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Sample records for persons undergoing genetic

  1. The Genetics of Personality.

    ERIC Educational Resources Information Center

    Holden, Constance

    1987-01-01

    Reports on the findings of several studies into the genetic similarities of twins. Focuses on the relationships between personality and behavioral genetics and argues that genetic similarity seems to be a better predictor than environmental factors. Discusses psychopathology, cognitive abilities, and personality. (TW)

  2. Aspects of personality in patients with anxiety disorders undergoing capsulotomy.

    PubMed

    Mindus, P; Nyman, H; Rosenquist, A; Rydin, E; Meyerson, B A

    1988-01-01

    Capsulotomy is an established psychosurgical intervention for anxiety disorders. While the effectiveness of the intervention in reducing target symptoms is undisputed, the issue of negative personality changes following capsulotomy is of great concern. We studied prospectively personality traits in nine consecutive patients undergoing capsulotomy for anxiety disorder, using the Rorschach test and a personality inventory, the Karolinska Scales of Personality (KSP), administered before and one year after operation. The protocols were evaluated under blind conditions by an independent assessor who had access to no data other than the age and sex of the patients. The Rorschach findings were used in two main comparison procedures: between the patients pre- and postoperative scores, and between that group and three reference groups. The KSP data were compared both with an age-stratified non-patient control group and with data obtained from groups of neurotic patients. In summary, the capsulotomy patients' personalities, as expressed in their Rorschach interpretations, remained intact, and significant reductions were noted in scales reflecting anxiety and hospitality. Statistically significant changes were also noted after operation in 10 of the 17 scales included in the KSP. While pathological scores were observed preoperatively in many scales, all the postoperative scores but one (Socialization) were within the normal range. Scores on the Socialization scale remained low, which is often the case in chronic patients. It is concluded that the patients displayed more normal personality features after operation than before and that adverse personality changes are not likely to occur after capsulotomy. PMID:3223360

  3. Anxiety and personality characteristics in children undergoing dental interventions.

    PubMed

    Pop-Jordanova, Nada; Sarakinova, Olivera; Markovska-Simoska, Silvana; Loleska, Sofija

    2013-01-01

    Anxiety about and fear of dental treatment have been recognized as sources of problems in the management of child dental patients. It has been suggested that some individuals who are fearful of or anxious about dental treatment have a constitutional vulnerability to anxiety disorders as is evidenced by the presence of multiple fears, generalized anxiety or panic disorders. Concerning the child population, maternal anxiety is considered to be a major factor affecting the behaviour of young children expecting dental intervention. The aim of the study was to the measure general anxiety of children undergoing dental intervention and to compare it with some personality characteristics, such as psychopathology, extroversion and neuroticism. The evaluated sample comprises 50 children (31 girls and 19 boys), randomly selected at the University Dental Hospital, Skopje. The mean age for girls was 11.4 (± 2.4) years, and for boys 10.7 (± 2.6) years. Two psychometric instruments were used: the General Anxiety Scale for Children (GASC) and the Eysenck Personality Questionnaire (EPQ). The study confirms the presence of a high anxiety level (evaluated with GASC) among all children undergoing dental intervention. It also confirmed differences in anxiety scores between girls and boys, girls having higher scores for anxiety. Personality characteristics (evaluated with EPQ) showed low psychopathological traits, moderate extroversion and neuroticism, but accentuated insincerity (evaluated with L scale). L scales are lower with increasing age, but P scores rise with age, which could be related to puberty. No correlation was found between personality traits (obtained scores for EPQ) and anxiety except for neuroticism, which is positively correlated with the level of anxiety. In the management of dental anxiety some response measures (psychological support, biofeedback, and relaxation techniques) are recommended. PMID:24566020

  4. Genetic Polymorphisms Influence Cognition in Patients Undergoing Carotid Interventions.

    PubMed

    Hitchner, Elizabeth; Morrison, Doug; Liao, Phoebe; Rosen, Allyson; Zhou, Wei

    2016-09-01

    While carotid interventions help decrease the risk of stroke, nearly 40% of patients experience cognitive deterioration. Genetic polymorphism in apolipoprotein E (ApoE) and brain-derived neurotrophic factor (BDNF) have been implicated in cognitive impairment; however, it is unclear whether they may influence cognitive changes in patients undergoing carotid intervention. In this study, we seek to assess the role of genetic polymorphisms in carotid intervention-related cognitive change. Polymorphisms related to cognitive function were chosen for this preliminary analysis. Over 2 years, patients undergoing carotid interventions were prospectively recruited. Patients underwent neuropsychological testing 2 weeks prior to and at 1 month following their procedure. Saliva samples were collected for genetic analysis. Logistic regressions were used to identify associations between polymorphisms and cognitive measures. A total of 91 patients were included; all were male with an average age of 70 years. The majority of patients exhibited hypertension (95%) and a history of smoking (81%). Presence of ApoE 4 allele was associated with depression (p= 0.047). After correcting for age and genetic polymorphisms in BDNF and serotonin transporter (5-HTT), ApoE 4 allele was associated with depression (p= 0.044) and showed a trend with baseline cognitive impairment (p= 0.10). Age ≥ 70 years was associated with baseline cognitive impairment after adjusting for the three genetic polymorphisms (p= 0.03). Patients with ApoE 4 and BDNF A polymorphisms performed less well on the visual and verbal memory measures, respectively. Polymorphisms in ApoE and BDNF may provide insight on cognition in patients undergoing carotid interventions; however, the mechanism of this relationship remains unclear. PMID:27574384

  5. Attitudes toward childbearing and prenatal testing in individuals undergoing genetic testing for Lynch Syndrome

    PubMed Central

    Dewanwala, Akriti; Chittenden, Anu; Rosenblatt, Margery; Mercado, Rowena; Garber, Judy E.; Syngal, Sapna

    2011-01-01

    To examine attitudes toward childbearing and prenatal genetic testing among individuals at risk for Lynch Syndrome (LS), the most common type of hereditary colorectal cancer. Individuals undergoing clinical genetic testing for mismatch repair (MMR) gene mutations completed written questionnaires before and after testing. 161 of 192 (84%) eligible individuals participated in the study. Mean age was 46 years (range 20–75), 71% were female, 53% had a personal diagnosis of cancer, and 68% had children. Eighty percent worried about their children’s risk for developing cancer; however only 9% reported their decision to have children was affected by their family history of cancer. When asked whether providing prenatal testing to carriers of MMR gene mutations was ethical, 66% (86/130) of respondents agreed/strongly agreed, 25% (32) were neutral and 9% (12) disagreed/strongly disagreed. Of 48 individuals planning to have children in the future, 57% (27) intended to have children regardless of their genetic test result. If found to carry a MMR gene mutation that confirmed LS, 42% (20) would consider prenatal testing for a future pregnancy and 20% (7/35) of women would consider having children earlier in order to have prophylactic surgery to reduce their risk for gynecologic cancers. Individuals undergoing genetic testing for LS may utilize test results to make reproductive decisions. Clinicians should be prepared to discuss options of reproductive genetic technologies during counseling of LS patients of childbearing age. PMID:21567236

  6. Genetics of personality: are we making progress?

    PubMed

    Van Gestel, S; Van Broeckhoven, C

    2003-10-01

    For centuries, scientists are intrigued by the differences in personality between individuals. As early as in the ancient Greek civilization, people tried to formulate theories to systematize this diversity. With the increased interest in behavior genetics, personality was also considered a challenging phenotype. From the early start, studies suggested a heritable component in personality. After the successes of molecular genetic studies in unraveling the genetic basis of (mostly) monogenic diseases, the focus shifted towards complex traits, including psychiatric disorders. It was observed in several studies that personality measures differed between patients with psychiatric disorders and healthy controls. Therefore, normal personality was considered a viable endophenotype in the search for genes involved in psychiatric disorders such as affective disorders, ADHD and substance dependence. Genes that were to be found in studies on personality could be candidate genes for particular psychiatric disorders. In the course of time, however the study of genes for personality turned out to be at least as hard as the search for genes involved in other complex disorders. In this review, past studies, present problems and future directions concerning the study of personality genetics are discussed.

  7. Personalized medicine and human genetic diversity.

    PubMed

    Lu, Yi-Fan; Goldstein, David B; Angrist, Misha; Cavalleri, Gianpiero

    2014-09-01

    Human genetic diversity has long been studied both to understand how genetic variation influences risk of disease and infer aspects of human evolutionary history. In this article, we review historical and contemporary views of human genetic diversity, the rare and common mutations implicated in human disease susceptibility, and the relevance of genetic diversity to personalized medicine. First, we describe the development of thought about diversity through the 20th century and through more modern studies including genome-wide association studies (GWAS) and next-generation sequencing. We introduce several examples, such as sickle cell anemia and Tay-Sachs disease that are caused by rare mutations and are more frequent in certain geographical populations, and common treatment responses that are caused by common variants, such as hepatitis C infection. We conclude with comments about the continued relevance of human genetic diversity in medical genetics and personalized medicine more generally. PMID:25059740

  8. Behavioural-genetic perspectives on personality function.

    PubMed

    Jang, K L; Vernon, P A; Livesley, W J

    2001-04-01

    In the wake of the recent announcements that the human genome has been mapped, efforts to identify the genetic loci underlying personality function will grow and intensify. Much research has already been done in this area, but it has for the most part been limited to classical biometrical approaches designed to determine if personality has a heritable basis. These so-called "heritability" studies estimate how much of the individual differences in personality are attributable to genetic differences among people. Molecular-genetic approaches, on the other hand, are designed to identify specific putative loci, but have yielded mixed results. The inconsistency in research findings can be attributed in part to the lack of sufficient numbers of genetic markers in the chromosomal regions of interest--a problem that the creation of a map of the human genome will help to rectify. This map and its inevitable refinements, however, can only advance the search for the genes for personality to a limited degree. Serious unresolved problems in the conceptualization and definition of personality and its dysfunction remain, which will hamper the search for personality genes.

  9. [Personal identification with biometric and genetic methods].

    PubMed

    Cabanis, Emmanuel-Alain; Le Gall, Jean-Yves; Ardaillou, Raymond

    2007-11-01

    The need for personal identification is growing in many avenues of society. To "identify" a person is to establish a link between his or her observed characteristics and those previously stored in a database. To "authenticate" is to decide whether or not someone is the person he or she claims to be. These two objectives can now be achieved by analysing biometric data and genetic prints. All biometric techniques proceed in several stages: acquisition of an image or physical parameters, encoding them with a mathematical model, comparing the results of this model with those contained in the database, and calculating the error risk. These techniques must be usable worldwide and must examine specific and permanent personal data. The most widely used are facial recognition, digital prints (flexion folds and dermatoglyphs, that offer the advantage of leaving marks), and the surface and texture of the iris. Other biometric techniques analyse behaviours such as walking, signing, typing, or speaking. Implanted radio-transmitters are another means of identification. All these systems are evaluated on the basis of the same parameters, namely the false rejection rate, the false acceptance rate, and the failure-to-enrol rate. The uses of biometrics are increasing and diversifying, and now include national and international identification systems, control of access to protected sites, criminal and victim identification, and transaction security. Genetic methods can identify individuals almost infallibly, based on short tandem repeats of 2-5 nucleotides, or microsatellites. The most recent kits analyze 11-16 independent autosomal markers. Mitochondrial DNA and Y chromosome DNA can also be analyzed. These genetic tests are currently used to identify suspected criminals or their victims from biological samples, and to establish paternity. Personal identification raises many ethical questions, however, such as when to create and how to use a database while preserving personal freedom

  10. [Personal identification with biometric and genetic methods].

    PubMed

    Cabanis, Emmanuel-Alain; Le Gall, Jean-Yves; Ardaillou, Raymond

    2007-11-01

    The need for personal identification is growing in many avenues of society. To "identify" a person is to establish a link between his or her observed characteristics and those previously stored in a database. To "authenticate" is to decide whether or not someone is the person he or she claims to be. These two objectives can now be achieved by analysing biometric data and genetic prints. All biometric techniques proceed in several stages: acquisition of an image or physical parameters, encoding them with a mathematical model, comparing the results of this model with those contained in the database, and calculating the error risk. These techniques must be usable worldwide and must examine specific and permanent personal data. The most widely used are facial recognition, digital prints (flexion folds and dermatoglyphs, that offer the advantage of leaving marks), and the surface and texture of the iris. Other biometric techniques analyse behaviours such as walking, signing, typing, or speaking. Implanted radio-transmitters are another means of identification. All these systems are evaluated on the basis of the same parameters, namely the false rejection rate, the false acceptance rate, and the failure-to-enrol rate. The uses of biometrics are increasing and diversifying, and now include national and international identification systems, control of access to protected sites, criminal and victim identification, and transaction security. Genetic methods can identify individuals almost infallibly, based on short tandem repeats of 2-5 nucleotides, or microsatellites. The most recent kits analyze 11-16 independent autosomal markers. Mitochondrial DNA and Y chromosome DNA can also be analyzed. These genetic tests are currently used to identify suspected criminals or their victims from biological samples, and to establish paternity. Personal identification raises many ethical questions, however, such as when to create and how to use a database while preserving personal freedom

  11. Personalized medicine and access to genetic technologies.

    PubMed

    den Exter, André

    2010-01-01

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

  12. A phenotypic null hypothesis for the genetics of personality.

    PubMed

    Turkheimer, Eric; Pettersson, Erik; Horn, Erin E

    2014-01-01

    We review the genetically informed literature on the genetics of personality. Over the past century, quantitative genetic studies, using identical and fraternal twins, have demonstrated that differences in human personality are substantially heritable. We focus on more contemporary questions to which that basic observation has led. We examine whether differences in the heritability of personality are replicable across different traits, samples, and studies; how the heritability of personality relates to its reliability; and how behavior genetics can be employed in studies of validity, and we discuss the stability of personality in genetic and environmental variance. The appropriate null hypothesis in behavior genetics is not that genetic or environmental influence on personality is zero. Instead, we offer a phenotypic null hypothesis, which states that genetic variance is not an independent mechanism of individual differences in personality but rather a reflection of processes that are best conceptualized at the phenotypic level. PMID:24050184

  13. The Impact of the Availability of Prevention Studies on the Desire to Undergo Predictive Testing in Persons at-risk for Autosomal Dominant Alzheimer’s Disease

    PubMed Central

    Hooper, Megan; Grill, Joshua D.; Rodriguez-Agudelo, Yaneth; Medina, Luis D.; Fox, Michelle; Alvarez-Retuerto, Ana Isabel; Wharton, David; Brook, Jenny; Ringman, John M.

    2013-01-01

    Persons at-risk for autosomal dominant neurodegenerative diseases provide the opportunity to efficiently test preventive interventions. Only a minority of such persons, however, choose to undergo revealing genetic testing, presenting a challenge to enrollment. Thirty-four preclinical Latinos (n = 26) and non-Latinos at-risk for familial Alzheimer’s disease (FAD) unaware of their genetic status were administered a questionnaire exploring their interest in undergoing revealing genetic testing at baseline and in the context of eligibility for four prevention trials of increasing invasiveness. Forty-four percent of subjects expressed a baseline interest in undergoing revealing testing which increased to 85% in order to be eligible for a study of an oral drug "felt to be very safe.” If there were a 50% chance of receiving placebo, this number dropped to 62% (p = 0.02). For those not interested in a study involving a 50% chance of receiving placebo, a range of 5% to 40% chance of receiving placebo was given as acceptable. For more invasive studies, living in the U.S. (as opposed to Mexico) positively influenced the likelihood of participating. Our data suggests that clinical trial designs in which persons must confront their genetic status prior to enrollment are feasible. Study designs to minimize the likelihood of being placed on placebo or provide the eventual administration of the drug through open-label extensions should be considered. PMID:23876673

  14. Genetic Influences on the Organization and Development of Personality

    ERIC Educational Resources Information Center

    Dworkin, Robert H.; And Others

    1977-01-01

    Data from a longitudinal twin study of personality were analyzed for genetic influences utilizing scores from the Minnesota Multiphasic Personality Inventory and the California Psychological Inventory. (Author/JMB)

  15. Genetic Influences on Personality from Infancy to Adulthood.

    ERIC Educational Resources Information Center

    Goldsmith, H. H.

    1983-01-01

    Provides an overview of recent behavior-genetic studies of personality that document (1) the demonstration of genetic bases for stability of certain personality dimensions, (2) evidence suggesting the most influential environmental sources of variation are those not jointly experienced by family members, and (3) continuing controversy regarding…

  16. Specific psychosocial issues of individuals undergoing genetic counseling for cancer - a literature review.

    PubMed

    Eijzenga, Willem; Hahn, Daniela E E; Aaronson, Neil K; Kluijt, Irma; Bleiker, Eveline M A

    2014-04-01

    Approximately 25% of individuals undergoing genetic counseling for cancer experiences clinically relevant levels of distress, anxiety and/or depression. However, these general psychological outcomes that are used in many studies do not provide detailed information on the specific psychosocial problems experienced by counselees. The aim of this review was to investigate the specific psychosocial issues encountered by individuals undergoing genetic counseling for cancer, and to identify overarching themes across these issues. A literature search was performed, using four electronic databases (PubMed, PsychInfo, CINAHL and Embase). Papers published between January 2000 and January 2013 were selected using combinations, and related indexing terms of the keywords: 'genetic counseling', 'psychology' and 'cancer'. In total, 25 articles met our inclusion criteria. We identified the specific issues addressed by these papers, and used meta-ethnography to identify the following six overarching themes: coping with cancer risk, practical issues, family issues, children-related issues, living with cancer, and emotions. A large overlap in the specific issues and themes was found between these studies, suggesting that research on specific psychosocial problems within genetic counseling has reached a point of saturation. As a next step, efforts should be made to detect and monitor these problems of counselees at an early stage within the genetic counseling process.

  17. Genetic Knowledge Among Participants in the Coriell Personalized Medicine Collaborative.

    PubMed

    Schmidlen, Tara J; Scheinfeldt, Laura; Zhaoyang, Ruixue; Kasper, Rachel; Sweet, Kevin; Gordon, Erynn S; Keller, Margaret; Stack, Cathy; Gharani, Neda; Daly, Mary B; Jarvis, Joseph; Christman, Michael F

    2016-04-01

    Genetic literacy is essential for the effective integration of genomic information into healthcare; yet few recent studies have been conducted to assess the current state of this knowledge base. Participants in the Coriell Personalized Medicine Collaborative (CPMC), a prospective study assessing the impact of personalized genetic risk reports for complex diseases and drug response on behavior and health outcomes, completed genetic knowledge questionnaires and other surveys through an online portal. To assess the association between genetic knowledge and genetic education background, multivariate linear regression was performed. 4 062 participants completed a genetic knowledge and genetic education background questionnaire. Most were older (mean age: 50), Caucasian (90 %), female (59 %), highly educated (69 % bachelor's or higher), with annual household income over $100 000 (49 %). Mean percent correct was 76 %. Controlling for demographics revealed that health care providers, participants previously exposed to genetics, and participants with 'better than most' self-rated knowledge were significantly more likely to have a higher knowledge score (p < 0.001). Overall, genetic knowledge was high with previous genetic education experience predictive of higher genetic knowledge score. Education is likely to improve genetic literacy, an important component to expanded use of genomics in personalized medicine. PMID:26306685

  18. 41 CFR 102-36.270 - What if a federal agency requests personal property that is undergoing donation screening or in...

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... requests personal property that is undergoing donation screening or in the sales process? 102-36.270... agency requests personal property that is undergoing donation screening or in the sales process? Prior to... property undergoing donation screening or in the sales process. Federal transfers may be authorized...

  19. 41 CFR 102-36.270 - What if a federal agency requests personal property that is undergoing donation screening or in...

    Code of Federal Regulations, 2010 CFR

    2010-07-01

    ... requests personal property that is undergoing donation screening or in the sales process? 102-36.270... agency requests personal property that is undergoing donation screening or in the sales process? Prior to... property undergoing donation screening or in the sales process. Federal transfers may be authorized...

  20. Happiness is a personal(ity) thing: the genetics of personality and well-being in a representative sample.

    PubMed

    Weiss, Alexander; Bates, Timothy C; Luciano, Michelle

    2008-03-01

    Subjective well-being is known to be related to personality traits. However, to date, nobody has examined whether personality and subjective well-being share a common genetic structure. We used a representative sample of 973 twin pairs to test the hypothesis that heritable differences in subjective well-being are entirely accounted for by the genetic architecture of the Five-Factor Model's personality domains. Results supported this model. Subjective well-being was accounted for by unique genetic influences from Neuroticism, Extraversion, and Conscientiousness, and by a common genetic factor that influenced all five personality domains in the directions of low Neuroticism and high Extraversion, Openness, Agreeableness, and Conscientiousness. These findings indicate that subjective well-being is linked to personality by common genes and that personality may form an "affective reserve" relevant to set-point maintenance and changes in set point over time.

  1. The contribution of additive genetic variation to personality variation: heritability of personality.

    PubMed

    Dochtermann, Ned A; Schwab, Tori; Sih, Andrew

    2015-01-01

    Individual animals frequently exhibit repeatable differences from other members of their population, differences now commonly referred to as 'animal personality'. Personality differences can arise, for example, from differences in permanent environmental effects--including parental and epigenetic contributors--and the effect of additive genetic variation. Although several studies have evaluated the heritability of behaviour, less is known about general patterns of heritability and additive genetic variation in animal personality. As overall variation in behaviour includes both the among-individual differences that reflect different personalities and temporary environmental effects, it is possible for personality to be largely genetically influenced even when heritability of behaviour per se is quite low. The relative contribution of additive genetic variation to personality variation can be estimated whenever both repeatability and heritability are estimated for the same data. Using published estimates to address this issue, we found that approximately 52% of animal personality variation was attributable to additive genetic variation. Thus, while the heritability of behaviour is often moderate or low, the heritability of personality is much higher. Our results therefore (i) demonstrate that genetic differences are likely to be a major contributor to variation in animal personality and (ii) support the phenotypic gambit: that evolutionary inferences drawn from repeatability estimates may often be justified.

  2. Genetic components of variation in Nemophila menziesii undergoing inbreeding: morphology and flowering time.

    PubMed

    Shaw, R G; Byers, D L; Shaw, F H

    1998-12-01

    The standard approaches to estimation of quantitative genetic parameters and prediction of response to selection on quantitative traits are based on theory derived for populations undergoing random mating. Many studies demonstrate, however, that mating systems in natural populations often involve inbreeding in various degrees (i.e. , self matings and matings between relatives). Here we apply theory developed for estimating quantitative genetic parameters for partially inbreeding populations to a population of Nemophila menziesii recently obtained from nature and experimentally inbred. Two measures of overall plant size and two of floral size expressed highly significant inbreeding depression. Of three dominance components of phenotypic variance that are defined under partial inbreeding, one was found to contribute significantly to phenotypic variance in flower size and flowering time, while the remaining two components contributed only negligibly to variation in each of the five traits considered. Computer simulations investigating selection response under the more complete genetic model for populations undergoing mixed mating indicate that, for parameter values estimated in this study, selection response can be substantially slowed relative to predictions for a random mating population. Moreover, inbreeding depression alone does not generally account for the reduction in selection response. PMID:9832540

  3. Genetic components of variation in Nemophila menziesii undergoing inbreeding: morphology and flowering time.

    PubMed Central

    Shaw, R G; Byers, D L; Shaw, F H

    1998-01-01

    The standard approaches to estimation of quantitative genetic parameters and prediction of response to selection on quantitative traits are based on theory derived for populations undergoing random mating. Many studies demonstrate, however, that mating systems in natural populations often involve inbreeding in various degrees (i.e. , self matings and matings between relatives). Here we apply theory developed for estimating quantitative genetic parameters for partially inbreeding populations to a population of Nemophila menziesii recently obtained from nature and experimentally inbred. Two measures of overall plant size and two of floral size expressed highly significant inbreeding depression. Of three dominance components of phenotypic variance that are defined under partial inbreeding, one was found to contribute significantly to phenotypic variance in flower size and flowering time, while the remaining two components contributed only negligibly to variation in each of the five traits considered. Computer simulations investigating selection response under the more complete genetic model for populations undergoing mixed mating indicate that, for parameter values estimated in this study, selection response can be substantially slowed relative to predictions for a random mating population. Moreover, inbreeding depression alone does not generally account for the reduction in selection response. PMID:9832540

  4. Genetics, antisocial personality, and criminal responsibility.

    PubMed

    Dinwiddie, S H

    1996-01-01

    There is now substantial evidence that heritable biological factors play a role in the genesis of repetitive antisocial behavior. The differing conceptual frameworks of behavioral genetics and the law are described, and the implications that current research in behavioral genetics may have for assigning responsibility for unlawful behavior are discussed.

  5. Implementation and utilization of genetic testing in personalized medicine

    PubMed Central

    Abul-Husn, Noura S; Owusu Obeng, Aniwaa; Sanderson, Saskia C; Gottesman, Omri; Scott, Stuart A

    2014-01-01

    Clinical genetic testing began over 30 years ago with the availability of mutation detection for sickle cell disease diagnosis. Since then, the field has dramatically transformed to include gene sequencing, high-throughput targeted genotyping, prenatal mutation detection, preimplantation genetic diagnosis, population-based carrier screening, and now genome-wide analyses using microarrays and next-generation sequencing. Despite these significant advances in molecular technologies and testing capabilities, clinical genetics laboratories historically have been centered on mutation detection for Mendelian disorders. However, the ongoing identification of deoxyribonucleic acid (DNA) sequence variants associated with common diseases prompted the availability of testing for personal disease risk estimation, and created commercial opportunities for direct-to-consumer genetic testing companies that assay these variants. This germline genetic risk, in conjunction with other clinical, family, and demographic variables, are the key components of the personalized medicine paradigm, which aims to apply personal genomic and other relevant data into a patient’s clinical assessment to more precisely guide medical management. However, genetic testing for disease risk estimation is an ongoing topic of debate, largely due to inconsistencies in the results, concerns over clinical validity and utility, and the variable mode of delivery when returning genetic results to patients in the absence of traditional counseling. A related class of genetic testing with analogous issues of clinical utility and acceptance is pharmacogenetic testing, which interrogates sequence variants implicated in interindividual drug response variability. Although clinical pharmacogenetic testing has not previously been widely adopted, advances in rapid turnaround time genetic testing technology and the recent implementation of preemptive genotyping programs at selected medical centers suggest that personalized

  6. Human genetics: international projects and personalized medicine.

    PubMed

    Apellaniz-Ruiz, Maria; Gallego, Cristina; Ruiz-Pinto, Sara; Carracedo, Angel; Rodríguez-Antona, Cristina

    2016-03-01

    In this article, we present the progress driven by the recent technological advances and new revolutionary massive sequencing technologies in the field of human genetics. We discuss this knowledge in relation with drug response prediction, from the germline genetic variation compiled in the 1000 Genomes Project or in the Genotype-Tissue Expression project, to the phenome-genome archives, the international cancer projects, such as The Cancer Genome Atlas or the International Cancer Genome Consortium, and the epigenetic variation and its influence in gene expression, including the regulation of drug metabolism. This review is based on the lectures presented by the speakers of the Symposium "Human Genetics: International Projects & New Technologies" from the VII Conference of the Spanish Pharmacogenetics and Pharmacogenomics Society, held on the 20th and 21st of April 2015.

  7. Genetics and Personal Insurance: the Perspectives of Canadian Cancer Genetic Counselors.

    PubMed

    Lane, Michelle; Ngueng Feze, Ida; Joly, Yann

    2015-12-01

    Genetic discrimination in the context of genetic testing has been identified as a concern for symptomatic and asymptomatic individuals for more than three decades. Genetic counselors are often the health care professionals who discuss risks and benefits of genetic testing with patients, thereby making them most appropriate to address patient concerns about genetics and personal insurance (i.e., life, life as related to mortgage or group insurance, disability, critical illness and travel). A pilot study was conducted to ascertain the current practices of Canadian cancer genetic counselors in regard to their discussions with patients about genetic testing and access to personal insurance. Among the 36 counselors surveyed, 100 % reported discussing the issue of genetic testing and personal insurance with their patients. Several factors influenced the content, depth and length of these discussions including age, cancer status, family members, and patients' current and future insurance needs. Counselors reported discussing with patients the possible impact of genetic test results on access to personal insurance, possible access and use of patient genetic information by insurance companies, and whom patients should contact if they have additional questions. The most commonly reported inquiries from patients included questions about the possible impact of genetic testing on their ability to obtain insurance, and the insurability of family members. While 28 % of counselors reported having been contacted by an insurer requesting access to patient information, only one counselor was aware of or could recall the outcome of such a request. This pilot study revealed that issues concerning genetics and personal insurance are commonly discussed in Canadian cancer genetic counseling sessions. Counselors furthermore expressed a need for additional educational resources on the topic of genetics and personal insurance for themselves and their patients.

  8. Genetics and Personal Insurance: the Perspectives of Canadian Cancer Genetic Counselors.

    PubMed

    Lane, Michelle; Ngueng Feze, Ida; Joly, Yann

    2015-12-01

    Genetic discrimination in the context of genetic testing has been identified as a concern for symptomatic and asymptomatic individuals for more than three decades. Genetic counselors are often the health care professionals who discuss risks and benefits of genetic testing with patients, thereby making them most appropriate to address patient concerns about genetics and personal insurance (i.e., life, life as related to mortgage or group insurance, disability, critical illness and travel). A pilot study was conducted to ascertain the current practices of Canadian cancer genetic counselors in regard to their discussions with patients about genetic testing and access to personal insurance. Among the 36 counselors surveyed, 100 % reported discussing the issue of genetic testing and personal insurance with their patients. Several factors influenced the content, depth and length of these discussions including age, cancer status, family members, and patients' current and future insurance needs. Counselors reported discussing with patients the possible impact of genetic test results on access to personal insurance, possible access and use of patient genetic information by insurance companies, and whom patients should contact if they have additional questions. The most commonly reported inquiries from patients included questions about the possible impact of genetic testing on their ability to obtain insurance, and the insurability of family members. While 28 % of counselors reported having been contacted by an insurer requesting access to patient information, only one counselor was aware of or could recall the outcome of such a request. This pilot study revealed that issues concerning genetics and personal insurance are commonly discussed in Canadian cancer genetic counseling sessions. Counselors furthermore expressed a need for additional educational resources on the topic of genetics and personal insurance for themselves and their patients. PMID:25925606

  9. Applying personal genetic data to injury risk assessment in athletes.

    PubMed

    Goodlin, Gabrielle T; Roos, Andrew K; Roos, Thomas R; Hawkins, Claire; Beache, Sydney; Baur, Stephen; Kim, Stuart K

    2014-01-01

    Recent studies have identified genetic markers associated with risk for certain sports-related injuries and performance-related conditions, with the hope that these markers could be used by individual athletes to personalize their training and diet regimens. We found that we could greatly expand the knowledge base of sports genetic information by using published data originally found in health and disease studies. For example, the results from large genome-wide association studies for low bone mineral density in elderly women can be re-purposed for low bone mineral density in young endurance athletes. In total, we found 124 single-nucleotide polymorphisms associated with: anterior cruciate ligament tear, Achilles tendon injury, low bone mineral density and stress fracture, osteoarthritis, vitamin/mineral deficiencies, and sickle cell trait. Of these single nucleotide polymorphisms, 91% have not previously been used in sports genetics. We conducted a pilot program on fourteen triathletes using this expanded knowledge base of genetic variants associated with sports injury. These athletes were genotyped and educated about how their individual genetic make-up affected their personal risk profile during an hour-long personal consultation. Overall, participants were favorable of the program, found it informative, and most acted upon their genetic results. This pilot program shows that recent genetic research provides valuable information to help reduce sports injuries and to optimize nutrition. There are many genetic studies for health and disease that can be mined to provide useful information to athletes about their individual risk for relevant injuries.

