013 Table ... as the GHR website keeps growing. What Is Genetic Counseling? Genetic counseling provides information and support to ...

  18. Benefits of Required Counseling for Counseling Students

    ERIC Educational Resources Information Center

    Prosek, Elizabeth A.; Holm, Jessica M.; Daly, Cynthia M.

    2013-01-01

    Graduate students experience mental health distress. The authors investigated the benefits of required counseling services at a training clinic for students enrolled in counseling courses. Results indicated that after receiving services, students ("N" = 55) reported decreases in overall problems, depressive symptoms, and anxiety…

  19. Positive: HIV Affirmative Counseling.

    ERIC Educational Resources Information Center

    Kain, Craig D.

    At the end of the 1980s, counselors largely lacked an integrated approach to counseling people living with HIV disease. This book describes the experience of counseling this group of persons. The major premise here is that counselors who counsel HIV-positive clients must come to understand and affirm their clients' experiences. The text defines a…

  20. Counseling in Alcoholism.

    ERIC Educational Resources Information Center

    Lewis, Brian J.

    This paper examines the counseling of alcoholics in an effort to determine its value and significance. It includes a cursory look at the development, etiology and history of treatment methods and the role of personality theory. However, the main emphasis is on the different types of counseling used in each particular counseling setting. The…

  1. Counseling with Deaf People.

    ERIC Educational Resources Information Center

    Sussman, Allen E., Ed.; Stewart, Larry G., Ed.

    The book presents information on effective counseling with deaf people by discussing issues that confront counselors and administrators involved in providing counseling services to deaf people. A basic assumption of the book is that deaf people of all ages have been frequently denied counseling services due to communication problems between…

  2. Workplace Counseling Tools.

    ERIC Educational Resources Information Center

    Kirk, James J.; Woody, Connie; Burns, Naomi; Howard, Sherrie; Rice, Misty

    This publication describes counseling approaches supervisors and human resource professionals can use to help marginal employees become better adjusted and more productive in the workplace. Three case studies are also provided for training purposes. The counseling tools are as follows: (1) Adlerian counseling, involving the belief that humans'…

  3. Competencies for Gerontological Counseling.

    ERIC Educational Resources Information Center

    Myers, Jane E.; Schwiebert, Valerie L.

    Gerontological counseling as a counseling specialty spans only 20 years. This text incorporates into its framework the 16 Minimum Essential Competencies of gerontological counseling that have been developed over the past two decades. These competencies focus on the knowledge and skills required to be an effective counselor for older persons and…

  4. [When to refer patients for oncogenetic counseling?].

    PubMed

    Viassolo, Valeria; Chappuis, Pierre O

    2016-05-18

    Approximately 5 to 10% of all malignant tumors can be attributed to highly penetrant cancer predisposition genes. More than 100 of these genes have been identified. Taking into account the complexity and the various implications of predictive oncology, and in accordance with the current regulation, every constitutional molecular analysis must be performed within the framework of a genetic counseling. Besides the implementation of the next generation sequencing technology in clinical laboratory, family history remains a key information to identify hereditary cancer syndromes and to propose genetic counseling. New challenge areas for clinicians involved in predictive oncology are also associated with this technical revolution. PMID:27424422

  5. Development of a Novel Reference Plasmid for Accurate Quantification of Genetically Modified Kefeng6 Rice DNA in Food and Feed Samples

    PubMed Central

    Zhang, Xiujie; Wan, Yusong

    2013-01-01

    Reference plasmids are an essential tool for the quantification of genetically modified (GM) events. Quantitative real-time PCR (qPCR) is the most commonly used method to characterize and quantify reference plasmids. However, the precision of this method is often limited by calibration curves, and qPCR data can be affected by matrix differences between the standards and samples. Here, we describe a digital PCR (dPCR) approach that can be used to accurately measure the novel reference plasmid pKefeng6 and quantify the unauthorized variety of GM rice Kefeng6, eliminating the issues associated with matrix effects in calibration curves. The pKefeng6 plasmid was used as a calibrant for the quantification of Kefeng6 rice by determining the copy numbers of event- (77 bp) and taxon-specific (68 bp) fragments, their ratios, and their concentrations. The plasmid was diluted to five different concentrations. The third sample (S3) was optimized for the quantification range of dPCR according to previous reports. The ratio between the two fragments was 1.005, which closely approximated the value certified by sequencing, and the concentration was found to be 792 copies/μL. This method was precise, with an RSD of ~3%. These findings demonstrate the advantages of using the dPCR method to characterize reference materials. PMID:24324952

  6. Genetics Home Reference: porphyria

    MedlinePlus

    ... of iron in the liver, alcohol consumption, smoking, hepatitis C or HIV infection, or certain hormones. Mutations in ... Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are genetic conditions ...

  7. Genetics Home Reference: retinoblastoma

    MedlinePlus

    ... Arias VE. Trilateral retinoblastoma. Pediatr Blood Cancer. 2007 Mar;48(3):306-10. Review. Citation on PubMed ... for genetic counseling. Am J Hum Genet. 1998 Mar;62(3):610-9. Citation on PubMed or ...

  8. 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…

  9. Genetics

    MedlinePlus

    Homozygous; Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  10. Genetics

    MedlinePlus

    ... Inheritance; Heterozygous; Inheritance patterns; Heredity and disease; Heritable; Genetic markers ... The chromosomes are made up of strands of genetic information called DNA. Each chromosome contains sections of ...

  11. Marketing pastoral counseling.

    PubMed

    Lageman, A G

    1984-12-01

    Identifies, suggests understandings, and illustrates applications of marketing principles as they relate to pastoral counseling services. Describes four approaches to marketing pastoral counseling--traditional, educational, marketing, and fund raising--and gives illustrations of each. A director of an established pastoral counseling center responds to the article in terms of "high density" and "low density" principles and suggests that strategies which emulate the medical model may need to be re-examined by contemporary pastoral counselors. PMID:10269463

  12. Therapy and Counseling

    MedlinePlus

    ... from the following areas among others: psychiatry, clinical psychology, mental health counseling, clinical social work, marriage and family ... Cognitive Therapy for Depression by SJ Rupke, M.D., ...

  13. Predictive testing of eighteen year olds: counseling challenges.

    PubMed

    Gaff, Clara L; Lynch, Elly; Spencer, Lesley

    2006-08-01

    Genetic counseling of teenagers is challenging and complex. The ability to think abstractly, a sense of self and independence from family all develop during adolescence. Predictive genetic testing counseling protocols presuppose that these qualities exist, requiring the at-risk individual to consider the short and long term consequences of testing as well as their motivations. Eighteen year olds are in transition from adolescence to adulthood; eligible for predictive genetic testing, they may not yet be independent of their family or able to articulate their feelings. This paper presents case studies from the authors' clinical practice to illustrate some of the difficulties faced by genetic counselors when 18 year olds request predictive testing for Hereditary Non-Polyposis Colorectal Cancer. By reflecting upon their experiences with these young adults and their families, the authors' intention is to generate discussion about genetic counseling strategies, particularly for predictive genetic testing, that are both age-appropriate and family-sensitive. PMID:16865560

  14. Counseling Bisexual Clients.

    ERIC Educational Resources Information Center

    Smiley, Elizabeth B.

    1997-01-01

    Provides a brief conceptual statement about bisexuality. Offers a review of existing research studies, and suggests issues to consider when counseling bisexual clients. Defines bisexuality and discusses prevalence studies, identity development, and implications for counseling. Claims that bisexuality challenges traditional rules about sexual…

  15. Futureprint Counseling Design.

    ERIC Educational Resources Information Center

    Guillen, Mary A.

    A junior high school level program combines reading instruction with guidance counseling. Students become aware of their personal dignity, worth, and responsibility. An introduction to the rationale of classroom counseling precedes 6 sections of course materials and techniques. A section on values clarification contains exercises examining…

  16. Career Counseling in Cyberspace.

    ERIC Educational Resources Information Center

    Sherman, Douglas

    1994-01-01

    The Job Complex, a forum on career- and job-related concerns, was designed to allow for communication among clients and counselors. Although limitations in online communication do exist, the positives to cyber counseling include efficacy of the counseling approach; increased focus; elimination of prejudicial reactions; broadening perspectives;…

  17. The Marketing of Counseling.

    ERIC Educational Resources Information Center

    Walz, Garry R.

    Counseling and human services in the 1990s will be different from counseling today. Among the changes to be expected will be a shift of emphasis from a client specialty focus to a focus on life decisions and planning; from a traditional case load approach to a demand for high output and performance; and from a professional services orientation to…

  18. Counseling in Ireland

    ERIC Educational Resources Information Center

    O'Morain, Padraig; McAuliffe, Garrett J.; Conroy, Kayte; Johnson, Jennifer M.; Michel, Rebecca E.

    2012-01-01

    Counseling in Ireland has experienced rapid growth in the past 30 years. Public attitudes toward counseling have become more positive, especially with the increasing secularization of a once strongly religious Catholic society. Licensure is nonexistent but there are certification bodies that attempt to ensure qualified practice. There is no…

  19. Crisis Counseling: An Overview

    ERIC Educational Resources Information Center

    Sandoval, Jonathan; Scott, Amy Nicole; Padilla, Irene

    2009-01-01

    Psychologists working in schools are often the first contacts for children experiencing a potentially traumatizing event or change in status. This article reviews basic concepts in crisis counseling and describes the components of psychological first aid. This form of counseling must be developmentally and culturally appropriate as well as…

  20. Counseling in Singapore

    ERIC Educational Resources Information Center

    Yeo, Lay See; Tan, Soo Yin; Neihart, Maureen F.

    2012-01-01

    Singapore, a tiny island nation, rose from 3rd- to 1st-world status in just 3 decades. Unlike in most developed countries, counseling in Singapore has a short history with faith-based beginnings and currently faces challenges to remain culturally relevant. The authors trace the development of Singapore's counseling services, provide an update…

  1. Adult Counseling Project.

    ERIC Educational Resources Information Center

    Perrone, Phil; Davis, Sandy A.

    In order to determine the specific counseling needs of the adult learner, staff of the Adult Counseling Project began by conducting a literature search pertaining to the problems of returning students and those considering a return to school. The review revealed that little is known about the educational and vocational needs of the returning…

  2. Counseling Exceptional People.

    ERIC Educational Resources Information Center

    Benjamin, Libby; Walz, Garry R.

    This guide offers counselors and special education and classroom teachers assistance in counseling handicapped children. Major articles focus on counseling children who are mentally retarded, emotionally, visually and hearing impaired, learning disabled, and gifted. Additional information is provided on: (1) sexual fulfillment for the handicapped;…

  3. Improvisation in Counseling.

    ERIC Educational Resources Information Center

    Straehle, Manfred; Soucar, Beth

    This paper explores the supportive and effective uses of improvisation in counseling. Specifically, the intention in this paper is to accomplish three goals: to explore the history of improvisation in psychotherapy, to examine the aspects of improvisation that pertain to the counseling process, and to identify ways in which the use of…

  4. Publishing International Counseling Articles

    ERIC Educational Resources Information Center

    Hohenshil, Thomas H.; Amundson, Norman E.

    2011-01-01

    This article begins with a rationale for including international articles in the "Journal of Counseling & Development." Then, 2 general categories of international articles are described. First are articles that provide a general overview of counseling in a particular country. The 2nd category is more general and might involve international…

  5. Detention Room Counseling

    ERIC Educational Resources Information Center

    Salem, Terry

    1973-01-01

    This article describes how the detention room in one school system was changed in favor of group counseling sessions. In the counseling sessions, the counselors could aid students in identifying the problems which disturb them in order to improve self-understanding and status in school. (JC)

  6. Counseling in Greece

    ERIC Educational Resources Information Center

    Malikiosi-Loizos, Maria; Ivey, Allen E.