  10. Applying Personal Genetic Data to Injury Risk Assessment in Athletes

    PubMed Central

    Goodlin, Gabrielle T.; Roos, Andrew K.; Roos, Thomas R.; Hawkins, Claire; Beache, Sydney; Baur, Stephen; Kim, Stuart K.

    2015-01-01

    Recent studies have identified genetic markers associated with risk for certain sports-related injuries and performance-related conditions, with the hope that these markers could be used by individual athletes to personalize their training and diet regimens. We found that we could greatly expand the knowledge base of sports genetic information by using published data originally found in health and disease studies. For example, the results from large genome-wide association studies for low bone mineral density in elderly women can be re-purposed for low bone mineral density in young endurance athletes. In total, we found 124 single-nucleotide polymorphisms associated with: anterior cruciate ligament tear, Achilles tendon injury, low bone mineral density and stress fracture, osteoarthritis, vitamin/mineral deficiencies, and sickle cell trait. Of these single nucleotide polymorphisms, 91% have not previously been used in sports genetics. We conducted a pilot program on fourteen triathletes using this expanded knowledge base of genetic variants associated with sports injury. These athletes were genotyped and educated about how their individual genetic make-up affected their personal risk profile during an hour-long personal consultation. Overall, participants were favorable of the program, found it informative, and most acted upon their genetic results. This pilot program shows that recent genetic research provides valuable information to help reduce sports injuries and to optimize nutrition. There are many genetic studies for health and disease that can be mined to provide useful information to athletes about their individual risk for relevant injuries. PMID:25919592

  11. Behavioral genetics and evolutionary psychology: unified perspective on personality research.

    PubMed

    Segal, N L; MacDonald, K B

    1998-04-01

    Behavioral geneticists and evolutionary psychologists have generally pursued human behavioral analyses with little theoretical or methodological exchange. However, significant benefits might accrue from increased communication between these disciplines. The primary goals of this article are (1) to identify meaningful junctures between behavioral genetics and evolutionary psychology, (2) to describe behavioral genetic research designs and their applications to evolutionary analyses, and (3) to reassess current personality research in light of behavioral genetic and evolutionary concepts and techniques. The five-factor model of personality is conceptualized as subsuming variation in normative species-typical systems with adaptive functions in the human environment of evolutionary adaptation. Considered as universal evolved mechanisms, personality systems are often seen in dynamic conflict within individuals and as highly compartmentalized in their functioning between settings. However, genetically influenced individual differences in personality may also be understood within an evolutionary framework. Studies of the heritability of personality traits indicate broad-sense heritabilities in the 0.40-0.50 range with evidence of substantial nonadditive genetic variation and nonshared environmental influences. Evidence indicates that evolutionary theory (e.g., inclusive fitness theory) predicts patterns of social interaction (e.g., cooperation and bereavement) in relatives. Furthermore, variation in personality may constitute a range of viable strategies matching the opportunities available in the complex niche environment of human societies. Within this wide range of viable strategies, personality variation functions as a resource environment for individuals in the sense that personality variation is evaluated according to the interests of the evaluator (e.g., friendships, coalitions, or mate choice).

  12. The development of human genetics in Germany; a personal view.

    PubMed

    Vogel, F

    2005-07-01

    A personal account is given of the reconstruction and development of human genetics in Germany during the years following World War 2. An important stimulus was funding, as a result of the recognition of the genetic hazards of atomic radiation. Starting from 1960, human genetics institutes were progressively established throughout West Germany; comparable development was later in East Germany because of political factors. The first genetic counselling units were formed in 1972, but molecular biology only became an integral part of human genetics institutes at a relatively late stage. Close international links have characterised post-war human genetics in Germany from the outset and a tradition of close links with developing countries has also been established.

  13. Personality traits as intermediary phenotypes in suicidal behavior: genetic issues.

    PubMed

    Baud, Patrick

    2005-02-15

    A genetic contribution to the risk of suicidal behavior is now supported by many studies. It probably involves specific factors acting on their own, independently of the genetic transmission of associated psychiatric disorders. A history of childhood maltreatment, adverse events, psychosocial stress, psychological traits and major psychiatric disorders all appear to contribute to the global risk of suicide attempt or completion. The interplay between previously identified risk factors, different as they are in nature and degree of complexity, still remains to be clarified. A stress-diathesis model has been proposed, where trait-like genetic and developmental risk factors (the diathesis) interact through still unknown mechanisms with actual (stress-related) factors to create the conditions for a suicidal gesture. Disentangling the effects of these risk factors, and specifically the effects of the genetic factors influencing these different pathological conditions, appears to be a difficult task. Indeed the results of candidate gene association studies suggest that genetic vulnerability factors for various related psychiatric phenotypes (major psychiatric disorders and personality traits) partly overlap with more specific factors predisposing to suicidal behavior. Personality traits are partly under genetic control and may be closer to the genetic effects than psychiatric syndromes. We review here the available data on the genetics of personality traits presumably involved in suicidal behavior, focusing on the association studies carried out with serotonin-related genes. We suggest that future studies on the genetic vulnerability to suicidal behavior should include the investigation of endophenotypes, with the aim of deciphering the mechanisms underlying the genetic susceptibility to these closely associated phenotypes.

  14. Additive and nonadditive genetic variation in avian personality traits.

    PubMed

    van Oers, K; Drent, P J; de Jong, G; van Noordwijk, A J

    2004-11-01

    Individuals of all vertebrate species differ consistently in their reactions to mildly stressful challenges. These typical reactions, described as personalities or coping strategies, have a clear genetic basis, but the structure of their inheritance in natural populations is almost unknown. We carried out a quantitative genetic analysis of two personality traits (exploration and boldness) and the combination of these two traits (early exploratory behaviour). This study was carried out on the lines resulting from a two-directional artificial selection experiment on early exploratory behaviour (EEB) of great tits (Parus major) originating from a wild population. In analyses using the original lines, reciprocal F(1) and reciprocal first backcross generations, additive, dominance, maternal effects ands sex-dependent expression of exploration, boldness and EEB were estimated. Both additive and dominant genetic effects were important determinants of phenotypic variation in exploratory behaviour and boldness. However, no sex-dependent expression was observed in either of these personality traits. These results are discussed with respect to the maintenance of genetic variation in personality traits, and the expected genetic structure of other behavioural and life history traits in general.

  15. Personality and coping with professional demands: a behavioral genetics analysis.

    PubMed

    Maas, Heike; Spinath, Frank M

    2012-07-01

    Work-related mental health problems lead to individual ill-being but also absenteeism and early retirement from work. As such, it is desirable to diagnose strain and coping deficits before mental or physical symptoms occur in order to provide interventions early. Work engagement, resistance to stress, and occupational attitude toward life are three facets of coping with professional demands that are related to psychological health (Kieschke & Schaarschmidt, 2003). Personality, defined as characteristic patterns of thoughts, feelings, and behaviors over time and across situations, is also associated with health and well-being. To understand who becomes ill and why and to provide adequate interventions, we investigated the relations between personality and coping with professional demands, as well as the etiological basis of this relation. Personality and coping with professional demands (work engagement, resistance to stress, and occupational attitude toward life) were assessed in a sample of 302 monozygotic and dizygotic adult twin pairs. Correlations between personality and coping with professional demands were moderate (r range: -0.61 to 0.37). All scales except occupational attitude toward life showed significant heritabilities. Genetic and environmental influences on coping with professional demands were largely independent of genetic and environmental effects on personality. These findings suggest that interventions should focus on work engagement, resistance to stress, and occupational attitude toward life without specific considering of personality.

  16. The personal genome browser: visualizing functions of genetic variants.

    PubMed

    Juan, Liran; Teng, Mingxiang; Zang, Tianyi; Hao, Yafeng; Wang, Zhenxing; Yan, Chengwu; Liu, Yongzhuang; Li, Jie; Zhang, Tianjiao; Wang, Yadong

    2014-07-01

    Advances in high-throughput sequencing technologies have brought us into the individual genome era. Projects such as the 1000 Genomes Project have led the individual genome sequencing to become more and more popular. How to visualize, analyse and annotate individual genomes with knowledge bases to support genome studies and personalized healthcare is still a big challenge. The Personal Genome Browser (PGB) is developed to provide comprehensive functional annotation and visualization for individual genomes based on the genetic-molecular-phenotypic model. Investigators can easily view individual genetic variants, such as single nucleotide variants (SNVs), INDELs and structural variations (SVs), as well as genomic features and phenotypes associated to the individual genetic variants. The PGB especially highlights potential functional variants using the PGB built-in method or SIFT/PolyPhen2 scores. Moreover, the functional risks of genes could be evaluated by scanning individual genetic variants on the whole genome, a chromosome, or a cytoband based on functional implications of the variants. Investigators can then navigate to high risk genes on the scanned individual genome. The PGB accepts Variant Call Format (VCF) and Genetic Variation Format (GVF) files as the input. The functional annotation of input individual genome variants can be visualized in real time by well-defined symbols and shapes. The PGB is available at http://www.pgbrowser.org/. PMID:24799434

  17. Education and personalized genomics: deciphering the public's genetic health report

    PubMed Central

    Lamb, Neil E; Myers, Richard M; Gunter, Chris

    2010-01-01

    Where do members of the public turn to understand what genetic tests mean in terms of their own health? Now that genome-wide association studies and complete genome sequencing are widely available, the importance of education in personalized genomics cannot be overstated. Although some media have introduced the concept of genetic testing to better understand health and disease, the public's understanding of the scope and impact of genetic variation has not kept up with the pace of the science or technology. Unfortunately, the likely sources to which the public turn to for guidance – their physician and the media – are often no better prepared. We examine several venues for information, including print and online guides for both lay and health-oriented audiences, and summarize selected resources in multiple formats. We also note on the roadblocks to progress and discuss ways to remove them, as urgent action is needed to connect people with their genomes in a meaningful way. PMID:20161675

  18. Testing a model for the genetic structure of personality: a comparison of the personality systems of Cloninger and Eysenck.

    PubMed

    Heath, A C; Cloninger, C R; Martin, N G

    1994-04-01

    Genetic analysis of data from 2,680 adult Australian twin pairs demonstrated significant genetic contributions to variation in scores on the Harm Avoidance, Novelty Seeking, and Reward Dependence scales of Cloninger's Tridimensional Personality Questionnaire (TPQ), accounting for between 54% and 61% of the stable variation in these traits. Multivariate genetic triangular decomposition models were fitted to determine the extent to which the TPQ assesses the same dimensions of heritable variation as the revised Eysenck Personality Questionnaire. These analyses demonstrated that the personality systems of Eysenck and Cloninger are not simply alternative descriptions of the same dimensions of personality, but rather each provide incomplete descriptions of the structure of heritable personality differences.

  19. Toward a genetically-informed model of borderline personality disorder.

    PubMed

    Livesley, John

    2008-02-01

    This article describes a conceptual framework for describing borderline personality disorder (BPD) based on empirical studies of the phenotypic structure and genetic architecture of personality. The proposed phenotype has 2 components: (1) a description of core self and interpersonal pathology-the defining features of personality disorder-as these features are expressed in the disorder; and (2) a set of traits based on the anxious-dependent or emotional dysregulation factor of the four-factor model of PD. Four kinds of traits are described: emotional (anxiousness, emotional reactivity, emotional intensity, and pessimistic-anhedonia), interpersonal (submissiveness, insecure attachment, social apprehensiveness, and need for approval), cognitive (cognitive dysregulation), and self-harm (behaviors and ideas). Formulation of the phenotype was guided by the conceptualization of personality as a system of interrelated sub-systems. The psychopathology associated with BPD involves most components of the system. The trait structure of the disorder is assumed to reflect the genetic architecture of personality and individual traits are assumed to be based on adaptive mechanisms. It is suggested that borderline traits are organized around the trait of anxiousness and that an important feature of BPD is dysregulation of the threat management system leading to pervasive fearfulness and unstable emotions. The interpersonal traits are assumed to be heritable characteristics that evolved to deal with interpersonal threats that arose as a result of social living. The potential for unstable and conflicted interpersonal relationships that is inherent to the disorder is assumed to result from the interplay between the adaptive structure of personality and psychosocial adversity. The etiology of the disorder is discussed in terms of biological and environmental factors associated with each component of the phenotype.

  20. Genetic, environmental, and epigenetic factors in the development of personality disturbance.

    PubMed

    Depue, Richard A

    2009-01-01

    A dimensional model of personality disturbance is presented that is defined by extreme values on interacting subsets of seven major personality traits. Being at the extreme has marked effects on the threshold for eliciting those traits under stimulus conditions: that is, the extent to which the environment affects the neurobiological functioning underlying the traits. To explore the nature of development of extreme values on these traits, each trait is discussed in terms of three major issues: (a) the neurobiological variables associated with the trait, (b) individual variation in this neurobiology as a function of genetic polymorphisms, and (c) the effects of environmental adversity on these neurobiological variables through the action of epigenetic processes. It is noted that gene-environment interaction appears to be dependent on two main factors: (a) both genetic and environmental variables appear to have the most profound and enduring effects when they exert their effects during early postnatal periods, times when the forebrain is undergoing exuberant experience-expectant dendritic and axonal growth; and (b) environmental effects on neurobiology are strongly modified by individual differences in "traitlike" functioning of neurobiological variables. A model of the nature of the interaction between environmental and neurobiological variables in the development of personality disturbance is presented.

  1. Personal abilities in patients undergoing peritoneal dialysis and hemodialysis. A pilot study using the existence scale.

    PubMed

    Schwaiger, Johannes P; Kopriva-Altfahrt, Gertrude; Söllner, Wolfgang; König, Paul

    2007-01-01

    Personality psychology is increasingly used in various clinical medicine settings to help in decision-making in difficult situations, especially in chronic disease. Patients with chronic renal disease are very dependent on modern medicine, and psychological aspects could help give answers in certain circumstances. Logotherapy and Existence analysis, after Viktor Frankl (Third Viennese School of Psychotherapy), is the theory of the possibilities and conditions for a fulfilled existence and evaluates a different aspect of personality psychology, namely meaning (in life). We used the existence scale questionnaire in this pilot study to investigate the personal abilities self-distancing, self-transcendence, freedom and responsibility in dialysis patients and compared a group of hemodialysis (HD) patients with patients treated with continuous ambulatory peritoneal dialysis (CAPD). We studied a mixed dialysis cohort (24 HD, 24 CAPD) at two Austrian centers (Innsbruck Medical University Hospital and Wilhelminenspital of the City of Vienna). Overall, results for dialysis patients (n = 48) were very close to those reported for healthy persons; however, CAPD patients scored significantly better than HD patients (p = 0.017) on the subscale self-distancing. This significant difference was also seen in the overall scores (p = 0.045). Our results might indicate that contented CAPD patients have personal abilities that predestine them for this type of treatment. The existence scale might help decide between CAPD and HD treatment alternatives.

  2. Genetics and Vaccines in the Era of Personalized Medicine

    PubMed Central

    Castiblanco, John; Anaya, Juan-Manuel

    2015-01-01

    Vaccines represent the most successful and sustainable tactic to prevent and counteract infection. A vaccine generally improves immunity to a particular disease upon administration by inducing specific protective and efficient immune responses in all of the receiving population. The main known factors influencing the observed heterogeneity for immune re-sponses induced by vaccines are gender, age, co-morbidity, immune system, and genetic background. This review is mainly focused on the genetic status effect to vaccine immune responses and how this could contribute to the development of novel vaccine candidates that could be better directed and predicted relative to the genetic history of an individual and/or population. The text offers a brief history of vaccinology as a field, a description of the genetic status of the most relevant and studied genes and their functionality and correlation with exposure to specific vaccines; followed by an inside look into autoimmunity as a concern when designing vaccines as well as perspectives and conclusions looking towards an era of personalized and predictive vaccinology instead of a one size fits all approach. PMID:25937813

  3. Adopting Genetics: Motivations and Outcomes of Personal Genomic Testing in Adult Adoptees

    PubMed Central

    Baptista, Natalie M.; Christensen, Kurt D.; Carere, Deanna Alexis; Broadley, Simon A.; Roberts, J. Scott; Green, Robert C.

    2015-01-01

    Purpose American adult adoptees may possess limited amounts of information about their biological families and turn to direct-to-consumer personal genomic testing (PGT) for genealogical and medical information. We investigated the motivations and outcomes of adoptees undergoing PGT using data from the Impact of Personal Genomics (PGen) Study. Methods The PGen Study surveyed new 23andMe and Pathway Genomics customers prior to and 6 months after receiving PGT results. Exploratory analyses compared adoptees’ and non-adoptees’ PGT attitudes, expectations, and experiences. We evaluated the association of adoption status with motivations for testing and post-disclosure actions using logistic regression models. Results Of 1607 participants, 80 (5%) were adopted. As compared to non-adoptees, adoptees were more likely to cite limited family health history knowledge (OR = 10.1; 95% CI = 5.7–19.5) and the opportunity to learn genetic disease risks (OR = 2.7; 95% CI = 1.6–4.8) as strong motivations for PGT. Of 922 participants who completed 6-month follow-up, there was no significant association between adoption status and PGT-motivated healthcare utilization or health behavior change. Conclusion PGT allows adoptees to gain otherwise inaccessible information about their genetic disease risks and ancestry, helping them to fill the void of an incomplete family health history. PMID:26820063

  4. Personality Stability and Change in Early Adulthood: A Behavioral Genetic Analysis.

    ERIC Educational Resources Information Center

    McGue, Matt; And Others

    1993-01-01

    A total of 127 pairs of twins completed a measure of personality at 20 and 30 years of age. Analyses revealed that variance in negative emotionality was the result of diminishing genetic influence; personality stability was the result of genetic factors; and personality change was the result of environmental factors. (BC)

  5. Evaluation of prognostic significance of granulocyte-related factors in cancer patients undergoing personalized peptide vaccination

    PubMed Central

    Sakamoto, Shinjiro; Yoshitomi, Munehiro; Yutani, Shigeru; Terazaki, Yasuhiro; Yoshiyama, Koichi; Ioji, Tetsuya; Matsueda, Satoko; Yamada, Akira; Takamori, Shinzo; Itoh, Kyogo; Hattori, Noboru; Kohno, Nobuoki; Sasada, Tetsuro

    2015-01-01

    Since cancer vaccines do not always elicit beneficial effects in treated patients, identification of biomarkers for predicting clinical outcomes would be highly desirable. We previously reported that abnormal granulocytes present in peripheral blood mononuclear cells (PBMC) may contribute to poor prognosis in advanced prostate cancer patients receiving personalized peptide vaccination (PPV). In the current study, we examined whether soluble factors derived from granulocytes, such as matrix metalloproteinase 9 (MMP-9), myeloperoxidase (MPO), and arginase 1 (ARG1), and inhibitory cytokine TGFβ in pre-vaccination plasma were useful for predicting prognosis after PPV in advanced cancer patients. In biliary tract cancer (n=25), multivariate Cox regression analysis demonstrated that patients with higher plasma MMP-9 levels had a significantly worse overall survival (OS) [hazard ratio (HR) = 4.637, 95% confidence interval (CI) = 1.670 - 12.877, P = 0.003], whereas MPO, ARG1, or TGFβ levels were not correlated with OS. Similarly, patients with higher MMP-9 levels showed worse prognosis than those with lower MMP-9 levels in other types of advanced cancers, including non-small cell lung cancer (n=32, P = 0.037 by log-rank test), and pancreatic cancer (n=41, P = 0.042 by log-rank test). Taken together, plasma MMP-9 levels before vaccination might be potentially useful as a biomarker for selecting advanced cancer patients who would benefit from PPV. PMID:26325075

  6. The impact of information order on intentions to undergo predictive genetic testing: an experimental study.

    PubMed

    Morrison, Val; Henderson, Bethan J; Taylor, Caroline; A'Ch Dafydd, Nonn; Unwin, Abbie

    2010-10-01

    As predictive genetic testing availability increases so does our need to understand factors associated with test uptake. This study tests whether the order positive and negative information about genetic testing for breast cancer is presented in affects intention to take a genetic test. Eighty-four women were randomly allocated into three groups: (1) positive then negative information; (2) negative then positive information; and (3) a control group. A significant effect was found in relation to perceived risk, attitudes towards genetic testing, perceived disadvantages of testing and intention. Our findings point to a primacy effect, whereby information presented first has the greatest effect.

  7. Breath isoprene concentrations in persons undergoing general anesthesia and in healthy volunteers.

    PubMed

    Hornuss, Cyrill; Zagler, Armin; Dolch, Michael E; Wiepcke, Dirk; Praun, Siegfried; Boulesteix, Anne-Laure; Weis, Florian; Apfel, Christian C; Schelling, Gustav

    2012-12-01

    Human breath contains an abundance of volatile organic compounds (VOCs). Analysis of breath VOC may be used for diagnosis of various diseases or for on-line monitoring in anesthesia and intensive care. However, VOC concentrations largely depend on the breath sampling method and have a large inter-individual variability. For the development of breath tests, the influence of breath sampling methods and study subject characteristics on VOC concentrations has to be known. Therefore, we investigated the VOC isoprene in 62 study subjects during anesthesia and 16 spontaneously breathing healthy volunteers to determine (a) the influence of artificial and spontaneous ventilation and (b) the influence of study subject characteristics on breath isoprene concentrations. We used ion molecule reaction mass spectrometry for high-resolution breath-by-breath analysis of isoprene. We found that persons during anesthesia had significantly increased inspiratory and end-expiratory isoprene breath concentrations. Measured isoprene concentrations (median [first quartile-third quartile]) were in the anesthesia group: 54 [40-79] ppb (inspiratory) and 224 [171-309] ppb (end-expiratory), volunteer group: 14 [11-17] ppb (inspiratory) and 174 [124-202] ppb (end-expiratory). Higher end-tidal CO(2) concentrations in ventilated subjects were associated with higher expiratory isoprene levels. Furthermore, inspiratory and end-expiratory isoprene concentrations were correlated during anesthesia (r = 0.603, p < 0.001). Multivariate analysis showed that men had significantly higher end-expiratory isoprene concentrations than women. Rebreathing of isoprene from the anesthesia machine possibly accounts for the observed increase in isoprene in the anesthesia group.

  8. Colorectal cancer survivors undergoing genetic testing for hereditary non-polyposis colorectal cancer: motivational factors and psychosocial functioning.

    PubMed

    Esplen, M J; Madlensky, L; Aronson, M; Rothenmund, H; Gallinger, S; Butler, K; Toner, B; Wong, J; Manno, M; McLaughlin, J

    2007-11-01

    Hereditary non-polyposis colorectal cancer (HNPCC) represents about 1-3% of all cases of colorectal cancer (CRC). The objectives of the study were to examine motivational factors, expectations and psychosocial functioning in a sample of CRC survivors undergoing genetic testing for HNPCC. A cross-sectional survey of 314 colorectal cancer patients recruited through a population-based colon cancer family registry was conducted. Motivations for genetic testing for hereditary cancer were similar to those of clinic-based samples of CRC patients and included learning of the increased risk to offspring and finding out if additional screening was needed. While age at diagnosis and sex were associated with psychological functioning, significant predictors of post-counseling distress were perceived lower satisfaction with social support, an escape-avoidant coping style and the anticipation of becoming depressed if a mutation was present. Most cancer survivors anticipated disclosing test results to relatives and physicians. Cancer survivors reported several motivations for genetic testing for HNPCC that varied by sex. A subgroup of survivors with lower satisfaction with social support and an escape-avoidant coping style were worried about the potential impact of genetic test results and demonstrated more distress following counseling. Findings have implications for future research and potential support needs during the genetic counseling and testing process. PMID:17892499

  9. Cancer subclonal genetic architecture as a key to personalized medicine.

    PubMed

    Rehemtulla, Alnawaz

    2013-12-01

    The future of personalized oncological therapy will likely rely on evidence-based medicine to integrate all of the available evidence to delineate the most efficacious treatment option for the patient. To undertake evidence-based medicine through use of targeted therapy regimens, identification of the specific underlying causative mutation(s) driving growth and progression of a patient's tumor is imperative. Although molecular subtyping is important for planning and treatment, intraclonal genetic diversity has been recently highlighted as having significant implications for biopsy-based prognosis. Overall, delineation of the clonal architecture of a patient's cancer and how this will impact on the selection of the most efficacious therapy remain a topic of intense interest.

  10. Genetics of personalities: no simple answers for complex traits.

    PubMed

    Tschirren, Barbara; Bensch, Staffan

    2010-02-01

    Identifying the genes that underlie phenotypic variation in natural populations, and assessing the consequences of polymorphisms at these loci for individual fitness are major objectives in evolutionary biology. Yet, with the exception of a few success stories, little progress has been made, and our understanding of the link between genotype and phenotype is still in its infancy. For example, although body length in humans is largely genetically determined, with heritability estimates greater than 0.8, massive genome-wide association studies (GWAS) have only been able to account for a very small proportion of this variation (Gudbjartsson et al. 2008). If it is so difficult to explain the genetics behind relatively 'simple' traits, can we envision that it will at all be possible to find genes underlying complex behavioural traits in wild non-model organisms? Some notable examples suggest that this can indeed be a worthwhile endeavour. Recently, the circadian rhythm gene Clock has been associated with timing of breeding in a wild blue tit population (Johnsen et al. 2007; Liedvogel et al. 2009) and the Pgi gene to variation in dispersal and flight endurance in Glanville fritillary butterflies (Niitepold et al. 2009). A promising candidate gene for influencing complex animal personality traits, also known as behavioural syndromes (Sih et al. 2004), is the dopamine receptor D4 (DRD4) gene. Within the last decade, polymorphisms in this gene have been associated with variation in novelty seeking and exploration behaviour in a range of species, from humans to great tits (Schinka et al. 2002; Fidler et al. 2007). In this issue, Korsten et al. (2010) attempt to replicate this previously observed association in wild-living birds, and test for the generality of the association between DRD4 and personality across a number of European great tit populations.

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

    PubMed

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

    2016-02-01

    Growing demand for and limited geographic access to genetic counseling services is increasing the need for alternative service delivery models (SDM) like telephone genetic counseling (TGC). Little research has been done on genetic counselors' perspectives of the practice of TGC. We created an anonymous online survey to assess whether telephone genetic counselors believed the tasks identified in the ABGC (American Board of Genetic Counseling) Practice Analysis were performed similarly or differently in TGC compared to in person genetic counseling (IPGC). If there were differences noted, we sought to determine the nature of the differences and if additional training might be needed to address them. Eighty eight genetic counselors with experience in TGC completed some or all of the survey. Respondents identified differences in 13 (14.8%) of the 88 tasks studied. The tasks identified as most different in TGC were: "establishing rapport through verbal and nonverbal interactions" (60.2%; 50/83 respondents identified the task as different), "recognizing factors affecting the counseling interaction" (47.8%; 32/67), "assessing client/family emotions, support, etc." (40.1%; 27/66) and "educating clients about basic genetic concepts" (35.6%; 26/73). A slight majority (53.8%; 35/65) felt additional training was needed to communicate information without visual aids and more effectively perform psychosocial assessments. In summary, although a majority of genetic counseling tasks are performed similarly between TGC and IPGC, TGC counselors recognize that specific training in the TGC model may be needed to address the key differences. PMID:26044544

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

    PubMed

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

    2016-02-01

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

  13. Modelling decisions to undergo genetic testing for susceptibility to common health conditions: an ancillary study of the Multiplex Initiative.

    PubMed

    Wade, Christopher H; Shiloh, Shoshana; Woolford, Samuel W; Roberts, J Scott; Alford, Sharon Hensley; Marteau, Theresa M; Biesecker, Barbara B

    2012-01-01

    New genetic tests reveal risks for multiple conditions simultaneously, although little is understood about the psychological factors that affect testing uptake. We assessed a conceptual model called the multiplex genetic testing model (MGTM) using structural equation modelling. The MGTM delineates worry, perceived severity, perceived risk, response efficacy and attitudes towards testing as predictors of intentions and behaviour. Participants were 270 healthy insured adults aged 25-40 from the Multiplex Initiative conducted within a health care system in Detroit, MI, USA. Participants were offered a genetic test that assessed risk for eight common health conditions. Confirmatory factor analysis revealed that worry, perceived risk and severity clustered into two disease domains: cancer or metabolic conditions. Only perceived severity of metabolic conditions was correlated with general response efficacy (β = 0.13, p<0.05), which predicted general attitudes towards testing (β = 0.24, p<0.01). Consistent with our hypothesised model, attitudes towards testing were the strongest predictors of intentions to undergo testing (β = 0.49, p<0.01), which in turn predicted testing uptake (OR 17.7, β = 0.97, p<0.01). The MGTM explained a striking 48% of the variance in intentions and 94% of the variation in uptake. These findings support use of the MGTM to explain psychological predictors of testing for multiple health conditions. PMID:21660870

  14. A behavioral genetic study of the overlap between personality and parenting.

    PubMed

    Spinath, Frank M; O'Connor, Thomas G

    2003-10-01

    The current study had three aims. The first was to examine the covariation between personality of parents and parenting behaviors. The second aim was to examine the genetic and environmental influences on parenting behaviors. The third aim was to examine the extent to which the association between personality and parenting was mediated by genetic and environmental factors. Personality (Five Factor Model, NEO-FFI) and parenting data were collected as part of a larger German study of 300 adult twin pairs (GOSAT). The current paper analyzes data on a subset of the 300 twin pairs from the GOSAT sample who were concordant for having children (n=98 pairs or 196 individuals). Results indicated modest overlap between personality and parenting. In addition, univariate behavioral genetic analyses indicated moderate genetic influence on select parenting dimensions. Results also indicated that the moderate phenotypic covariation between personality and parenting was attributed largely to nongenetic factors. Implications of the findings for research on parenting and personality are considered.

  15. The genetic links between the big five personality traits and general interest domains.

    PubMed

    Kandler, Christian; Bleidorn, Wiebke; Riemann, Rainer; Angleitner, Alois; Spinath, Frank M

    2011-12-01

    This is the first genetically informative study in which multiple informants were used to quantify the genetic and environmental sources of individual differences in general interests as well as the phenotypic and genetic links between general interests and Big Five personality traits. Self-reports and two peer ratings from 844 individuals, including 225 monozygotic and 113 dizygotic complete twin pairs, were collected. Multiple-rater scores (composites) revealed that the averaged levels of genetic and environmental effects on seven broad interest domains were similar to those on personality traits. Multivariate analyses showed that about 35% of the genetic and 9% of the environmental variance in interests were explained by personality domains, in particular by Openness. The findings suggest that interests cannot easily be considered as a byproduct of the interactions between personality genotypes and the environmental influences but rather as an internal regulation of behavior with an own genetic basis.