    2012-01-01

    There is rapid growth in Greece's professional and research activity in counseling, despite the lack of a clear professional identity for the field. It is hoped this will be overcome through the newly started graduate programs. Opportunities, objectives, and strategies for counseling's advancement should be directed toward close and essential…

  7. Malpractice in Counseling Neuropsychology.

    ERIC Educational Resources Information Center

    Woody, Robert Henley

    1992-01-01

    Responds to earlier four articles on integration of counseling psychology and neuropsychology by noting that neuropsychology occurs in settings with high risk of legal complaints. Contends that aspiration to press counseling psychology toward clinical neuropsychology should be filtered through consideration for legal risk. Explores legal…

  8. Genetic evaluation of male infertility

    PubMed Central

    2014-01-01

    Men with severe oligospermia (<5 million sperm/mL ejaculate fluid) or azoospermia should receive genetic testing to clarify etiology of male infertility prior to treatment. Categorization by obstructive azoospermia (OA) or non-obstructive azoospermia (NOA) is critical since genetic testing differs for the former with normal testicular function, testicular volume (~20 mL), and follicle-stimulating hormone (FSH) (1-8 IU/mL) when compared to the latter with small, soft testes and increased FSH. History and physician examination along with laboratory testing (following appropriate genetic counseling) is critical to accurate selection of genetic testing appropriate for azoospermia due to primary testicular failure as compared with congenital hypogonadotropic hypogonadism (HH). Genetic testing options include cystic fibrosis transmembrane conductance regulator (CFTR) testing for men with congenital absence of the vas, while karyotype, Y chromosome microdeletions (YCMD), and other specific genetic tests may be warranted depending on the clinical context of severe oligospermia or NOA. The results of genetic testing guide management options. The most recent techniques for genetic analysis, including sperm microRNA (miRNA) and epigenetics, are forming the foundation for future genetic diagnosis and therapeutic targets in male infertility. PMID:26813518

  9. Genetic neurological channelopathies: molecular genetics and clinical phenotypes

    PubMed Central

    Spillane, J; Kullmann, D M; Hanna, M G

    2016-01-01

    Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact on almost any area of neurological practice. Typically, neurological channelopathies are inherited in an autosomal dominant fashion and cause paroxysmal disturbances of neurological function, although the impairment of function can become fixed with time. These disorders are individually rare, but an accurate diagnosis is important as it has genetic counselling and often treatment implications. Furthermore, the study of less common ion channel mutation-related diseases has increased our understanding of pathomechanisms that is relevant to common neurological diseases such as migraine and epilepsy. Here, we review the molecular genetic and clinical features of inherited neurological channelopathies. PMID:26558925

  10. Genetic neurological channelopathies: molecular genetics and clinical phenotypes.

    PubMed

    Spillane, J; Kullmann, D M; Hanna, M G

    2016-01-01

    Evidence accumulated over recent years has shown that genetic neurological channelopathies can cause many different neurological diseases. Presentations relating to the brain, spinal cord, peripheral nerve or muscle mean that channelopathies can impact on almost any area of neurological practice. Typically, neurological channelopathies are inherited in an autosomal dominant fashion and cause paroxysmal disturbances of neurological function, although the impairment of function can become fixed with time. These disorders are individually rare, but an accurate diagnosis is important as it has genetic counselling and often treatment implications. Furthermore, the study of less common ion channel mutation-related diseases has increased our understanding of pathomechanisms that is relevant to common neurological diseases such as migraine and epilepsy. Here, we review the molecular genetic and clinical features of inherited neurological channelopathies. PMID:26558925

  11. Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing.

    PubMed

    Arora, Shubhangi; Haverfield, Eden; Richard, Gabriele; Haga, Susanne B; Mills, Rachel

    2016-04-01

    Currently, there are limited data regarding the practice of genetic counseling for whole exome sequencing (WES). Improved understanding of how genetic counselors and other providers are educating, counseling, and communicating results may identify practice trends, and patient or provider needs. Between April 2013 and December 2014, we surveyed providers who ordered WES testing from GeneDx, a CLIA-certified laboratory. Forty-nine respondents completed the survey; 41 % of participants reported board certification in genetic counseling. Pre-test and post-test counseling was completed in all but one case each. Pre-test counseling lasted less than 1 h for 53 % of cases and 1 to 2 h for 43 %. Topics discussed with all patients included consent for testing, and incidental findings; other topics were variable. In contrast to pre-test counseling, 59 % reported post-test counseling lasting 1 to 2 h and 33 % less than an hour; post-testing counseling was significantly longer in cases with a definitive diagnosis than those without (p = 0.0129). The survey findings indicate some variability regarding the amount of time spent on counseling and the topics discussed during pre-test counseling. Additional exploration, patient and provider educational resources, and potentially more specific guidelines regarding counseling for WES may be warranted. PMID:26283062

  12. 2001: A Counseling Odyssey

    ERIC Educational Resources Information Center

    Hays, Donald G.

    1978-01-01

    The author categories futurists into three types and then discusses futurists and crises and counseling strategies in an attempt to bring about congruence and to assist counselors to become aware of and recognize their role in shaping the future. (Author)

  13. Counseling the Coronary Patient

    ERIC Educational Resources Information Center

    Semmler, Caryl; Semmler, Maynard

    1974-01-01

    The article discusses counseling sessions designed to a) help the coronary patient adjust to cardiovascular disease, b) diminish patient anxieties and fears, and c) educate the patient and family members on controlling risk factors to deter another coronary attack. (JS)

  14. Technology and Counseling

    ERIC Educational Resources Information Center

    Loughary, John W.

    1977-01-01

    Today's world is vastly technological, and counselors need to keep abreast of advances in computer science, biofeedback, and other technical systems. Counseling and technology from a larger perspective define technology as concepts and methods as well as hardware. (Author)

  15. Biorhythm in Couple Counseling

    ERIC Educational Resources Information Center

    Araoz, Daniel L.

    1977-01-01

    Twelve couples in marital counseling were studied during 12 months on the basis of their biorhythms. For each couple a compatibility percentage was obtained. It was found that difficulties in their interaction correlated highly with dissonance in their biorhythms. (Author)

  16. Evaluating Counseling Outcomes.

    ERIC Educational Resources Information Center

    Smyer, Michael A.; Intrieri, Robert C.

    1990-01-01

    Defines the range of interventions considered under the rubric of counseling for the elderly. Uses evaluation of treatments for depression among the elderly to exemplify the current state of outcome-evaluation research. (Author)

  17. 38 CFR 21.3100 - Counseling.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.3100.... Chapter 35 Counseling § 21.3100 Counseling. (a) Purpose of counseling. The purpose of counseling is to...)) (b) Availability of counseling. Counseling assistance is available for— (1) Identifying and...

  18. Thoughts on Human Genetics Education.

    ERIC Educational Resources Information Center

    Epstein, Charles J.

    1980-01-01

    The director of the Birth Defects Center at the University of California at San Francisco addresses the reasons for developing good ways of teaching human genetics. Genetic counseling is discussed within the context of several case histories. (SA)

  19. Genetics Home Reference: 47,XYY syndrome

    MedlinePlus

    ... Bender BG, Robinson A. Genetic counseling for sex chromosome abnormalities. Am J Med Genet. 2002 Jun 1;110( ... one prenatally diagnosed children and adolescents with sex chromosome abnormalities. Am J Med Genet. 2002 Jun 1;110( ...

  20. Genetics Home Reference: triple X syndrome

    MedlinePlus

    ... Bender BG, Robinson A. Genetic counseling for sex chromosome abnormalities. Am J Med Genet. 2002 Jun 1;110( ... one prenatally diagnosed children and adolescents with sex chromosome abnormalities. Am J Med Genet. 2002 Jun 1;110( ...

  1. An Overview of Mutation Detection Methods in Genetic Disorders

    PubMed Central

    Mahdieh, Nejat; Rabbani, Bahareh

    2013-01-01

    Genetic disorders are traditionally categorized into three main groups: single-gene, chromosomal, and multifactorial disorders. Single gene or Mendelian disorders result from errors in DNA sequence of a gene and include autosomal dominant (AD), autosomal recessive (AR), X-linked recessive (XR), X-linked dominant and Y-linked (holandric) disorders. Chromosomal disorders are due to chromosomal aberrations including numerical and structural damages. Molecular and cytogenetic techniques have been applied to identify genetic mutations leading to diseases. Accurate diagnosis of diseases is essential for appropriate treatment of patients, genetic counseling and prevention strategies. Characteristic features of patterns of inheritance are briefly reviewed and a short description of chromosomal disorders is also presented. In addition, applications of cytogenetic and molecular techniques and different types of mutations are discussed for genetic diagnosis of the pediatric genetic diseases. The purpose is to make pediatricians familiar with the applications of cytogenetic and molecular techniques and tools used for genetic diagnosis. PMID:24427490

  2. The severe perinatal form of autosomal recessive polycystic kidney disease maps to chromosome 6p21.1-p12: Implications for genetic counseling

    SciTech Connect

    Guay-Woodford, L.M.; Hopkins, S.D.; Waldo, F.B.; Muecher, G.; Zerres, K.; Avner, E.D.; Holleman, R.; Germino, G.G.; Guillot, A.P.; Herrin, J.

    1995-05-01

    Autosomal recessive polycystic kidney disease (ARPKD) is a one of the most common hereditary renal cystic diseases in children. Its clinical spectrum is widely variable with most cases presenting in infancy. Most affected neonates die within the first few hours of life. At present, prenatal diagnosis relies on fetal sonography, which is often imprecise in detecting even the severe form of the disease. Recently, in a cohort of families with mostly milder ARPKD phenotypes, an ARPKD locus was mapped to a 13-cM region of chromosome 6p21-cen. To determine whether severe perinatal ARPKD also maps to chromosome 6p, we have analyzed the segregation of seven microsatellite markers from the ARPKD interval in 22 families with the severe phenotype. In the majority of the affected infants, ARPKD was documented by hisopathology. Our data confirm linkage and refine the ARPKD region to a 3.8-cM interval, delimited by the markers D6S465/D6S427/D6S436/D6S272 and D6S466. Taken together, these results suggest that, despite the wide variability in clinical phenotypes, there is a single ARPKD gene. These linkage data and the absence of genetic heterogeneity in all families tested to date have important implications for DNA-based prenatal diagnoses as well as for the isolation of the ARPKD gene. 22 refs., 4 figs., 1 tab.

  3. Differences in the frequency and distribution of BRCA1 and BRCA2 mutations in breast/ovarian cancer cases from the Basque country with respect to the Spanish population: implications for genetic counselling.

    PubMed

    Beristain, E; Martínez-Bouzas, C; Guerra, I; Viguera, N; Moreno, J; Ibañez, E; Díez, J; Rodríguez, F; Mallabiabarrena, G; Luján, S; Gorostiaga, J; De Pablo, J L; Mendizabal, J L; Tejada, M I

    2007-12-01

    The prevalence of unique and recurrent BRCA1 and BRCA2 pathogenic mutations and unclassified variants varies among different populations. Two hundred and thirty-six breast and/or ovarian cancer patients were analysed to clarify the role of these genes in the Basque Country. We also studied 130 healthy women from the general population from the same region. Fifteen different pathological mutations were found in 16 index cases: 10 truncating mutations, 4 missense mutations and 1 splicing mutation. c.3002_3003insT and c.5788_5789delGT, both in exon 11 of BRCA2 have not previously been described. No pathological mutations were found in cases of sporadic juvenile breast cancer. There are no recurrent mutations in our population; apart from the mutation c.9254_9258del5, which appears in only two index cases. We have also found a lot of variants whose effect is unknown. From these variants, 17 have not previously been described: 6 missenses, 6 synonymous and 5 alterations in intronic regions. We would like to highlight the fact that 14.3% of patients with 3 or more cases of breast cancer in the family, and 16.7% of patients with family history of breast and ovarian cancer, present a pathological mutation in BRCA1 or BRCA2. This manuscript demonstrates that each population can have different mutations and due to this, Genetic Counselling and selection criteria must be different for each population. Furthermore, this article describes for the first time some new mutations and unclassified variants found in our population. PMID:17262179

  4. "Green" Counseling: Integrating Reused Household Materials into Creative Counseling Interventions

    ERIC Educational Resources Information Center

    Adamson, Nicole A.; Kress, Victoria E.

    2011-01-01

    The use of reused or recycled materials in counseling interventions provides counselors with an opportunity to use unique counseling mediums while simultaneously being socially and fiscally responsible. In this article, ways that reused or recycled items can be used in counseling are discussed. Practical suggestions for using reused or recycled…

  5. The Ghosts of Counseling Psychology: Is Counseling Research Really Dead?

    ERIC Educational Resources Information Center

    Murdock, Nancy L.

    2011-01-01

    Scheel et al. offer an interesting analysis on the publication rate of counseling-related research articles in counseling psychology's two major journals. In this reaction to their work, the author considers various aspects of their results and contemplates possible explanations for the decline of counseling-related publications. The author…

  6. "Good" Counseling; "Bad" Counseling: Who Can Tell the Difference?

    ERIC Educational Resources Information Center

    Yager, Geoffrey G.; And Others

    The seven studies reported in this paper represent successive attempts to explain the inability of observers to differentiate "good" counseling from "bad" counseling. Essentially, the researchers found that subjects, both undergraduate education majors and graduate counseling students, did not rate a videotaped counselor's performance as more…

  7. Introduction to the Major Contribution: Counseling Psychology and Online Counseling

    ERIC Educational Resources Information Center

    Mallen, Michael J.; Vogel, David L.

    2005-01-01

    This article introduces the Major Contribution, which focuses on online counseling. Several acronyms and terms are presented to familiarize the reader with distance-communication technology, including a definition of online counseling. The authors show how counseling psychology provides a framework for specific questions related to the theory,…

  8. Genetics of monoamine neurotransmitter disorders

    PubMed Central

    2015-01-01

    The monoamine neurotransmitter disorders are a heterogeneous group of inherited neurological disorders involving defects in the metabolism of dopamine, norepinephrine, epinephrine and serotonin. The inheritance of these disorders is mostly autosomal recessive. The neurological symptoms are primarily attributable to cerebral deficiency of dopamine, serotonin or both. The clinical presentations were highly variable and substantial overlaps exist. Evidently, laboratory investigations are crucial for accurate diagnosis. Measurement of neurotransmitter metabolites in cerebral spinal fluid (CSF) is the key to delineate the metabolic defects. Adjuvant investigations including plasma phenylalanine, urine pterins, urine 3-O-methyldopa (3-OMD) and serum prolactin are also helpful to establish the diagnosis. Genetic analyses are pivotally important to confirm the diagnosis which allows specific treatments, proper genetic counselling, prognosis prediction, assessment of recurrent risk in the family as well as prenatal diagnosis. Early diagnosis with appropriate treatment is associated with remarkable response and favourable clinical outcome in several disorders in this group. PMID:26835371

  9. Genetics of monoamine neurotransmitter disorders.

    PubMed

    Siu, Wai-Kwan

    2015-04-01

    The monoamine neurotransmitter disorders are a heterogeneous group of inherited neurological disorders involving defects in the metabolism of dopamine, norepinephrine, epinephrine and serotonin. The inheritance of these disorders is mostly autosomal recessive. The neurological symptoms are primarily attributable to cerebral deficiency of dopamine, serotonin or both. The clinical presentations were highly variable and substantial overlaps exist. Evidently, laboratory investigations are crucial for accurate diagnosis. Measurement of neurotransmitter metabolites in cerebral spinal fluid (CSF) is the key to delineate the metabolic defects. Adjuvant investigations including plasma phenylalanine, urine pterins, urine 3-O-methyldopa (3-OMD) and serum prolactin are also helpful to establish the diagnosis. Genetic analyses are pivotally important to confirm the diagnosis which allows specific treatments, proper genetic counselling, prognosis prediction, assessment of recurrent risk in the family as well as prenatal diagnosis. Early diagnosis with appropriate treatment is associated with remarkable response and favourable clinical outcome in several disorders in this group. PMID:26835371

  10. Some Approaches for Counseling Students

    ERIC Educational Resources Information Center

    Craig, David G.