  16. Constraints on decision making: implications from genetics, personality, and addiction.

    PubMed

    Baker, Travis E; Stockwell, Tim; Holroyd, Clay B

    2013-09-01

    An influential neurocomputational theory of the biological mechanisms of decision making, the "basal ganglia go/no-go model," holds that individual variability in decision making is determined by differences in the makeup of a striatal system for approach and avoidance learning. The model has been tested empirically with the probabilistic selection task (PST), which determines whether individuals learn better from positive or negative feedback. In accordance with the model, in the present study we examined whether an individual's ability to learn from positive and negative reinforcement can be predicted by genetic factors related to the midbrain dopamine system. We also asked whether psychiatric and personality factors related to substance dependence and dopamine affect PST performance. Although we found characteristics that predicted individual differences in approach versus avoidance learning, these observations were qualified by additional findings that appear inconsistent with the predictions of the go/no-go model. These results highlight a need for future research to validate the PST as a measure of basal ganglia reward learning. PMID:23658007

  17. Constraints on decision making: implications from genetics, personality, and addiction.

    PubMed

    Baker, Travis E; Stockwell, Tim; Holroyd, Clay B

    2013-09-01

    An influential neurocomputational theory of the biological mechanisms of decision making, the "basal ganglia go/no-go model," holds that individual variability in decision making is determined by differences in the makeup of a striatal system for approach and avoidance learning. The model has been tested empirically with the probabilistic selection task (PST), which determines whether individuals learn better from positive or negative feedback. In accordance with the model, in the present study we examined whether an individual's ability to learn from positive and negative reinforcement can be predicted by genetic factors related to the midbrain dopamine system. We also asked whether psychiatric and personality factors related to substance dependence and dopamine affect PST performance. Although we found characteristics that predicted individual differences in approach versus avoidance learning, these observations were qualified by additional findings that appear inconsistent with the predictions of the go/no-go model. These results highlight a need for future research to validate the PST as a measure of basal ganglia reward learning.

  18. Getting a head start: the importance of personal genetics education in high schools.

    PubMed

    Kung, Johnny T; Gelbart, Marnie E

    2012-03-01

    With advances in sequencing technology, widespread and affordable genome sequencing will soon be a reality. However, studies suggest that "genetic literacy" of the general public is inadequate to prepare our society for this unprecedented access to our genetic information. As the current generation of high school students will come of age in an era when personal genetic information is increasingly utilized in health care, it is of vital importance to ensure these students understand the genetic concepts necessary to make informed medical decisions. These concepts include not only basic scientific knowledge, but also considerations of the ethical, legal, and social issues that will arise in the age of personal genomics. In this article, we review the current state of genetics education, highlight issues that we believe need to be addressed in a comprehensive genetics education curriculum, and describe our education efforts at the Harvard Medical School-based Personal Genetics Education Project.

  19. Genetic and environmental bases of the interplay between magical ideation and personality.

    PubMed

    Brambilla, Paolo; Fagnani, Corrado; Cecchetto, Filippo; Medda, Emanuela; Bellani, Marcella; Salemi, Miriam; Picardi, Angelo; Stazi, Maria Antonietta

    2014-02-28

    Sub-threshold psychotic symptoms are quite commonly present in general population. Among these, Magical Ideation (MI) has been proved to be a valid predictor of psychosis. However, the genetic and environmental influences on the interplay between MI and personality have not fully been explored. A total of 534 adult twins from the population-based Italian Twin Register were assessed for MI using the MI Scale (MIS) and for personality with the temperament and character inventory (TCI). A Multivariate Cholesky model was applied with Mx statistical program. The best-fitting model showed that additive genetic and unshared environmental factors explain approximately the same proportion of variance in MI, whereas a less strong genetic influence on personality traits emerged. Relevant correlations between MI and specific personality traits (novelty seeking, cooperativeness, self-directedness, self-transcendence) were found, suggesting shared influences for MI and these traits. Both genetic and environmental factors explained these correlations, with genetic factors playing a predominant role. Moderate-to-substantial genetic effects on MI and personality were found. Shared genetic and environmental effects underlie the phenotypic correlation between MI (psychosis-proneness) and personality traits, i.e. self-directedness (negative association) and self-transcendence (positive association), potentially representing predictive markers of psychosis liability related to schizotypy and personality.

  20. Familial Resemblance of Borderline Personality Disorder Features: Genetic or Cultural Transmission?

    PubMed Central

    Distel, Marijn A.; Rebollo-Mesa, Irene; Willemsen, Gonneke; Derom, Catherine A.; Trull, Timothy J.; Martin, Nicholas G.; Boomsma, Dorret I.

    2009-01-01

    Borderline personality disorder is a severe personality disorder for which genetic research has been limited to family studies and classical twin studies. These studies indicate that genetic effects explain 35 to 45% of the variance in borderline personality disorder and borderline personality features. However, effects of non-additive (dominance) genetic factors, non-random mating and cultural transmission have generally not been explored. In the present study an extended twin-family design was applied to self-report data of twins (N = 5,017) and their siblings (N = 1,266), parents (N = 3,064) and spouses (N = 939) from 4,015 families, to estimate the effects of additive and non-additive genetic and environmental factors, cultural transmission and non-random mating on individual differences in borderline personality features. Results showed that resemblance among biological relatives could completely be attributed to genetic effects. Variation in borderline personality features was explained by additive genetic (21%; 95% CI 17–26%) and dominant genetic (24%; 95% CI 17–31%) factors. Environmental influences (55%; 95% CI 51–60%) explained the remaining variance. Significant resemblance between spouses was observed, which was best explained by phenotypic assortative mating, but it had only a small effect on the genetic variance (1% of the total variance). There was no effect of cultural transmission from parents to offspring. PMID:19390632

  1. Quantitative genetics of behavioural reaction norms: genetic correlations between personality and behavioural plasticity vary across stickleback populations.

    PubMed

    Dingemanse, N J; Barber, I; Wright, J; Brommer, J E

    2012-03-01

    Behavioural ecologists have proposed various evolutionary mechanisms as to why different personality types coexist. Our ability to understand the evolutionary trajectories of personality traits requires insights from the quantitative genetics of behavioural reaction norms. We assayed > 1000 pedigreed stickleback for initial exploration behaviour of a novel environment, and subsequent changes in exploration over a few hours, representing their capacity to adjust their behaviour to changes in perceived novelty and risk. We found heritable variation in both the average level of exploration and behavioural plasticity, and population differences in the sign of the genetic correlation between these two reaction norm components. The phenotypic correlation was not a good indicator of the genetic correlation, implying that quantitative genetics are necessary to appropriately evaluate evolutionary hypotheses in cases such as these. Our findings therefore have important implications for future studies concerning the evolution of personality and plasticity.

  2. The genetic and environmental basis of the relationship between schizotypy and personality: a twin study.

    PubMed

    Jang, Kerry L; Woodward, Todd S; Lang, Donna; Honer, William G; Livesley, W John

    2005-03-01

    The clinical phenotype commonly referred to as schizotypy is used in two different ways in psychiatric practice. One usage emphasizes psychosis-proneness where schizotypy is considered part of the schizophrenia spectrum. The other emphasizes personality aberrations and is classed as a personality disorder. The present study provides evidence that schizotypy is a unitary construct and that features like schizophrenia and personality share a common genetic basis. A sample of 102 monozygotic and 90 dizygotic general population twin pairs completed measures of psychosis-proneness and traits delineating personality disorder. Multivariate genetic analyses showed that the observed relationship between psychotic and personality features is caused almost entirely by common genetic factors. Environmental factors appear to be unique to each measure. On the basis of these findings, it is suggested that the environment mediates change in personality function to psychosis as proposed by Meehl's original concept of schizotaxia.

  3. Genetic simplex modeling of Eysenck's dimensions of personality in a sample of young Australian twins.

    PubMed

    Gillespie, Nathan A; Evans, David E; Wright, Margie M; Martin, Nicholas G

    2004-12-01

    The relative stability and magnitude of genetic and environmental effects underlying major dimensions of adolescent personality across time were investigated. The Junior Eysenck Personality Questionnaire was administered to over 540 twin pairs at ages 12, 14 and 16 years. Their personality scores were analyzed using genetic simplex modeling which explicitly took into account the longitudinal nature of the data. With the exception of the dimension lie, multivariate model fitting results revealed that familial aggregation was entirely explained by additive genetic effects. Results from simplex model fitting suggest that large proportions of the additive genetic variance observed at ages 14 and 16 years could be explained by genetic effects present at the age of 12 years. There was also evidence for smaller but significant genetic innovations at 14 and 16 years of age for male and female neuroticism, at 14 years for male extraversion, at 14 and 16 years for female psychoticism, and at 14 years for male psychoticism.

  4. Adolescent Personality Moderates Genetic and Environmental Influences on Relationships with Parents

    PubMed Central

    South, Susan C.; Krueger, Robert F.; Johnson, Wendy; Iacono, William G.

    2008-01-01

    In contrast to early theories of socialization which emphasized the role of parents in shaping their children's personalities, recent empirical evidence suggests an evocative relationship between adolescent personality traits and the quality of the parent-adolescent relationship. Research using behavior genetic methods suggest that the association between personality and parenting is genetically mediated, such that the genetic effects on adolescent personality traits overlap with the genetic effects on parenting behavior. In the current study, we examined whether the etiology of this relationship might change depending on the adolescent's personality. Biometrical moderation models were utilized to test for gene-environment interaction and correlation between personality traits and measures of conflict, regard, and involvement with parents in a sample of 2,452 adolescents (M age=17.79). We found significant moderation of both positive and negative qualities of the parent-adolescent relationship, such that the genetic and environmental variance in relationship quality varied as functions of the adolescent's levels of personality. These findings support the importance of adolescent personality in the development of the quality of the parent-adolescent relationship. PMID:18444746

  5. Attitudes of women of advanced maternal age undergoing invasive prenatal diagnosis and the impact of genetic counselling.

    PubMed

    Godino, Lea; Pompilii, Eva; D'Anna, Federica; Morselli-Labate, Antonio M; Nardi, Elena; Seri, Marco; Rizzo, Nicola; Pilu, Gianluigi; Turchetti, Daniela

    2016-03-01

    Despite the increasing availability and effectiveness of non-invasive screening for foetal aneuploidies, most women of advanced maternal age (AMA) still opt for invasive tests. A retrospective cross-sectional survey was performed on women of AMA undergoing prenatal invasive procedures, in order to explore their motivations and the outcome of preliminary genetic counselling according to the approach (individual or group) adopted. Of 687 eligible women, 221 (32.2%) participated: 117 had received individual counselling, while 104 had attended group sessions. The two groups did not differ by socio-demographic features. The commonest reported reason to undergo invasive tests was AMA itself (67.4%), while only 10.4% of women mentioned the opportunity of making informed choices. The majority perceived as clear and helpful the information received at counselling, and only 12.7% had doubts left that, however, often concerned non-pertinent issues. The impact of counselling on risk perception and decisions was limited: a minority stated their perceived risk of foetal abnormalities had either increased (6.8%) or reduced (3.6%), and only one eventually declined invasive test. The 52.6% of women expressed a preference toward individual counselling, which also had a stronger impact on perceived risk reduction (P=0.003). Nevertheless, group counselling had a more favourable impact on both clarity of understanding and helpfulness (P=0.0497 and P=0.035, respectively). The idea that AMA represents an absolute indication for invasive tests appears deeply rooted; promotion of non-invasive techniques may require extensive educational efforts targeted to both the general population and health professionals.

  6. Genetic and environmental contributions to individual differences: the three major dimensions of personality.

    PubMed

    Eysenck, H J

    1990-03-01

    This article deals with the contribution of genetic and environmental factors to individual differences in the three major dimensions of personality (Psychoticism, Extraversion, and Neuroticism). Twin studies indicate, and family studies confirm within limits, the strong genetic determination of these and many other personality factors, additive genetic variance accounting for roughly half the total phenotypic variance. On the environmental side, shared family environment plays little or no part, all environmental effects being within-family. Assortative mating, important in the formation of social attitudes, has little impact on personality. Dominance may be important for Extraversion. Epistasis (emergenesis) may account for the comparative low values of dizygotic (DZ) twins' correlations. Evidence for differential heritability of traits is present, but not very strong. It is concluded that behavioral genetics forms a vital part of the psychological understanding of the causes of individual differences in personality.

  7. A behavioral genetic analysis of callous-unemotional traits and Big Five personality in adolescence.

    PubMed

    Mann, Frank D; Briley, Daniel A; Tucker-Drob, Elliot M; Harden, K Paige

    2015-11-01

    Callous-unemotional (CU) traits, such as lacking empathy and emotional insensitivity, predict the onset, severity, and persistence of antisocial behavior. CU traits are heritable, and genetic influences on CU traits contribute to antisocial behavior. This study examines genetic overlap between CU traits and general domains of personality. We measured CU traits using the Inventory of Callous-Unemotional Traits (ICU) and Big Five personality using the Big Five Inventory in a sample of adolescent twins from the Texas Twin Project. Genetic influences on the Big Five personality dimensions could account for the entirety of genetic influences on CU traits. Item Response Theory results indicate that the Inventory of Callous and Unemotional Traits is better at detecting clinically relevant personality variation at lower extremes of personality trait continua, particularly low agreeableness and low conscientiousness. The proximate biological mechanisms that mediate genetic liabilities for CU traits remain an open question. The results of the current study suggest that understanding the development of normal personality may inform understanding of the genetic underpinnings of callous and unemotional behavior.

  8. Facial emotion perception differs in young persons at genetic and clinical high-risk for psychosis.

    PubMed

    Kohler, Christian G; Richard, Jan A; Brensinger, Colleen M; Borgmann-Winter, Karin E; Conroy, Catherine G; Moberg, Paul J; Gur, Ruben C; Gur, Raquel E; Calkins, Monica E

    2014-05-15

    A large body of literature has documented facial emotion perception impairments in schizophrenia. More recently, emotion perception has been investigated in persons at genetic and clinical high-risk for psychosis. This study compared emotion perception abilities in groups of young persons with schizophrenia, clinical high-risk, genetic risk and healthy controls. Groups, ages 13-25, included 24 persons at clinical high-risk, 52 first-degree relatives at genetic risk, 91 persons with schizophrenia and 90 low risk persons who completed computerized testing of emotion recognition and differentiation. Groups differed by overall emotion recognition abilities and recognition of happy, sad, anger and fear expressions. Pairwise comparisons revealed comparable impairments in recognition of happy, angry, and fearful expressions for persons at clinical high-risk and schizophrenia, while genetic risk participants were less impaired, showing reduced recognition of fearful expressions. Groups also differed for differentiation of happy and sad expressions, but differences were mainly between schizophrenia and control groups. Emotion perception impairments are observable in young persons at-risk for psychosis. Preliminary results with clinical high-risk participants, when considered along findings in genetic risk relatives, suggest social cognition abilities to reflect pathophysiological processes involved in risk of schizophrenia. PMID:24582775

  9. A behavior genetic investigation of the relationship between leadership and personality.

    PubMed

    Johnson, Andrew M; Vernon, Philip A; Harris, Julie Aitken; Jang, Kerry L

    2004-02-01

    Phenotypic research on leadership style has long considered the importance of individual differences in personality when identifying the behaviors associated with good leaders. Although leadership and many personality traits have been separately shown to be heritable, these constructs have not been examined with genetically informative data to identify common sources of heritability in the two domains. A logical extension to current research, therefore, is to examine the extent to which factors of personality are predictive of leadership dimensions and the extent to which unique genetic contributions to the relationship between personality and leadership style may be identified. Adult twin pairs (183 MZ and 64 same-sex DZ) completed the Multifactor Leadership Questionnaire (MLQ) and the Personality Research Form (PRF). Univariate analyses indicated that both leadership factors (transformational and transactional leadership) and all five of the "Big Five" factors (openness, conscientiousness, extraversion, disagreeableness, and neuroticism) were best fit by genetic models. Multivariate genetic analyses suggest that transformational leadership shows a statistically significant positive genetic correlation with conscientiousness, extraversion, and openness to experience. Transactional leadership shows a significant negative genetic correlation with conscientiousness and extraversion, and a significant positive genetic correlation with disagreeableness. These results underscore the importance of conscientiousness and extraversion in predicting leadership style, and illustrate important differences between transformational and transactional leaders. PMID:15053851

  10. A behavior genetic investigation of the relationship between leadership and personality.

    PubMed

    Johnson, Andrew M; Vernon, Philip A; Harris, Julie Aitken; Jang, Kerry L

    2004-02-01

    Phenotypic research on leadership style has long considered the importance of individual differences in personality when identifying the behaviors associated with good leaders. Although leadership and many personality traits have been separately shown to be heritable, these constructs have not been examined with genetically informative data to identify common sources of heritability in the two domains. A logical extension to current research, therefore, is to examine the extent to which factors of personality are predictive of leadership dimensions and the extent to which unique genetic contributions to the relationship between personality and leadership style may be identified. Adult twin pairs (183 MZ and 64 same-sex DZ) completed the Multifactor Leadership Questionnaire (MLQ) and the Personality Research Form (PRF). Univariate analyses indicated that both leadership factors (transformational and transactional leadership) and all five of the "Big Five" factors (openness, conscientiousness, extraversion, disagreeableness, and neuroticism) were best fit by genetic models. Multivariate genetic analyses suggest that transformational leadership shows a statistically significant positive genetic correlation with conscientiousness, extraversion, and openness to experience. Transactional leadership shows a significant negative genetic correlation with conscientiousness and extraversion, and a significant positive genetic correlation with disagreeableness. These results underscore the importance of conscientiousness and extraversion in predicting leadership style, and illustrate important differences between transformational and transactional leaders.

  11. The Genetic and Environmental Covariation among Psychopathic Personality Traits, and Reactive and Proactive Aggression in Childhood

    ERIC Educational Resources Information Center

    Bezdjian, Serena; Tuvblad, Catherine; Raine, Adrian; Baker, Laura A.

    2011-01-01

    The present study investigated the genetic and environmental covariance between psychopathic personality traits with reactive and proactive aggression in 9- to 10-year-old twins (N = 1,219). Psychopathic personality traits were assessed with the Child Psychopathy Scale (D. R. Lynam, 1997), while aggressive behaviors were assessed using the…

  12. Genetic and Environmental Influences on Extreme Personality Dispositions in Adolescent Female Twins

    ERIC Educational Resources Information Center

    Pergadia, Michele L.; Madden, Pamela A. F.; Lessov, Christina N.; Todorov, Alexandre A.; Bucholz, Kathleen K.; Martin, Nicholas G.; Heath, Andrew C.

    2006-01-01

    Background: The objective was to determine whether the pattern of environmental and genetic influences on deviant personality scores differs from that observed for the normative range of personality, comparing results in adolescent and adult female twins. Methods: A sample of 2,796 female adolescent twins ascertained from birth records provided…

  13. On the genetic modification of psychology, personality, and behavior.

    PubMed

    Neitzke, Alex B

    2012-12-01

    I argue that the use of heritable modifications for psychology, personality, and behavior should be limited to the reversal or prevention of relatively unambiguous instances of pathology or likely harm (e.g. sociopathy). Most of the likely modifications of psychological personality would not be of this nature, however, and parents therefore should not have the freedom to make such modifications to future children. I argue by examining the viewpoints of both the individual and society. For individuals, modifications would interfere with their capacity for self-determination in a way that undermines the very concept of self-determination. I argue that modification of psychology and personality is unlike present parenting in morally significant ways. For society, modification offers a medium for power to manipulate the makeup of persons and populations, possibly causing biological harm to the species and altering our conceptions of social responsibility.

  14. The 'I' in personalized genetics: 2008 Ian Constable lecture.

    PubMed

    Mackey, David A

    2009-07-01

    The completion of the Human Genome Project heralded a new era in human genetic testing to predict individuals at risk from many common diseases. DNA markers can also be used to track one's ancestry. Eye diseases such as age-related macular degeneration and glaucoma have been important examples of the success of genome-wide association studies. Resource-strapped genetic services have been limited in providing DNA testing for many well-established hereditary diseases. Thus, several direct-to-consumer genetic services have arisen to fill the gap. However, there is a major need for research into interpreting the results of such tests of up to one million DNA markers. Studies of population, family and twins sharing common diseases help us clarify the significance of gene-disease associations. However, as identical twins show us, for some conditions our genes do not absolutely determine our destiny and environmental factors interact with our genetic profile.

  15. The 'I' in personalized genetics: 2008 Ian Constable lecture.

    PubMed

    Mackey, David A

    2009-07-01

    The completion of the Human Genome Project heralded a new era in human genetic testing to predict individuals at risk from many common diseases. DNA markers can also be used to track one's ancestry. Eye diseases such as age-related macular degeneration and glaucoma have been important examples of the success of genome-wide association studies. Resource-strapped genetic services have been limited in providing DNA testing for many well-established hereditary diseases. Thus, several direct-to-consumer genetic services have arisen to fill the gap. However, there is a major need for research into interpreting the results of such tests of up to one million DNA markers. Studies of population, family and twins sharing common diseases help us clarify the significance of gene-disease associations. However, as identical twins show us, for some conditions our genes do not absolutely determine our destiny and environmental factors interact with our genetic profile. PMID:19624338

  16. [Personal genetic information and ethical consideration: from medical viewpoint].

    PubMed

    Morisaki, Takayuki

    2009-06-01

    Rapid progress in human genetic research has identified not only the entire DNA sequence of human genome DNA but the information on an individual risk to a hereditary disease or common diseases. Although individual genetic information will help to establish development of disease prevention method or better new therapeutic procedure, it will also raise quite a few ethical issues. Here, recent research progress on this field and corresponding regulatory procedures by professionals and governmental (Japan and other countries)/intergovernmental body are discussed.

  17. Genetic and environmental continuity in personality development: a meta-analysis.

    PubMed

    Briley, Daniel A; Tucker-Drob, Elliot M

    2014-09-01

    The longitudinal stability of personality is low in childhood but increases substantially into adulthood. Theoretical explanations for this trend differ in the emphasis placed on intrinsic maturation and socializing influences. To what extent does the increasing stability of personality result from the continuity and crystallization of genetically influenced individual differences, and to what extent does the increasing stability of life experiences explain increases in personality trait stability? Behavioral genetic studies, which decompose longitudinal stability into sources associated with genetic and environmental variation, can help to address this question. We aggregated effect sizes from 24 longitudinal behavioral genetic studies containing information on a total of 21,057 sibling pairs from 6 types that varied in terms of genetic relatedness and ranged in age from infancy to old age. A combination of linear and nonlinear meta-analytic regression models were used to evaluate age trends in levels of heritability and environmentality, stabilities of genetic and environmental effects, and the contributions of genetic and environmental effects to overall phenotypic stability. Both the genetic and environmental influences on personality increase in stability with age. The contribution of genetic effects to phenotypic stability is moderate in magnitude and relatively constant with age, in part because of small-to-moderate decreases in the heritability of personality over child development that offset increases in genetic stability. In contrast, the contribution of environmental effects to phenotypic stability increases from near zero in early childhood to moderate in adulthood. The life-span trend of increasing phenotypic stability, therefore, predominantly results from environmental mechanisms.

  18. Genetic and Environmental Continuity in Personality Development: A Meta-Analysis

    PubMed Central

    Briley, Daniel A.; Tucker-Drob, Elliot M.

    2014-01-01

    The longitudinal stability of personality is low in childhood, but increases substantially into adulthood. Theoretical explanations for this trend differ in the emphasis placed on intrinsic maturation and socializing influences. To what extent does the increasing stability of personality result from the continuity and crystallization of genetically influenced individual differences, and to what extent does the increasing stability of life experiences explain increases in personality trait stability? Behavioral genetic studies, which decompose longitudinal stability into sources associated with genetic and environmental variation, can help to address this question. We aggregated effect sizes from 24 longitudinal behavioral genetic studies containing information on a total of 21,057 sibling pairs from six types that varied in terms of genetic relatedness and ranged in age from infancy to old age. A combination of linear and nonlinear meta-analytic regression models were used to evaluate age-trends in levels of heritability and environmentality, stabilities of genetic and environmental effects, and the contributions of genetic and environmental effects to overall phenotypic stability. Both the genetic and environmental influences on personality increase in stability with age. The contribution of genetic effects to phenotypic stability is moderate in magnitude and relatively constant with age, in part because of small-to-moderate decreases in the heritability of personality over child development that offset increases in genetic stability. In contrast, the contribution of environmental effects to phenotypic stability increases from near-zero in early childhood to moderate in adulthood. The lifespan trend of increasing phenotypic stability, therefore, predominantly results from environmental mechanisms. PMID:24956122

  19. Genetic and environmental contributions to the co-occurrence of depressive personality disorder and DSM-IV personality disorders.

    PubMed

    Ørstavik, Ragnhild E; Kendler, Kenneth S; Røysamb, Espen; Czajkowski, Nikolai; Tambs, Kristian; Reichborn-Kjennerud, Ted

    2012-06-01

    One of the main controversies with regard to depressive personality disorder (DPD) concerns the co-occurrence with the established DSM-IV personality disorders (PDs). The main aim of this study was to examine to what extent DPD and the DSM-IV PDs share genetic and environmental risk factors, using multivariate twin modeling. The DSM-IV Structured Interview for Personality was applied to 2,794 young adult twins. Paranoid PD from Cluster A, borderline PD from Cluster B, and all three PDs from Cluster C were independently and significantly associated with DPD in multiple regression analysis. The genetic correlations between DPD and the other PDs were strong (.53-.83), while the environmental correlations were moderate (.36-.40). Close to 50% of the total variance in DPD was disorder specific. However, only 5% was due to disorder-specific genetic factors, indicating that a substantial part of the genetic vulnerability to DPD also increases the vulnerability to other PDs.

  20. Genetic variants implicated in personality: a review of the more promising candidates.

    PubMed

    Savitz, Jonathan B; Ramesar, Rajkumar S

    2004-11-15

    Alleles of the serotonin transporter gene (SERT) and the dopamine 4 receptor gene (DRD4) were first associated with anxiety-related and novelty-seeking personality traits, respectively, in 1996. These early successes precipitated a flood of research into the genetic basis of personality; a quest that has yet to yield decisive answers. Here, both the theoretical and the empirical evidence implicating specific loci-in particular SERT and DRD4-in the development of personality is evaluated. Despite a paucity of statistically significant results following post-hoc analysis, and an excess of positive results derived from studies with small sample sizes, the existence of a genuine effect is argued for: a gene-personality relationship rendered periodically latent through genetic epistasis, gene-environment interactions, variation in genetic background, and the presence of other confounding variables.

  1. Genetic and environmental influences on risky sexual behaviour and its relationship with personality.

    PubMed

    Zietsch, B P; Verweij, K J H; Bailey, J M; Wright, M J; Martin, N G

    2010-01-01

    Risky sexual behaviour is a major health issue in society, and it is therefore important to understand factors that may predispose individuals to such behaviour. Research suggests a link between risky sexual behaviour and personality, but the basis of this link remains unknown. Hans Eysenck proposed that personality is related to sexual behaviour via biological underpinnings of both. Here we test the viability of this perspective by analysing data from identical and non-identical twins (N = 4,904) who completed a questionnaire assessing sexual attitudes and behaviour as well as personality. Using genetic modelling of the twin data, we found that risky sexual behaviour was significantly positively correlated with Impulsivity (r = .27), Extraversion (r = .24), Psychoticism (r = .20), and Neuroticism (r = .09), and that in each case the correlation was due primarily to overlapping genetic influences. These findings suggest that the genetic influences that shape our personality may also predispose us to risky sexual behaviour.

  2. Genetic and environmental influences on risky sexual behaviour and its relationship with personality.

    PubMed

    Zietsch, B P; Verweij, K J H; Bailey, J M; Wright, M J; Martin, N G

    2010-01-01

    Risky sexual behaviour is a major health issue in society, and it is therefore important to understand factors that may predispose individuals to such behaviour. Research suggests a link between risky sexual behaviour and personality, but the basis of this link remains unknown. Hans Eysenck proposed that personality is related to sexual behaviour via biological underpinnings of both. Here we test the viability of this perspective by analysing data from identical and non-identical twins (N = 4,904) who completed a questionnaire assessing sexual attitudes and behaviour as well as personality. Using genetic modelling of the twin data, we found that risky sexual behaviour was significantly positively correlated with Impulsivity (r = .27), Extraversion (r = .24), Psychoticism (r = .20), and Neuroticism (r = .09), and that in each case the correlation was due primarily to overlapping genetic influences. These findings suggest that the genetic influences that shape our personality may also predispose us to risky sexual behaviour. PMID:19813084

  3. PSYCHOPATHIC PERSONALITY TRAITS IN MIDDLE-AGED MALE TWINS:A BEHAVIOR GENETIC INVESTIGATION

    PubMed Central

    Brook, Michael; Panizzon, Matthew S.; Kosson, David S.; Sullivan, Elizabeth A; Lyons, Michael J.; Franz, Carol E.; Eisen, Seth A.; Kremen, William S.

    2015-01-01

    Psychopathic personality is characterized by Interpersonal dominance, Impulsivity, sensation seeking, poor planning, and aggressiveness. Studies have shown that the Multidimensional Personality Question-naire (MPQ) can be used to estimate scores on the fearless-dominant (FD) and the Impulsive-antisocial (IA) dimensions of the Psychopathic Personality Inventory (PPI), the best validated self-report measure of psychopathic personality traits. Prior behavior genetic studies reported roughly equal genetic and nonshared environmental influences for both FD and IA, which remained stable from adolescence to young adulthood. However, no prior studies address genetic and environmental influences on these dimensions beyond early adulthood. We utilized the classic twin method to examine genetic and environmental influences on variance in FD and IA in a sample of middle-aged male twins. Biometric modeling indicated that the variance In both factors Is best explained by additive genetic and nonshared environmental influences. FD showed roughly equal contributions from genetic and environmental factors, whereas IA showed greater contributions from environmental than genetic factors. Additionally, the small phenotypic correlation between FD and IA was explained entirely by nonshared environmental factors. PMID:20695807

  4. Genetic alterations and personalized medicine in melanoma: progress and future prospects.

    PubMed

    Griewank, Klaus G; Scolyer, Richard A; Thompson, John F; Flaherty, Keith T; Schadendorf, Dirk; Murali, Rajmohan

    2014-02-01

    High-throughput sequencing technologies are providing new insights into the genetic alterations involved in melanomagenesis. It appears likely that most genetic events important in the pathogenesis of melanoma will be discovered over the next few years. Genetic analysis is also increasingly being used to direct patient care. In parallel with the discovery of new genes and the elucidation of molecular pathways important in the development of melanoma, therapies targeting these pathways are becoming available. In other words, the age of personalized medicine has arrived, characterized by molecular profiling of melanoma to identify the relevant genetic alterations and the abnormal signaling mechanisms involved, followed by selection of optimal, individualized therapies. In this review, we summarize the key genetic alterations in melanoma and the development of targeted agents against melanomas bearing specific mutations. These developments in melanoma serve as a model for the implementation of personalized medicine for patients with all cancers.