    1970-01-01

    Suggests teachers use following steps in counseling students: preparation, introduction, problem definition, solution identification, information gathering, decision making, and follow-up. Discusses role of teacher in directive and non-directive counseling. (DM)

  11. Humor in Counseling: Leader Perspectives

    ERIC Educational Resources Information Center

    Goldin, Eugene; Bordan, Terry; Araoz, Daniel L.; Gladding, Samuel T.; Kaplan, David; Krumboltz, John; Lazarus, Arnold

    2006-01-01

    This article explores the existence of humor in counseling from the perspectives of several leaders in the field. Specifically, the last 5 authors describe some of their thoughts and experiences regarding the emergence of humor in counseling.

  12. Abraham Maslow's Legacy for Counseling.

    ERIC Educational Resources Information Center

    Hoffman, Edward

    1990-01-01

    Reviews the life of Abraham Maslow, a key founder of the humanistic approach to counseling, and his contributions to the counseling field. Maintains that Maslow's innovative work was often misinterpreted by both his admirers and his critics, yet remains highly relevant to current concerns in counseling. (Author/PVV)

  13. Contemporary Counseling: Services, Applications, Issues.

    ERIC Educational Resources Information Center

    Humes, Charles W.

    This book was written to serve as a basic text in courses that overview the use of counseling services and to serve as a useful reference for counseling practitioners. It is designed to stress counseling services in different settings (social agencies, mental health centers, schools, business/industry, correctional institutions, and private…

  14. Alabama Counseling Association Journal, 1996.

    ERIC Educational Resources Information Center

    Farrell, R. Joel, II, Ed.

    1996-01-01

    This document consists of the two issues of the "Alabama Counseling Association Journal" published during 1996. The focus of the journal is on communicating ideas and information that will help counselors to implement the counseling role and develop the profession of counseling. Issue number 1 includes the following articles: "Commitment through…

  15. Group Counselling for Problem Gambling.

    ERIC Educational Resources Information Center

    Coman, Gregory J.; Evans, Barry J.; Burrows, Graham D.

    2002-01-01

    Group counseling has been used to assist individuals to overcome difficulties associated with problem gambling behavior; however, there are few reports of this application in the clinical and research literature. This paper provides a brief review of group counseling, and describes the application of group counseling to assist individuals with…

  16. Do Counseling and Marketing Mix?

    ERIC Educational Resources Information Center

    Fong-Beyette, Margaret L.

    1988-01-01

    Responds to Wittman's previous article on counseling and marketing by discussing concerns about two of Wittman's purposes for use of marketing: improved services in consumers and economic survival of counseling profession. Agrees that counseling profession needs to understand basic marketing principles used by business and health care industry;…

  17. Clinical Application of Antenatal Genetic Diagnosis of Osteogenesis Imperfecta Type IV

    PubMed Central

    Yuan, Jing; Li, Song; Xu, YeYe; Cong, Lin

    2015-01-01

    Background Clinical analysis and genetic testing of a family with osteogenesis imperfecta type IV were conducted, aiming to discuss antenatal genetic diagnosis of osteogenesis imperfecta type IV. Material/Methods Preliminary genotyping was performed based on clinical characteristics of the family members and then high-throughput sequencing was applied to rapidly and accurately detect the changes in candidate genes. Results Genetic testing of the III5 fetus and other family members revealed missense mutation in c.2746G>A, pGly916Arg in COL1A2 gene coding region and missense and synonymous mutation in COL1A1 gene coding region. Conclusions Application of antenatal genetic diagnosis provides fast and accurate genetic counseling and eugenics suggestions for patients with osteogenesis imperfecta type IV and their families. PMID:25835785

  18. Genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    The genus Capsicum represents one of several well characterized Solanaceous genera. A wealth of classical and molecular genetics research is available for the genus. Information gleaned from its cultivated relatives, tomato and potato, provide further insight for basic and applied studies. Early ...

  19. Genetics

    Technology Transfer Automated Retrieval System (TEKTRAN)

    Maintaining genetic variation in wild populations of Arctic organisms is fundamental to the long-term persistence of high latitude biodiversity. Variability is important because it provides options for species to respond to changing environmental conditions and novel challenges such as emerging path...

  20. Genetic disorders of neonatal respiratory function.

    PubMed

    Cole, F S; Hamvas, A; Nogee, L M

    2001-08-01

    Genetic risk for respiratory distress in infancy has been recognized with increasing frequency in neonatal intensive care units. Reports of family clusters of affected infants and of ethnic- and gender-based respiratory phenotypes point to the contribution of inheritance. Similarly, different outcomes among gestationally matched infants with comparable exposures to oxygen, mechanical ventilation, or nutritional deficiency also suggest a genetic risk for respiratory distress. Examples of inherited deficiency of surfactant protein B in both humans and genetically engineered murine lineages illustrate the importance of identifying markers of genetic risk. In contrast to developmental, inflammatory, or nutritional causes of respiratory distress that may resolve as infants mature, genetic causes result in both acute and chronic (and potentially irreversible) respiratory failure. The availability of clinically useful genetic markers of risk for respiratory distress in infancy will permit development of rational strategies for treatment of genetic lung disorders of infancy and more accurate counseling of families whose infants are at genetic risk for development of respiratory distress at birth or during early childhood. We review examples of genetic variations known to be associated with or cause respiratory distress in infancy. PMID:11477198

  1. Vocational Counseling Revisited

    ERIC Educational Resources Information Center

    O'Brien, Charles R.

    1976-01-01

    The author stresses the importance for counselors to articulate a viable and comprehensive approach to vocational counseling to both clients and the larger society. A re-thinking and re-stating of career education concepts can be a first step in applying vocational theory more constructively. (EA)

  2. Counselling for Occupational Development

    ERIC Educational Resources Information Center

    Nwamuo, P. A.; Ugonna, C. E.

    2015-01-01

    The aim of the study was to ascertain the general attitude which senior secondary school students display towards counselling for occupational development while determining gender difference in students' attitude towards occupational information. It is also aimed at discovering whether these students seek vocational guidance in their choice of…

  3. Counseling and Culture.

    ERIC Educational Resources Information Center

    Hurtado, Juan; And Others

    This booklet, developed for school counselors, explores basic considerations for effective counseling of Lau students, defined as those from distinct language and cultural backgrounds, whose home language is other than English and who are not performing conceptually and linguistically at a level equal to district standards. Following a brief…

  4. Buddhism and Counselling.

    ERIC Educational Resources Information Center

    de Silva, Padmal

    1993-01-01

    Discusses the relevance of the principles and practices of Buddhism to the field of counseling. As Buddhism espouses the notion of a productive and healthy life, it offers ways of dealing with problems and difficulties, and of improving psychological well-being. Cites examples of relevant Buddhist techniques and their application. (JPS)

  5. Assessing Campus Counseling Needs

    ERIC Educational Resources Information Center

    Harrar, William R.; Affsprung, Eric H.; Long, Jeffrey C.

    2010-01-01

    Campus mental health needs are in the spotlight. Whether the nature and severity of problems presenting in college counseling centers are increasing or not, it is important to provide appropriate services for the campus as a whole. By surveying the general campus population, a better basis for determining the needs of students can be established…

  6. The Courage To Counsel.

    ERIC Educational Resources Information Center

    Yager, Geoffrey G.; And Others

    Counseling is a professional field that requires as much or more courage than virtually any non-life-threatening occupation. In a fashion analogous to both the fire fighter or the police officer who is in direct physical danger, effective counselors must fortify themselves and prepare themselves as well as possible when they enter the unknown and…

  7. The Counseling & Guidance Curriculum.

    ERIC Educational Resources Information Center

    Ediger, Marlow

    Counseling and guidance services are vital in any school curriculum. Counselors may themselves be dealing with students of diverse abilities and handicaps. Counselors may have to work with students affected by drug addiction, fetal alcohol syndrome, homelessness, poverty, Acquired Immune Deficiency Syndrome (AIDS) and divorce. Students may present…

  8. Group Counseling: Health Related.

    ERIC Educational Resources Information Center

    McFadden, Johnnie

    1979-01-01

    Diabetes and sickle cell anemia (SCA) are two health-related characteristics that distinguish young people from their peers. This article outlines the problems of children with diabetes and SCA and presents the goals and format for group counseling of these populations and their parents. (Author/BEF)

  9. Multimodel Counseling: An Update.

    ERIC Educational Resources Information Center

    Keat, Donald B., II, Ed.

    1982-01-01

    Contains six articles focusing on current developments in multimodal counseling. Topics addressed include multimodal methods of interviewing children, helping children with anger, and enhancing self-concept. Describes utilizing helping books with children, and the multimodal effect of physical exercise. (RC)

  10. Counseling Skills for Teachers

    ERIC Educational Resources Information Center

    Kottler, Jeffrey A.; Kottler, Ellen

    2006-01-01

    By necessity, today's teachers do much more than deliver instruction. In the classroom, on the playground, or even in the parking lot, teachers are often called upon to respond quickly and appropriately to students' social and emotional needs, drawing from instinct more than anything else. In this second edition of "Counseling Skills for…

  11. Stress and stress counselling.

    PubMed Central

    Matheson, K. H.

    1990-01-01

    This is a report by the 1989 National Association of Clinical Tutors Wyeth Travelling Fellow to the United States of America. The stresses of postgraduate training and attempts to modify these are described, including stress counselling. The significance of stress and the relevance of the findings for postgraduate training in the United Kingdom are considered. PMID:2235808

  12. Performance Appraisal and Counseling

    ERIC Educational Resources Information Center

    Powers, M. L.

    1972-01-01

    Author, an Associate Professor of Industrial Management Engineering at the University of Oklahoma, has worked with both large and small companies and organizations in many kinds of business and industry. He discusses performance appraisal of employees, merit raises, counseling and interviewing techniques. (Editor/DR)

  13. First Cycle Counselling.

    ERIC Educational Resources Information Center

    Darska, Anna

    1981-01-01

    Investigations are described that were carried out by the Centre d'Information de Documentation et d'Orientation of the Rene Descartes University to find an answer to the counseling problems arising from student admission, through coursework, and upon leaving the university to start a career. (Author/MLW)

  14. The Counseling Primer.

    ERIC Educational Resources Information Center

    Austin, Leonard

    This volume seeks to answer the basic question "What does a counselor or therapist need to know in order to become a Licensed Professional Counselor?" Containing all the basic information that is taught in the counseling and therapy classes in major universities across the United States, this book places a special emphasis on those courses which…

  15. Advisory Counseling for Librarians.

    ERIC Educational Resources Information Center

    Penland, Patrick R.

    The papers in the first section of this publication develop an understanding of the background, purpose and functions of advisory counseling in libraries. The purpose of the papers in the second section is to delineate the interrelationships of information transfer and meaning transfer and to lay out a background where flexibility can be developed…

  16. Evaluation Software in Counseling.

    ERIC Educational Resources Information Center

    Sabella, Russell A.

    Counselors today are presented with a number of differing applications software. This article intends to advance the counselor's knowledge and considerations of the various aspects of application software. Included is a discussion of the software applications typically of help to counselors in (a) managing their work (computer managed counseling);…

  17. Developmental Science and Counseling

    ERIC Educational Resources Information Center

    Geidner, James M.

    2009-01-01

    Developmental counseling is a promising model integrating theory and practice. A. E. Ivey's (2000; A. E. Ivey & O. F. Goncalves, 1988) work is discussed as a template for proposing a more comprehensive developmental perspective. Where A. E. Ivey's model renders a case for cognition, the current article encompasses other developmental systems…

  18. Writing as Counseling.

    ERIC Educational Resources Information Center

    Brand, Alice G.