  5. Ureaplasma parvum undergoes selection in utero resulting in genetically diverse isolates colonizing the chorioamnion of fetal sheep.

    PubMed

    Dando, Samantha J; Nitsos, Ilias; Polglase, Graeme R; Newnham, John P; Jobe, Alan H; Knox, Christine L

    2014-02-01

    Ureaplasmas are the microorganisms most frequently isolated from the amniotic fluid of pregnant women and can cause chronic intrauterine infections. These tiny bacteria are thought to undergo rapid evolution and exhibit a hypermutatable phenotype; however, little is known about how ureaplasmas respond to selective pressures in utero. Using an ovine model of chronic intraamniotic infection, we investigated if exposure of ureaplasmas to subinhibitory concentrations of erythromycin could induce phenotypic or genetic indicators of macrolide resistance. At 55 days gestation, 12 pregnant ewes received an intraamniotic injection of a nonclonal, clinical Ureaplasma parvum strain followed by (i) erythromycin treatment (intramuscularly, 30 mg/kg/day, n = 6) or (ii) saline (intramuscularly, n = 6) at 100 days gestation. Fetuses were then delivered surgically at 125 days gestation. Despite injecting the same inoculum into all the ewes, significant differences between amniotic fluid and chorioamnion ureaplasmas were detected following chronic intraamniotic infection. Numerous polymorphisms were observed in domain V of the 23S rRNA gene of ureaplasmas isolated from the chorioamnion (but not the amniotic fluid), resulting in a mosaiclike sequence. Chorioamnion isolates also harbored the macrolide resistance genes erm(B) and msr(D) and were associated with variable roxithromycin minimum inhibitory concentrations. Remarkably, this variability occurred independently of exposure of ureaplasmas to erythromycin, suggesting that low-level erythromycin exposure does not induce ureaplasmal macrolide resistance in utero. Rather, the significant differences observed between amniotic fluid and chorioamnion ureaplasmas suggest that different anatomical sites may select for ureaplasma subtypes within nonclonal, clinical strains. This may have implications for the treatment of intrauterine ureaplasma infections.

  6. Personalized Genetic Testing as a Tool for Integrating Ethics Instruction into Biology Courses

    PubMed Central

    Zhang, Tenny R.; Anderson, Misti Ault

    2014-01-01

    Personalized genetic testing (PGT) has been used by some educational institutions as a pedagogical tool for teaching human genetics. While work has been done that examines the potential for PGT to improve students’ interest and understanding of the science involved in genetic testing, there has been less dialogue about how this method might be useful for integrating ethical and societal issues surrounding genetic testing into classroom discussions. Citing the importance of integrating ethics into the biology classroom, we argue that PGT can be an effective educational tool for integrating ethics and science education, and discuss relevant ethical considerations for instructors using this approach. PMID:25574278

  7. Heritability of problem drinking and the genetic overlap with personality in a general population sample.

    PubMed

    de Moor, Marleen H M; Vink, Jacqueline M; van Beek, Jenny H D A; Geels, Lot M; Bartels, Meike; de Geus, Eco J C; Willemsen, Gonneke; Boomsma, Dorret I

    2011-01-01

    This study examined the heritability of problem drinking and investigated the phenotypic and genetic relationships between problem drinking and personality. In a sample of 5,870 twins and siblings and 4,420 additional family members from the Netherlands Twin Register. Data on problem drinking (assessed with the AUDIT and CAGE; 12 items) and personality [NEO Five-Factor Inventory (FFI); 60 items] were collected in 2009/2010 by surveys. Confirmatory factor analysis on the AUDIT and CAGE items showed that the items clustered on two separate but highly correlated (r = 0.74) underlying factors. A higher-order factor was extracted that reflected those aspects of problem drinking that are common to the AUDIT and CAGE, which showed a heritability of 40%. The correlations between problem drinking and the five dimensions of personality were small but significant, ranging from 0.06 for Extraversion to -0.12 for Conscientiousness. All personality dimensions (with broad-sense heritabilities between 32 and 55%, and some evidence for non-additive genetic influences) were genetically correlated with problem drinking. The genetic correlations were small to modest (between |0.12| and |0.41|). Future studies with longitudinal data and DNA polymorphisms are needed to determine the biological mechanisms that underlie the genetic link between problem drinking and personality.

  8. Genetic and environmental mediation between measures of personality and family environment in twins reared together.

    PubMed

    Kandler, Christian; Riemann, Rainer; Kämpfe, Nicole

    2009-01-01

    In this study we analyzed the etiology of the relationship between personality traits and retrospectively recalled family environment. The data of 226 identical and 168 fraternal twin pairs reared together from the Jena twin study of social attitudes were available. Personality traits were measured using the self- and peer report versions of the German NEO-personality inventory-revised. A German version of Blocks Environmental Questionnaire was applied to measure two broad dimensions of the family environment retrospectively: support and organization. We could replicate earlier findings that retrospective reports of these family environment dimensions were in part genetically influenced. A total of 66% of the genetic variance in support and 24% in organization could be accounted for by heritable variance in self-rated personality. That was replicated by using peer reports of personality, 41% explained genetic variance in support and 17% in organization. Environmental mediations were negligible. This indicates that the relationship between personality and retrospectively recalled family environment is largely genetically mediated.

  9. Asthma pharmacogenetics and the development of genetic profiles for personalized medicine

    PubMed Central

    Ortega, Victor E; Meyers, Deborah A; Bleecker, Eugene R

    2015-01-01

    Human genetics research will be critical to the development of genetic profiles for personalized or precision medicine in asthma. Genetic profiles will consist of gene variants that predict individual disease susceptibility and risk for progression, predict which pharmacologic therapies will result in a maximal therapeutic benefit, and predict whether a therapy will result in an adverse response and should be avoided in a given individual. Pharmacogenetic studies of the glucocorticoid, leukotriene, and β2-adrenergic receptor pathways have focused on candidate genes within these pathways and, in addition to a small number of genome-wide association studies, have identified genetic loci associated with therapeutic responsiveness. This review summarizes these pharmacogenetic discoveries and the future of genetic profiles for personalized medicine in asthma. The benefit of a personalized, tailored approach to health care delivery is needed in the development of expensive biologic drugs directed at a specific biologic pathway. Prior pharmacogenetic discoveries, in combination with additional variants identified in future studies, will form the basis for future genetic profiles for personalized tailored approaches to maximize therapeutic benefit for an individual asthmatic while minimizing the risk for adverse events. PMID:25691813

  10. A genetic analysis of avian personality traits: correlated, response to artificial selection.

    PubMed

    van Oers, Kees; de Jong, Gerdien; Drent, Piet J; van Noordwijk, Arie J

    2004-11-01

    Individuals in a range of species consistently differ in their behavior towards mild challenges, over age and time. Differences have been found for several personality traits in a range of species. In great tits these traits have a genetic basis and are phenotypically correlated. Estimates of genetic correlations are, however, fundamental to understanding the evolution of consistent individual differences in behavior. This study analyzed two selection experiments on two avian personality traits, early exploratory behavior and risk-taking behavior. The selection lines used were both started using wild great tits (Parus major) from two natural populations. Genetic correlations were calculated using the response and the correlated response to artificial selection. We found genetic correlations ranging from 0.51 to 0.66, based on individual values, and from 0.84 to 1.00 based on nest means. Genetic correlations can be due to pleiotropic effects or to linkage disequilibrium. The different behavioral traits might therefore have a common genetic basis, possibly constraining independent evolution of personality traits in natural populations. These results are discussed in relation to domain generality and domain specificity of personalities.

  11. [Genetic biomarkers and personalized medicine: application in cardiovascular pharmacology].

    PubMed

    Carrillo Norte, Juan Antonio

    2013-01-01

    Not all patients respond to drug therapy in a uniform and beneficial fashion. The goal of this article is to describe the contribution of genetic variation to drug response, with a focus on drugs used in cardiovascular therapy. The rapid development of techniques in the area of genome analysis has facilitated identification of new pharmacogenomic biomarkers that can provide predictive tools for improvement of drug response and fewer incidence of adverse drug reactions. Such biomarkers mainly originate from genes encoding drug-metabolizing enzymes, drug transporters, drug targets and human leukocyte antigens. However, despite significant progress in pharmacogenomic research, only a few drugs require a pharmacogenetic test before prescription. Among the several gaps that limit the application of pharmacogenetics, it deserves to be mentioned the complex nature of drug response, that makes difficult to disentangle the interplay between genetics and environment leading to pharmacological phenotype. We have to spare no effort in the identification of genetic biomarkers related to the pathogenesis of the diseases and therapeutic targets. It may help clinicians to individualize dosing drug regimen, maximize drug efficacy and enhance drug safety with certain drugs and populations at risk.

  12. Sézary Syndrome: Translating Genetic Diversity into Personalized Medicine.

    PubMed

    Chevret, Edith; Merlio, Jean-Philippe

    2016-07-01

    Sézary syndrome is probably the most studied cutaneous T-cell lymphoma subtype. Beyond the consensus criteria for Sézary syndrome diagnosis, Sézary cells display heterogeneous phenotypes and differentiation profiles. In the face of SS diversity, the great hope is to develop targeted therapies based on next-generation sequencing to define the genetic landscape of Sézary syndrome. Prasad et al. report on the use of exome sequencing and RNA sequencing to study selected CD4(+) blood cells from 15 patients with erythroderma Sézary syndrome, 14 of whom fulfilled the conventional criteria for diagnosis. The most common genetic abnormality, TP53 gene deletion on chromosome arm 17p and/or mutation, was observed in 58% of patients. However, mutations affecting PLCG1, STAT5B, GLI3, and CARD11 each were detected in only one individual. Nevertheless, Prasad et al. report single point mutations or copy number alterations in several new genes and in new fusion genes, with predicted biological relevance. This information underscores the diversity of genetic alterations and of the mechanisms of alterations of single genes. At the individual level, Sézary cells may combine alterations of genes involved in T-cell signaling, NF-kB and JAK-signal transducer and activator of transcription pathways, apoptosis control, chromatin remodeling, and DNA damage response. The therapeutic relevance of these potential targets needs to be evaluated with tests of function. PMID:27342034

  13. The influence of mitonuclear genetic variation on personality in seed beetles

    PubMed Central

    Løvlie, Hanne; Immonen, Elina; Gustavsson, Emil; Kazancioğlu, Erem; Arnqvist, Göran

    2014-01-01

    There is a growing awareness of the influence of mitochondrial genetic variation on life-history phenotypes, particularly via epistatic interactions with nuclear genes. Owing to their direct effect on traits such as metabolic and growth rates, mitonuclear interactions may also affect variation in behavioural types or personalities (i.e. behavioural variation that is consistent within individuals, but differs among individuals). However, this possibility is largely unexplored. We used mitonuclear introgression lines, where three mitochondrial genomes were introgressed into three nuclear genetic backgrounds, to disentangle genetic effects on behavioural variation in a seed beetle. We found within-individual consistency in a suite of activity-related behaviours, providing evidence for variation in personality. Composite measures of overall activity of individuals in behavioural assays were influenced by both nuclear genetic variation and by the interaction between nuclear and mitochondrial genomes. More importantly, the degree of expression of behavioural and life-history phenotypes was correlated and mitonuclear genetic variation affected expression of these concerted phenotypes. These results show that mitonuclear genetic variation affects both behavioural and life-history traits, and they provide novel insights into the maintenance of genetic variation in behaviour and personality. PMID:25320161

  14. Not all my fault”: Genetics, stigma, and personal responsibility for women with eating disorders

    PubMed Central

    Easter, Michele M.

    2012-01-01

    Medical researchers and clinicians increasingly understand and present eating disorders (anorexia and bulimia nervosa) as biologically-based psychiatric disorders, with genetic risk factors established by high heritability estimates in twin studies. But there has been no research on interpretation of genetic involvement by people with eating disorders, who may hold other views. Their interpretations are particularly important given the frequent presumption that biogenetic framing will reduce stigma, and recent findings that it exacerbates stigma for other mental illnesses. To identify implications of genetic framing in eating disorders, I conducted semi-structured interviews with 50 US women with a history of eating disorders (half recovered, half in treatment; interviewed 2008–9 in the USA). Interviews introduced the topic of genetics, but not stigma per se. Analysis followed the general principles of grounded theory to identify perceived implications of genetic involvement; those relevant to stigma are reported here. Most anticipated that genetic reframing would help reduce stigma from personal responsibility (i.e., blame and guilt for eating disorder as ongoing choice). A third articulated ways it could add stigma, including novel forms of stigma related to genetic essentialist effacing of social factors. Despite welcoming reductions in blame and guilt, half also worried genetic framing could hamper recovery, by encouraging fatalistic self-fulfilling prophecies and genetic excuses. This study is the first to elicit perceptions of genetic involvement by those with eating disorders, and contributes to an emerging literature on perceptions of psychiatric genetics by people with mental illness. PMID:22819736

  15. "Not all my fault": genetics, stigma, and personal responsibility for women with eating disorders.

    PubMed

    Easter, Michele M

    2012-10-01

    Medical researchers and clinicians increasingly understand and present eating disorders (anorexia and bulimia nervosa) as biologically-based psychiatric disorders, with genetic risk factors established by high heritability estimates in twin studies. But there has been no research on interpretation of genetic involvement by people with eating disorders, who may hold other views. Their interpretations are particularly important given the frequent presumption that biogenetic framing will reduce stigma, and recent findings that it exacerbates stigma for other mental illnesses. To identify implications of genetic framing in eating disorders, I conducted semi-structured interviews with 50 US women with a history of eating disorders (half recovered, half in treatment; interviewed 2008-9 in the USA). Interviews introduced the topic of genetics, but not stigma per se. Analysis followed the general principles of grounded theory to identify perceived implications of genetic involvement; those relevant to stigma are reported here. Most anticipated that genetic reframing would help reduce stigma from personal responsibility (i.e., blame and guilt for eating disorder as ongoing choice). A third articulated ways it could add stigma, including novel forms of stigma related to genetic-essentialist effacing of social factors. Despite welcoming reductions in blame and guilt, half also worried genetic framing could hamper recovery, by encouraging fatalistic self-fulfilling prophecies and genetic excuses. This study is the first to elicit perceptions of genetic involvement by those with eating disorders, and contributes to an emerging literature on perceptions of psychiatric genetics by people with mental illness.

  16. Disentangling the molecular genetic basis of personality: from monoamines to neuropeptides.

    PubMed

    Montag, Christian; Reuter, Martin

    2014-06-01

    The present review/perspectives article provides a short overview of our current understanding of the molecular genetics of personality. In the first part, the most important gene candidates such as COMT or SLC6A4 gene are presented. Since several seminal review studies have recently been published on different facets of molecular genetics and personality/emotionality, we focus the second half of the present article on new relevant research directions. This includes a stronger focus on animal research based testing of candidate genes (e.g. neuropeptides such as oxytocin and vasopressin) and the use of á priori genotyping to increase statistical power. Moreover, we stress the importance of integrating cross-cultural data in future research designs and of inclusion of epigenetic measures in neuroscientifically oriented personality research. Finally, the Affective Neuroscience Personality Scales are introduced as a new promising tool for biologically oriented psychology/psychiatry research.

  17. Genetic and environmental structure of the Tridimensional Personality Questionnaire: three or four temperament dimensions?

    PubMed

    Stallings, M C; Hewitt, J K; Cloninger, C R; Heath, A C; Eaves, L J

    1996-01-01

    Previous phenotypic factor analyses suggest that C. R. Cloninger's Tridimensional Personality Questionnaire (TPQ; 1987c) assesses 4 rather than 3 temperament dimensions. The purpose of this study was to determine whether Cloninger's revised 4-factor model showed incremental validity over his original model and to investigate the convergent and discriminant validity of Cloninger's dimensions in comparison to the personality dimensions proposed by H. J. Eysenck (1981) and J. A. Gray (1970). The sample included 2,420 women and 870 men (aged 50-96) from a volunteer population-based sample of twins. Joint phenotypic factor analyses supported Cloninger's 4-dimensional temperament model. A 4-dimensional genetical factor structure was also confirmed in genetic analyses of the TPQ higher order dimensions in women. For men only 3 genetic factors were necessary to explain the genetic variance among the TPQ dimensions.

  18. [Protection of genetic data in Spain. Analysis based on the general principles of personal data protection].

    PubMed

    García Amez, Javier

    2006-01-01

    The genetic data is Spain is not regulated specifically, rather, we must look at the regulation on the protection of data of a personal nature. This is turn, establishes a series of general principles to apply to any type of data. Analysing this with other regulations that are dispersed both in the national and international regulations, we can deduce the rights and obligations in this field. This highlights the fact that one can't dispose of the genetic data in the same manner as the personal data.

  19. Heritable influences on amygdala and orbitofrontal cortex contribute to genetic variation in core dimensions of personality

    PubMed Central

    Lewis, G.J.; Panizzon, M.S.; Eyler, L.; Fennema-Notestine, C.; Chen, C.-H.; Neale, M.C.; Jernigan, T.L.; Lyons, M.J.; Dale, A.M.; Kremen, W.S.; Franz, C.E.

    2015-01-01

    While many studies have reported that individual differences in personality traits are genetically influenced, the neurobiological bases mediating these influences have not yet been well characterized. To advance understanding concerning the pathway from genetic variation to personality, here we examined whether measures of heritable variation in neuroanatomical size in candidate regions (amygdala and medial orbitofrontal cortex) were associated with heritable effects on personality. A sample of 486 middle-aged (mean = 55 years) male twins (complete MZ pairs = 120; complete DZ pairs = 84) underwent structural brain scans and also completed measures of two core domains of personality: positive and negative emotionality. After adjusting for estimated intracranial volume, significant phenotypic (rp) and genetic (rg) correlations were observed between left amygdala volume and positive emotionality (rp = .16, p < .01; rg = .23, p < .05, respectively). In addition, after adjusting for mean cortical thickness, genetic and nonshared-environmental correlations (re) between left medial orbitofrontal cortex thickness and negative emotionality were also observed (rg = .34, p < .01; re = −.19, p < .05, respectively). These findings support a model positing that heritable bases of personality are, at least in part, mediated through individual differences in the size of brain structures, although further work is still required to confirm this causal interpretation. PMID:25263286

  20. Heritable influences on amygdala and orbitofrontal cortex contribute to genetic variation in core dimensions of personality.

    PubMed

    Lewis, G J; Panizzon, M S; Eyler, L; Fennema-Notestine, C; Chen, C-H; Neale, M C; Jernigan, T L; Lyons, M J; Dale, A M; Kremen, W S; Franz, C E

    2014-12-01

    While many studies have reported that individual differences in personality traits are genetically influenced, the neurobiological bases mediating these influences have not yet been well characterized. To advance understanding concerning the pathway from genetic variation to personality, here we examined whether measures of heritable variation in neuroanatomical size in candidate regions (amygdala and medial orbitofrontal cortex) were associated with heritable effects on personality. A sample of 486 middle-aged (mean=55 years) male twins (complete MZ pairs=120; complete DZ pairs=84) underwent structural brain scans and also completed measures of two core domains of personality: positive and negative emotionality. After adjusting for estimated intracranial volume, significant phenotypic (r(p)) and genetic (r(g)) correlations were observed between left amygdala volume and positive emotionality (r(p)=.16, p<.01; r(g)=.23, p<.05, respectively). In addition, after adjusting for mean cortical thickness, genetic and nonshared-environmental correlations (r(e)) between left medial orbitofrontal cortex thickness and negative emotionality were also observed (r(g)=.34, p<.01; r(e)=-.19, p<.05, respectively). These findings support a model positing that heritable bases of personality are, at least in part, mediated through individual differences in the size of brain structures, although further work is still required to confirm this causal interpretation.

  1. Randomized Trial of Telegenetics vs. In-Person Cancer Genetic Counseling: Cost, Patient Satisfaction and Attendance.

    PubMed

    Buchanan, Adam H; Datta, Santanu K; Skinner, Celette Sugg; Hollowell, Gail P; Beresford, Henry F; Freeland, Thomas; Rogers, Benjamin; Boling, John; Marcom, P Kelly; Adams, Martha B

    2015-12-01

    Telegenetics-genetic counseling via live videoconferencing-can improve access to cancer genetic counseling (CGC) in underserved areas, but studies on cancer telegenetics have not applied randomized methodology or assessed cost. We report cost, patient satisfaction and CGC attendance from a randomized trial comparing telegenetics with in-person CGC among individuals referred to CGC in four rural oncology clinics. Participants (n = 162) were randomized to receive CGC at their local oncology clinic in-person or via telegenetics. Cost analyses included telegenetics system; mileage; and personnel costs for genetic counselor, IT specialist, and clinic personnel. CGC attendance was tracked via study database. Patient satisfaction was assessed 1 week post-CGC via telephone survey using validated scales. Total costs were $106 per telegenetics patient and $244 per in-person patient. Patient satisfaction did not differ by group on either satisfaction scale. In-person patients were significantly more likely to attend CGC than telegenetics patients (89 vs. 79 %, p = 0.03), with bivariate analyses showing an association between lesser computer comfort and lower attendance rate (Chi-square = 5.49, p = 0.02). Our randomized trial of telegenetics vs. in-person counseling found that telegenetics cost less than in-person counseling, with high satisfaction among those who attended. This study provides support for future randomized trials comparing multiple service delivery models on longer-term psychosocial and behavioral outcomes.

  2. Personality assessment and its association with genetic factors in captive Asian and African elephants.

    PubMed

    Yasui, Saki; Konno, Akitsugu; Tanaka, Masayuki; Idani, Gen'ichi; Ludwig, Arne; Lieckfeldt, Dietmar; Inoue-Murayama, Miho

    2013-01-01

    Elephants live in a complex society based on matrilineal groups. Management of captive elephants is difficult, partly because each elephant has a unique personality. For a better understanding of elephant well being in captivity, it would be helpful to systematically evaluate elephants' personalities and their underlying biological basis. We sent elephant' personality questionnaires to keepers of 75 elephants. We also used 196 elephant DNA samples to search for genetic polymorphisms in genes expressed in the brain that have been suggested to be related to personality traits. Three genes, androgen receptor (AR), fragile X related mental retardation protein interacting protein (NUFIP2), and acheate-scute homologs 1 (ASH1) contained polymorphic regions. We examined the association of personality with intraspecific genetic variation in 17 Asian and 28 African elephants. The results suggest that the ASH1 genotype was associated with neuroticism in Asian elephants. Subjects with short alleles had lower scores of neuroticism than those with long alleles. This is the first report of an association between a genetic polymorphism and personality in elephants.

  3. Exploring the genetics of nestling personality traits in a wild passerine bird: testing the phenotypic gambit.

    PubMed

    Brommer, Jon E; Kluen, Edward

    2012-12-01

    When several personality traits covary, they form a behavioral syndrome. Understanding the evolutionary dynamics of a behavioral syndrome requires knowledge of its genetic underpinning. At present, our understanding of the genetic basis of behavioral syndromes is largely restricted to domestic and laboratory animals. Wild behavioral syndromes are mostly inferred on the basis of phenotypic correlations, and thus make the "phenotypic gambit" of assuming that these phenotypic correlations capture the underlying genetic correlations. On the basis of 3 years of reciprocal cross-fostering of 2896 nestlings of 271 families within a pedigreed population, we show that the nestling personality traits handling aggression, breathing rate, and docility are heritable (h(2) = 16-29%), and often have a pronounced "nest-of-rearing" variance component (10-15%), but a relatively small "nest-of-origin" variance component (0-7%). The three nestling personality traits form a behavioral syndrome on the phenotypic and genetic level. Overall, the phenotypic correlations provide a satisfactory description of the genetic ones, but significantly underestimate the magnitude of one of the pairwise genetic correlations, which mirrors the conclusion based on domestic and laboratory studies.

  4. Who has the right to know the genetic constitution of a particular person?

    PubMed

    Zimmerli, W C

    1990-01-01

    Having conquered computer science, linguistics and aesthetics, the 'informational paradigm' has finally reached bioscience. In terms of information theory a human being's personal identity is defined by his/her unique combination of genetic information ('genetic fingerprint'). Any ethical analysis of the accessibility of individual genetic data must therefore be considered both from a medical ethics and from an information ethics point of view. As far as medical ethics is concerned it is obvious that certain medical activities relating to the physical and psychological integrity of human beings require informed consent. Since all activity involved in revealing a person's genetic constitution fulfils the requirements of informed consent, it goes without saying that only the person concerned has the right to determine who should have access to his/her genetic information. From an information ethics point of view, however, there is by definition no such thing as the natural right to private ownership of any kind of information. Information is in principle rather defined as a publicly shared good. We could therefore conclude from this that in principle everyone has the right to know everyone else's genetic constitution. The paper discusses some of the resulting problems by analysing different sets of arguments and confronting them with higher-order principles of modern ethics. PMID:2335128

  5. Patient and genetic counselor perceptions of in-person versus telephone genetic counseling for hereditary breast/ovarian cancer.

    PubMed

    Jacobs, Aryana S; Schwartz, Marc D; Valdimarsdottir, Heiddis; Nusbaum, Rachel H; Hooker, Gillian W; DeMarco, Tiffani A; Heinzmann, Jessica E; McKinnon, Wendy; McCormick, Shelley R; Davis, Claire; Forman, Andrea D; Lebensohn, Alexandra Perez; Dalton, Emily; Tully, Diana Moglia; Graves, Kristi D; Similuk, Morgan; Kelly, Scott; Peshkin, Beth N

    2016-10-01

    Telephone genetic counseling (TC) for high-risk women interested in BRCA1/2 testing has been shown to yield positive outcomes comparable to usual care (UC; in-person) genetic counseling. However, little is known about how genetic counselors perceive the delivery of these alternate forms of genetic counseling. As part of a randomized trial of TC versus UC, genetic counselors completed a 5-item genetic counselor process questionnaire (GCQ) assessing key elements of pre-test sessions (information delivery, emotional support, addressing questions and concerns, tailoring of session, and facilitation of decision-making) with the 479 female participants (TC, N = 236; UC, N = 243). The GCQ scores did not differ for TC vs. UC sessions (t (477) = 0.11, p = 0.910). However, multivariate analysis showed that participant race/ethnicity significantly predicted genetic counselor perceptions (β = 0.172, p < 0.001) in that the GCQ scores were lower for minorities in TC and UC. Exploratory analyses suggested that GCQ scores may be associated with patient preference for UC versus TC (t (79) = 2.21, p = 0.030). Additionally, we found that genetic counselor ratings of session effectiveness were generally concordant with patient perceptions of the session. These data indicate that genetic counselors perceive that key components of TC can be delivered as effectively as UC, and that these elements may contribute to specific aspects of patient satisfaction. However, undefined process differences may be present which account for lower counselor perceptions about the effectiveness of their sessions with minority women (i.e., those other than non-Hispanic Whites). We discuss other potential clinical and research implications of our findings.

  6. A genetic-based algorithm for personalized resistance training

    PubMed Central

    Kiely, J; Suraci, B; Collins, DJ; de Lorenzo, D; Pickering, C; Grimaldi, KA

    2016-01-01

    Association studies have identified dozens of genetic variants linked to training responses and sport-related traits. However, no intervention studies utilizing the idea of personalised training based on athlete's genetic profile have been conducted. Here we propose an algorithm that allows achieving greater results in response to high- or low-intensity resistance training programs by predicting athlete's potential for the development of power and endurance qualities with the panel of 15 performance-associated gene polymorphisms. To develop and validate such an algorithm we performed two studies in independent cohorts of male athletes (study 1: athletes from different sports (n = 28); study 2: soccer players (n = 39)). In both studies athletes completed an eight-week high- or low-intensity resistance training program, which either matched or mismatched their individual genotype. Two variables of explosive power and aerobic fitness, as measured by the countermovement jump (CMJ) and aerobic 3-min cycle test (Aero3) were assessed pre and post 8 weeks of resistance training. In study 1, the athletes from the matched groups (i.e. high-intensity trained with power genotype or low-intensity trained with endurance genotype) significantly increased results in CMJ (P = 0.0005) and Aero3 (P = 0.0004). Whereas, athletes from the mismatched group (i.e. high-intensity trained with endurance genotype or low-intensity trained with power genotype) demonstrated non-significant improvements in CMJ (P = 0.175) and less prominent results in Aero3 (P = 0.0134). In study 2, soccer players from the matched group also demonstrated significantly greater (P < 0.0001) performance changes in both tests compared to the mismatched group. Among non- or low responders of both studies, 82% of athletes (both for CMJ and Aero3) were from the mismatched group (P < 0.0001). Our results indicate that matching the individual's genotype with the appropriate training modality leads to more effective

  7. A behavioral genetic study of the dark triad of personality and moral development.

    PubMed

    Campbell, Jennifer; Schermer, Julie Aitken; Villani, Vanessa C; Nguyen, Brenda; Vickers, Leanne; Vernon, Philip A

    2009-04-01

    The present study is the first behavioral genetic investigation of relationships between the Dark Triad of personality--Machiavellianism, narcissism, and subclinical psychopathy--and moral development. Participants were 154 monozygotic twin pairs and 82 same-sex dizygotic twin pairs. Higher scores on Machiavellianism and psychopathy were positively correlated with low levels of moral development; high psychopathy scores also correlated negatively with high levels of moral development. Individual differences in lower levels of moral development were attributable to genetic and nonshared environmental factors but, very interestingly, individual differences in the highest levels of moral development showed no genetic basis but were entirely attributable to shared and nonshared environmental factors. Finally, correlations between the Dark Triad and moral development variables showed no genetic basis while correlations among the moral development variables were variously attributable to correlated genetic and correlated environmental factors.

  8. Personalized Home-based Interval Exercise Training May Improve Cardiorespiratory Fitness in Cancer Patients Preparing to Undergo Hematopoietic Cell Transplantation

    PubMed Central

    Wood, William A; Phillips, Brett; Smith-Ryan, Abbie E; Wilson, Doug; Deal, Allison M; Bailey, Charlotte; Meeneghan, Mathew; Reeve, Bryce B; Basch, Ethan M; Bennett, Antonia V; Shea, Thomas C; Battaglini, Claudio L

    2016-01-01

    Impaired cardiorespiratory fitness is associated with inferior survival in patients preparing to undergo hematopoietic cell transplantation (HCT). Exercise training based on short, higher-intensity intervals has the potential to efficiently improve cardiorespiratory fitness. We studied home-based interval exercise training (IET) in 40 patients prior to autologous (N=20) or allogeneic (N=20) HCT. Each session consisted of 5, three-minute intervals of walking, jogging, or cycling at 65-95% maximal heart rate (MHR) with 3 minutes of low intensity exercise (<65% MHR) between intervals. Participants were asked to perform sessions at least 3 times weekly. The duration of the intervention was at least 6 weeks, depending on each patient’s scheduled transplantation date. Cardiorespiratory fitness was assessed from a peak oxygen consumption test (VO2peak) and a 6 minute walk (6MWD) before and after the intervention period. For the autologous HCT cohort, improvements in VO2peak (p=0.12) and 6MWD (p=0.19) were not statistically significant. For the allogeneic cohort, the median VO2peak improvement was 3.7ml/kg*min (p=0.005) and the median 6MWD improvement was 34 meters (p=0.006). Home-based, interval exercise training can be performed prior to HCT and has the potential to improve cardiorespiratory fitness. PMID:26999467

  9. Personalized home-based interval exercise training may improve cardiorespiratory fitness in cancer patients preparing to undergo hematopoietic cell transplantation.