    1987-01-01

    Promotes writing as a counseling technique to enhance a child's psychological growth. Notes that writing enhances awareness by helping individuals organize their inner selves, contributing to personal integration and self-validation, and providing a cathartic emotional release. Describes current therapeutic writing practices and a therapeutic…

  19. Large-Scale Phenotyping of an Accurate Genetic Mouse Model of JNCL Identifies Novel Early Pathology Outside the Central Nervous System

    PubMed Central

    Staropoli, John F.; Haliw, Larissa; Biswas, Sunita; Garrett, Lillian; Hölter, Sabine M.; Becker, Lore; Skosyrski, Sergej; Da Silva-Buttkus, Patricia; Calzada-Wack, Julia; Neff, Frauke; Rathkolb, Birgit; Rozman, Jan; Schrewe, Anja; Adler, Thure; Puk, Oliver; Sun, Minxuan; Favor, Jack; Racz, Ildikó; Bekeredjian, Raffi; Busch, Dirk H.; Graw, Jochen; Klingenspor, Martin; Klopstock, Thomas; Wolf, Eckhard; Wurst, Wolfgang; Zimmer, Andreas; Lopez, Edith; Harati, Hayat; Hill, Eric; Krause, Daniela S.; Guide, Jolene; Dragileva, Ella; Gale, Evan; Wheeler, Vanessa C.; Boustany, Rose-Mary; Brown, Diane E.; Breton, Sylvie; Ruether, Klaus; Gailus-Durner, Valérie; Fuchs, Helmut; de Angelis, Martin Hrabě; Cotman, Susan L.

    2012-01-01

    Cln3Δex7/8 mice harbor the most common genetic defect causing juvenile neuronal ceroid lipofuscinosis (JNCL), an autosomal recessive disease involving seizures, visual, motor and cognitive decline, and premature death. Here, to more thoroughly investigate the manifestations of the common JNCL mutation, we performed a broad phenotyping study of Cln3Δex7/8 mice. Homozygous Cln3Δex7/8 mice, congenic on a C57BL/6N background, displayed subtle deficits in sensory and motor tasks at 10–14 weeks of age. Homozygous Cln3Δex7/8 mice also displayed electroretinographic changes reflecting cone function deficits past 5 months of age and a progressive decline of retinal post-receptoral function. Metabolic analysis revealed increases in rectal body temperature and minimum oxygen consumption in 12–13 week old homozygous Cln3Δex7/8mice, which were also seen to a lesser extent in heterozygous Cln3Δex7/8 mice. Heart weight was slightly increased at 20 weeks of age, but no significant differences were observed in cardiac function in young adults. In a comprehensive blood analysis at 15–16 weeks of age, serum ferritin concentrations, mean corpuscular volume of red blood cells (MCV), and reticulocyte counts were reproducibly increased in homozygous Cln3Δex7/8 mice, and male homozygotes had a relative T-cell deficiency, suggesting alterations in hematopoiesis. Finally, consistent with findings in JNCL patients, vacuolated peripheral blood lymphocytes were observed in homozygous Cln3Δex7/8 neonates, and to a greater extent in older animals. Early onset, severe vacuolation in clear cells of the epididymis of male homozygous Cln3Δex7/8 mice was also observed. These data highlight additional organ systems in which to study CLN3 function, and early phenotypes have been established in homozygous Cln3Δex7/8 mice that merit further study for JNCL biomarker development. PMID:22701626

  20. 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

  1. A Brighter Side of the New Genetics

    ERIC Educational Resources Information Center

    Glowienka, Emerine

    1975-01-01

    Discusses the positive side of genetic technology advances and the implications for human beings, both from a sociological viewpoint and the point of view of a social philosopher. Genetic engineering, technology and counseling are discussed. (BR)

  2. 38 CFR 21.7100 - Counseling.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.7100... Bill-Active Duty) Counseling § 21.7100 Counseling. A veteran or servicemember may receive counseling from VA before beginning training and during training. (a) Purpose. The purpose of counseling is (1)...

  3. 38 CFR 21.3102 - Required counseling.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Required counseling. 21.... Chapter 35 Counseling § 21.3102 Required counseling. (a) Child. The VA counseling psychologist will provide counseling and assist in preparing the educational plan only if the eligible child or his or...

  4. 46 CFR 201.31 - Public counsel.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 46 Shipping 8 2010-10-01 2010-10-01 false Public counsel. 201.31 Section 201.31 Shipping MARITIME... Parties (Rule 3) § 201.31 Public counsel. The Assistant General Counsel, Chief, Division of Operating.... The Assistant General Counsel and his representatives shall be designated as Public Counsel and...

  5. 38 CFR 21.3102 - Required counseling.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    .... Chapter 35 Counseling § 21.3102 Required counseling. (a) Child. The VA counseling psychologist will provide counseling and assist in preparing the educational plan only if the eligible child or his or her parent or guardian requests assistance, except that counseling is required for an eligible child if—...

  6. 38 CFR 21.3102 - Required counseling.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    .... Chapter 35 Counseling § 21.3102 Required counseling. (a) Child. The VA counseling psychologist will provide counseling and assist in preparing the educational plan only if the eligible child or his or her parent or guardian requests assistance, except that counseling is required for an eligible child if—...

  7. 38 CFR 21.3102 - Required counseling.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    .... Chapter 35 Counseling § 21.3102 Required counseling. (a) Child. The VA counseling psychologist will provide counseling and assist in preparing the educational plan only if the eligible child or his or her parent or guardian requests assistance, except that counseling is required for an eligible child if—...

  8. 38 CFR 21.3102 - Required counseling.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    .... Chapter 35 Counseling § 21.3102 Required counseling. (a) Child. The VA counseling psychologist will provide counseling and assist in preparing the educational plan only if the eligible child or his or her parent or guardian requests assistance, except that counseling is required for an eligible child if—...

  9. Clinical Assessment of Dissociative Identity Disorder among College Counseling Clients

    ERIC Educational Resources Information Center

    Levy, Benjamin; Swanson, Janine E.

    2008-01-01

    College counseling professionals address a wide range of complex student mental health concerns. Among these, accurately identifying client presentations of dissociative identity disorder (DID) can be especially challenging because students with DID sometimes present as if they are experiencing another problem, such as a mood, anxiety, or…

  10. Best Practices for Missing Data Management in Counseling Psychology

    ERIC Educational Resources Information Center

    Schlomer, Gabriel L.; Bauman, Sheri; Card, Noel A.

    2010-01-01

    This article urges counseling psychology researchers to recognize and report how missing data are handled, because consumers of research cannot accurately interpret findings without knowing the amount and pattern of missing data or the strategies that were used to handle those data. Patterns of missing data are reviewed, and some of the common…

  11. A Case of Diprosopus: Perinatal Counseling and Management

    PubMed Central

    Thornton, Kimberly M.; Bennett, Timothy; Singh, Vivekanand; Mardis, Neil; Linebarger, Jennifer; Kilbride, Howard; Voos, Kristin

    2014-01-01

    Diprosopus is a rare congenital malformation associated with high mortality. Here, we describe a patient with diprosopus, multiple life-threatening anomalies, and genetic mutations. Prenatal diagnosis and counseling made a beneficial impact on the family and medical providers in the care of this case. PMID:25254133

  12. HCV counselling in haemophilia care.

    PubMed

    Miller, R; Telfer, P

    1996-01-01

    The many areas of uncertainty about HCV make counselling patients with haemophilia and HCV a challenge. In this review a brief summary is made of the current understanding of the natural history of hepatitis C infection, the modes of transmission, diagnostic techniques, and treatment options available. This forms a necessary background to counselling patients and their contacts. Some difficulties are highlighted and counselling guidelines about the disease with patients are suggested. PMID:27213897

  13. 34 CFR 106.36 - Counseling and use of appraisal and counseling materials.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 34 Education 1 2010-07-01 2010-07-01 false Counseling and use of appraisal and counseling... Programs or Activities Prohibited § 106.36 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of sex in the counseling...

  14. 45 CFR 2555.425 - Counseling and use of appraisal and counseling materials.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 45 Public Welfare 4 2010-10-01 2010-10-01 false Counseling and use of appraisal and counseling... Activities Prohibited § 2555.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of sex in the counseling or guidance...

  15. 32 CFR 196.425 - Counseling and use of appraisal and counseling materials.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 32 National Defense 2 2010-07-01 2010-07-01 false Counseling and use of appraisal and counseling... Programs or Activities Prohibited § 196.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of sex in the counseling...

  16. Counseling Couples in Groups: Rationale and Methodology

    ERIC Educational Resources Information Center

    Kilgo, Reese Danley

    1975-01-01

    Marriage counseling of couples in groups is based upon principles and techniques of both group counseling and marriage counseling, and in rationale and methodology combines the two. It can be a useful and constructive form of marital therapy. (Author)

  17. Counseling in Turkey: An Evolving Field

    ERIC Educational Resources Information Center

    Stockton, Rex; Guneri, Oya Yerin

    2011-01-01

    This article provides a brief history of counseling and addresses the current issues and future trends of counseling in Turkey. Special emphasis is placed on the factors that impede the development of school counseling as a discipline.

  18. Exploration of Support Behavior in Counseling Groups with Counseling Trainees

    ERIC Educational Resources Information Center

    Harel, Yoni; Shechtman, Zipora; Cutrona, Carolyn

    2012-01-01

    The study explores the types of support expressed in counseling groups attended by trainee counselors. Support is a crucial factor in human life in general, and in groups in particular, yet little is known about the type of support presented in counseling groups. Type of support was categorized by means of the Social Support Behavior Code (SSBC;…

  19. Addiction Counseling Accreditation: CACREP's Role in Solidifying the Counseling Profession

    ERIC Educational Resources Information Center

    Hagedorn, W. Bryce; Culbreth, Jack R.; Cashwell, Craig S.

    2012-01-01

    In this article, the authors discuss the Council for Accreditation of Counseling and Related Educational Programs' (CACREP) role in furthering the specialty of addiction counseling. After sharing a brief history and the role of counselor certification and licensure, the authors share the process whereby CACREP developed the first set of…

  20. Intraoperative virtual brain counseling

    NASA Astrophysics Data System (ADS)

    Jiang, Zhaowei; Grosky, William I.; Zamorano, Lucia J.; Muzik, Otto; Diaz, Fernando

    1997-06-01

    Our objective is to offer online real-tim e intelligent guidance to the neurosurgeon. Different from traditional image-guidance technologies that offer intra-operative visualization of medical images or atlas images, virtual brain counseling goes one step further. It can distinguish related brain structures and provide information about them intra-operatively. Virtual brain counseling is the foundation for surgical planing optimization and on-line surgical reference. It can provide a warning system that alerts the neurosurgeon if the chosen trajectory will pass through eloquent brain areas. In order to fulfill this objective, tracking techniques are involved for intra- operativity. Most importantly, a 3D virtual brian environment, different from traditional 3D digitized atlases, is an object-oriented model of the brain that stores information about different brain structures together with their elated information. An object-oriented hierarchical hyper-voxel space (HHVS) is introduced to integrate anatomical and functional structures. Spatial queries based on position of interest, line segment of interest, and volume of interest are introduced in this paper. The virtual brain environment is integrated with existing surgical pre-planning and intra-operative tracking systems to provide information for planning optimization and on-line surgical guidance. The neurosurgeon is alerted automatically if the planned treatment affects any critical structures. Architectures such as HHVS and algorithms, such as spatial querying, normalizing, and warping are presented in the paper. A prototype has shown that the virtual brain is intuitive in its hierarchical 3D appearance. It also showed that HHVS, as the key structure for virtual brain counseling, efficiently integrates multi-scale brain structures based on their spatial relationships.This is a promising development for optimization of treatment plans and online surgical intelligent guidance.

  1. Genetics Home Reference: Aicardi syndrome

    MedlinePlus

    ... leading to progressive abnormal curvature of the spine ( scoliosis ). They often have gastrointestinal problems such as constipation ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  2. Genetics Home Reference: centronuclear myopathy

    MedlinePlus

    ... abnormal side-to-side curvature of the spine ( scoliosis ). Rarely, individuals with centronuclear myopathy have a weakened ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  3. Genetics Home Reference: cleidocranial dysplasia

    MedlinePlus

    ... knees; and an abnormal curvature of the spine ( scoliosis ). Characteristic facial features may include a wide, short ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  4. Adolescent sexual counseling.

    PubMed

    Shen, J T

    1982-05-01

    The physician provides a much-needed service to teenagers by counseling them regarding sexuality. A series of conferences during adolescence and use of questionnaires can facilitate discussion and point up potential problems. When the patient is confronted with a problem such as a need for contraception or an unwanted pregnancy, the physician should present all the options available and leave the final choice up to the patient. The physician is not obligated to participate in a solution that is counter to his or her moral values. PMID:7071042

  5. Pregnancy testing and counseling.

    PubMed

    Stephenson, J N

    1989-06-01

    Pregnancy testing and counseling are increasingly accepted as necessary services for adolescents within the primary care setting. For teenagers in need of a pregnancy test, the easy-to-perform, highly sensitive and specific enzyme immunoassay analysis for measuring beta-human chorionic gonadotropin (beta-HCG) is ideal. However, no single beta-HCG analysis should be taken as absolute evidence for the presence or absence of pregnancy. Instead, an integrated approach using all of the health care professional's skills in adolescent health care should be taken. In some cases a careful history and physical examination will confirm the pregnancy. At other times serial quantitative serum HCG titers, pelvic ultrasonography, and culdocentesis may be necessary to rule out the possibility of ectopic pregnancy or threatened abortion. For more than three quarters of pregnant adolescents the pregnancy is unplanned and may represent a major conflict for themselves, their partner, and their families. When such an event occurs the health care professional will frequently be sought as a resource. Successful pregnancy counseling has many components. The adolescent will need to visualize the counselor as an available, sensitive, nonjudgmental individual who believes in the right of the pregnant teenager ultimately to progress to her own decision. The counseling process should be firmly based on an understanding of adolescent psychosocial and biologic development, crises intervention techniques, and family dynamics. The counselor needs to be a reliable information source. If the adolescent decides to go to term, programs offering comprehensive prenatal services to teenagers should be identified. Information concerning high-quality, low-cost abortion services also will need to be available for those who wish to terminate. It is important to monitor the quality of care given in prenatal and abortion service referrals. Few adolescents currently choose to place their babies for adoption

  6. Persuasion in the Counseling Process.

    ERIC Educational Resources Information Center

    Hunt, David J.; And Others

    Of all the methods and techniques arising from research in human communication that are subsequently used in counseling, the one most seldom mentioned in counseling literature is that of persuasion. The word persuasion is often wrongly used as a synonym for manipulation, an activity counselors are trained to avoid in working with clients. Verbal…

  7. Qualitative Research in Rehabilitation Counseling

    ERIC Educational Resources Information Center

    Hanley-Maxwell, Cheryl; Al Hano, Ibrahim; Skivington, Michael

    2007-01-01

    Qualitative research approaches offer rehabilitation scholars and practitioners avenues into understanding the lives and experiences of people with disabilities and those people and systems with whom they interact. The methods used often parallel those used in counseling and appear to be well matched with the field of rehabilitation counseling.…

  8. Effectiveness of Group Counseling Procedures.

    ERIC Educational Resources Information Center

    Gaetz, E. L.

    This paper includes both an evaluation of group counseling and a manual for training persons in group counseling. Thirty-five full-time graduate trained counselors were given 30 intensive hours of training in interpersonal skills and group work over a five-week period. In addition to this, all trainees operated a student group in conjunction with…

  9. Ethical Considerations for Internet Counseling.

    ERIC Educational Resources Information Center

    Attridge, William C.

    With the advent of new technologies, the possibility for providing quality, Internet-based, therapeutic counseling services becomes more attainable and realistic every year. Since the National Board for Certified Counselors announced the adoption of voluntary standards for the practice of Internet-based counseling, a new dimension has been added…

  10. A Counseling Plan for Randall.

    ERIC Educational Resources Information Center

    Levinson, Edward M.

    1993-01-01

    Responds to case of head-injured former engineering college student who presented for career counseling following automobile accident, three months in coma, and four years of rehabilitation therapy. Discusses issues underlying provision of career counseling to individuals with brain injuries. Cites information needed for planning, explores major…

  11. Does Counseling Need the Mind?

    ERIC Educational Resources Information Center

    Kernes, Jerry L.

    2008-01-01

    In this article, the author argues that the language used in counseling practice is largely a common sense language using mentalistic words. Basic mentalistic assumptions and challenges to those assumptions are outlined. The practical consequences of retaining or discarding mentalism in counseling are discussed. The author concludes that…

  12. Alabama Counseling Association Journal, 1995.

    ERIC Educational Resources Information Center

    Abbott, Gypsy, Ed.; Elliott, Glenda R., Ed.

    1995-01-01

    Communicating ideas and information that will help counselors to implement the counseling role and develop the profession of counseling is the purpose of this journal. The first issue in volume 21 contains the following articles: "Policies and Procedures for Reporting Child Abuse in Alabama: Considerations for Counselors, Teachers, and School…

  13. School Counseling Outcomes and Research.

    ERIC Educational Resources Information Center

    Perry, Nancy S.

    The comprehensive, developmental model of school counseling has gained much favor across the nation among educators. It is now time to assess its effectiveness. Counseling has had difficulty achieving the precision attainable in research in the physical sciences. Because of the intangible nature of many of the variables present in the counseling…

  14. Accepters and Rejecters of Counseling.

    ERIC Educational Resources Information Center

    Rose, Harriett A.; Elton, Charles F.

    Personality differences between students who accept or reject proffered counseling assistance were investigated by comparing personality traits of 116 male students at the University of Kentucky who accepted or rejected letters of invitation to group counseling. Factor analysis of Omnibus Personality Inventory (OPI) scores to two groups of 60 and…

  15. Counseling the Chronic Pain Patient.

    ERIC Educational Resources Information Center

    Weiner, Richard S.

    1981-01-01

    Discusses the provision of counseling services for chronic pain patients within comprehensive, multifaceted treatment program. Describes the counseling process, including orientation, evaluation, and clarification of client concerns. Cites the use of coping techniques such as relaxation training, biofeedback training, and pain coping skills. (RC)

  16. The Paradigms of Counseling Psychology.

    ERIC Educational Resources Information Center

    Whiteley, John M.

    1999-01-01

    Discusses the evolution of counseling psychology's theoretical models and their subsequent treatment by "The Counseling Psychologist" (TCP) in its early years through 1984. After outlining the founding of the journal, the author traces the history of the TCP and its relationship to the historical periods of the profession's development. (GCP)

  17. Counseling Psychology in New Zealand.

    ERIC Educational Resources Information Center

    Manthei, Bob

    The history of counseling psychology in Australia, which has been marked by confusion and uncertainty about the distinction between it and other applied areas such as clinical psychology, community psychology, educational psychology, and psychotherapy, is discussed in this paper. The development of the Division of Counselling Psychology within the…

  18. School Counseling: New Perspectives & Practices.

    ERIC Educational Resources Information Center

    Allen, Jackie M., Ed.

    School counselors need new ideas to initiate change in school counseling programs. This book presents a collection of innovative paradigms and approaches. Part 1 presents articles on techniques and methods of counseling interventions: (1) Student Rights (C. C. Hogan); (2) At-Risk Students and Violence (L. Giusti); (3) Conflict Management (D. R.…

  19. Client Motivation and Multicultural Counseling

    ERIC Educational Resources Information Center

    Kim, Bryan S. K.

    2011-01-01

    This reaction article comments on the major contribution titled "Motivation and Autonomy in Counseling, Psychotherapy, and Behavior Change: A Look at Theory and Practice." It first points out the article's strengths, the primary of which was to move the construct of motivation to the center of focus in the discussion of counseling. In addition,…

  20. Group Counseling for Navy Children.

    ERIC Educational Resources Information Center

    Mitchum, Nancy Taylor

    1991-01-01

    Conducted six-session group counseling program for Navy children (n=22) enrolled in public schools whose fathers were on deployment. Pretest and posttest scores on the Coopersmith Self-Esteem Inventory suggest that participation in the group counseling unit positively affected self-esteem of Navy children whose fathers were on deployment. Found…

  1. New Developments in Group Counseling.

    ERIC Educational Resources Information Center

    Gladding, Samuel T., Ed.

    Group counseling is a rapidly changing field. This collection of 31 digests examines various aspects of group process and group counseling. The digests are arranged under different subject headings. In section 1, the nature of group work is examined, along with the evolution of group work training since 1990. The second section looks at…

  2. Cultural Accommodation Model of Counseling

    ERIC Educational Resources Information Center

    Leong, Frederick T. L.

    2011-01-01

    The current article provides an overview to the cultural accommodation model (CAM) of counseling (Leong & Lee, 2006) that may help guide employment counselors' work. The integrative multidimensional model of cross-cultural counseling (Leong, 1996), a precursor to the CAM, is also reviewed.

  3. Group Counseling with Navy Prisoners.

    ERIC Educational Resources Information Center

    Biasco, Frank; Redfering, David

    1980-01-01

    The effects of a short-term group counseling with confinees in a U.S. Navy correctional facility were determined. After 10 weeks of counseling the treatment group held significantly more positive views toward "Persons in Authority" than did the control group. (Author)

  4. Counseling Chaos: Techniques for Practitioners

    ERIC Educational Resources Information Center

    Pryor, Robert G. L.; Bright, Jim E. H.

    2006-01-01

    The chaos theory of careers draws together a number of themes in current theory and research. This article applies some of these themes to career counseling. The chaos theory of careers is outlined, and a conceptual framework for understanding assessment and counseling issues that focuses on convergent and emergent qualities is presented. Three…

  5. Counseling Japanese Men on Fathering

    ERIC Educational Resources Information Center

    Seto, Atsuko; Becker, Kent W.; Akutsu, Motoko

    2006-01-01

    The authors review an article (J. Yamamoto & F. Tagami, 2004) published in the "Japanese Journal of Counseling Science" that described changes in contemporary Japanese family structures and illustrated a therapy process with a father to enhance the father-son relationship. Implications for the counseling profession in working with men on…

  6. Counseling Needs of Older Persons.

    ERIC Educational Resources Information Center

    Myers, Jane E.

    The Older Person's Counseling Needs (OPCN) Survey is used as an instrument to assess counseling needs of older persons in relation to their major life concerns. Four key areas of concern have been identified. These include personal, interpersonal, activity, and environmental concerns. These four areas have been subdivided to achieve 27 basic…

  7. Physical Attractiveness and Counseling Skills.

    ERIC Educational Resources Information Center

    Vargas, Alice M.; Borkowski, John G.

    1982-01-01

    Searched for interaction between quality of counseling skills (presence or absence of empathy, genuineness, and positive regard) and physical attractiveness as determinants of counseling effectiveness. Attractiveness influenced perceived effectiveness of counselor's skill. Analyses of expectancy data revealed that only with good skills did…

  8. Values in Counseling and Psychotherapy.

    ERIC Educational Resources Information Center

    Patterson, C. H.

    1989-01-01

    Considers various ways that values enter into counseling or psychotherapy, with particular attention to goals of the process and methods or procedures by which counselor or therapist implements process. Suggests approach to counseling and psychotherapy that recognizes and incorporates values basic to democratic philosophy and the goal of…

  9. School Counseling in China Today

    ERIC Educational Resources Information Center

    Thomason, Timothy C.; Qiong, Xiao

    2008-01-01

    This article provides a brief overview of the development of psychological thinking in China and social influences on the practice of school counseling today. Common problems of students are described, including anxiety due to pressure to perform well on exams, loneliness and social discomfort, and video game addiction. Counseling approaches used…

  10. Exercise as a Counseling Intervention.

    ERIC Educational Resources Information Center

    Okonski, Verna O.

    2003-01-01

    The focus of wellness counseling is to guide individuals to live a healthy life in which body, mind, and spirit are integrated in order to experience fulfillment and happiness. The purpose of this article is to provide counselors steps to follow when using exercise as a counseling intervention and to provide techniques that will encourage exercise…

  11. Programmed versus Face-to-Face Counseling

    ERIC Educational Resources Information Center

    Gilbert, William M.; Ewing, Thomas N.

    1971-01-01

    A comparison was made of the effectiveness of a programmed Self-Counseling Manual and a normal precollege counseling interview by experienced counselors. Findings supported the use of programmed counseling as an adjunct to or substitute for face-to-face counseling. (Author)

  12. The Impact of Creativity in Counseling

    ERIC Educational Resources Information Center

    Gladding, Samuel T.

    2008-01-01

    Creativity is a crucial component in the advancement of all major cultural entities, including effective counseling. It is through creativity that major theories of counseling and skills in counseling have been developed. Creativity is longitudinal in its impact. If counseling is to progress in the future, it is essential that counselors be…

  13. Online Counseling: New Entity, New Challenges

    ERIC Educational Resources Information Center

    Barnett, Jeffrey E.

    2005-01-01

    Mallen, Vogel, and colleagues explore the developing field of online counseling from the unique perspective of counseling psychology. They examine the body of available research and relevant clinical, ethical, legal, and practical issues and make recommendations for counseling psychologists who desire to participate in online counseling. This…

  14. 38 CFR 21.7600 - Counseling.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.7600...) VOCATIONAL REHABILITATION AND EDUCATION Educational Assistance for Members of the Selected Reserve Counseling § 21.7600 Counseling. A reservist may receive counseling from VA before beginning training and...

  15. 38 CFR 21.8100 - Counseling.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.8100... Vietnam Veterans-Spina Bifida and Covered Birth Defects Counseling § 21.8100 Counseling. An eligible child requesting or receiving services and assistance under this subpart will receive professional counseling by...

  16. 38 CFR 21.100 - Counseling.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.100... Counseling § 21.100 Counseling. (a) General. A veteran requesting or being furnished assistance under Chapter 31 shall be provided professional counseling services by Vocational Rehabilitation and Employment...

  17. 38 CFR 21.9580 - Counseling.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.9580...) VOCATIONAL REHABILITATION AND EDUCATION Post-9/11 GI Bill Counseling § 21.9580 Counseling. An individual may receive counseling from VA before beginning training and during training. VA will apply the provisions...

  18. 38 CFR 21.6100 - Counseling.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling. 21.6100... Recipients Counseling § 21.6100 Counseling. General. A veteran requesting or being furnished assistance under this temporary program shall be provided professional counseling services by the...

  19. 8 CFR 1240.2 - Service counsel.

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... 8 Aliens and Nationality 1 2011-01-01 2011-01-01 false Service counsel. 1240.2 Section 1240.2... Service counsel. (a) Authority. Service counsel shall present on behalf of the government evidence... disposition by the immigration judge. The duties of the Service counsel include, but are not limited to,...

  20. A Comparison of Approaches to Group Counseling.

    ERIC Educational Resources Information Center

    Zimpfer, David G.; And Others

    This panel is based on the assumptions that: (1) group counseling has a valuable contribution to make, (2) group counseling is feasible in terms of time and space at local institutions, (3) group counseling is particularly concerned with affective material, and (4) group counseling probably cannot be conducted effectively in groups as large as 30.…

  1. Courtland Lee: A Global Advocate for Counseling

    ERIC Educational Resources Information Center

    Gladding, Samuel T.