    PubMed

    Wood, W A; Phillips, B; Smith-Ryan, A E; Wilson, D; Deal, A M; Bailey, C; Meeneghan, M; Reeve, B B; Basch, E M; Bennett, A V; Shea, T C; Battaglini, C L

    2016-07-01

    Impaired cardiorespiratory fitness is associated with inferior survival in patients preparing to undergo hematopoietic cell transplantation (HCT). Exercise training based on short, higher intensity intervals has the potential to efficiently improve cardiorespiratory fitness. We studied home-based interval exercise training (IET) in 40 patients before autologous (N=20) or allogeneic (N=20) HCT. Each session consisted of five, 3 min intervals of walking, jogging or cycling at 65-95% maximal heart rate (MHR) with 3 min of low-intensity exercise (<65% MHR) between intervals. Participants were asked to perform sessions at least three times weekly. The duration of the intervention was at least 6 weeks, depending on each patient's scheduled transplantation date. Cardiorespiratory fitness was assessed from a peak oxygen consumption test (VO2peak) and a 6 min walk (6MWD) before and after the intervention period. For the autologous HCT cohort, improvements in VO2peak (P=0.12) and 6MWD (P=0.19) were not statistically significant. For the allogeneic cohort, the median VO2peak improvement was 3.7 ml/kg min (P=0.005) and the median 6MWD improvement was 34 m (P=0.006). Home-based IET can be performed before HCT and has the potential to improve cardiorespiratory fitness. PMID:26999467

  10. Heritability of personality: A meta-analysis of behavior genetic studies.

    PubMed

    Vukasović, Tena; Bratko, Denis

    2015-07-01

    The aim of this meta-analysis was to systematize available findings in the field of personality heritability and test for possible moderator effects of study design, type of personality model, and gender on heritability estimates. Study eligibility criteria were: personality model, behavior genetic study design, self-reported data, essential statistical indicators, and independent samples. A total of 134 primary studies with 190 potentially independent effect sizes were identified. After exclusion of studies that did not meet inclusion criteria and/or met 1 of the exclusion criteria, the final sample included 62 independent effect sizes, representing more than 100,000 participants of both genders and all ages. Data analyses were performed using the random-effects model, software program R package metafor. The average effect size was .40, indicating that 40% of individual differences in personality were due to genetic, while 60% are due to environmental influences. After correction for possible publication bias the conclusion was unaltered. Additional analyses showed that personality model and gender were not significant moderators of personality heritability estimate, while study design was a significant moderator with twin studies showing higher estimates, .47, compared to family and adoption studies, .22. Personality model also was not a significant moderator of heritability estimates for neuroticism or extraversion, 2 personality traits contained in most personality trait theories and/or models. This study is the first to empirically test and confirm moderator effect of study design on heritability estimates in the field of personality. Limitations of the study, as well as suggestion for future studies, are discussed. (PsycINFO Database Record

  11. Personality Mediation of Genetic Effects on Attention-Deficit/Hyperactivity Disorder

    ERIC Educational Resources Information Center

    Martel, Michelle M.; Nikolas, Molly; Jernigan, Katherine; Friderici, Karen; Nigg, Joel T.

    2010-01-01

    Personality traits may be viable candidates for mediators of the relationship between genetic risk and ADHD. Participants were 578 children (331 boys; 320 children with ADHD) between the ages of six and 18. Parents and teachers completed a comprehensive, multi-stage diagnostic procedure to assess ADHD and comorbid disorders. Mother completed the…

  12. The Stroop Color-Word Test: Genetic and Environmental Influences; Reading, Mental Ability, and Personality Correlates.

    ERIC Educational Resources Information Center

    Johnson, Wendy; Bouchard, Thomas J., Jr.; Segal, Nancy L.; Keyes, Margaret; Samuels, Jay

    2003-01-01

    Evaluates prior findings of reading, mental ability, and personality correlates of Stroop Color-Word Test (SCWT) scores. In spite of significant correlations between the SCWT scores and selected measures of mental ability, genetic influence on SCWT scores was relatively unaffected when the influences of correlated ability measures were removed.…

  13. Genetic and environmental influences on personality profile stability: unraveling the normativeness problem.

    PubMed

    Bleidorn, Wiebke; Kandler, Christian; Riemann, Rainer; Angleitner, Alois; Spinath, Frank M

    2012-08-01

    The present study is the first to disentangle the genetic and environmental influences on personality profile stability. Spanning a period of 10 years, we analyzed the etiology of 3 aspects of profile stability (overall profile stability, distinctive profile stability, and profile normativeness) using self- and peer reports from 539 identical and 280 fraternal twins reared together. This 3-wave multirater twin design allowed us to estimate the genetic and environmental effects on latent true scores of the 3 aspects of profile stability while controlling for method effects and random error. Consistent biometric results were only found for profile normativeness, whereas overall and distinctive profile stability scores turned out to be biased. Over time, we found personality profile normativeness to be relatively stable. This stability was due to both stable genetic and nonshared environmental effects, whereas innovative variance was completely explained by nonshared environmental effects. Our findings emphasize the importance of distinguishing between the different aspects of profile stability, since overall and distinctive stability scores are likely biased due to the normativeness problem. Yet indicating a person's similarity to the average person, the normativeness of a personality profile itself has a psychological meaning beyond socially desirable responding.

  14. Behavioral and molecular genetic contributions to a dimensional classification of personality disorder.

    PubMed

    Livesley, W John

    2005-04-01

    This article examines the possible contribution of behavioral and molecular genetic research to the development of a dimensional classification of personality disorder. It is argued that the results of molecular studies are too preliminary to have immediate nosological significance. However, behavioral genetic methods could play a useful role in constructing a classification that reflects the genetic architecture of personality disorder. It is also argued that the best approach to constructing a valid classification would be to integrate behavioral genetic methods with the construct validation framework used in test construction. An integrative approach is proposed that seeks to combine constructs from alternative dimensional models. It is suggested that strong evidence of a four-dimensional structure to personality disorder provides a way to organize a preliminary model. An initial set of primary traits to define these secondary domains would then be compiled from existing models and refined using a combination of traditional psychometric analyses and behavioral genetic methods. It is concluded that an etiologically based classification is feasible for the DSM-V.

  15. 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.

  16. 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

  17. Heritability estimates of the Big Five personality traits based on common genetic variants.

    PubMed

    Power, R A; Pluess, M

    2015-07-14

    According to twin studies, the Big Five personality traits have substantial heritable components explaining 40-60% of the variance, but identification of associated genetic variants has remained elusive. Consequently, knowledge regarding the molecular genetic architecture of personality and to what extent it is shared across the different personality traits is limited. Using genomic-relatedness-matrix residual maximum likelihood analysis (GREML), we here estimated the heritability of the Big Five personality factors (extraversion, agreeableness, conscientiousness, neuroticism and openness for experience) in a sample of 5011 European adults from 527,469 single-nucleotide polymorphisms across the genome. We tested for the heritability of each personality trait, as well as for the genetic overlap between the personality factors. We found significant and substantial heritability estimates for neuroticism (15%, s.e. = 0.08, P = 0.04) and openness (21%, s.e. = 0.08, P < 0.01), but not for extraversion, agreeableness and conscientiousness. The bivariate analyses showed that the variance explained by common variants entirely overlapped between neuroticism and openness (rG = 1.00, P < 0.001), despite low phenotypic correlation (r = - 0.09, P < 0.001), suggesting that the remaining unique heritability may be determined by rare or structural variants. As far as we are aware of, this is the first study estimating the shared and unique heritability of all Big Five personality traits using the GREML approach. Findings should be considered exploratory and suggest that detectable heritability estimates based on common variants is shared between neuroticism and openness to experiences.

  18. Heritability estimates of the Big Five personality traits based on common genetic variants

    PubMed Central

    Power, R A; Pluess, M

    2015-01-01

    According to twin studies, the Big Five personality traits have substantial heritable components explaining 40–60% of the variance, but identification of associated genetic variants has remained elusive. Consequently, knowledge regarding the molecular genetic architecture of personality and to what extent it is shared across the different personality traits is limited. Using genomic-relatedness-matrix residual maximum likelihood analysis (GREML), we here estimated the heritability of the Big Five personality factors (extraversion, agreeableness, conscientiousness, neuroticism and openness for experience) in a sample of 5011 European adults from 527 469 single-nucleotide polymorphisms across the genome. We tested for the heritability of each personality trait, as well as for the genetic overlap between the personality factors. We found significant and substantial heritability estimates for neuroticism (15%, s.e.=0.08, P=0.04) and openness (21%, s.e.=0.08, P<0.01), but not for extraversion, agreeableness and conscientiousness. The bivariate analyses showed that the variance explained by common variants entirely overlapped between neuroticism and openness (rG=1.00, P <0.001), despite low phenotypic correlation (r=−0.09, P <0.001), suggesting that the remaining unique heritability may be determined by rare or structural variants. As far as we are aware of, this is the first study estimating the shared and unique heritability of all Big Five personality traits using the GREML approach. Findings should be considered exploratory and suggest that detectable heritability estimates based on common variants is shared between neuroticism and openness to experiences. PMID:26171985

  19. Prevalence and Type of BRCA Mutations in Hispanics Undergoing Genetic Cancer Risk Assessment in the Southwestern United States: A Report From the Clinical Cancer Genetics Community Research Network

    PubMed Central

    Weitzel, Jeffrey N.; Clague, Jessica; Martir-Negron, Arelis; Ogaz, Raquel; Herzog, Josef; Ricker, Charité; Jungbluth, Chelsy; Cina, Cheryl; Duncan, Paul; Unzeitig, Gary; Saldivar, J. Salvador; Beattie, Mary; Feldman, Nancy; Sand, Sharon; Port, Danielle; Barragan, Deborah I.; John, Esther M.; Neuhausen, Susan L.; Larson, Garrett P.

    2013-01-01

    Purpose To determine the prevalence and type of BRCA1 and BRCA2 (BRCA) mutations among Hispanics in the Southwestern United States and their potential impact on genetic cancer risk assessment (GCRA). Patients and Methods Hispanics (n = 746) with a personal or family history of breast and/or ovarian cancer were enrolled in an institutional review board–approved registry and received GCRA and BRCA testing within a consortium of 14 clinics. Population-based Hispanic breast cancer cases (n = 492) enrolled in the Northern California Breast Cancer Family Registry, negative by sequencing for BRCA mutations, were analyzed for the presence of the BRCA1 ex9-12del large rearrangement. Results Deleterious BRCA mutations were detected in 189 (25%) of 746 familial clinic patients (124 BRCA1, 65 BRCA2); 21 (11%) of 189 were large rearrangement mutations, of which 62% (13 of 21) were BRCA1 ex9-12del. Nine recurrent mutations accounted for 53% of the total. Among these, BRCA1 ex9-12del seems to be a Mexican founder mutation and represents 10% to 12% of all BRCA1 mutations in clinic- and population-based cohorts in the United States. Conclusion BRCA mutations were prevalent in the largest study of Hispanic breast and/or ovarian cancer families in the United States to date, and a significant proportion were large rearrangement mutations. The high frequency of large rearrangement mutations warrants screening in every case. We document the first Mexican founder mutation (BRCA1 ex9-12del), which, along with other recurrent mutations, suggests the potential for a cost-effective panel approach to ancestry-informed GCRA. PMID:23233716

  20. Genetic and environmental factors underlying comorbid bulimic behaviours and alcohol use disorders: a moderating role for the dysregulated personality cluster?

    PubMed

    Slane, Jennifer D; Klump, Kelly L; McGue, Matthew; Iacono, G

    2014-05-01

    Women with bulimia nervosa (BN) frequently have co-occurring alcohol use disorders (AUDs). Studies of shared genetic transmission of these disorders have been mixed. Personality heterogeneity among individuals with BN may explain discrepant findings. Cluster analysis has characterized women with BN in groups on the basis of personality profiles. One group, the Dysregulated cluster, characterized largely by behavioural disinhibition and emotional dysregulation may be more closely linked etiologically to AUDs. This study examined whether genetic associations between BN and AUDs are the strongest among the Dysregulated cluster. Symptoms of BN and AUDs were assessed in female twins at ages 17 and 25 years from the Minnesota Twin Family Study. Personality clusters were defined using the Multidimensional Personality Questionnaire. Twin moderation models suggested small-to-moderate common genetic transmission between BN and AUDs. However, shared genetic effects did not differ by personality cluster. Findings suggest that personality clusters are unlikely to account for inconsistent findings regarding their shared aetiology.

  1. Assessment of genetic variability of fish personality traits using rainbow trout isogenic lines.

    PubMed

    Millot, Sandie; Péan, Samuel; Labbé, Laurent; Kerneis, Thierry; Quillet, Edwige; Dupont-Nivet, Mathilde; Bégout, Marie-Laure

    2014-07-01

    The study of inter-individual variability of personality in fish is a growing field of interest but the genetic basis of this complex trait is still poorly investigated due to the difficulty in controlling fish genetic origin and life history. When available, isogenic lines that allow performing independent tests on different individuals having identical genotype constitute a very relevant experimental material to disentangle the genetic and environmental components of behavioural individuality. We took advantage of heterozygous isogenic lines to investigate the personality in rainbow trout through the analysis of their reactions to different experimental situations. To this end, seven to ten rainbow trout isogenic lines were screened for their spatial exploratory behaviour, their flight response toward a stressor and their risk taking behaviour. Results showed that some lines seemed less sensitive to new events or environmental changes and could be defined as low responsive, while others were very sensitive and defined as high responsive. The use of isogenic lines highlighted the importance of genetic factors, in combination with life history, in the expression of personality in domesticated fish.

  2. Personal Factors Associated with Reported Benefits of Huntington Disease Family History or Genetic Testing

    PubMed Central

    Williams, Janet K.; Erwin, Cheryl; Juhl, Andrew; Mills, James; Brossman, Bradley

    2010-01-01

    Aims: A family history of Huntington disease (HD) or receiving results of HD predictive genetic testing can influence individual well-being, family relationships, and social interactions in positive and negative ways. The aim of this study was to examine benefits reported by people with an HD family history or those who have undergone predictive HD testing, as well as the personal variables associated with perceived benefits. Methods: Seventy-four of 433 people completing the International Response of a Sample Population to HD risk (I-RESPOND-HD) survey reported benefits. Knowledge and understanding was perceived as the most common benefit from participants in both groups. The next most frequent perceived benefits from a family history were connecting with others and achieving life meaning and insights. The next most common perceived benefits from genetic testing were life planning and social support. The least common perceived benefit for both groups was renewed hope and optimism. Older age and spirituality were significantly associated with benefits in both groups. Conclusions: Perceptions of benefit may not be as likely until later years in people with prodromal HD. A developed sense of spirituality is identified as a personal resource associated with the perception of benefit from genetic testing for HD. Associations among spirituality, perceived benefits, and other indicators of personal and family well-being may be useful in genetic counseling and health care of people with prodromal HD. PMID:20722493

  3. Discriminatory power of common genetic variants in personalized breast cancer diagnosis

    NASA Astrophysics Data System (ADS)

    Wu, Yirong; Abbey, Craig K.; Liu, Jie; Ong, Irene; Peissig, Peggy; Onitilo, Adedayo A.; Fan, Jun; Yuan, Ming; Burnside, Elizabeth S.

    2016-03-01

    Technology advances in genome-wide association studies (GWAS) has engendered optimism that we have entered a new age of precision medicine, in which the risk of breast cancer can be predicted on the basis of a person's genetic variants. The goal of this study is to evaluate the discriminatory power of common genetic variants in breast cancer risk estimation. We conducted a retrospective case-control study drawing from an existing personalized medicine data repository. We collected variables that predict breast cancer risk: 153 high-frequency/low-penetrance genetic variants, reflecting the state-of-the-art GWAS on breast cancer, mammography descriptors and BI-RADS assessment categories in the Breast Imaging Reporting and Data System (BI-RADS) lexicon. We trained and tested naïve Bayes models by using these predictive variables. We generated ROC curves and used the area under the ROC curve (AUC) to quantify predictive performance. We found that genetic variants achieved comparable predictive performance to BI-RADS assessment categories in terms of AUC (0.650 vs. 0.659, p-value = 0.742), but significantly lower predictive performance than the combination of BI-RADS assessment categories and mammography descriptors (0.650 vs. 0.751, p-value < 0.001). A better understanding of relative predictive capability of genetic variants and mammography data may benefit clinicians and patients to make appropriate decisions about breast cancer screening, prevention, and treatment in the era of precision medicine.

  4. Between personal and relational privacy: understanding the work of informed consent in cancer genetics in Brazil.

    PubMed

    Goldim, José Roberto; Gibbon, Sahra

    2015-07-01

    Drawing from perspectives of both bioethics and anthropology, this article explores how the boundaries between personal and relational privacy are negotiated by patients and practitioners in the context of an emerging domain of cancer genetics in Brazil. It reflects on the place of informed consent in the history of bioethics in North America in contrast to the development of bioethics in Brazil and the particular social cultural context in which consent is sought in Brazilian public health care. Making use of empirical research with families and individuals receiving genetic counselling related to increased genetic risk for cancer, in genetic clinics in southern Brazil, it examines how informed consent is linked to the necessary movement between personal and relational privacy. The paper illustrates the value of a particular tool known as a 'sociogram' to examine the complex interpersonal dynamics that arise in negotiating informed consent at the interface between the family and the individual in Brazil. The paper, therefore, points to the scope of further interdisciplinary exchanges between anthropology and bioethics, confronting the new challenges that arise in the context of medical genetics in developing country.

  5. Genetic determinants in head and neck squamous cell carcinoma and their influence on global personalized medicine

    PubMed Central

    Michmerhuizen, Nicole L.; Birkeland, Andrew C.; Bradford, Carol R.; Brenner, J. Chad

    2016-01-01

    While sequencing studies have provided an improved understanding of the genetic landscape of head and neck squamous cell carcinomas (HNSCC), there remains a significant lack of genetic data derived from non-Caucasian cohorts. Additionally, there is wide variation in HNSCC incidence and mortality worldwide both between and within various geographic regions. These epidemiologic differences are in part accounted for by varying exposure to environmental risk factors such as tobacco, alcohol, high risk human papilloma viruses and betel quid. However, inherent genetic factors may also play an important role in this variability. As limited sequencing data is available for many populations, the involvement of unique genetic factors in HNSCC pathogenesis from epidemiologically diverse groups is unknown. Here, we review current knowledge about the epidemiologic, environmental, and genetic variation in HNSCC cohorts globally and discuss future studies necessary to further our understanding of these differences. Long-term, a more complete understanding of the genetic drivers found in diverse HNSCC cohorts may help the development of personalized medicine protocols for patients with rare or complex genetic events. PMID:27551333

  6. Genetic determinants in head and neck squamous cell carcinoma and their influence on global personalized medicine.

    PubMed

    Michmerhuizen, Nicole L; Birkeland, Andrew C; Bradford, Carol R; Brenner, J Chad

    2016-05-01

    While sequencing studies have provided an improved understanding of the genetic landscape of head and neck squamous cell carcinomas (HNSCC), there remains a significant lack of genetic data derived from non-Caucasian cohorts. Additionally, there is wide variation in HNSCC incidence and mortality worldwide both between and within various geographic regions. These epidemiologic differences are in part accounted for by varying exposure to environmental risk factors such as tobacco, alcohol, high risk human papilloma viruses and betel quid. However, inherent genetic factors may also play an important role in this variability. As limited sequencing data is available for many populations, the involvement of unique genetic factors in HNSCC pathogenesis from epidemiologically diverse groups is unknown. Here, we review current knowledge about the epidemiologic, environmental, and genetic variation in HNSCC cohorts globally and discuss future studies necessary to further our understanding of these differences. Long-term, a more complete understanding of the genetic drivers found in diverse HNSCC cohorts may help the development of personalized medicine protocols for patients with rare or complex genetic events. PMID:27551333

  7. Is there a genetic correlation between general factors of intelligence and personality?

    PubMed

    Loehlin, John C; Bartels, Meike; Boomsma, Dorret I; Bratko, Denis; Martin, Nicholas G; Nichols, Robert C; Wright, Margaret J

    2015-06-01

    We tested a hypothesis that there is no genetic correlation between general factors of intelligence and personality, despite both having been selected for in human evolution. This was done using twin samples from Australia, the United States, the Netherlands, Great Britain, and Croatia, comprising altogether 1,748 monozygotic and 1,329 same-sex dizygotic twin pairs. Although parameters in the model-fitting differed among the twin samples, the genetic correlation between the two general factors could be set to zero, with a better fit if the U.S. sample was excepted.

  8. Addictive behaviors and addiction-prone personality traits: associations with a dopamine multilocus genetic profile.

    PubMed

    Davis, Caroline; Loxton, Natalie J

    2013-07-01

    The purpose of this study was to examine reward-related genetic risk for addictive behaviors in a healthy community sample (n=217) of men and women. We tested a mediation model predicting that a quantitative multilocus genetic profile score - reflecting the additive effects of alleles known to confer relatively increased dopamine signaling in the ventral striatum - would relate positively to a composite measure of addictive behaviors, and that this association would be mediated by personality traits consistently associated with addiction disorders. Our model was strongly supported by the data, and accounted for 24% of the variance in addictive behaviors. These data suggest that brain reward processes tend to exert their influence on addiction risk by their role in the development of relatively stable personality traits associated with addictive behaviors.

  9. Genetic and Environmental Contributions to Personality Trait Stability and Change Across Adolescence: Results From a Japanese Twin Sample.

    PubMed

    Kawamoto, Tetsuya; Endo, Toshihiko

    2015-10-01

    We examined developmental trends and sources of stability and change in adolescent personality by using twin data collected from 1981 to 2010 (273 monozygotic (MZ) and 48 dizygotic (DZ) twin pairs) from a secondary school affiliated with the University of Tokyo. Phenotypic analyses showed high rank-order stability and substantial mean-level increases in neuroticism and declines in extraversion over the adolescent years. Longitudinal bivariate genetic analyses revealed that the best-fitting model for adolescent personality includes additive genetic and non-shared environmental influences. Heritability estimates ranged approximately from 0.30 to 0.60. Additionally, three-year stability in adolescent personality was influenced mainly by genetic factors, and there were both genetic and environmental innovations in mid-adolescence. Our findings suggest that both genetic and environmental effects have significant roles in the etiology of personality development across adolescence.

  10. Life events as environmental States and genetic traits and the role of personality: a longitudinal twin study.

    PubMed

    Kandler, Christian; Bleidorn, Wiebke; Riemann, Rainer; Angleitner, Alois; Spinath, Frank M

    2012-01-01

    The occurrence of many life events is not entirely random but genetically influenced. The current study examined the sources underlying the stability or recurrence of life events and the developmental interplay between personality traits and life events. In a longitudinal study of 338 adult twin pairs we estimated (1) the genetic and environmental sources of continuity in aggregates of life events, (2) the sources through which personality influences the experience of life events, and (3) the sources through which life events influence personality. Unlike personality which showed both genetic and environmental influences on substantial continuity over time, stability of life events was moderate and mainly influenced by genetic factors. Significant associations between personality and life events were specific to certain personality traits and qualitative aspects of life events (controllable positive, controllable negative, and less controllable negative), primarily directional from personality to life events, and basically genetically mediated. Controlled for these genetic associations, we also found some small and basically environmentally mediated effects of life events on personality traits. The results support the concept of genotype-environment correlation as a propulsive mechanism of development.

  11. The contribution of genetics and early rearing experiences to hierarchical personality dimensions in chimpanzees (Pan troglodytes)

    PubMed Central

    Latzman, Robert D.; Freeman, Hani D.; Schapiro, Steven J.; Hopkins, William D.

    2015-01-01

    A reliable literature finds that traits are related to each other in an organized hierarchy encompassing various conceptualizations of personality (e.g., Big Three, Five Factor Model). Recent work suggests the potential of a similar organization among our closest nonhuman relative, chimpanzees (Pan troglodytes), with significant links to neurobiology suggesting an evolutionarily- and neurobiologically-based hierarchical structure of personality. The current study investigated this hierarchical structure, the heritability of the various personality dimensions across levels of the hierarchy, and associations with early social rearing experience in a large sample (N = 238) of socially-housed, captive chimpanzees residing in two independent colonies of apes. Results provide support for a hierarchical structure of personality in chimpanzees with significant associations with early rearing experiences. Further, heritabilities of the various dimensions varied by early rearing, with affective dimensions found to be significantly heritable among mother-reared apes, while personality dimensions were largely independent of relatedness among the nursery-reared apes. Taken together, these findings provide evidence for the influence of both genetic and environmental factors on personality profiles across levels of the hierarchy, supporting the importance of considering environmental variation in models of quantitative trait evolution. PMID:25915132

  12. The contribution of genetics and early rearing experiences to hierarchical personality dimensions in chimpanzees (Pan troglodytes).

    PubMed

    Latzman, Robert D; Freeman, Hani D; Schapiro, Steven J; Hopkins, William D

    2015-11-01

    A reliable literature finds that traits are related to each other in an organized hierarchy encompassing various conceptualizations of personality (e.g., Big Three, five-factor model). Recent work suggests the potential of a similar organization among our closest nonhuman relative, chimpanzees (Pan troglodytes), with significant links to neurobiology suggesting an evolutionarily and neurobiologically based hierarchical structure of personality. The current study investigated this hierarchical structure, the heritability of the various personality dimensions across levels of the hierarchy, and associations with early social rearing experience in a large sample (N = 238) of socially housed, captive chimpanzees residing in 2 independent colonies of apes. Results provide support for a hierarchical structure of personality in chimpanzees with significant associations with early rearing experiences. Further, heritabilities of the various dimensions varied by early rearing, with affective dimensions found to be significantly heritable among mother-reared apes, whereas personality dimensions were largely independent of relatedness among the nursery-reared apes. Taken together, these findings provide evidence for the influence of both genetic and environmental factors on personality profiles across levels of the hierarchy, supporting the importance of considering environmental variation in models of quantitative trait evolution.

  13. Genetic influences on response to novel objects and dimensions of personality in Papio baboons.

    PubMed

    Johnson, Zachary; Brent, Linda; Alvarenga, Juan Carlos; Comuzzie, Anthony G; Shelledy, Wendy; Ramirez, Stephanie; Cox, Laura; Mahaney, Michael C; Huang, Yung-Yu; Mann, J John; Kaplan, Jay R; Rogers, Jeffrey

    2015-03-01

    Behavioral variation within and between populations and species of the genus Papio has been studied extensively, but little is known about the genetic causes of individual- or population-level differences. This study investigates the influence of genetic variation on personality (sometimes referred to as temperament) in baboons and identifies a candidate gene partially responsible for the variation in that phenotype. To accomplish these goals, we examined individual variation in response to both novel objects and an apparent novel social partner (using a mirror test) among pedigreed baboons (n = 578) from the Southwest National Primate Research Center. We investigated the frequency and duration of individual behaviors in response to novel objects and used multivariate factor analysis to identify trait-like dimensions of personality. Exploratory factor analysis identified two distinct dimensions of personality within this population. Factor 1 accounts for 46.8 % of the variance within the behavioral matrix, and consists primarily of behaviors related to the "boldness" of the subject. Factor 2 accounts for 18.8 % of the variation, and contains several "anxiety" like behaviors. Several specific behaviors, and the two personality factors, were significantly heritable, with the factors showing higher heritability than most individual behaviors. Subsequent analyses show that the behavioral reactions observed in the test protocol are associated with animals' social behavior observed later in their home social groups. Finally we used linkage analysis to map quantitative trait loci for the measured phenotypes. Single nucleotide polymorphisms in a positional candidate gene (SNAP25) are associated with variation in one of the personality factors, and CSF levels of homovanillic acid and 3-methoxy-4-hydroxyphenylglycol. This study documents heritable variation in personality among baboons and suggests that sequence variation in SNAP25 may influence differences in behavior and

  14. Can the classification of personality disorders be based on behavior genetics? A comment on South and DeYoung (2013).

    PubMed

    Skodol, Andrew E; Krueger, Robert F

    2013-07-01

    Comments on the article by S. C. South and N. J. DeYoung (see record 2012-01744-001). This commentary examines how behavior genetic research can be used to inform the revision of personality disorders (PDs) during the transition from DSM-IV to DSM-5. Although supportive of the proposal put forth by the work group that extreme personality traits need to be distinguished from personality disorder by the presence of disorganization in personality structure and function, South and DeYoung note the absence of behavior genetics data on the levels of personality functioning and the new general criteria for personality disorder that incorporate impairment in personality functioning as the "A criterion." They also note, however, that literature supporting this type of definition with its focus on aspects of self-concept and interpersonal relations is rapidly growing.

  15. Behavior genetics of personality disorders: informing classification and conceptualization in DSM-5.

    PubMed

    South, Susan C; DeYoung, Nathaniel J

    2013-07-01

    Personality pathology is currently captured in the Diagnostic and Statistical Manual through 10 categorical personality disorder (PD) diagnoses grouped into three descriptive clusters. This classification system has been criticized by many for using discrete categories and arbitrary thresholds when making clinical decisions. To address these critiques, the DSM-5 Personality and Personality Disorders Work Group has put forth a proposal that significantly alters the structure and content of the DSM-IV PD section. If this DSM-5 Work Group has conducted its own systematic review of the empirical literature, this review has not been released or made widely available. As such, it is up to the psychology community at large to determine how well the suggested changes align with findings from extant PD research. The current article joins this effort by addressing the contribution of behavior genetic findings to the revision process for classification of PDs in DSM-5. First, we provide a brief review of the history of PD classification in the DSM. Next, we present an overview and rationale for each of the five major suggested changes to PD diagnoses. For each suggested change, we outline the available evidence from behavior genetics and interpretations of these findings. Finally, we offer a summary of considerations for PD classification as the DSM-5 moves forward. Review of the behavior genetics literature suggests that several features of the DSM-5 proposal, including the elimination of 4 PDs, merging clinical disorders and PDs on a single axis, and the implementation of a trait rating system, require significantly greater explication before a product is finalized.

  16. Genetic identification of missing persons: DNA analysis of human remains and compromised samples.

    PubMed

    Alvarez-Cubero, M J; Saiz, M; Martinez-Gonzalez, L J; Alvarez, J C; Eisenberg, A J; Budowle, B; Lorente, J A

    2012-01-01

    Human identification has made great strides over the past 2 decades due to the advent of DNA typing. Forensic DNA typing provides genetic data from a variety of materials and individuals, and is applied to many important issues that confront society. Part of the success of DNA typing is the generation of DNA databases to help identify missing persons and to develop investigative leads to assist law enforcement. DNA databases house DNA profiles from convicted felons (and in some jurisdictions arrestees), forensic evidence, human remains, and direct and family reference samples of missing persons. These databases are essential tools, which are becoming quite large (for example the US Database contains 10 million profiles). The scientific, governmental and private communities continue to work together to standardize genetic markers for more effective worldwide data sharing, to develop and validate robust DNA typing kits that contain the reagents necessary to type core identity genetic markers, to develop technologies that facilitate a number of analytical processes and to develop policies to make human identity testing more effective. Indeed, DNA typing is integral to resolving a number of serious criminal and civil concerns, such as solving missing person cases and identifying victims of mass disasters and children who may have been victims of human trafficking, and provides information for historical studies. As more refined capabilities are still required, novel approaches are being sought, such as genetic testing by next-generation sequencing, mass spectrometry, chip arrays and pyrosequencing. Single nucleotide polymorphisms offer the potential to analyze severely compromised biological samples, to determine the facial phenotype of decomposed human remains and to predict the bioancestry of individuals, a new focus in analyzing this type of markers.