    2011-01-01

    Courtland Lee is exemplary in his accomplishments nationally and internationally. His academic achievements are notable in multicultural counseling and social justice. His leadership in counseling has been outstanding with his having served as president of the American Counseling Association, the Association for Multicultural Counseling and…

  2. 38 CFR 21.9580 - Counseling.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 2 2012-07-01 2012-07-01 false Counseling. 21.9580 Section 21.9580 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS (CONTINUED) VOCATIONAL REHABILITATION AND EDUCATION Post-9/11 GI Bill Counseling § 21.9580 Counseling. An individual may receive counseling from VA before...

  3. Cross-Cultural Counseling: A Multivariate Analysis

    ERIC Educational Resources Information Center

    Ridley, Charles R.

    1978-01-01

    The complexity of the cross-cultural counseling and psychotherapy encounter is examined, with particular reference to four prominent variables: (1) views of mental health; (2) goals of counseling; (3) roles of counseling participants; and (4) counseling strategies. (Author/MJB)

  4. 37 CFR 41.108 - Lead counsel.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 37 Patents, Trademarks, and Copyrights 1 2014-07-01 2014-07-01 false Lead counsel. 41.108 Section... COMMERCE PRACTICE BEFORE THE PATENT TRIAL AND APPEAL BOARD Contested Cases § 41.108 Lead counsel. (a) A party may be represented by counsel. The Board may require a party to appoint a lead counsel. If...

  5. 37 CFR 41.108 - Lead counsel.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 37 Patents, Trademarks, and Copyrights 1 2013-07-01 2013-07-01 false Lead counsel. 41.108 Section... COMMERCE PRACTICE BEFORE THE PATENT TRIAL AND APPEAL BOARD Contested Cases § 41.108 Lead counsel. (a) A party may be represented by counsel. The Board may require a party to appoint a lead counsel. If...

  6. 13 CFR 113.425 - Counseling and use of appraisal and counseling materials.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 13 Business Credit and Assistance 1 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling materials. 113.425 Section 113.425 Business Credit and Assistance SMALL BUSINESS... Activities Prohibited § 113.425 Counseling and use of appraisal and counseling materials. (a) Counseling....

  7. 22 CFR 146.425 - Counseling and use of appraisal and counseling materials.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 22 Foreign Relations 1 2010-04-01 2010-04-01 false Counseling and use of appraisal and counseling... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 146.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person...

  8. 6 CFR 17.425 - Counseling and use of appraisal and counseling materials.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 6 Domestic Security 1 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 17.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person...

  9. 14 CFR 1253.425 - Counseling and use of appraisal and counseling materials.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 14 Aeronautics and Space 5 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling materials. 1253.425 Section 1253.425 Aeronautics and Space NATIONAL AERONAUTICS AND SPACE... § 1253.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient...

  10. 24 CFR 3.425 - Counseling and use of appraisal and counseling materials.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 24 Housing and Urban Development 1 2010-04-01 2010-04-01 false Counseling and use of appraisal and counseling materials. 3.425 Section 3.425 Housing and Urban Development Office of the Secretary, Department... Activities Prohibited § 3.425 Counseling and use of appraisal and counseling materials. (a) Counseling....

  11. 18 CFR 1317.425 - Counseling and use of appraisal and counseling materials.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 18 Conservation of Power and Water Resources 2 2010-04-01 2010-04-01 false Counseling and use of appraisal and counseling materials. 1317.425 Section 1317.425 Conservation of Power and Water Resources... Activities Prohibited § 1317.425 Counseling and use of appraisal and counseling materials. (a) Counseling....

  12. 31 CFR 28.425 - Counseling and use of appraisal and counseling materials.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 31 Money and Finance: Treasury 1 2010-07-01 2010-07-01 false Counseling and use of appraisal and counseling materials. 28.425 Section 28.425 Money and Finance: Treasury Office of the Secretary of the....425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall...

  13. 10 CFR 1042.425 - Counseling and use of appraisal and counseling materials.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 10 Energy 4 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling materials... on the Basis of Sex in Education Programs or Activities Prohibited § 1042.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person...

  14. 38 CFR 23.425 - Counseling and use of appraisal and counseling materials.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 2 2010-07-01 2010-07-01 false Counseling and use of appraisal and counseling materials. 23.425 Section 23.425 Pensions, Bonuses, and Veterans' Relief DEPARTMENT... Activities Prohibited § 23.425 Counseling and use of appraisal and counseling materials. (a) Counseling....

  15. 49 CFR 25.425 - Counseling and use of appraisal and counseling materials.

    Code of Federal Regulations, 2010 CFR

    2010-10-01

    ... 49 Transportation 1 2010-10-01 2010-10-01 false Counseling and use of appraisal and counseling... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 25.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person...

  16. 22 CFR 229.425 - Counseling and use of appraisal and counseling materials.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 22 Foreign Relations 1 2010-04-01 2010-04-01 false Counseling and use of appraisal and counseling... Discrimination on the Basis of Sex in Education Programs or Activities Prohibited § 229.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person...

  17. 7 CFR 15a.36 - Counseling and use of appraisal and counseling materials.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 7 Agriculture 1 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling... Education Programs and Activities Prohibited § 15a.36 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of sex in...

  18. 10 CFR 5.425 - Counseling and use of appraisal and counseling materials.

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... 10 Energy 1 2010-01-01 2010-01-01 false Counseling and use of appraisal and counseling materials... in Education Programs or Activities Prohibited § 5.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis of sex in...

  19. 29 CFR 36.425 - Counseling and use of appraisal and counseling materials.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 29 Labor 1 2010-07-01 2010-07-01 true Counseling and use of appraisal and counseling materials. 36... in Education Programs or Activities Prohibited § 36.425 Counseling and use of appraisal and counseling materials. (a) Counseling. A recipient shall not discriminate against any person on the basis...

  20. Challenges of Pre- and Post-Test Counseling for Orthodox Jewish Individuals in the Premarital Phase.

    PubMed

    Rose, E; Schreiber-Agus, N; Bajaj, K; Klugman, S; Goldwaser, T

    2016-02-01

    The Jewish community has traditionally taken ownership of its health, and has taken great strides to raise awareness about genetic issues that affect the community, such as Tay-Sachs disease and Hereditary Breast and Ovarian Cancer syndrome. Thanks in part to these heightened awareness efforts, many Orthodox Jewish individuals are now using genetics services as they begin to plan their families. Due to unique cultural and religious beliefs and perceptions, the Orthodox Jewish patients who seek genetic counseling face many barriers to a successful counseling session, and often seek the guidance of programs such as the Program for Jewish Genetic Health (PJGH). In this article, we present clinical vignettes from the PJGH's clinical affiliate, the Reproductive Genetics practice at the Montefiore Medical Center. These cases highlight unique features of contemporary premarital counseling and screening within the Orthodox Jewish Community, including concerns surrounding stigma, disclosure, "marriageability," the use of reproductive technologies, and the desire to include a third party in decision making. Our vignettes demonstrate the importance of culturally-sensitive counseling. We provide strategies and points to consider when addressing the challenges of pre- and post-test counseling as it relates to genetic testing in this population. PMID:26354339

  1. Prenatal counseling tools for the pediatric radiologist as part of a multidisciplinary team.

    PubMed

    Lawrence, Anne K; Menzel, Margaret B; Bulas, Dorothy I

    2016-02-01

    Fetal abnormalities are present in 3-5% of all pregnancies, leading to increased anxiety and the need for important discussions between patients and their care providers. Regardless of the severity of the anomaly, receiving the information can be traumatic for the pregnant patient and her partner. Most physicians who aren't trained to provide prenatal counseling understandably feel uncomfortable with the uncertainty and complex issues that arise in such high-stress counseling sessions. Genetic counselors are specifically trained to counsel patients in the setting of a fetal abnormality; however additional input from pediatric radiologists and other pediatric specialists is invaluable to parents in these situations and such input is an essential part of a team approach to prenatal counseling. The goal of this article is to provide a basic approach to counseling in the prenatal setting for pediatric radiologists and other specialists. PMID:26829948

  2. Cross-Cultural Counseling Concerns.

    ERIC Educational Resources Information Center

    Ahia, Chikezie Emmanuel

    1984-01-01

    Examines problems and concerns of cross cultural counseling and psychotherapy. Raises specific questions concerning research designs and approaches, differences in cosmology, epistemology, differences in nosology, and problems of evaluation or testing. (JAC)

  3. Family Group Counseling for Alcoholics

    ERIC Educational Resources Information Center

    kinsella, Samuel B.

    1970-01-01

    After personal involvement as a group leader with alcoholics under treatment and their families, the author stresses the need for this type of counseling to educate family on alcoholism and to help dispel their prejudices. (Author/CJ)

  4. Change in Child Multimodal Counseling.

    ERIC Educational Resources Information Center

    Keat, Donald B., II

    1990-01-01

    Examines some of the effective ingredients of change in multimodal counseling with children: personal relationships; emotions; guidance of actions, behaviors, and consequences; imagery; health; learning; and need to know. (ABL)

  5. Medical Specialty Counseling: A Survey

    ERIC Educational Resources Information Center

    Zimny, George H.; Senturia, Audrey G.

    1973-01-01

    The survey asked the following questions: describe what you do to assist students in resolving their problem of selecting a medical specialty, and what is your reaction to the proposed medical counseling service. (Author)

  6. A Context for Organizational Consulting in Counseling Psychology.

    ERIC Educational Resources Information Center

    Conyne, Robert K.

    Counseling psychologists have become increasingly active as consultants. However, the counseling psychology specialty historically has shown little concerted interest in consultation. Consequently, counseling psychologists have approached consultation through the conceptual lenses of their training and experience in counseling, psychotherapy, and…

  7. Unemployment in the Postindustrial Age: Counseling Redundant Workers.

    ERIC Educational Resources Information Center

    Rundle, Jaclyn; DeBlassie, Richard R.

    1981-01-01

    Focuses on counseling workers who are left jobless when manufacturing plants close. Identifies settings in which redundancy counseling could take place, discussing goals of such counseling, and the special characteristics and counseling needs of displaced workers. (RC)

  8. Genetic Variants in Diseases of the Extrapyramidal System

    PubMed Central

    Oczkowska, Anna; Kozubski, Wojciech; Lianeri, Margarita; Dorszewska, Jolanta

    2014-01-01

    Knowledge on the genetics of movement disorders has advanced significantly in recent years. It is now recognized that disorders of the basal ganglia have genetic basis and it is suggested that molecular genetic data will provide clues to the pathophysiology of normal and abnormal motor control. Progress in molecular genetic studies, leading to the detection of genetic mutations and loci, has contributed to the understanding of mechanisms of neurodegeneration and has helped clarify the pathogenesis of some neurodegenerative diseases. Molecular studies have also found application in the diagnosis of neurodegenerative diseases, increasing the range of genetic counseling and enabling a more accurate diagno-sis. It seems that understanding pathogenic processes and the significant role of genetics has led to many experiments that may in the future will result in more effective treatment of such diseases as Parkinson’s or Huntington’s. Currently used molecular diagnostics based on DNA analysis can identify 9 neurodegenerative diseases, including spinal cerebellar ataxia inherited in an autosomal dominant manner, dentate-rubro-pallido-luysian atrophy, Friedreich’s disease, ataxia with ocu-lomotorapraxia, Huntington's disease, dystonia type 1, Wilson’s disease, and some cases of Parkinson's disease. PMID:24653660

  9. Genetics Home Reference: 5q minus syndrome

    MedlinePlus

    ... and management of various health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related ... in patients with del(5q) myelodysplastic syndromes: linking mechanism of action to clinical outcomes. Ann Hematol. 2014 Jan;93( ...

  10. Genetics Home Reference: Andersen-Tawil syndrome

    MedlinePlus

    ... stature and an abnormal curvature of the spine ( scoliosis ). Two types of Andersen-Tawil syndrome are distinguished ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  11. Genetics Home Reference: isodicentric chromosome 15 syndrome

    MedlinePlus

    ... and a spine that curves to the side ( scoliosis ). Related Information What does it mean if a ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  12. Genetics Home Reference: Freeman-Sheldon syndrome

    MedlinePlus

    ... have a spine that curves to the side ( scoliosis ). People with Freeman-Sheldon syndrome also have an ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  13. Genetics Home Reference: Klippel-Feil syndrome

    MedlinePlus

    ... abnormal side-to-side curvature of the spine ( scoliosis ) due to malformation of the vertebrae; fusion of ... health conditions: Diagnostic Tests Drug Therapy Surgery and Rehabilitation Genetic Counseling Palliative Care Related Information How are ...

  14. Genetics, society, and decisions

    SciTech Connect

    Kowles, R.V.

    1985-01-01

    This book provides a conceptual understanding of the biology of genes and also gives current events and controversies in the field. Basic transmission genetics, molecular genetics, and population genetics are covered, with additional discussions relating to such topics as agriculture, aging, forensic science, genetic counseling, gene splicing, and recombinant DNA. Low level radiation and its effects, drugs and heredity, IQ, heredity and racial variation, and creationism versus evolution are also described. ''Billboard'' style diagrams visually explain important concepts. Boldfaced key terms are defined within the text and in a comprehensive glossary. Selected readings, discussion questions and problems, and excellent chapter summaries further aid study.