  17. Discriminatory power of common genetic variants in personalized breast cancer diagnosis

    PubMed Central

    Wu, Yirong; Abbey, Craig K.; Liu, Jie; Ong, Irene; Peissig, Peggy; Onitilo, Adedayo A.; Fan, Jun; Yuan, Ming; Burnside, Elizabeth S.

    2016-01-01

    Technology advances in genome-wide association studies (GWAS) has engendered optimism that we have entered a new age of precision medicine, in which the risk of breast cancer can be predicted on the basis of a person’s genetic variants. The goal of this study is to evaluate the discriminatory power of common genetic variants in breast cancer risk estimation. We conducted a retrospective case-control study drawing from an existing personalized medicine data repository. We collected variables that predict breast cancer risk: 153 high-frequency/low-penetrance genetic variants, reflecting the state-of-the-art GWAS on breast cancer, mammography descriptors and BI-RADS assessment categories in the Breast Imaging Reporting and Data System (BI-RADS) lexicon. We trained and tested naïve Bayes models by using these predictive variables. We generated ROC curves and used the area under the ROC curve (AUC) to quantify predictive performance. We found that genetic variants achieved comparable predictive performance to BI-RADS assessment categories in terms of AUC (0.650 vs. 0.659, p-value = 0.742), but significantly lower predictive performance than the combination of BI-RADS assessment categories and mammography descriptors (0.650 vs. 0.751, p-value < 0.001). A better understanding of relative predictive capability of genetic variants and mammography data may benefit clinicians and patients to make appropriate decisions about breast cancer screening, prevention, and treatment in the era of precision medicine. PMID:27279675

  18. Genetic data: The new challenge of personalized medicine, insights for rheumatoid arthritis patients.

    PubMed

    Goulielmos, George N; Zervou, Maria I; Myrthianou, Effie; Burska, Agata; Niewold, Timothy B; Ponchel, Frederique

    2016-06-01

    Rapid advances in genotyping technology, analytical methods, and the establishment of large cohorts for population genetic studies have resulted in a large new body of information about the genetic basis of human rheumatoid arthritis (RA). Improved understanding of the root pathogenesis of the disease holds the promise of improved diagnostic and prognostic tools based upon this information. In this review, we summarize the nature of new genetic findings in human RA, including susceptibility loci and gene-gene and gene-environment interactions, as well as genetic loci associated with sub-groups of patients and those associated with response to therapy. Possible uses of these data are discussed, such as prediction of disease risk as well as personalized therapy and prediction of therapeutic response and risk of adverse events. While these applications are largely not refined to the point of clinical utility in RA, it seems likely that multi-parameter datasets including genetic, clinical, and biomarker data will be employed in the future care of RA patients.

  19. [Gender differences in genetic and environmental etiology of gender role personality (BSRI)].

    PubMed

    Sasaki, Shoko; Yamagata, Shinji; Shikishima, Chizuru; Ozaki, Koken; Ando, Juko

    2009-10-01

    This study investigated the possible effects of genetic and environmental gender differences in effect on individual differences by using the Bem Sex Role Inventory (BSRI) with twins. A sex/gender-limitation analysis, a behavior genetics methodology was used to the following: (a) effects of gender-specific genes, (b) gender differences in quantitative genetic effects, (c) effects of gender-specific shared environment, (d) gender differences of quantitative shared environment, and (e) gender differences of quantitative nonshared environment. Participants were adolescent and adult twins, including 111 identical male pairs, 241 identical female pairs, 36 fraternal male pairs, 65 fraternal female pairs, and 58 opposite-gender pairs. The results indicated that although masculinity and femininity were explained by genetic factors to some extent, there were no significant gender differences in the genetic factors. Moreover, because our data did not support a model which explained gender differences in the effects of specific common environment factors, no evidence was found to support the prenatal hormonal hypothesis or the existence of parenting which encouraged children's gender role personality.

  20. Translating personalized medicine using new genetic technologies in clinical practice: the ethical issues

    PubMed Central

    Ormond, Kelly E; Cho, Mildred K

    2014-01-01

    The integration of new genetic technologies into clinical practice holds great promise for the personalization of medical care, particularly the use of large-scale DNA sequencing for genome-wide genetic testing. However, these technologies also yield unprecedented amounts of information whose clinical implications are not fully understood, and we are still developing technical standards for measuring sequence accuracy. These technical and clinical challenges raise ethical issues that are similar to but qualitatively different from those that we are accustomed to dealing with for traditional medical genetics. The sheer amount of information afforded by genome sequencing requires rethinking of how to implement core ethical principles including, but not limited to: informed consent, privacy and data ownership and sharing, technology regulation, issues of access, particularly as new technology is integrated into clinical practice, and issues of potential stigma and impact on perceptions of disability. In this article, we will review the issues of informed consent, privacy, data ownership and technology regulation as they relate to the emerging field of personalized medicine and genomics. PMID:25221608

  1. Plasmacytoid, conventional, and monocyte-derived dendritic cells undergo a profound and convergent genetic reprogramming during their maturation

    PubMed Central

    Vu Manh, Thien-Phong; Alexandre, Yannick; Baranek, Thomas; Crozat, Karine; Dalod, Marc

    2013-01-01

    DCs express receptors sensing microbial, danger or cytokine signals, which when triggered in combination drive DC maturation and functional polarization. Maturation was proposed to result from a discrete number of modifications in conventional DCs (cDCs), in contrast to a cell-fate conversion in plasmacytoid DCs (pDCs). cDC maturation is generally assessed by measuring cytokine production and membrane expression of MHC class II and co-stimulation molecules. pDC maturation complexity was demonstrated by functional genomics. Here, pDCs and cDCs were shown to undergo profound and convergent changes in their gene expression programs in vivo during viral infection. This observation was generalized to other stimulation conditions and DC subsets, by public microarray data analyses, PCR confirmation of selected gene expression profiles, and gene regulatory sequence bioinformatics analyses. Thus, maturation is a complex process similarly reshaping all DC subsets, including through the induction of a core set of NF-κB- or IFN-stimulated genes irrespective of stimuli. PMID:23553052

  2. Left or right? Sources of political orientation: the roles of genetic factors, cultural transmission, assortative mating, and personality.

    PubMed

    Kandler, Christian; Bleidorn, Wiebke; Riemann, Rainer

    2012-03-01

    In this study, we used an extended twin family design to investigate the influences of genetic and cultural transmission as well as different sources of nonrandom mating on 2 core aspects of political orientation: acceptance of inequality and rejecting system change. In addition, we studied the sources of phenotypic links between Big Five personality traits and political beliefs using self- and other reports. Data of 1,992 individuals (224 monozygotic and 166 dizygotic twin pairs, 92 unmatched twins, 530 spouses of twins, 268 fathers, and 322 mothers) were analyzed. Genetically informative analyses showed that political attitudes are genetically but not environmentally transmitted from parents to offspring and that a substantial proportion of this genetic variance can be accounted for by genetic variance in personality traits. Beyond genetic effects and genotypic assortative mating, generation-specific environmental sources act to increase twins' and spouses' resemblance in political beliefs. The results suggest multiple sources of political orientations in a modern democracy. PMID:21988277

  3. Left or right? Sources of political orientation: the roles of genetic factors, cultural transmission, assortative mating, and personality.

    PubMed

    Kandler, Christian; Bleidorn, Wiebke; Riemann, Rainer

    2012-03-01

    In this study, we used an extended twin family design to investigate the influences of genetic and cultural transmission as well as different sources of nonrandom mating on 2 core aspects of political orientation: acceptance of inequality and rejecting system change. In addition, we studied the sources of phenotypic links between Big Five personality traits and political beliefs using self- and other reports. Data of 1,992 individuals (224 monozygotic and 166 dizygotic twin pairs, 92 unmatched twins, 530 spouses of twins, 268 fathers, and 322 mothers) were analyzed. Genetically informative analyses showed that political attitudes are genetically but not environmentally transmitted from parents to offspring and that a substantial proportion of this genetic variance can be accounted for by genetic variance in personality traits. Beyond genetic effects and genotypic assortative mating, generation-specific environmental sources act to increase twins' and spouses' resemblance in political beliefs. The results suggest multiple sources of political orientations in a modern democracy.

  4. Translating genetic discoveries to improvements in cardiovascular care: the path to personalized medicine.

    PubMed

    Hall, Jennifer L

    2008-03-01

    Research and development has provided us with several solutions to reduce morbidity and mortality of cardiovascular disease. More solutions are anticipated in the areas of clinical medicine, personal handheld devices, and DNA technology that will continue to enhance the era of personalized medicine. Genome-wide association studies have recently identified genetic variants on chromosome 9 (interval 9p21) and chromosome 4 (4q25) that confer increased risk for myocardial infarction and atrial fibrillation, respectively. The regions on these chromosomes containing the SNPs associated with disease contain no known genes - creating a challenge for scientists. Unraveling the code on these chromosomes may reveal a deeper insight into the mechanisms underlying disease and the design of new therapeutics to prevent or slow the progression of the disease. PMID:20559956

  5. Do personality traits moderate the manifestation of type 2 diabetes genetic risk?☆

    PubMed Central

    Čukić, Iva; Mõttus, René; Luciano, Michelle; Starr, John M; Weiss, Alexander; Deary, Ian J

    2015-01-01

    Objective. To test whether personality traits moderate type 2 diabetes (T2D) genetic risk. Methods. Using a large community-dwelling sample (n = 837, Mage = 69.59 ± 0.85 years, 49% males) we fitted a series of linear regression models predicting glycated haemoglobin (HbA1c) from T2D polygenic risk — aggregation of small individual effects of a large number of single nucleotide polymorphisms (SNPs) — and five personality traits. We tested the main effects of personality traits and their interactions with T2D polygenic risk score, controlling for age and sex. The models in the final set were adjusted for cognitive ability, highest educational qualification, and occupational class. Results. Lower levels of openness were associated with heightened levels of HbA1c (β = − 0.014, p = .032). There was a significant interaction between T2D polygenic risk score and agreeableness: lower agreeableness was related to a stronger association between T2D polygenic risk and HbA1c (β = − 0.08, p = .021). In the model adjusted for cognitive ability, the main effect of openness was not significant (β = − 0.08, p = .057). The interaction between agreeableness and T2D polygenic risk was still present after controlling for cognitive ability and socioeconomic status indicators, and the interaction between conscientiousness and polygenic risk score was also significant: lower conscientiousness was associated with a stronger association between T2D polygenic risk and HbA1c levels (β = 0.09, p = .04). Conclusions. Personality may be associated with markers of diabetes, and may moderate the expression of its genetic risk. PMID:26213352

  6. Human Urine-Derived Renal Progenitors for Personalized Modeling of Genetic Kidney Disorders.

    PubMed

    Lazzeri, Elena; Ronconi, Elisa; Angelotti, Maria Lucia; Peired, Anna; Mazzinghi, Benedetta; Becherucci, Francesca; Conti, Sara; Sansavini, Giulia; Sisti, Alessandro; Ravaglia, Fiammetta; Lombardi, Duccio; Provenzano, Aldesia; Manonelles, Anna; Cruzado, Josep M; Giglio, Sabrina; Roperto, Rosa Maria; Materassi, Marco; Lasagni, Laura; Romagnani, Paola

    2015-08-01

    The critical role of genetic and epigenetic factors in the pathogenesis of kidney disorders is gradually becoming clear, and the need for disease models that recapitulate human kidney disorders in a personalized manner is paramount. In this study, we describe a method to select and amplify renal progenitor cultures from the urine of patients with kidney disorders. Urine-derived human renal progenitors exhibited phenotype and functional properties identical to those purified from kidney tissue, including the capacity to differentiate into tubular cells and podocytes, as demonstrated by confocal microscopy, Western blot analysis of podocyte-specific proteins, and scanning electron microscopy. Lineage tracing studies performed with conditional transgenic mice, in which podocytes are irreversibly tagged upon tamoxifen treatment (NPHS2.iCreER;mT/mG), that were subjected to doxorubicin nephropathy demonstrated that renal progenitors are the only urinary cell population that can be amplified in long-term culture. To validate the use of these cells for personalized modeling of kidney disorders, renal progenitors were obtained from (1) the urine of children with nephrotic syndrome and carrying potentially pathogenic mutations in genes encoding for podocyte proteins and (2) the urine of children without genetic alterations, as validated by next-generation sequencing. Renal progenitors obtained from patients carrying pathogenic mutations generated podocytes that exhibited an abnormal cytoskeleton structure and functional abnormalities compared with those obtained from patients with proteinuria but without genetic mutations. The results of this study demonstrate that urine-derived patient-specific renal progenitor cultures may be an innovative research tool for modeling of genetic kidney disorders.

  7. Heritability and genetic correlations of personality traits in a wild population of yellow-bellied marmots (Marmota flaviventris).

    PubMed

    Petelle, M B; Martin, J G A; Blumstein, D T

    2015-10-01

    Describing and quantifying animal personality is now an integral part of behavioural studies because individually distinctive behaviours have ecological and evolutionary consequences. Yet, to fully understand how personality traits may respond to selection, one must understand the underlying heritability and genetic correlations between traits. Previous studies have reported a moderate degree of heritability of personality traits, but few of these studies have either been conducted in the wild or estimated the genetic correlations between personality traits. Estimating the additive genetic variance and covariance in the wild is crucial to understand the evolutionary potential of behavioural traits. Enhanced environmental variation could reduce heritability and genetic correlations, thus leading to different evolutionary predictions. We estimated the additive genetic variance and covariance of docility in the trap, sociability (mirror image stimulation), and exploration and activity in two different contexts (open-field and mirror image simulation experiments) in a wild population of yellow-bellied marmots (Marmota flaviventris). We estimated both heritability of behaviours and of personality traits and found nonzero additive genetic variance in these traits. We also found nonzero maternal, permanent environment and year effects. Finally, we found four phenotypic correlations between traits, and one positive genetic correlation between activity in the open-field test and sociability. We also found permanent environment correlations between activity in both tests and docility and exploration in the MIS test. This is one of a handful of studies to adopt a quantitative genetic approach to explain variation in personality traits in the wild and, thus, provides important insights into the potential variance available for selection.

  8. Heritability and genetic correlations of personality traits in a wild population of yellow-bellied marmots (Marmota flaviventris).

    PubMed

    Petelle, M B; Martin, J G A; Blumstein, D T

    2015-10-01

    Describing and quantifying animal personality is now an integral part of behavioural studies because individually distinctive behaviours have ecological and evolutionary consequences. Yet, to fully understand how personality traits may respond to selection, one must understand the underlying heritability and genetic correlations between traits. Previous studies have reported a moderate degree of heritability of personality traits, but few of these studies have either been conducted in the wild or estimated the genetic correlations between personality traits. Estimating the additive genetic variance and covariance in the wild is crucial to understand the evolutionary potential of behavioural traits. Enhanced environmental variation could reduce heritability and genetic correlations, thus leading to different evolutionary predictions. We estimated the additive genetic variance and covariance of docility in the trap, sociability (mirror image stimulation), and exploration and activity in two different contexts (open-field and mirror image simulation experiments) in a wild population of yellow-bellied marmots (Marmota flaviventris). We estimated both heritability of behaviours and of personality traits and found nonzero additive genetic variance in these traits. We also found nonzero maternal, permanent environment and year effects. Finally, we found four phenotypic correlations between traits, and one positive genetic correlation between activity in the open-field test and sociability. We also found permanent environment correlations between activity in both tests and docility and exploration in the MIS test. This is one of a handful of studies to adopt a quantitative genetic approach to explain variation in personality traits in the wild and, thus, provides important insights into the potential variance available for selection. PMID:26214760

  9. Association between genetic polymorphisms in the serotonergic system and comorbid personality disorders among patients with first-episode depression.

    PubMed

    Bukh, Jens D; Bock, Camilla; Kessing, Lars V

    2014-06-01

    Studies on the association between genetic polymorphisms and personality disorders have provided inconsistent results. Using the "enriched sample method," the authors of the present study aimed to assess the association between polymorphisms in the serotonergic transmitter system and comorbid personality disorders in patients recently diagnosed with first-episode depression. A total of 290 participants were systematically recruited via the Danish Psychiatric Central Research Register. Diagnoses of personality disorders were assessed by a SCID-II interview, and polymorphisms in the genes encoding the serotonin transporter, serotonin receptors 1A, 2A, 2C, and tryptophan hydroxylase 1 were genotyped. The authors found a significant effect of the length polymorphism in the serotonin transporter gene (5-HTTLPR) on cluster B personality disorder (mainly borderline disorder), but no influence on cluster C personality disorder, and no associations between other polymorphisms and personality disorders. The study adds evidence to the effect of the serotonin transporter gene specifically on cluster B personality disorders.

  10. Cerebral metabolic and cognitive decline in persons at genetic risk for Alzheimer's disease

    PubMed Central

    Small, Gary W.; Ercoli, Linda M.; Silverman, Daniel H. S.; Huang, S.-C.; Komo, Scott; Bookheimer, Susan Y.; Lavretsky, Helen; Miller, Karen; Siddarth, Prabha; Rasgon, Natalie L.; Mazziotta, John C.; Saxena, Sanjaya; Wu, H. M.; Mega, Michael S.; Cummings, Jeffrey L.; Saunders, Ann M.; Pericak-Vance, Margaret A.; Roses, Allen D.; Barrio, Jorge R.; Phelps, Michael E.

    2000-01-01

    The major known genetic risk for Alzheimer's disease (AD), apolipoprotein E-4 (APOE-4), is associated with lowered parietal, temporal, and posterior cingulate cerebral glucose metabolism in patients with a clinical diagnosis of AD. To determine cognitive and metabolic decline patterns according to genetic risk, we investigated cerebral metabolic rates by using positron emission tomography in middle-aged and older nondemented persons with normal memory performance. A single copy of the APOE-4 allele was associated with lowered inferior parietal, lateral temporal, and posterior cingulate metabolism, which predicted cognitive decline after 2 years of longitudinal follow-up. For the 20 nondemented subjects followed longitudinally, memory performance scores did not decline significantly, but cortical metabolic rates did. In APOE-4 carriers, a 4% left posterior cingulate metabolic decline was observed, and inferior parietal and lateral temporal regions demonstrated the greatest magnitude (5%) of metabolic decline after 2 years. These results indicate that the combination of cerebral metabolic rates and genetic risk factors provides a means for preclinical AD detection that will assist in response monitoring during experimental treatments. PMID:10811879

  11. Personality.

    PubMed

    Funder, D C

    2001-01-01

    Personality psychology is as active today as at any point in its history. The classic psychoanalytic and trait paradigms are active areas of research, the behaviorist paradigm has evolved into a new social-cognitive paradigm, and the humanistic paradigm is a basis of current work on cross-cultural psychology. Biology and evolutionary theory have also attained the status of new paradigms for personality. Three challenges for the next generation of research are to integrate these disparate approaches to personality (particularly the trait and social-cognitive paradigms), to remedy the imbalance in the person-situation-behavior triad by conceptualizing the basic properties of situations and behaviors, and to add to personality psychology's thin inventory of basic facts concerning the relations between personality and behavior.

  12. Genetic influences of angiotensin-converting enzyme inhibitor response: an opportunity for personalizing therapy?

    PubMed

    Brugts, Jasper J; Simoons, Maarten L

    2012-08-01

    The angiotensin-converting enzyme (ACE) inhibitors are a cornerstone drug therapy in the current treatment of patients with hypertension, stable coronary artery disease and heart failure. Individualizing therapy of ACE inhibitors with clinical risk factors in low-risk patients with stable coronary artery disease is not feasible. The concept of pharmacogenetics, by studying patient factors more individually, offers a first glimpse in the quest for the 'holy grail' of personalized medicine. As such, genetic targets in the direct pharmacodynamic pathway of ACE inhibitors, the renin-angiotensin-aldosterone system, is a plausible candidate for such an approach. In the past few decades, results of pharmacogenetic studies were scarce and inconsistent. However, recently the first reports of larger pharmacogenetic studies are now confirming that the 'pharmacogenetic approach' might be feasible in the future. The current review focuses on the recent developments in pharmacogenetic research in response to ACE inhibitors in patients with stable coronary artery disease. PMID:23030290

  13. Cancer Subclonal Genetic Architecture as a Key to Personalized Medicine1

    PubMed Central

    Rehemtulla, Alnawaz

    2013-01-01

    The future of personalized oncological therapy will likely rely on evidence-based medicine to integrate all of the available evidence to delineate the most efficacious treatment option for the patient. To undertake evidence-based medicine through use of targeted therapy regimens, identification of the specific underlying causative mutation(s) driving growth and progression of a patient's tumor is imperative. Although molecular subtyping is important for planning and treatment, intraclonal genetic diversity has been recently highlighted as having significant implications for biopsy-based prognosis. Overall, delineation of the clonal architecture of a patient's cancer and how this will impact on the selection of the most efficacious therapy remain a topic of intense interest. PMID:24403863

  14. Personalized preventive medicine: genetics and the response to regular exercise in preventive interventions.

    PubMed

    Bouchard, Claude; Antunes-Correa, Ligia M; Ashley, Euan A; Franklin, Nina; Hwang, Paul M; Mattsson, C Mikael; Negrao, Carlos E; Phillips, Shane A; Sarzynski, Mark A; Wang, Ping-Yuan; Wheeler, Matthew T

    2015-01-01

    Regular exercise and a physically active lifestyle have favorable effects on health. Several issues related to this theme are addressed in this report. A comment on the requirements of personalized exercise medicine and in-depth biological profiling along with the opportunities that they offer is presented. This is followed by a brief overview of the evidence for the contributions of genetic differences to the ability to benefit from regular exercise. Subsequently, studies showing that mutations in TP53 influence exercise capacity in mice and humans are succinctly described. The evidence for effects of exercise on endothelial function in health and disease also is covered. Finally, changes in cardiac and skeletal muscle in response to exercise and their implications for patients with cardiac disease are summarized. Innovative research strategies are needed to define the molecular mechanisms involved in adaptation to exercise and to translate them into useful clinical and public health applications. PMID:25559061

  15. Is the genetic structure of human personality universal? A cross-cultural twin study from North America, Europe, and Asia.

    PubMed

    Yamagata, Shinji; Suzuki, Atsunobu; Ando, Juko; Ono, Yutaka; Kijima, Nobuhiko; Yoshimura, Kimio; Ostendorf, Fritz; Angleitner, Alois; Riemann, Rainer; Spinath, Frank M; Livesley, W John; Jang, Kerry L

    2006-06-01

    This study examined whether universality of the 5-factor model (FFM) of personality operationalized by the Revised NEO Personality Inventory is due to genetic influences that are invariant across diverse nations. Factor analyses were conducted on matrices of phenotypic, genetic, and environmental correlations estimated in a sample of 1,209 monozygotic and 701 dizygotic twin pairs from Canada, Germany, and Japan. Five genetic and environmental factors were extracted for each sample. High congruence coefficients were observed when phenotypic, genetic, and environmental factors were compared in each sample as well as when each factor was compared across samples. These results suggest that the FFM has a solid biological basis and may represent a common heritage of the human species.

  16. From animal models to human disease: a genetic approach for personalized medicine in ALS.

    PubMed

    Picher-Martel, Vincent; Valdmanis, Paul N; Gould, Peter V; Julien, Jean-Pierre; Dupré, Nicolas

    2016-01-01

    Amyotrophic Lateral Sclerosis (ALS) is the most frequent motor neuron disease in adults. Classical ALS is characterized by the death of upper and lower motor neurons leading to progressive paralysis. Approximately 10 % of ALS patients have familial form of the disease. Numerous different gene mutations have been found in familial cases of ALS, such as mutations in superoxide dismutase 1 (SOD1), TAR DNA-binding protein 43 (TDP-43), fused in sarcoma (FUS), C9ORF72, ubiquilin-2 (UBQLN2), optineurin (OPTN) and others. Multiple animal models were generated to mimic the disease and to test future treatments. However, no animal model fully replicates the spectrum of phenotypes in the human disease and it is difficult to assess how a therapeutic effect in disease models can predict efficacy in humans. Importantly, the genetic and phenotypic heterogeneity of ALS leads to a variety of responses to similar treatment regimens. From this has emerged the concept of personalized medicine (PM), which is a medical scheme that combines study of genetic, environmental and clinical diagnostic testing, including biomarkers, to individualized patient care. In this perspective, we used subgroups of specific ALS-linked gene mutations to go through existing animal models and to provide a comprehensive profile of the differences and similarities between animal models of disease and human disease. Finally, we reviewed application of biomarkers and gene therapies relevant in personalized medicine approach. For instance, this includes viral delivering of antisense oligonucleotide and small interfering RNA in SOD1, TDP-43 and C9orf72 mice models. Promising gene therapies raised possibilities for treating differently the major mutations in familial ALS cases. PMID:27400686

  17. Personalization.

    ERIC Educational Resources Information Center

    Shore, Rebecca Martin

    1996-01-01

    Describes how a typical high school in Huntington Beach, California, curbed disruptive student behavior by personalizing the school experience for "problem" students. Through mostly volunteer efforts, an adopt-a-kid program was initiated that matched kids' learning styles to adults' personality styles and resulted in fewer suspensions and numerous…

  18. Placebo analgesia and reward processing: Integrating genetics, personality, and intrinsic brain activity

    PubMed Central

    Yu, Rongjun; Gollub, Randy L; Vangel, Mark; Kaptchuk, Ted; Smoller, Jordan W.; Kong, Jian

    2014-01-01

    Our expectations about an event can strongly shape our subjective evaluation and actual experience of events. This ability, applied to the modulation of pain, has the potential to affect therapeutic analgesia substantially and constitutes a foundation for non-pharmacological pain relief. A typical example of such modulation is the placebo effect. Studies indicate that placebo may be regarded as a reward, and brain activity in the reward system is involved in this modulation process. In the present study, we combined resting state functional magnetic resonance imaging (rs-fMRI) measures, genotype at a functional COMT polymorphism (Val158Met), and personality measures in a model to predict the magnitude of placebo conditioning effect indicated by subjective pain rating reduction to calibrated noxious stimuli. We found that the regional homogeneity (ReHo), an index of local neural coherence, in the ventral striatum, was significantly associated with conditioning effects on pain rating changes. We also found that the number of Met alleles at the COMT polymorphism was linearly correlated to the suppression of pain. In a fitted regression model, we found the ReHo in the ventral striatum, COMT genotype, and Openness scores accounted for 59% of the variance in the change in pain ratings. The model was further tested using a separate data set from the same study. Our findings demonstrate the potential of combining resting state connectivity, genetic information and personality to predict placebo effect. PMID:24578196

  19. Genetics of borderline personality disorder: systematic review and proposal of an integrative model.

    PubMed

    Amad, Ali; Ramoz, Nicolas; Thomas, Pierre; Jardri, Renaud; Gorwood, Philip

    2014-03-01

    Borderline personality disorder (BPD) is one of the most common mental disorders and is characterized by a pervasive pattern of emotional lability, impulsivity, interpersonal difficulties, identity disturbances, and disturbed cognition. Here, we performed a systematic review of the literature concerning the genetics of BPD, including familial and twin studies, association studies, and gene-environment interaction studies. Moreover, meta-analyses were performed when at least two case-control studies testing the same polymorphism were available. For each gene variant, a pooled odds ratio (OR) was calculated using fixed or random effects models. Familial and twin studies largely support the potential role of a genetic vulnerability at the root of BPD, with an estimated heritability of approximately 40%. Moreover, there is evidence for both gene-environment interactions and correlations. However, association studies for BPD are sparse, making it difficult to draw clear conclusions. According to our meta-analysis, no significant associations were found for the serotonin transporter gene, the tryptophan hydroxylase 1 gene, or the serotonin 1B receptor gene. We hypothesize that such a discrepancy (negative association studies but high heritability of the disorder) could be understandable through a paradigm shift, in which "plasticity" genes (rather than "vulnerability" genes) would be involved. Such a framework postulates a balance between positive and negative events, which interact with plasticity genes in the genesis of BPD.

  20. 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.

  1. Genetic and environmental influences on personality trait stability and growth during the transition to adulthood: A three wave longitudinal study

    PubMed Central

    Hopwood, Christopher J.; Donnellan, M. Brent; Blonigen, Daniel M.; Krueger, Robert F.; McGue, Matt; Iacono, William G.; Burt, S. Alexandra

    2010-01-01

    During the transition to adulthood individuals typically settle into adult roles in love and work. This transition also involves significant changes in personality traits that are generally in the direction of greater maturity and increased stability. Competing hypotheses have been offered to account for these personality changes: the intrinsic maturation hypothesis suggests that change trajectories are endogenous, whereas the life-course hypothesis suggests that these changes occur because of transactions with the social environment. This study investigated the patterns and origins of personality trait changes from ages 17 to 29 using 3 waves of Multidimensional Personality Questionnaire data provided by twins. Results suggest that a) trait changes were more profound in the first relative to the second half of the transition to adulthood; b) traits tend to become more stable during the second half of this transition, with all the traits yielding retest correlations between .74 and .78; c) negative affectivity declined over time and constraint increased over time; minimal change was observed on agentic or communal aspects of positive affectivity; and d) both genetic and non-shared environmental factors accounted for personality changes. Overall, these genetically-informed results support a life-course perspective on personality development during the transition to adulthood. PMID:21244174

  2. Genetics, Genomics and Cancer Risk Assessment: State of the art and future directions in the era of personalized medicine

    PubMed Central

    Weitzel, Jeffrey N.; Blazer, Kathleen R.; MacDonald, Deborah J.; Culver, Julie O.; Offit, Kenneth

    2012-01-01

    Scientific and technologic advances are revolutionizing our approach to genetic cancer risk assessment, cancer screening and prevention, and targeted therapy, fulfilling the promise of personalized medicine. In this monograph we review the evolution of scientific discovery in cancer genetics and genomics, and describe current approaches, benefits and barriers to the translation of this information to the practice of preventive medicine. Summaries of known hereditary cancer syndromes and highly penetrant genes are provided and contrasted with recently-discovered genomic variants associated with modest increases in cancer risk. We describe the scope of knowledge, tools, and expertise required for the translation of complex genetic and genomic test information into clinical practice. The challenges of genomic counseling include the need for genetics and genomics professional education and multidisciplinary team training, the need for evidence-based information regarding the clinical utility of testing for genomic variants, the potential dangers posed by premature marketing of first-generation genomic profiles, and the need for new clinical models to improve access to and responsible communication of complex disease-risk information. We conclude that given the experiences and lessons learned in the genetics era, the multidisciplinary model of genetic cancer risk assessment and management will serve as a solid foundation to support the integration of personalized genomic information into the practice of cancer medicine. PMID:21858794

  3. ARTIFICIAL SELECTION ON RELATIVE BRAIN SIZE REVEALS A POSITIVE GENETIC CORRELATION BETWEEN BRAIN SIZE AND PROACTIVE PERSONALITY IN THE GUPPY

    PubMed Central

    Kotrschal, Alexander; Lievens, Eva JP; Dahlbom, Josefin; Bundsen, Andreas; Semenova, Svetlana; Sundvik, Maria; Maklakov, Alexei A; Winberg, Svante; Panula, Pertti; Kolm, Niclas; Morrow, E

    2014-01-01

    Animal personalities range from individuals that are shy, cautious, and easily stressed (a “reactive” personality type) to individuals that are bold, innovative, and quick to learn novel tasks, but also prone to routine formation (a “proactive” personality type). Although personality differences should have important consequences for fitness, their underlying mechanisms remain poorly understood. Here, we investigated how genetic variation in brain size affects personality. We put selection lines of large- and small-brained guppies (Poecilia reticulata), with known differences in cognitive ability, through three standard personality assays. First, we found that large-brained animals were faster to habituate to, and more exploratory in, open field tests. Large-brained females were also bolder. Second, large-brained animals excreted less cortisol in a stressful situation (confinement). Third, large-brained animals were slower to feed from a novel food source, which we interpret as being caused by reduced behavioral flexibility rather than lack of innovation in the large-brained lines. Overall, the results point toward a more proactive personality type in large-brained animals. Thus, this study provides the first experimental evidence linking brain size and personality, an interaction that may affect important fitness-related aspects of ecology such as dispersal and niche exploration. PMID:24359469

  4. Artificial selection on relative brain size reveals a positive genetic correlation between brain size and proactive personality in the guppy.