  15. The Simple Camera in School Counseling

    ERIC Educational Resources Information Center

    Schudson, Karen Rubin

    1975-01-01

    This article develops the concept of photo counseling and places special emphasis on the school counselor's use of the still camera. Three clinical examples highlight the variety of situations in which photography can be instrumental in school counseling. (Author)

  16. The Counseling of Minority Group Students

    ERIC Educational Resources Information Center

    Collins, Dwane R.; Collins, Myrtle T.

    1974-01-01

    This article maintains that the counseling of minority students is complicated and demands a high level of professional competence. Discusses needs, mores, and life styles of certain minority groups and includes suggestions for improving the counseling relationship. (HMV)

  17. Behavioral Counseling to Prevent Skin Cancer

    MedlinePlus

    ... Task Force learned about the potential benefits and harms of this counseling. This fact sheet explains the ... skin looking young and healthy. Potential Benefits and Harms of Behavioral Counseling The main potential benefit of ...

  18. CDC Vital Signs: Alcohol Screening and Counseling

    MedlinePlus

    ... Digital Press Kit Read the MMWR Science Clips Alcohol Screening and Counseling An effective but underused health ... for alcohol screening and counseling. Key points on alcohol consumption from the 2010 US Dietary Guidelines for ...

  19. A Humanistic Existential Perspective on Career Counseling.

    ERIC Educational Resources Information Center

    Bloland, Paul A.; Walker, Betty A.

    1981-01-01

    Presents an approach to career counseling based on humanistic existentialism (HE). The philosophical and psychological background of HE is reviewed with implications for various counseling dimensions including diagnosis, process, outcomes, interview techniques, test interpretation, and occupational information. (RC)

  20. Counseling Native Americans: Guidelines for Group Process.

    ERIC Educational Resources Information Center

    Dufrene, Phoebe M.; Coleman, Victoria D.

    1992-01-01

    Discusses how group counseling professionals can best serve Native Americans using traditional Native American healing and spirituality. Highlights implications for counseling and development professionals. Discusses Native Americans' background, relationship with the federal government, regional considerations, psychological and sociological…

  1. Career Counseling in An Industrial Society

    ERIC Educational Resources Information Center

    Super, Donald E.

    1974-01-01

    Discusses post-industrial society as one in which leisure plays an important role. Reviews the construct "career", its implications, and redefines career counseling. Presented at Canadian Guidance and Counseling Association, Winnipeg, June, 1973. (Author/BW)

  2. Declining Counseling Research in Counseling Psychology Journals: Is the Sky Falling?

    ERIC Educational Resources Information Center

    Lichtenberg, James W.

    2011-01-01

    Scheel et al. note a rather precipitous decline over the past 30 years in the number and proportion of counseling-related research articles appearing in "Journal of Counseling Psychology" ("JCP") and "The Counseling Psychologist" ("TCP"). Certainly, counseling psychology as a field has changed over its 65-year history, and a great deal of that…

  3. Counseling as an Art: The Creative Arts in Counseling.

    ERIC Educational Resources Information Center

    Gladding, Samuel T.

    In this book counseling approaches with a variety of populations are examined using these creative arts: music; dance/movement; imagery; visual arts; literature; drama; and play and humor. It is noted that all of these arts are process-oriented, emotionally sensitive, socially directed, and awareness-focused. Chapter 1 discusses the history,…

  4. Continuum of Counseling Goals: A Framework for Differentiating Counseling Strategies.

    ERIC Educational Resources Information Center

    Bruce, Paul

    1984-01-01

    Presents counseling goals in a developmental continuum similar in concept to Maslow's hierarchy of needs. Discusses ego development goals, socialization goals, developmental goals, self-esteem goals, and self-realization goals and describes characteristics and implications of the continuum. (JAC)

  5. Counseling African American Families. The Family Psychology and Counseling Series.

    ERIC Educational Resources Information Center

    Sanders, Jo-Ann Lipford, Ed.; Bradley, Carla, Ed.

    A major challenge confronting the counseling profession is meeting the needs of African American families. This monograph presents a discussion of the issues involved in the clinical assessment and treatment of these families. It explores their distinct experiences as they navigate through a society often hostile towards them. Chapters include:…

  6. Guidance and Counseling Component, Group Counseling Course. Career Development Project.

    ERIC Educational Resources Information Center

    Reinhardt, Judy; Hanselman, Charlotte

    The 14 activities in the group counseling course, designed for the seventh grade level, concentrate on the individual goal of heightened self-awareness in order to make life career decisions. Group objectives emphasize: personal interest and values evaluation; better understanding of influences on personal values, of individual differences, of…

  7. Motivational Counseling: Implications for Counseling Male Juvenile Sex Offenders

    ERIC Educational Resources Information Center

    Patel, Samir H.; Lambie, Glenn W.; Glover, Michelle Muenzenmeyer

    2008-01-01

    Juvenile sex offenders (JSOs) often appear unmotivated to change, which thus necessitates a therapeutic approach that matches "resistant" client characteristics. In this article, the authors review common traits of JSOs, introduce motivational counseling as an effective treatment modality, and offer a case illustration. (Contains 1 table and 1…

  8. Perceptions of Clients and Counseling Professionals regarding Spirituality in Counseling

    ERIC Educational Resources Information Center

    Morrison, Julie Q.; Clutter, Stacy M.; Pritchett, Elaine M.; Demmitt, Alan

    2009-01-01

    Although current research indicates that psychotherapeutic change both affects and is affected by spiritual concerns, relatively little is known about the degree to which spirituality is used as an intervention in counseling and how it is perceived by clients and mental health professionals. The purpose of this study was to examine the perceptions…

  9. Providing Career Counseling to Lesbian Women.

    ERIC Educational Resources Information Center

    McVannel, Martha Erwin

    The literature on career counseling and lesbian women was reviewed resulting in the identification of 10 maxims regarding providing career counseling to lesbian women. The maxims are as follows: (1) sexual orientation is essential information when providing career counseling; (2) it is important that the workplace be lesbian-affirming; (3) lesbian…

  10. Counseling Style Preference of International Students.

    ERIC Educational Resources Information Center

    Yau, Tow Yee; And Others

    1992-01-01

    Used single-subject research design to examine counseling style preference of six international clients and one white U.S. client within and across four counseling sessions. Clients listened to audiotape counseling session containing problem-solving approach and client-centered approach and rated both. Clients also rated these styles in actual…

  11. Evaluating School Counseling Websites: An Evaluation Tool

    ERIC Educational Resources Information Center

    Reynolds, Glenda P.; Kitchens, Helen

    2007-01-01

    The purpose of this paper is to describe the use of a webpage evaluation for embedding technology in classes for teaching school counseling and counseling program development. The instructors created the Website Evaluation Form to help students recognize qualities of webpages that would enhance the school counseling program, broaden their…

  12. Peer Counselling Empowerment and Ethical Considerations

    ERIC Educational Resources Information Center

    Zakaria, Noor Syamilah

    2007-01-01

    Peer counselling empowerment entails specific considerations of the training process as peer counsellors. Specific issues related to such empowerment are discussed in light of the counselling profession. Subsequently, ethical considerations pertaining to peer counselling such as confidentiality, dual relationships, competency and vicarious…

  13. Ethical and Spiritual Values in Counseling.

    ERIC Educational Resources Information Center

    Burke, Mary Thomas, Ed.; Miranti, Judith G., Ed.

    This book presents a compilation of articles previously published in the journal "Counseling and Values." The follwing articles are included: (1) "Ethics and Spirituality: The Prevailing Forces Influencing the Counseling Profession" (Judith Miranti, Mary Thomas Burke); (2) "Three Contributions of a Spiritual Perspective to Counseling,…

  14. Chuck Warnath: Visionary Gadfly of Professional Counseling.

    ERIC Educational Resources Information Center

    Mallinckrodt, Brent; Sprinkle, Mary Ann

    1991-01-01

    Charles F. "Chuck" Warnath, professor emeritus and former university counseling center director, was interviewed about his personal life, early training with Donald Super, counseling center experiences, convictions about professional counseling, dedication to issues of equality, and current struggles with the progressive effects of retinitis…

  15. The Strength-Based Counseling Model

    ERIC Educational Resources Information Center

    Smith, Elsie J.

    2006-01-01

    This article proposes a strength-based model for counseling at-risk youth. The author presents the assumptions, basic concepts, and values of the strength perspective in counseling and offers strength categories as a conceptual model for viewing clients' behavior. Propositions leading toward a theory of strength-based counseling and stages of this…

  16. The Myth of Value Free Counseling.

    ERIC Educational Resources Information Center

    Kegley, John F.

    A counselor's values are inherent in all that he does with a client, ranging from selection of the counseling modality to the decision to terminate facilitative intervention. Value-free counseling is a myth, and recognition of this fact is the first step in arriving at a clear conception of what counseling can, or should, be. A counselor can be…

  17. Ethical Aspects of Spirituality in Counseling

    ERIC Educational Resources Information Center

    Steen, Rheta LeAnne; Engels, Dennis; Thweatt, W. Tom, III

    2006-01-01

    The authors review the professional literature related to spirituality and ethics in counseling. The American Counseling Association's (1995, 2005) code of ethics was used as a basis for exploring the possibilities and limits/ boundaries appropriate for discussion of spirituality in counseling. Implications for practice and research are discussed.

  18. The Career Counseling with Underserved Populations Model

    ERIC Educational Resources Information Center

    Pope, Mark

    2011-01-01

    Providing effective career counseling to culturally diverse individuals is not the same as helping those from majority cultures. The Career Counseling With Underserved Populations model aids career counselors in supporting underserved populations as they strive to address their important career counseling issues.

  19. 37 CFR 41.108 - Lead counsel.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 37 Patents, Trademarks, and Copyrights 1 2010-07-01 2010-07-01 false Lead counsel. 41.108 Section... COMMERCE PRACTICE BEFORE THE BOARD OF PATENT APPEALS AND INTERFERENCES Contested Cases § 41.108 Lead counsel. (a) A party may be represented by counsel. The Board may require a party to appoint a...

  20. Cognition in Counseling: Integrating Two Theoretical Approaches.

    ERIC Educational Resources Information Center

    Harris, Jeff E.; Heesacker, Martin

    Learning and attitude change are two cognitive processes essential to therapeutic change in counseling. Recently two cognitive models that reflect current research and theory, one focusing on learning and the other on attitude change, have each been applied to counseling with promising results. Martin's cognitive instructional counseling (CIC) is…

  1. 10 CFR 820.51 - General Counsel.

    Code of Federal Regulations, 2013 CFR

    2013-01-01

    ... 10 Energy 4 2013-01-01 2013-01-01 false General Counsel. 820.51 Section 820.51 Energy DEPARTMENT OF ENERGY PROCEDURAL RULES FOR DOE NUCLEAR ACTIVITIES Interpretations § 820.51 General Counsel. The General Counsel shall be the DOE Official responsible for formulating and issuing any...

  2. 20 CFR 638.517 - Counseling.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 20 Employees' Benefits 3 2010-04-01 2010-04-01 false Counseling. 638.517 Section 638.517 Employees... THE JOB TRAINING PARTNERSHIP ACT Center Operations § 638.517 Counseling. The center operator shall establish and conduct an ongoing structured counseling program in accordance with procedures issued by...

  3. 24 CFR 206.41 - Counseling.

    Code of Federal Regulations, 2010 CFR

    2010-04-01

    ... 24 Housing and Urban Development 2 2010-04-01 2010-04-01 false Counseling. 206.41 Section 206.41... CONVERSION MORTGAGE INSURANCE Eligibility; Endorsement Eligible Mortgagors § 206.41 Counseling. (a) List... receive counseling. (b) Information to be provided. A counselor must discuss with the mortgagor: (1)...

  4. Identifying Role Diffusion in School Counseling

    ERIC Educational Resources Information Center

    Astramovich, Randall L.; Hoskins, Wendy J.; Gutierrez, Antonio P.; Bartlett, Kerry A.

    2013-01-01

    Role ambiguity in professional school counseling is an ongoing concern despite recent advances with comprehensive school counseling models. The study outlined in this article examined role diffusion as a possible factor contributing to ongoing role ambiguity in school counseling. Participants included 109 graduate students enrolled in a…

  5. 28 CFR 551.113 - Counseling.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 28 Judicial Administration 2 2010-07-01 2010-07-01 false Counseling. 551.113 Section 551.113... Pretrial Inmates § 551.113 Counseling. (a) When consistent with institution security and good order, pretrial inmates may be allowed the opportunity to receive counseling services with convicted inmates....

  6. Values and Social Justice in Counseling

    ERIC Educational Resources Information Center

    Crethar, Hugh C.; Winterowd, Carrie L.

    2012-01-01

    The construct of social justice in counseling is defined and operationalized in this article. This is followed by a discussion about the intersection between social justice in counseling and philosophy, ethics, and spirituality. A call to action for counseling professionals is offered. (Contains 1 figure.)

  7. Professional Counseling in Taiwan: Past to Future

    ERIC Educational Resources Information Center

    Guo, Yuh-Jen; Wang, Shu-Ching; Combs, Don C.; Lin, Yi-Chun; Johnson, Veronica

    2013-01-01

    Because of the recent introduction of a licensure law, professional counseling has grown rapidly in Taiwan after decades of slow development. The authors provide a historical review of the development of professional counseling in Taiwan and discuss the current status and future trajectory of professional counseling in Taiwan.