    PubMed

    Kotrschal, Alexander; Lievens, Eva J P; Dahlbom, Josefin; Bundsen, Andreas; Semenova, Svetlana; Sundvik, Maria; Maklakov, Alexei A; Winberg, Svante; Panula, Pertti; Kolm, Niclas

    2014-04-01

    Animal personalities range from individuals that are shy, cautious, and easily stressed (a "reactive" personality type) to individuals that are bold, innovative, and quick to learn novel tasks, but also prone to routine formation (a "proactive" personality type). Although personality differences should have important consequences for fitness, their underlying mechanisms remain poorly understood. Here, we investigated how genetic variation in brain size affects personality. We put selection lines of large- and small-brained guppies (Poecilia reticulata), with known differences in cognitive ability, through three standard personality assays. First, we found that large-brained animals were faster to habituate to, and more exploratory in, open field tests. Large-brained females were also bolder. Second, large-brained animals excreted less cortisol in a stressful situation (confinement). Third, large-brained animals were slower to feed from a novel food source, which we interpret as being caused by reduced behavioral flexibility rather than lack of innovation in the large-brained lines. Overall, the results point toward a more proactive personality type in large-brained animals. Thus, this study provides the first experimental evidence linking brain size and personality, an interaction that may affect important fitness-related aspects of ecology such as dispersal and niche exploration. PMID:24359469

  5. Psychopathic Personality Traits and Environmental Contexts: Differential Correlates, Gender Differences, and Genetic Mediation

    PubMed Central

    Hicks, Brian M.; Carlson, Marie D.; Blonigen, Daniel M.; Patrick, Christopher J.; Iacono, William G.; MGue, Matt

    2011-01-01

    Theorists have speculated that primary psychopathy (or Factor 1 affective-interpersonal features) is prominently heritable whereas secondary psychopathy (or Factor 2 social deviance) is more environmentally determined. We tested this differential heritability hypothesis using a large adolescent twin sample. Trait-based proxies of primary and secondary psychopathic tendencies were assessed using Multidimensional Personality Questionnaire (MPQ; Tellegen & Waller, 2008) estimates of Fearless Dominance and Impulsive Antisociality, respectively (Benning et al., 2005). The environmental contexts of family, school, peers, and stressful life events were assessed using multiple raters and methods. Consistent with prior research, MPQ Impulsive Antisociality was robustly associated with each environmental risk factor, and these associations were significantly greater than those for MPQ Fearless Dominance. However, MPQ Fearless Dominance and Impulsive Antisociality exhibited similar heritability, and genetic effects mediated the associations between MPQ Impulsive Antisociality and the environmental measures. Results were largely consistent across male and female twins. We conclude that gene-environment correlations rather than main effects of genes and environments account for the differential environmental correlates of primary and secondary psychopathy. PMID:22452762

  6. Direct-to-Consumer Genetic Testing and Personal Genomics Services: A Review of Recent Empirical Studies

    PubMed Central

    Ostergren, Jenny

    2013-01-01

    Direct-to-consumer genetic testing (DTC-GT) has sparked much controversy and undergone dramatic changes in its brief history. Debates over appropriate health policies regarding DTC-GT would benefit from empirical research on its benefits, harms, and limitations. We review the recent literature (2011-present) and summarize findings across (1) content analyses of DTC-GT websites, (2) studies of consumer perspectives and experiences, and (3) surveys of relevant health care providers. Findings suggest that neither the health benefits envisioned by DTC-GT proponents (e.g., significant improvements in positive health behaviors) nor the worst fears expressed by its critics (e.g., catastrophic psychological distress and misunderstanding of test results, undue burden on the health care system) have materialized to date. However, research in this area is in its early stages and possesses numerous key limitations. We note needs for future studies to illuminate the impact of DTC-GT and thereby guide practice and policy regarding this rapidly evolving approach to personal genomics. PMID:24058877

  7. Psychopathic personality traits and environmental contexts: Differential correlates, gender differences, and genetic mediation.

    PubMed

    Hicks, Brian M; Carlson, Marie D; Blonigen, Daniel M; Patrick, Christopher J; Iacono, William G; Mgue, Matt

    2012-07-01

    Theorists have speculated that primary psychopathy (or Factor 1 affective-interpersonal features) is prominently heritable whereas secondary psychopathy (or Factor 2 social deviance) is more environmentally determined. We tested this differential heritability hypothesis using a large adolescent twin sample. Trait-based proxies of primary and secondary psychopathic tendencies were assessed using Multidimensional Personality Questionnaire (MPQ) estimates of Fearless Dominance and Impulsive Antisociality, respectively. The environmental contexts of family, school, peers, and stressful life events were assessed using multiple raters and methods. Consistent with prior research, MPQ Impulsive Antisociality was robustly associated with each environmental risk factor, and these associations were significantly greater than those for MPQ Fearless Dominance. However, MPQ Fearless Dominance and Impulsive Antisociality exhibited similar heritability, and genetic effects mediated the associations between MPQ Impulsive Antisociality and the environmental measures. Results were largely consistent across male and female twins. We conclude that gene-environment correlations rather than main effects of genes and environments account for the differential environmental correlates of primary and secondary psychopathy.

  8. Intrinsic and extrinsic religiousness: genetic and environmental influences and personality correlates.

    PubMed

    Bouchard, T J; McGue, M; Lykken, D; Tellegen, A

    1999-06-01

    This report presents findings for the Intrinsic (IR) and Extrinsic (ER) religiousness scales from the Minnesota Study of Twins Reared Apart. The scales were shown to be internally consistent, sufficiently distinct from the scales of the California Psychological Inventory and the Multidimensional Personality Questionnaire and unrelated to a number of measures of response style to justify treating them as distinct traits. The I scales also showed considerable evidence of construct validity in its correlations with religious fundamentalism and authoritarianism as assessed by the MMPI and Altemeyer's Right-Wing Authoritarianism scale. Data on IR and ER from 35 pairs of monozygotic twins reared apart (MZA) and 37 pairs of dizygotic twins reared apart (DZA) were fitted to a biometric model and demonstrated significant heritability (0.43 and 0.39), with a model containing genetic plus environmental factors fitting significantly better than a model containing only an environmental component. Twin similarity could not be explained by placement on a self-reported measure of family Moral Religious Emphasis as measured by the Family Environment Scale.

  9. Genes, Genetics, and Environment in Type 2 Diabetes: Implication in Personalized Medicine.

    PubMed

    Kaul, Nabodita; Ali, Sher

    2016-01-01

    Type 2 diabetes (T2D) is a multifactorial anomaly involving 57 genes located on 16 different chromosomes and 136 single nucleotide polymorphisms (SNPs). Ten genes are located on chromosome 1, followed by seven genes on chromosome 11 and six genes on chromosomes 3. Remaining chromosomes harbor two to five genes. Significantly, chromosomes 13, 14, 16, 18, 21, 22, X, and Y do not have any associated diabetogenic gene. Genetic components have their own pathways encompassing insulin secretion, resistance, signaling, and β-cell dysfunction. Environmental factors include epigenetic changes, nutrition, intrauterine surroundings, and obesity. In addition, ethnicity plays a role in conferring susceptibility to T2D. This scenario poses a challenge toward the development of biomarker for quick disease diagnosis or for generating a consensus to delineate different categories of T2D patients. We believe, before prescribing a generic drug, detailed genotypic information with the background of ethnicity and environmental factors may be taken into consideration. This nonconventional approach is envisaged to be more robust in the context of personalized medicine and perhaps would cause lot less burden on the patient ensuring better management of T2D.

  10. Is Variability in Mate Choice Similar for Intelligence and Personality Traits? Testing a Hypothesis about the Evolutionary Genetics of Personality

    ERIC Educational Resources Information Center

    Stone, Emily A.; Shackelford, Todd K.; Buss, David M.

    2012-01-01

    This study tests the hypothesis presented by Penke, Denissen, and Miller (2007a) that condition-dependent traits, including intelligence, attractiveness, and health, are universally and uniformly preferred as characteristics in a mate relative to traits that are less indicative of condition, including personality traits. We analyzed…

  11. Genetic and environmental sources of individual religiousness: the roles of individual personality traits and perceived environmental religiousness.

    PubMed

    Kandler, Christian; Riemann, Rainer

    2013-07-01

    In the current study, we examined the genetic and environmental sources of the links between individual religiousness and individual personality traits, perceived parental religiousness, and perceived peer religiousness. Data from 870 individuals (incl. 394 twin pairs) were analyzed. Variance in individual religiousness was significantly influenced by genetic effects, environmental influences shared by twins reared together, and individual-specific environmental influences. Individual religiousness showed significant associations with age, sex, specific personality traits (e.g., agreeableness, openness to values), and perceived religiousness of important social interaction partners, such as parents, best friends, and spouses. The links to personality traits were relatively small and primarily genetically mediated. The associations between individual religiousness and parental religiousness were substantial and mediated by shared environmental effects. These links significantly decreased across age accompanying a significant decrease of shared environmental influences on individual religiousness. The correlations between individual religiousness and perceived religiousness of spouses and best friends were relatively moderate but increased with age. These associations were mediated by genetic as well as nonshared environmental sources accompanying an increase of nonshared environmental influences on individual religiousness with age. The results suggest that inter-individual differences in religiousness are due to multiple sources. PMID:23681197

  12. Maintenance of genetic variation in human personality: testing evolutionary models by estimating heritability due to common causal variants and investigating the effect of distant inbreeding.

    PubMed

    Verweij, Karin J H; Yang, Jian; Lahti, Jari; Veijola, Juha; Hintsanen, Mirka; Pulkki-Råback, Laura; Heinonen, Kati; Pouta, Anneli; Pesonen, Anu-Katriina; Widen, Elisabeth; Taanila, Anja; Isohanni, Matti; Miettunen, Jouko; Palotie, Aarno; Penke, Lars; Service, Susan K; Heath, Andrew C; Montgomery, Grant W; Raitakari, Olli; Kähönen, Mika; Viikari, Jorma; Räikkönen, Katri; Eriksson, Johan G; Keltikangas-Järvinen, Liisa; Lehtimäki, Terho; Martin, Nicholas G; Järvelin, Marjo-Riitta; Visscher, Peter M; Keller, Matthew C; Zietsch, Brendan P

    2012-10-01

    Personality traits are basic dimensions of behavioral variation, and twin, family, and adoption studies show that around 30% of the between-individual variation is due to genetic variation. There is rapidly growing interest in understanding the evolutionary basis of this genetic variation. Several evolutionary mechanisms could explain how genetic variation is maintained in traits, and each of these makes predictions in terms of the relative contribution of rare and common genetic variants to personality variation, the magnitude of nonadditive genetic influences, and whether personality is affected by inbreeding. Using genome-wide single nucleotide polymorphism (SNP) data from > 8000 individuals, we estimated that little variation in the Cloninger personality dimensions (7.2% on average) is due to the combined effect of common, additive genetic variants across the genome, suggesting that most heritable variation in personality is due to rare variant effects and/or a combination of dominance and epistasis. Furthermore, higher levels of inbreeding were associated with less socially desirable personality trait levels in three of the four personality dimensions. These findings are consistent with genetic variation in personality traits having been maintained by mutation-selection balance.

  13. Sensation seeking, peer deviance, and genetic influences on adolescent delinquency: Evidence for person-environment correlation and interaction.

    PubMed

    Mann, Frank D; Patterson, Megan W; Grotzinger, Andrew D; Kretsch, Natalie; Tackett, Jennifer L; Tucker-Drob, Elliot M; Harden, K Paige

    2016-07-01

    Both sensation seeking and affiliation with deviant peer groups are risk factors for delinquency in adolescence. In this study, we use a sample of adolescent twins (n = 549), 13 to 20 years old (M age = 15.8 years), in order to test the interactive effects of peer deviance and sensation seeking on delinquency in a genetically informative design. Consistent with a socialization effect, affiliation with deviant peers was associated with higher delinquency even after controlling for selection effects using a co-twin-control comparison. At the same time, there was evidence for person-environment correlation; adolescents with genetic dispositions toward higher sensation seeking were more likely to report having deviant peer groups. Genetic influences on sensation seeking substantially overlapped with genetic influences on adolescent delinquency. Finally, the environmentally mediated effect of peer deviance on adolescent delinquency was moderated by individual differences in sensation seeking. Adolescents reporting high levels of sensation seeking were more susceptible to deviant peers, a Person × Environment interaction. These results are consistent with both selection and socialization processes in adolescent peer relationships, and they highlight the role of sensation seeking as an intermediary phenotype for genetic risk for delinquency. (PsycINFO Database Record

  14. Selection of competent blastocysts for transfer by combining time-lapse monitoring and array CGH testing for patients undergoing preimplantation genetic screening: a prospective study with sibling oocytes

    PubMed Central

    2014-01-01

    Background Recent advances in time-lapse monitoring in IVF treatment have provided new morphokinetic markers for embryonic competence. However, there is still very limited information about the relationship between morphokinetic parameters, chromosomal compositions and implantation potential. Accordingly, this study aimed at investigating the effects of selecting competent blastocysts for transfer by combining time-lapse monitoring and array CGH testing on pregnancy and implantation outcomes for patients undergoing preimplantation genetic screening (PGS). Methods A total of 1163 metaphase II (MII) oocytes were retrieved from 138 PGS patients at a mean age of 36.6 ± 2.4 years. These sibling MII oocytes were then randomized into two groups after ICSI: 1) Group A, oocytes (n = 582) were cultured in the time-lapse system and 2) Group B, oocytes (n = 581) were cultured in the conventional incubator. For both groups, whole genomic amplification and array CGH testing were performed after trophectoderm biopsy on day 5. One to two euploid blastocysts within the most predictive morphokinetic parameters (Group A) or with the best morphological grade available (Group B) were selected for transfer to individual patients on day 6. Ongoing pregnancy and implantation rates were compared between the two groups. Results There were significant differences in clinical pregnancy rates between Group A and Group B (71.1% vs. 45.9%, respectively, p = 0.037). The observed implantation rate per embryo transfer significantly increased in Group A compared to Group B (66.2% vs. 42.4%, respectively, p = 0.011). Moreover, a significant increase in ongoing pregnancy rates was also observed in Group A compared to Group B (68.9% vs. 40.5%. respectively, p = 0.019). However, there was no significant difference in miscarriage rate between the time-lapse system and the conventional incubator (3.1% vs. 11.8%, respectively, p = 0.273). Conclusions This is the first prospective investigation using

  15. Treatment compliance and effectiveness in complex PTSD patients with co-morbid personality disorder undergoing stabilizing cognitive behavioral group treatment: a preliminary study

    PubMed Central

    Dorrepaal, Ethy; Thomaes, Kathleen; Smit, Johannes H.; Veltman, Dick J.; Hoogendoorn, Adriaan W.; van Balkom, Anton J. L. M.; Draijer, Nel

    2013-01-01

    Background In the empirical and clinical literature, complex posttraumatic stress disorder (PTSD) and personality disorders (PDs) are suggested to be predictive of drop-out or reduced treatment effectiveness in trauma-focused PTSD treatment. Objective In this study, we aimed to investigate if personality characteristics would predict treatment compliance and effectiveness in stabilizing complex PTSD treatment. Method In a randomized controlled trial on a 20-week stabilizing group cognitive behavioral treatment (CBT) for child-abuse-related complex PTSD, we included 71 patients of whom 38 were randomized to a psycho-educational and cognitive behavioral stabilizing group treatment. We compared the patients with few PD symptoms (adaptive) (N=14) with the non-adaptive patients (N=24) as revealed by a cluster analysis. Results We found that non-adaptive patients compared to the adaptive patients showed very low drop-out rates. Both non-adaptive patients, classified with highly different personality profiles “withdrawn” and “aggressive,” were equally compliant. With regard to symptom reduction, we found no significant differences between subtypes. Post-hoc, patients with a PD showed lower drop-out rates and higher effect sizes in terms of complex PTSD severity, especially on domains that affect regulation and interpersonal problems. Conclusions Contrary to our expectations, these preliminary findings indicate that this treatment is well tolerated by patients with a variety of personality pathology. Larger sample sizes are needed to study effectiveness for subgroups of complex PTSD patients. PMID:24224077

  16. Jumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 2. Fundamental Concepts in Genetic Epidemiology

    PubMed Central

    Li, Aihua; Meyre, David

    2014-01-01

    With the decrease in sequencing costs, personalized genome sequencing will eventually become common in medical practice. We therefore write this series of three reviews to help non-geneticist clinicians to jump into the fast-moving field of personalized medicine. In the first article of this series, we reviewed the fundamental concepts in molecular genetics. In this second article, we cover the key concepts and methods in genetic epidemiology including the classification of genetic disorders, study designs and their implementation, genetic marker selection, genotyping and sequencing technologies, gene identification strategies, data analyses and data interpretation. This review will help the reader critically appraise a genetic association study. In the next article, we will discuss the clinical applications of genetic epidemiology in the personalized medicine area. PMID:25598767

  17. Distribution of Human Immunodeficiency Virus Type 1 Protease and Reverse Transcriptase Mutation Patterns in 4,183 Persons Undergoing Genotypic Resistance Testing

    PubMed Central

    Rhee, Soo-Yon; Liu, Tommy; Ravela, Jaideep; Gonzales, Matthew J.; Shafer, Robert W.

    2004-01-01

    In a sample of 6,156 sequences from 4,183 persons, the top 30 patterns of protease inhibitor, nucleoside reverse transcriptase (RT) inhibitor, and nonnucleoside RT inhibitor mutations accounted for 55, 46, and 66%, respectively, of sequences with drug resistance mutations. Characterization of the phenotypic and clinical significance of these common patterns may lead to improved treatment recommendations for a large proportion of patients for whom antiretroviral therapy is failing. PMID:15273130

  18. Trait-based assessment of borderline personality disorder using the NEO Five-Factor Inventory: Phenotypic and genetic support.

    PubMed

    Few, Lauren R; Miller, Joshua D; Grant, Julia D; Maples, Jessica; Trull, Timothy J; Nelson, Elliot C; Oltmanns, Thomas F; Martin, Nicholas G; Lynskey, Michael T; Agrawal, Arpana

    2016-01-01

    [Correction Notice: An Erratum for this article was reported in Vol 28(1) of Psychological Assessment (see record 2015-54029-001). The FFI-BPD values for Sample 3 in Table 2 should read 1.42 (0.44), 0.83.] The aim of the current study was to examine the reliability and validity of a trait-based assessment of borderline personality disorder (BPD) using the NEO Five-Factor Inventory. Correlations between the Five-Factor Inventory-BPD composite (FFI-BPD) and explicit measures of BPD were examined across 6 samples, including undergraduate, community, and clinical samples. The median correlation was .60, which was nearly identical to the correlation between measures of BPD and a BPD composite generated from the full Revised NEO Personality Inventory (i.e., NEO-BPD; r = .61). Correlations between FFI-BPD and relevant measures of psychiatric symptomatology and etiology (e.g., childhood abuse, drug use, depression, and personality disorders) were also examined and compared to those generated using explicit measures of BPD and NEO-BPD. As expected, the FFI-BPD composite correlated most strongly with measures associated with high levels of Neuroticism, such as depression, anxiety, and emotion dysregulation, and the pattern of correlations generated using the FFI-BPD was highly similar to those generated using explicit measures of BPD and NEO-BPD. Finally, genetic analyses estimated that FFI-BPD is 44% heritable, which is comparable to meta-analytic research examining genetics associated with BPD, and revealed that 71% of the genetic influences are shared between FFI-BPD and a self-report measure assessing BPD (Personality Assessment Inventory-Borderline subscale; Morey, 1991). Generally, these results support the use of FFI-BPD as a reasonable proxy for BPD, which has considerable implications, particularly for potential gene-finding efforts in large, epidemiological datasets that include the NEO FFI.

  19. Trait-based assessment of borderline personality disorder using the NEO Five-Factor Inventory: Phenotypic and genetic support.

    PubMed

    Few, Lauren R; Miller, Joshua D; Grant, Julia D; Maples, Jessica; Trull, Timothy J; Nelson, Elliot C; Oltmanns, Thomas F; Martin, Nicholas G; Lynskey, Michael T; Agrawal, Arpana

    2016-01-01

    [Correction Notice: An Erratum for this article was reported in Vol 28(1) of Psychological Assessment (see record 2015-54029-001). The FFI-BPD values for Sample 3 in Table 2 should read 1.42 (0.44), 0.83.] The aim of the current study was to examine the reliability and validity of a trait-based assessment of borderline personality disorder (BPD) using the NEO Five-Factor Inventory. Correlations between the Five-Factor Inventory-BPD composite (FFI-BPD) and explicit measures of BPD were examined across 6 samples, including undergraduate, community, and clinical samples. The median correlation was .60, which was nearly identical to the correlation between measures of BPD and a BPD composite generated from the full Revised NEO Personality Inventory (i.e., NEO-BPD; r = .61). Correlations between FFI-BPD and relevant measures of psychiatric symptomatology and etiology (e.g., childhood abuse, drug use, depression, and personality disorders) were also examined and compared to those generated using explicit measures of BPD and NEO-BPD. As expected, the FFI-BPD composite correlated most strongly with measures associated with high levels of Neuroticism, such as depression, anxiety, and emotion dysregulation, and the pattern of correlations generated using the FFI-BPD was highly similar to those generated using explicit measures of BPD and NEO-BPD. Finally, genetic analyses estimated that FFI-BPD is 44% heritable, which is comparable to meta-analytic research examining genetics associated with BPD, and revealed that 71% of the genetic influences are shared between FFI-BPD and a self-report measure assessing BPD (Personality Assessment Inventory-Borderline subscale; Morey, 1991). Generally, these results support the use of FFI-BPD as a reasonable proxy for BPD, which has considerable implications, particularly for potential gene-finding efforts in large, epidemiological datasets that include the NEO FFI. PMID:25984635

  20. Motivation to Pursue Genetic Testing in Individuals with a Personal or Family History of Cardiac Events or Sudden Cardiac Death

    PubMed Central

    Erskine, Kathleen E.; Hidayatallah, Nadia Z.; Walsh, Christine A.; McDonald, Thomas V.; Cohen, Lilian; Marion, Robert W.; Dolan, Siobhan M.

    2014-01-01

    Genetic testing is becoming increasingly available for cardiac channelopathies, such as long QT syndrome and Brugada syndrome, which can lead to sudden cardiac death. Test results can be used to shape an individual’s medical management and to identify at-risk family members. In our qualitative study, all participants had a personal or family history of a diagnosed cardiac arrhythmia syndrome or sudden cardiac death. Open-ended interviews were conducted individually and in focus groups. Interviews were audio recorded, transcribed verbatim, and analyzed using a qualitative grounded-theory approach. Of 50 participants, 37 described their motivations for pursuing genetic testing for long QT syndrome or another cardiac channelopathy. Participants’ motivations included: to find an explanation for a family member’s sudden death, to relieve uncertainty regarding a diagnosis, to guide future medical management, to allay concern about children or other family members, and to comply with recommendations of physicians or family members. Perceived reasons not to pursue genetic testing included denial, fear, and lack of information. The genetic counseling and informed consent process can be enhanced by understanding and addressing an individual’s internal and external motivations either for or against pursuing genetic testing. PMID:24664857

  1. Motivation to pursue genetic testing in individuals with a personal or family history of cardiac events or sudden cardiac death.

    PubMed

    Erskine, Kathleen E; Hidayatallah, Nadia Z; Walsh, Christine A; McDonald, Thomas V; Cohen, Lilian; Marion, Robert W; Dolan, Siobhan M

    2014-10-01

    Genetic testing is becoming increasingly available for cardiac channelopathies, such as long QT syndrome and Brugada syndrome, which can lead to sudden cardiac death. Test results can be used to shape an individual's medical management and to identify at-risk family members. In our qualitative study, all participants had a personal or family history of a diagnosed cardiac arrhythmia syndrome or sudden cardiac death. Open-ended interviews were conducted individually and in focus groups. Interviews were audio recorded, transcribed verbatim, and analyzed using a qualitative grounded-theory approach. Of 50 participants, 37 described their motivations for pursuing genetic testing for long QT syndrome or another cardiac channelopathy. Participants' motivations included: to find an explanation for a family member's sudden death, to relieve uncertainty regarding a diagnosis, to guide future medical management, to allay concern about children or other family members, and to comply with recommendations of physicians or family members. Perceived reasons not to pursue genetic testing included denial, fear, and lack of information. The genetic counseling and informed consent process can be enhanced by understanding and addressing an individual's internal and external motivations either for or against pursuing genetic testing.

  2. Barriers to genetic testing among persons at risk for alpha-1 antitrypsin deficiency.

    PubMed

    Dickson, Marguerite R; Carter, Cindy L; Carpenter, Matthew J; McClure, Rebecca L; McGee, Dawn A; Zapka, Jane G; Strange, Charlie

    2008-12-01

    The alpha coded testing (ACT) study offers free and confidential testing for alpha-1 antitrypsin deficiency (AATD) and includes surveys to provide data to study the psychosocial correlates of genetic testing. The purpose of the current study is to better understand reasons why some individuals complete genetic testing while others do not. Survey measures were compared between participants who requested and returned a genetic test for AATD (n = 703), and a random sample of individuals who requested a test kit, but did not return it within 3 months of their request (n = 83). Increasing decile of age (odds ratio [OR] = 0.74 [95% confidence interval = 0.60-0.82]) and fingerstick fear (OR = 0.74 [0.60-0.93]) were associated with a decreased likelihood of returning the test, while assurance of confidentiality was associated with an increased likelihood (OR = 1.26 [1.01-1.57]) of returning the genetic test. General anxiety as measured by the Beck Anxiety Inventory, family functioning as measured by the general functioning subscale of the Family Assessment Device, and stress induced by genetic testing as measured by the Impact of Events Scale did not significantly differ between responder groups (p = not significant). Results of this study help characterize factors driving genetic testing in AATD and may offer insight into population responses with other genetic tests.

  3. 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

  4. Income, personality, and subjective financial well-being: the role of gender in their genetic and environmental relationships

    PubMed Central

    Zyphur, Michael J.; Li, Wen-Dong; Zhang, Zhen; Arvey, Richard D.; Barsky, Adam P.

    2015-01-01

    Increasing levels of financial inequality prompt questions about the relationship between income and well-being. Using a twins sample from the Survey of Midlife Development in the U. S. and controlling for personality as core self-evaluations (CSE), we found that men, but not women, had higher subjective financial well-being (SFWB) when they had higher incomes. This relationship was due to ‘unshared environmental’ factors rather than genes, suggesting that the effect of income on SFWB is driven by unique experiences among men. Further, for women and men, we found that CSE influenced income and SFWB, and that both genetic and environmental factors explained this relationship. Given the relatively small and male-specific relationship between income and SFWB, and the determination of both income and SFWB by personality, we propose that policy makers focus on malleable factors beyond merely income in order to increase SFWB, including financial education and building self-regulatory capacity. PMID:26483742

  5. Genetic Association Studies in Uterine Fibroids: Risk Alleles Presage the Path to Personalized Therapies.

    PubMed

    Gallagher, C Scott; Morton, Cynthia C

    2016-07-01

    Uterine leiomyoma (UL) is the most common tumor of the female reproductive system. Epidemiological analyses, including familial aggregation, twin studies, and racial discrepancies in disease prevalence and morbidity, indicated genetic factors influence risk for developing UL. Genome-wide association studies (GWASs) are a powerful method for identifying genetic variants that are associated with elevated risk for a common, complex disease. To date, three genome-wide scans for UL have been performed: a GWAS in Japanese women, a genome-wide linkage and association study in women of European decent, and an admixture-based analysis in African American women. Results from each of the three genome-wide scans performed have had varying success in identifying unique loci associated with predisposition to developing UL. Here, we address the evidence for a genetic basis for UL risk, discuss genetic association studies and their results, and identify challenges and future directions for UL GWAS analyses. PMID:27513025

  6. The genetic epidemiology of nonalcoholic fatty liver disease: toward a personalized medicine.

    PubMed

    Sookoian, Silvia; Pirola, Carlos J

    2012-08-01

    The understanding of the genetic bases of complex diseases such as nonalcoholic fatty liver disease opens new opportunities and challenges. This article explores new tools designed toward moving genomic data into clinical medicine, providing putative answers to more practical questions.

  7. Behavior Genetics and the Within-Person Variability of Daily Interpersonal Styles: The Heritability of Flux, Spin and Pulse

    PubMed Central

    Markey, Patrick M.; Racine, Sarah E.; Markey, Charlotte N.; Hopwood, Christopher J.; Keel, Pamela K.; Burt, S. Alexandra; Neale, Michael C.; Sisk, Cheryl L.; Boker, Steven M.; Klump, Kelly L.