  8. Brief Counseling with Hispanic American College Students.

    ERIC Educational Resources Information Center

    Littrell, John M.; Cruz, Jeannette

    1998-01-01

    Hispanic-American college students (N=16) met with a Puerto-Rican counselor for two brief counseling sessions. Brief counseling was a viable and effective approach in helping the students reach their goals. Examined types of student concerns about, and student perceptions of, brief counseling. (Author)

  9. 32 CFR 724.703 - Legal counsel.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 32 National Defense 5 2011-07-01 2011-07-01 false Legal counsel. 724.703 Section 724.703 National... Organization of the Naval Discharge Review Board § 724.703 Legal counsel. Normally, the NDRB shall function without the immediate attendance of legal counsel. In the event that a legal advisory opinion is...

  10. Globalization and Counseling: Professional Issues for Counselors

    ERIC Educational Resources Information Center

    Lorelle, Sonya; Byrd, Rebekah; Crockett, Stephanie

    2012-01-01

    Scholars have examined globalization for many years in terms of its impact on individuals, but it remains a concept not often discussed in the counseling literature. As counseling transforms from a Western-based practice to a global phenomenon, it is important to understand professional counseling within an international and multicultural context.…

  11. Effective Counseling with American Indian Students.

    ERIC Educational Resources Information Center

    Wetsit, Deborah

    Counseling has always been a part of American Indian culture. Only recently has the European American counseling establishment recognized the role of culture in counseling. Developing a historical understanding of American Indians is important to working with American Indian students. It is also important for school counselors to recognize the…

  12. 32 CFR 724.703 - Legal counsel.

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... 32 National Defense 5 2010-07-01 2010-07-01 false Legal counsel. 724.703 Section 724.703 National... Organization of the Naval Discharge Review Board § 724.703 Legal counsel. Normally, the NDRB shall function without the immediate attendance of legal counsel. In the event that a legal advisory opinion is...

  13. Counselling Roots: A Brief Look Ahead.

    ERIC Educational Resources Information Center

    Conklin, R. C.

    1985-01-01

    Discusses the history of counseling in general, with particular attention to its rapid growth in Canada in the last 20 years. Suggests the need for unification of counseling organizations in Canada if counseling is ever to be established as a bona fide profession. (BH)

  14. Infusing Counseling Skills in Test Interpretation.

    ERIC Educational Resources Information Center

    Rawlins, Melanie E.; And Others

    1991-01-01

    Presents an instructional model based on Neurolinguistic Programming that links counseling student course work in measurement and test interpretation with counseling techniques and theory. A process incorporating Neurolinguistic Programming patterns is outlined for teaching graduate students the counseling skills helpful in test interpretation.…

  15. A Psychodynamic View of Counseling Psychology.

    ERIC Educational Resources Information Center

    Bordin, Edward S.

    1980-01-01

    Discusses ways that psychodynamic, including psychoanalytic, ideas can be applied to the tasks of the counseling psychologist. The counseling psychologist's developmental counseling orientation should be broadened to include all of the stages of the life cycle, not just the adolescent period. (Author)

  16. Group Counseling: Concepts and Procedures. Third Edition.

    ERIC Educational Resources Information Center

    Berg, Robert C.; Landreth, Garry L.; Fall, Kevin A.

    This third edition is designed to be used as a primary source for traditional courses in group counseling. Providing a thorough discussion of the rationale for using group counseling, this book examines the differing approaches of each author to group counseling, outlines practical suggestions on the skills needed for effective facilitation of…

  17. Multicultural Career Counseling: Ten Essentials for Training.

    ERIC Educational Resources Information Center

    Flores, Lisa Y.; Heppner, Mary J.

    2002-01-01

    Critical areas in which career counselors need training are as follows: demographics, world of work, career and multicultural counseling competence, career counseling process, multicultural counseling theories, career development models, career assessment, barriers to career development, culturally sensitive career centers, and continuing…

  18. Counseling Higher Education Students: Counselors' Positive Experiences

    ERIC Educational Resources Information Center

    Kadambi, Michaela; Audet, Cristelle T.; Knish, Steve

    2010-01-01

    Concept mapping was used to illuminate counselors' positive experiences of providing counseling/psychotherapy to students in higher education. Counseling professionals (N = 65) in 23 colleges and universities responded to the question "What are the positive aspects that motivate you to provide counseling/psychotherapy to students?" From these…

  19. 38 CFR 21.9580 - Counseling.

    Code of Federal Regulations, 2014 CFR

    2014-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 2 2014-07-01 2014-07-01 false Counseling. 21.9580 Section 21.9580 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS (CONTINUED) VOCATIONAL REHABILITATION AND EDUCATION Post-9/11 GI Bill Counseling § 21.9580 Counseling. An individual...

  20. 38 CFR 21.9580 - Counseling.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 2 2011-07-01 2011-07-01 false Counseling. 21.9580 Section 21.9580 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS (CONTINUED) VOCATIONAL REHABILITATION AND EDUCATION Post-9/11 GI Bill Counseling § 21.9580 Counseling. An individual...

  1. 38 CFR 21.9580 - Counseling.

    Code of Federal Regulations, 2013 CFR

    2013-07-01

    ... 38 Pensions, Bonuses, and Veterans' Relief 2 2013-07-01 2013-07-01 false Counseling. 21.9580 Section 21.9580 Pensions, Bonuses, and Veterans' Relief DEPARTMENT OF VETERANS AFFAIRS (CONTINUED) VOCATIONAL REHABILITATION AND EDUCATION Post-9/11 GI Bill Counseling § 21.9580 Counseling. An individual...

  2. A Framework for Chaos Theory Career Counselling

    ERIC Educational Resources Information Center

    Pryor, Robert G. L.

    2010-01-01

    Theory in career development counselling provides a map that counsellors can use to understand and structure the career counselling process. It also provides a means to communicate this understanding and structuring to their clients as part of the counselling intervention. The chaos theory of careers draws attention to the complexity,…

  3. Grief Counseling: A Review of the Literature

    ERIC Educational Resources Information Center

    Daneker, Darlene; Cashwell, Craig

    2005-01-01

    Grief counseling has grown over the past two decades to become a well respected specialty within the field of counseling. This article examines books, articles, and literature developed by leading agencies in the field. Grief counseling is an interdisciplinary field focusing on the clinical aspects of working with individuals involved in dying and…

  4. Fetal Alcohol Syndrome: Implications and Counseling Considerations.

    ERIC Educational Resources Information Center

    Elliott, David J.; Johnson, Norbert

    1983-01-01

    Presents special considerations in counseling fetal alcohol syndrome children and their mothers. Preventive counseling must begin before conception. Adequate education, counseling, testing, treatment, and followup of patients and their families is essential to reduce or eliminate problems associated with maternal alcohol abuse. (JAC)

  5. 37 CFR 41.108 - Lead counsel.

    Code of Federal Regulations, 2012 CFR

    2012-07-01

    ... 37 Patents, Trademarks, and Copyrights 1 2012-07-01 2012-07-01 false Lead counsel. 41.108 Section... COMMERCE PRACTICE BEFORE THE BOARD OF PATENT APPEALS AND INTERFERENCES Contested Cases § 41.108 Lead counsel. (a) A party may be represented by counsel. The Board may require a party to appoint a...

  6. 37 CFR 41.108 - Lead counsel.

    Code of Federal Regulations, 2011 CFR

    2011-07-01

    ... 37 Patents, Trademarks, and Copyrights 1 2011-07-01 2011-07-01 false Lead counsel. 41.108 Section... COMMERCE PRACTICE BEFORE THE BOARD OF PATENT APPEALS AND INTERFERENCES Contested Cases § 41.108 Lead counsel. (a) A party may be represented by counsel. The Board may require a party to appoint a...

  7. Counseling in Switzerland: Past, Present, and Future

    ERIC Educational Resources Information Center

    Thomas, Roslyn; Henning, Stacy

    2012-01-01

    The authors review counseling in Switzerland and compare it with counseling in the United States. They evaluate the role of professional associations and programs and argue that the evolution of counseling is situated within the history and economic, social, and political systems of Switzerland. Findings suggest that Swiss counselors are ready to…

  8. Group Counseling for the Elderly.

    ERIC Educational Resources Information Center

    Capuzzi, Dave; Fillion, Nancy G.

    1979-01-01

    Purposes of the group counseling experience are to accept the aging process as a natural consequence of living, to promote understanding that a positive attitude toward aging can increase chances of enjoying later years, to provide members with information about community resources, and to develop a support system. (Author)

  9. Understanding and Counseling Narcissistic Clients.

    ERIC Educational Resources Information Center

    Stevens, Michael J.; And Others

    1984-01-01

    Provides counselors with an overview of narcissism and its treatment. In the first section, dysfunctional narcissism is described, drawing on the diagnostic indicators presented in the DSM-III and the contemporary object relations theories of Heinz Kohut and Otto Kerberg. The second section focuses on counseling narcissistic clients. (Author/JAC)

  10. Counseling for Work and Relationship

    ERIC Educational Resources Information Center

    Richardson, Mary Sue

    2012-01-01

    Counseling for work and relationship is a social constructionist perspective, informed by feminist and social justice values, and responsive to radical changes in contemporary lives, that fosters a shift in vocational psychology from helping people develop careers to helping people construct lives through work and relationship. The first and major…

  11. A Support Program: Audiological Counseling.

    ERIC Educational Resources Information Center

    Grunblatt, Henna; Daar, Lisa

    1994-01-01

    A program was developed by a school audiologist and school counselor to provide information to children (ages 3-15) about their deafness. The program consists of informational classes addressing basic audiology, hearing aids, frequency modulation (FM) systems, audiograms, and student concerns; and individualized counseling sessions. (Author/JDD)

  12. Counseling Intervention in Cancer Therapy.

    ERIC Educational Resources Information Center

    Pusateri-Vlach, Nancy F.; Moracco, John C.

    1981-01-01

    Recounts the history of cancer treatment to illustrate the long-standing tradition of a holistic approach to the investigation and treatment of cancer, discusses the growing emphasis on holistic cancer treatment and the importance of counseling in such treatment. (Author)

  13. Sources for Cross Cultural Counseling.

    ERIC Educational Resources Information Center

    Calvin, Richmond E.

    School counselors today work with clients from minority races, minority ethnic groups, homosexuals, females, at-risk students and the handicapped. Counselors need to be willing to learn more about these minorities and how to better meet their needs. Many colleges offering counseling programs include multicultural education. Counselors must be…

  14. Using Contracts in Premarital Counseling.

    ERIC Educational Resources Information Center

    Martin, Don; Medler, Byron

    1980-01-01

    The premarital contract is an effective tool in premarital counseling. This contract is a written or verbal agreement that makes more explicit one's attitudes and expectations about aspects that will influence the marital relationship. Topics include division of labor, employment, financial responsibility, and religious beliefs and practices.…

  15. Humanizing Education Through Guidance Counseling.

    ERIC Educational Resources Information Center

    Accola, W. V.

    A computerized information retrieval system has been designed to support the secondary school counseling effort. The system, entitled Total Guidance Information Support System (TGISS), runs on an IBM System/360 Model 65 facility and uses the IBM 2848 Display Control Unit. The software consists of an interactive communications program developed in…

  16. Directions in Rehabilitation Counseling, 1993.

    ERIC Educational Resources Information Center

    Directions in Rehabilitation Counseling, 1993

    1993-01-01

    This volume of 12 lessons--each written by either a medical or a mental health professional--provides expert information on a variety of medical and psychological issues in rehabilitative counseling. The lessons, each of which concludes with a few multiple-choice questions, are: (1) "Geriatric Alcoholism: Identification and Elder-Specific…

  17. Strategies for Counseling Infertile Couples.

    ERIC Educational Resources Information Center

    Daniluk, Judith C.

    1991-01-01

    Presents specific intervention strategies that may serve to reinforce infertility experience as opportunity for personal and marital growth. Concludes through counseling clients may complete much of the emotional work required to reach a point of resolution and acceptance of their infertility. (Author/ABL)

  18. Board Certification in Counseling Psychology

    ERIC Educational Resources Information Center

    Crowley, Susan L.; Lichtenberg, James W.; Pollard, Jeffrey W.

    2012-01-01

    Although specialty board certification by the American Board of Professional Psychology (ABPP) has been a valued standard for decades, the vast majority of counseling psychologists do not pursue board certification in the specialty. The present article provides a brief history of board certification in general and some historical information about…

  19. Procedural Concerns in Couple Counseling.

    ERIC Educational Resources Information Center

    Atwood, Joan D.; Meyer, George

    This document presents a theoretical approach to couple counseling, a systemic approach which views each spouse as having a personal and relationship history that transcends the present marital one. It notes that this approach views a person's life style along two dimensions: the first dimension examines the person's relational experiences at the…

  20. Using Meditation in Addiction Counseling

    ERIC Educational Resources Information Center

    Young, Mark E.; DeLorenzi, Leigh de Armas; Cunningham, Laura

    2011-01-01

    Meditation has been studied as a way of reducing stress in counseling clients since the 1960s. Alcoholics Anonymous, Narcotics Anonymous, and new wave behavior therapies incorporate meditation techniques in their programs. This article identifies meditation's curative factors and limitations when using meditation in addiction settings.