    2014-01-01

    A classical twin study was used to estimate the magnitude of genetic and environmental influences on four measurements of within-person variability: dominance flux, warmth flux, spin and pulse. Flux refers to the variability of an individual’s interpersonal dominance and warmth. Spin measures changes in the tone of interpersonal styles and pulse measures changes in the intensity of interpersonal styles. Daily reports of interpersonal styles were collected from 494 same-sex female twins (142 monozygotic pairs and 105 dizygotic pairs) over 45 days. For dominance flux, warmth flux, and spin, genetic effects accounted for a larger proportion of variance (37%, 24%, and 30%, respectively) than shared environmental effects (14%, 13%, 0%, respectively), with the remaining variance due to the non-shared environment (62%, 50%, 70% respectively). Pulse appeared to be primarily influenced by the non-shared environment, although conclusions about the contribution of familial influences were difficult to draw from this study. PMID:25977748

  8. Legionella pneumophila strain associated with the first evidence of person-to-person transmission of Legionnaires’ disease: a unique mosaic genetic backbone

    PubMed Central

    Borges, Vítor; Nunes, Alexandra; Sampaio, Daniel A.; Vieira, Luís; Machado, Jorge; Simões, Maria J.; Gonçalves, Paulo; Gomes, João P.

    2016-01-01

    A first strong evidence of person-to-person transmission of Legionnaires’ Disease (LD) was recently reported. Here, we characterize the genetic backbone of this case-related Legionella pneumophila strain (“PtVFX/2014”), which also caused a large outbreak of LD. PtVFX/2014 is phylogenetically divergent from the most worldwide studied outbreak-associated L. pneumophila subspecies pneumophila serogroup 1 strains. In fact, this strain is also from serogroup 1, but belongs to the L. pneumophila subspecies fraseri. Its genomic mosaic backbone reveals eight horizontally transferred regions encompassing genes, for instance, involved in lipopolysaccharide biosynthesis or encoding virulence-associated Dot/Icm type IVB secretion system (T4BSS) substrates. PtVFX/2014 also inherited a rare ~65 kb pathogenicity island carrying virulence factors and detoxifying enzymes believed to contribute to the emergence of best-fitted strains in water reservoirs and in human macrophages, as well as a inter-species transferred (from L. oakridgensis) ~37.5 kb genomic island (harboring a lvh/lvr T4ASS cluster) that had never been found intact within L. pneumophila species. PtVFX/2014 encodes another lvh/lvr cluster near to CRISPR-associated genes, which may boost L. pneumophila transition from an environmental bacterium to a human pathogen. Overall, this unique genomic make-up may impact PtVFX/2014 ability to adapt to diverse environments, and, ultimately, to be transmitted and cause human disease. PMID:27196677

  9. Professional and personal attitudes about access and confidentiality in the genetic testing of children: a pilot study.

    PubMed

    Campbell, Elizabeth; Ross, Lainie Friedman

    2003-01-01

    The ability to perform predictive genetic testing of children raises ethical concerns regarding whether and when to test and the disclosure of results. Semi-structured interviews with a convenience sample of pediatricians (12) and geneticists (13) were conducted to see how they would react to parental requests for predictive genetic testing of their children, and their attitudes about testing their own children. We also asked about disclosure attitudes and practices for their patients' relatives and within their own families. Respondents would provide predictive genetic testing for most conditions, yet were less likely to seek this information about their own children. Respondents believed it was very important for patients to share some types of genetic information with relatives, and were directive in their counseling about intrafamilial disclosure, especially within their own families. Although respondents would almost never breach patient confidentiality, many would breach confidentiality within their own families. Health care professionals distinguish between their professional and personal roles with regard to issues of access and confidentiality in predictive testing of children. They are willing to provide greater access and more confidentiality for their patients than within their own families.

  10. "It's all very well reading the letters in the genome, but it's a long way to being able to write": Men's interpretations of undergoing genetic profiling to determine future risk of prostate cancer.

    PubMed

    Bancroft, Elizabeth K; Castro, Elena; Ardern-Jones, Audrey; Moynihan, Clare; Page, Elizabeth; Taylor, Natalie; Eeles, Rosalind A; Rowley, Emma; Cox, Karen

    2014-12-01

    A family history of prostate cancer (PC) is one of the main risk factors for the disease. A number of common single nucleotide polymorphisms (SNPs) that confer small but cumulatively substantial risks of PC have been identified, opening the possibility for the use of SNPs in PC risk stratification for targeted screening and prevention in the future. The objective of this study was to explore the psychosocial impact of receiving information about genetic risk of PC. The participants were men who had a family history of PC and were enrolled in a screening study providing research genetic profiling alongside screening for PC. A combination of questionnaires and in-depth interviews were used. Questionnaires were completed by men at two time points: both before and after joining the study and going through the genetic profiling process. The interviews were completed after all study process were complete and were analysed using a framework analysis. In total 95 men completed both questionnaires and 26 men were interviewed. A number of issues facing men at risk of PC were identified. The results fell into two main categories: personal relevance and societal relevance. The strength of men's innate beliefs about their risk, shaped by genetic and environmental assumptions, outweigh the information provided by genetic testing. Men felt genetic profile results would have future use for accessing prostate screening, being aware of symptoms and in communicating with others. The findings reinforce the importance of providing contextual information alongside genetic profiling test results, and emphasises the importance of the counselling process in providing genetic risk information. This research raises some key issues to facilitate clinical practice and future research related to the use of genetic profiling to determine risk of PC and other diseases. PMID:24980079

  11. Genetic Counselors’ Current Use of Personal Health Records-Based Family Histories in Genetic Clinics and Considerations for Their Future Adoption

    PubMed Central

    DeShazo, Jonathan P.; Bodurtha, Joann; Quillin, John; Creswick, Heather

    2016-01-01

    Given the widespread adoption of electronic medical records and recent emergence of electronic family history tools, we examined genetic counselors’ perspectives on the emerging technology of the personal health record (PHR)-based family history tool that links to an electronic medical record (EMR). Two-hundred thirty-three genetic counselors responded to an on-line survey eliciting current use of electronic family history (EFH) tools and familiarity with PHR-based family history tools. Additionally, after being shown a series of screen shots of a newly developed PHR-based family history tool based on the U.S. Surgeon General’s My Family Health Portrait (United States Department of Health and Human Services 2009), participants were surveyed about the perceived usefulness, ease of use, and impact on current workflow that this kind of tool would have in their practices. Eighty-three percent reported that their institution has an EMR, yet only 35 % have a dedicated space for family history. Eighty-two percent reported that less than 5 % of their patients have a PHR, and only 16 % have worked with patients who have a PHR. Seventy-two percent or more agreed that a PHR-based family history tool would facilitate communication, increase accuracy of information, ensure consistency in recording information, increase focus on actual counseling, reduce repetitive questions, improve efficiency, and increase the legibility and clarity. Our findings suggest that participants were familiar with existing EFH tools, but that the majority did not use them in practice. Genetic counselors’ adoption of such tools is limited due to non-existence of this kind of technology or inability to integrate it into their clinics. They are also strongly in favor of adopting a PHR-based family history tool in genetics clinics, but have practical concerns that must be addressed before the tool can be implemented. PMID:23242928

  12. Genetic Markers of the Host in Persons Living with HTLV-1, HIV and HCV Infections

    PubMed Central

    Assone, Tatiane; Paiva, Arthur; Fonseca, Luiz Augusto M.; Casseb, Jorge

    2016-01-01

    Human T-cell leukemia virus type 1 (HTLV-1), hepatitis C virus (HCV) and human immunodeficiency virus type 1 (HIV-1) are prevalent worldwide, and share similar means of transmission. These infections may influence each other in evolution and outcome, including cancer or immunodeficiency. Many studies have reported the influence of genetic markers on the host immune response against different persistent viral infections, such as HTLV-1 infection, pointing to the importance of the individual genetic background on their outcomes. However, despite recent advances on the knowledge of the pathogenesis of HTLV-1 infection, gaps in the understanding of the role of the individual genetic background on the progress to disease clinically manifested still remain. In this scenario, much less is known regarding the influence of genetic factors in the context of dual or triple infections or their influence on the underlying mechanisms that lead to outcomes that differ from those observed in monoinfection. This review describes the main factors involved in the virus–host balance, especially for some particular human leukocyte antigen (HLA) haplotypes, and other important genetic markers in the development of HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP) and other persistent viruses, such as HIV and HCV. PMID:26848682

  13. 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 ...

  14. Genetics of coronary heart disease: towards causal mechanisms, novel drug targets and more personalized prevention.

    PubMed

    Orho-Melander, M

    2015-11-01

    Coronary heart disease (CHD) is an archetypical multifactorial disorder that is influenced by genetic susceptibility as well as both modifiable and nonmodifiable risk factors, and their interactions. Advances during recent years in the field of multifactorial genetics, in particular genomewide association studies (GWASs) and their meta-analyses, have provided the statistical power to identify and replicate genetic variants in more than 50 risk loci for CHD and in several hundreds of loci for cardiometabolic risk factors for CHD such as blood lipids and lipoproteins. Although for a great majority of these loci both the causal variants and mechanisms remain unknown, progress in identifying the causal variants and underlying mechanisms has already been made for several genetic loci. Furthermore, identification of rare loss-of-function variants in genes such as PCSK9, NPC1L1, APOC3 and APOA5, which cause a markedly decreased risk of CHD and no adverse side effects, illustrates the power of translating genetic findings into novel mechanistic information and provides some optimism for the future of developing novel drugs, given the many genes associated with CHD in GWASs. Finally, Mendelian randomization can be used to reveal or exclude causal relationships between heritable biomarkers and CHD, and such approaches have already provided evidence of causal relationships between CHD and LDL cholesterol, triglycerides/remnant particles and lipoprotein(a), and indicated a lack of causality for HDL cholesterol, C-reactive protein and lipoprotein-associated phospholipase A2. Together, these genetic findings are beginning to lead to promising new drug targets and novel interventional strategies and thus have great potential to improve prevention, prediction and therapy of CHD. PMID:26477595

  15. Commercial Opportunities and Ethical Pitfalls in Personalized Medicine: A Myriad of Reasons to Revisit the Myriad Genetics Saga.

    PubMed

    So, Derek; Joly, Yann

    2013-06-01

    In 1996, the US-based biotechnology company Myriad Genetics began offering genetic diagnostic tests for mutations in the genes BRCA1 and BRCA2, which are linked to hereditary breast and ovarian cancer. Since that time, Myriad has been a forerunner in the field of personalized medicine through the use of effective commercialization strategies which have been emulated by other commercial biotechnology companies. Myriad's strategies include patent acquisition and active enforcement, direct-to-consumer advertising, diversification, and trade secrets. These business models have raised substantial ethical controversy and criticism, often related to the company's focus on market dominance and the potential conflict between private sector profitability and the promotion of public health. However, these strategies have enabled Myriad to survive the economic challenges that have affected the biotechnology sector and to become financially successful in the field of personalized medicine. Our critical assessment of the legal, economic and ethical aspects of Myriad's practices over this period allows the identification of the company's more effective business models. It also discusses of the consequences of implementing economically viable models without first carrying out broader reflection on the socio-cultural, ethical and political contexts in which they would apply. PMID:23885284

  16. Commercial Opportunities and Ethical Pitfalls in Personalized Medicine: A Myriad of Reasons to Revisit the Myriad Genetics Saga

    PubMed Central

    So, Derek; Joly, Yann

    2013-01-01

    In 1996, the US-based biotechnology company Myriad Genetics began offering genetic diagnostic tests for mutations in the genes BRCA1 and BRCA2, which are linked to hereditary breast and ovarian cancer. Since that time, Myriad has been a forerunner in the field of personalized medicine through the use of effective commercialization strategies which have been emulated by other commercial biotechnology companies. Myriad’s strategies include patent acquisition and active enforcement, direct-to-consumer advertising, diversification, and trade secrets. These business models have raised substantial ethical controversy and criticism, often related to the company’s focus on market dominance and the potential conflict between private sector profitability and the promotion of public health. However, these strategies have enabled Myriad to survive the economic challenges that have affected the biotechnology sector and to become financially successful in the field of personalized medicine. Our critical assessment of the legal, economic and ethical aspects of Myriad’s practices over this period allows the identification of the company’s more effective business models. It also discusses of the consequences of implementing economically viable models without first carrying out broader reflection on the socio-cultural, ethical and political contexts in which they would apply. PMID:23885284

  17. Commercial Opportunities and Ethical Pitfalls in Personalized Medicine: A Myriad of Reasons to Revisit the Myriad Genetics Saga.

    PubMed

    So, Derek; Joly, Yann

    2013-06-01

    In 1996, the US-based biotechnology company Myriad Genetics began offering genetic diagnostic tests for mutations in the genes BRCA1 and BRCA2, which are linked to hereditary breast and ovarian cancer. Since that time, Myriad has been a forerunner in the field of personalized medicine through the use of effective commercialization strategies which have been emulated by other commercial biotechnology companies. Myriad's strategies include patent acquisition and active enforcement, direct-to-consumer advertising, diversification, and trade secrets. These business models have raised substantial ethical controversy and criticism, often related to the company's focus on market dominance and the potential conflict between private sector profitability and the promotion of public health. However, these strategies have enabled Myriad to survive the economic challenges that have affected the biotechnology sector and to become financially successful in the field of personalized medicine. Our critical assessment of the legal, economic and ethical aspects of Myriad's practices over this period allows the identification of the company's more effective business models. It also discusses of the consequences of implementing economically viable models without first carrying out broader reflection on the socio-cultural, ethical and political contexts in which they would apply.

  18. Cognitive Ability, Self-Assessed Intelligence and Personality: Common Genetic but Independent Environmental Aetiologies

    ERIC Educational Resources Information Center

    Bratko, Denis; Butkovic, Ana; Vukasovic, Tena; Chamorro-Premuzic, Tomas; von Stumm, Sophie

    2012-01-01

    Self-perceived abilities (SPA), which play an important role in academic achievement, have been recently reported to be fully attributable to genetic and non-shared environmental influences. To replicate and extend this finding, 732 Croatian twins (15-22 years old) were assessed on cognitive ability, self-assessed intelligence (SAI), and Five…

  19. Risky business: risk perception and the use of medical services among customers of DTC personal genetic testing.

    PubMed

    Kaufman, David J; Bollinger, Juli M; Dvoskin, Rachel L; Scott, Joan A

    2012-06-01

    Direct-to-consumer genetic testing has generated speculation about how customers will interpret results and how these interpretations will influence healthcare use and behavior; however, few empirical data on these topics exist. We conducted an online survey of DTC customers of 23andMe, deCODEme, and Navigenics to begin to address these questions. Random samples of U.S. DTC customers were invited to participate. Survey topics included demographics, perceptions of two sample DTC results, and health behaviors following DTC testing. Of 3,167 DTC customers invited, 33% (n = 1,048) completed the survey. Forty-three percent of respondents had sought additional information about a health condition tested; 28% had discussed their results with a healthcare professional; and 9% had followed up with additional lab tests. Sixteen percent of respondents had changed a medication or supplement regimen, and one-third said they were being more careful about their diet. Many of these health-related behaviors were significantly associated with responses to a question that asked how participants would perceive their colon cancer risk (as low, moderate, or high) if they received a test result showing an 11% lifetime risk, as compared to 5% risk in the general population. Respondents who would consider themselves to be at high risk for colon cancer were significantly more likely to have sought information about a disease (p = 0.03), discussed results with a physician (p = 0.05), changed their diet (p = 0.02), and started exercising more (p = 0.01). Participants' personal health contexts--including personal and family history of disease and quality of self-perceived health--were also associated with health-related behaviors after testing. Subjective interpretations of genetic risk data and personal context appear to be related to health behaviors among DTC customers. Sharing DTC test results with healthcare professionals may add perceived utility to the tests.

  20. Genes and personality characteristics: Possible association of the genetic background with intelligence and decision making in 830 Caucasian Greek subjects.

    PubMed

    Marinos, Georgios; Naziris, Nikolaos; Limnaios, Stefanos A; Drakoulis, Nikolaos

    2014-12-01

    It is well known that intelligence consists of a variety of interactional and cognitive skills and abilities (e.g. tradecraft; critical and divergent thinking; perception of foreign information). Decision making is defined as the conscious choice between given options, relating to a problem. Both genetic background and environment comprise key elements for personality characteristics of the human being. The aim of this study is to determine the frequency distribution of rs324420, rs1800497, rs363050, rs6265, rs1328674 polymorphisms known to be involved in individual personality characteristics, in 830 Greek Subjects. The study is independent from direct clinical measurements (e.g. IQ measurements; physiological tests). The population of the volunteers is described, based on genotype, sex, with the respective gene frequencies, including the Minor Allele Frequency (MAF). A potential influence of the volunteer gender with the above characteristics (based on genotypes and alleles) is examined and finally, volunteers are classified as follows: A volunteer receives + 1, for each genotype/allele, which enhances his intelligence or his decision-making. In contrast, he receives - 1, for each genotype/allele, which relegates the individual characteristic. No statistically significant gender-characteristics correlation is observed. According to their genetic profile, a rate of 92.5%, of the volunteers may be characterized by prudence and temperance of thought, with only a small proportion of them (7.5%) may be classified as genetically spontaneous and adventurous. Regarding intelligence, the study population may lay around average and a little above it, at a rate of 96.3%, while the edges of the scale suggest only a 0.5% of the volunteers, who, although the "smartest", somehow seem to lack prudence. In conclusion, individuals with low cognitive ability may be more prudent than others and vice versa, while the "smartest" ones tend to be more risky, in decision

  1. Genetic and molecular alterations in pancreatic cancer: Implications for personalized medicine

    PubMed Central

    Fang, Yantian; Yao, Qizhi; Chen, Zongyou; Xiang, Jianbin; William, Fisher E.; Gibbs, Richard A.; Chen, Changyi

    2013-01-01

    Recent advances in human genomics and biotechnologies have profound impacts on medical research and clinical practice. Individual genomic information, including DNA sequences and gene expression profiles, can be used for prediction, prevention, diagnosis, and treatment for many complex diseases. Personalized medicine attempts to tailor medical care to individual patients by incorporating their genomic information. In a case of pancreatic cancer, the fourth leading cause of cancer death in the United States, alteration in many genes as well as molecular profiles in blood, pancreas tissue, and pancreas juice has recently been discovered to be closely associated with tumorigenesis or prognosis of the cancer. This review aims to summarize recent advances of important genes, proteins, and microRNAs that play a critical role in the pathogenesis of pancreatic cancer, and to provide implications for personalized medicine in pancreatic cancer. PMID:24172537

  2. Epidemiology, Comorbidity, and Behavioral Genetics of Antisocial Personality Disorder and Psychopathy

    PubMed Central

    Werner, Kimberly B.; Few, Lauren R.; Bucholz, Kathleen K.

    2015-01-01

    Psychopathy is theorized as a disorder of personality and affective deficits while antisocial personality disorder (ASPD) diagnosis is primarily behaviorally based. While ASPD and psychopathy are similar and are highly comorbid with each other, they are not synonymous. ASPD has been well studied in community samples with estimates of its lifetime prevalence ranging from 1-4% of the general population.4,5 In contrast, psychopathy is almost exclusively investigated within criminal populations so that its prevalence in the general population has been inferred by psychopathic traits rather than disorder (1%). Differences in etiology and comorbidity with each other and other psychiatric disorders of these two disorders are also evident. The current article will briefly review the epidemiology, etiology, and comorbidity of ASPD and psychopathy, focusing predominately on research completed in community and clinical populations. This paper aims to highlight ASPD and psychopathy as related, but distinct disorders. PMID:26594067

  3. Synthetic biology with artificially expanded genetic information systems. From personalized medicine to extraterrestrial life.

    PubMed

    Benner, Steven A; Hutter, Daniel; Sismour, A Michael

    2003-01-01

    Over 15 years ago, the Benner group noticed that the DNA alphabet need not be limited to the four standard nucleotides known in natural DNA. Rather, twelve nucleobases forming six base pairs joined by mutually exclusive hydrogen bonding patterns are possible within the geometry of the Watson-Crick pair (Fig. 1). Synthesis and studies on these compounds have brought us to the threshold of a synthetic biology, an artificial chemical system that does basic processes needed for life (in particular, Darwinian evolution), but with unnatural chemical structures. At the same time, the artificial genetic information systems (AEGIS) that we have developed have been used in FDA-approved commercial tests for managing HIV and hepatitis C infections in individual patients, and in a tool that seeks the virus for severe acute respiratory syndrome (SARS). AEGIS also supports the next generation of robotic probes to search for genetic molecules on Mars, Europa, and elsewhere where NASA probes will travel.

  4. Personality, Behavior and Environmental Features Associated with OXTR Genetic Variants in British Mothers

    PubMed Central

    Connelly, Jessica J.; Golding, Jean; Gregory, Steven P.; Ring, Susan M.; Davis, John M.; Davey Smith, George; Harris, James C.; Carter, C. Sue; Pembrey, Marcus

    2014-01-01

    Background It is assumed that the oxytocin receptor gene (OXTR) is associated with factors that are related to features of reproduction as well as the currently emerging fields of mood and emotional response. Methods We analysed data from over 8000 mothers who participated in the Avon Longitudinal Study of Parents and Children (ALSPAC). We determined reproductive, emotional and personality differences related to the two SNPs rs53576 and rs2254298 of the oxytocin receptor gene to determine whether there was evidence in this population for: (i) associations with emotional and personality differences, and (ii) behavioural or environmental links with these SNPs using a hypothesis free approach with over 1000 types of exposure. Results Our analyses of 7723 women showed that there were no differences in 11 mood, social or relationship characteristics associated with the rs2254298, and just one with rs53576 (with emotional loneliness) – one statistically significant out of 22 tests is no more than would be expected by chance. There were no interactions with childhood abuse. Using a hypothesis-free approach we found few indicators of environmental or behavioural differences associated with rs2254298, but there was an excess of associations with eating habits with rs53576. The findings included an association with dieting to lose weight, and habits typical of bulimia for the women with GG. The nutrition of the women also showed negative associations of the GG genotype with 13 nutrients, including vitamins D, B12 and retinol, and intake of calcium, potassium and iodine. Conclusions We conclude that this large database of pregnant women was unable to provide confirmation of the types of personality associated with these two OXTR SNPs, but we have shown some evidence of eating differences in those with GG on rs53576. Confirmation of our hypothesis free associations using other data sets is important. PMID:24621820

  5. Preimplantation genetic screening for all 24 chromosomes by microarray comparative genomic hybridization significantly increases implantation rates and clinical pregnancy rates in patients undergoing in vitro fertilization with poor prognosis

    PubMed Central

    Majumdar, Gaurav; Majumdar, Abha; Lall, Meena; Verma, Ishwar C.; Upadhyaya, Kailash C.

    2016-01-01

    CONTEXT: A majority of human embryos produced in vitro are aneuploid, especially in couples undergoing in vitro fertilization (IVF) with poor prognosis. Preimplantation genetic screening (PGS) for all 24 chromosomes has the potential to select the most euploid embryos for transfer in such cases. AIM: To study the efficacy of PGS for all 24 chromosomes by microarray comparative genomic hybridization (array CGH) in Indian couples undergoing IVF cycles with poor prognosis. SETTINGS AND DESIGN: A retrospective, case–control study was undertaken in an institution-based tertiary care IVF center to compare the clinical outcomes of twenty patients, who underwent 21 PGS cycles with poor prognosis, with 128 non-PGS patients in the control group, with the same inclusion criterion as for the PGS group. MATERIALS AND METHODS: Single cells were obtained by laser-assisted embryo biopsy from day 3 embryos and subsequently analyzed by array CGH for all 24 chromosomes. Once the array CGH results were available on the morning of day 5, only chromosomally normal embryos that had progressed to blastocyst stage were transferred. RESULTS: The implantation rate and clinical pregnancy rate (PR) per transfer were found to be significantly higher in the PGS group than in the control group (63.2% vs. 26.2%, P = 0.001 and 73.3% vs. 36.7%, P = 0.006, respectively), while the multiple PRs sharply declined from 31.9% to 9.1% in the PGS group. CONCLUSIONS: In this pilot study, we have shown that PGS by array CGH can improve the clinical outcome in patients undergoing IVF with poor prognosis. PMID:27382234

  6. Personalized prostate cancer screening among men with high risk genetic predisposition- study protocol for a prospective cohort study

    PubMed Central

    2014-01-01

    Background Prostate cancer screening among the general population is highly debatable. Nevertheless, screening among high-risk groups is appealing. Prior data suggests that men carrying mutations in the BRCA1& 2 genes may be at increased risk of developing prostate cancer. Additionally, they appear to develop prostate cancer at a younger age and with a more aggressive course. However, prior studies did not systematically perform prostate biopsies and thus cannot determine the true prevalence of prostate cancer in this population. Methods This will be a prospective diagnostic trial of screening for prostate cancer among men with genetic predisposition. The target population is males (40–70 year old) carrying a BRCA1 and/or BRCA2 germ line mutation. They will be identified via our Genetic counseling unit. All men after signing an informed consent will undergo the following tests: PSA, free to total PSA, MRI of prostate and prostate biopsy. The primary endpoint will be to estimate the prevalence, stage and grade of prostate cancer in this population. Additionally, the study aims to estimate the impact of these germ line mutations on benign prostatic hyperplasia. Furthermore, this study aims to create a bio-bank of tissue, urine and serum of this unique cohort for future investigations. Finally, this study will identify an inception cohort for future interventional studies of primary and secondary prevention. Discussion The proposed research is highly translational and focuses not only on the clinical results, but on the future specimens that will be used to advance our understanding of prostate cancer patho-physiology. Most importantly, these high-risk germ-line mutation carriers are ideal candidates for primary and secondary prevention initiatives. Trial registration ClinicalTrials.gov: NCT02053805. PMID:25047061

  7. Plasma BDNF Concentration, Val66Met Genetic Variant, and Depression-Related Personality Traits

    PubMed Central

    Terracciano, Antonio; Martin, Bronwen; Ansari, David; Tanaka, Toshiko; Ferrucci, Luigi; Maudsley, Stuart; Mattson, Mark P.; Costa, Paul T.

    2010-01-01

    Brain derived neurotrophic factor (BDNF) regulates synaptic plasticity and neurogenesis, and BDNF plasma and serum levels have been associated with depression, Alzheimer's disease, and other psychiatric and neurodegenerative disorders. In a relatively large community sample, drawn from the Baltimore Longitudinal Study of Aging (BLSA), we examine whether BDNF plasma concentration is associated with the Val66Met functional polymorphism of the BDNF gene (n = 335) and with depression-related personality traits assessed with the NEO-PI-R (n = 391). Plasma concentration of BDNF was not associated with the Val66Met variant in either men or women. However, in men, but not in women, BDNF plasma level was associated with personality traits linked to depression. Contrary to the notion that low BDNF is associated with negative outcomes, we found lower plasma levels in men who score lower on depression and vulnerability to stress (two facets of Neuroticism) and higher on Conscientiousness and Extraversion. These findings challenge the prevailing hypothesis that lower peripheral levels of BDNF are a marker of depression. PMID:20345896

  8. The lost study: a 1998 adoption study of personality that found no genetic relationship between birthparents and their 240 adopted-away biological offspring.

    PubMed

    Joseph, Jay

    2013-01-01

    In 1998, Robert Plomin and his Colorado Adoption Project (CAP) colleagues published the results of a longitudinal adoption study of personality. They found an average personality test score correlation of only 0.01 between birthparents and their 240 adopted-away 16-year-old biological offspring, suggesting no genetic influences on personality. However, the researchers interpreted their results in the context of previous twin studies, produced an average 14% heritability estimate, and concluded that nonadditive genetic factors underlie personality traits. The author challenges these conclusions and notes that the near-zero correlation stands in contrast to other types of behavioral genetic methods, such as twin studies, that are more vulnerable to environmental confounds and other biases. The author shows that authoritative psychology texts frequently fail to mention this 1998 CAP study. When it is mentioned, the original researchers' conclusions are usually accepted without critical analysis. The author also assesses the results in the context of the 20-year failure to discover the genes that behavioral geneticists believe underlie personality traits. He concludes that this 1998 investigation is a "lost study" in the sense that, although it is one of the most methodologically sound behavioral genetic studies ever performed, its results are largely unknown.

  9. Borderline personality disorder

    MedlinePlus

    Personality disorder - borderline ... Cause of borderline personality disorder (BPD) is unknown. Genetic, family, and social factors are thought to play roles. Risk factors for BPD include: Abandonment ...

  10. Molecular genetics support Gray's personality theory: the interaction of COMT and DRD2 polymorphisms predicts the behavioural approach system.

    PubMed

    Reuter, Martin; Schmitz, Anja; Corr, Philip; Hennig, Juergen

    2006-04-01

    The present study provides the first direct molecular genetics support for Gray's Reinforcement Sensitivity Theory (RST), which is one of the most influential biologically oriented personality theories. It was investigated whether the DRD2 TaqIA and the COMT polymorphisms were related to the dimensions of Gray's personality theory, as measured by the Carver and White BIS/BAS scales. In a sample of 295 healthy subjects results revealed significant DRD2xCOMT interactions (i.e. epistasis) for the total BAS scale (related to positive emotionality) and for the subscales Drive (D) and Fun Seeking (FS). High BAS scores were observed if the catabolic enzyme activity and the D2 receptor density as indicated by the two polymorphisms were in disequilibrium, i.e. in the presence of the Val-/A1- (low enzyme activity/high receptor density) or the Val+/A1+ (high enzyme activity/low receptor density) alleles. In a random subsample (n=48), it could be demonstrated that those allele combinations of COMT and DRD2 associated with high BAS scores also had significantly lower prolactin levels under resting conditions, indicating high dopamine activity, compared to those allele combinations with low BAS scores. Furthermore, two-way interactions of DRD2 TaqIAxsmoking status and of the Met allele of COMTxsmoking status on FS and Metxgender on BIS could be shown.

  11. Genetic Testing and Tissue Banking for Personalized Oncology: Analytical and Institutional Factors

    PubMed Central

    Miles, George; Rae, James; Ramalingam, Suresh S.; Pfeifer, John

    2016-01-01

    Personalized oncology, or more aptly precision oncogenomics, refers to the identification and implementation of clinically actionable targets tailored to an individual patient’s cancer genomic information. Banking of human tissue and other biospecimens establishes a framework to extract and collect the data essential to our understanding of disease pathogenesis and treatment. Cancer cooperative groups in the United States have led the way in establishing robust biospecimen collection mechanisms to facilitate translational research, and combined with technological advances in molecular testing, tissue banking has expanded from its traditional base in academic research and is assuming an increasingly pivotal role in directing the clinical care of cancer patients. Comprehensive screening of tumors by DNA sequencing and the ability to mine and interpret these large data sets from well-organized tissue banks have defined molecular subtypes of cancer. Such stratification by genomic criteria has revolutionized our perspectives on cancer diagnosis and treatment, offering insight into prognosis, progression, and susceptibility or resistance to known therapeutic agents. In turn, this has enabled clinicians to offer treatments tailored to patients that can greatly improve their chances of survival. Unique challenges and opportunities accompany the rapidly evolving interplay between tissue banking and genomic sequencing, and are the driving forces underlying the revolution in precision medicine. Molecular testing and precision medicine clinical trials are now becoming the major thrust behind the cooperative groups’ clinical research efforts. PMID:26433552

  12. Genetic Testing and Tissue Banking for Personalized Oncology: Analytical and Institutional Factors.

    PubMed

    Miles, George; Rae, James; Ramalingam, Suresh S; Pfeifer, John

    2015-10-01

    Personalized oncology, or more aptly precision oncogenomics, refers to the identification and implementation of clinically actionable targets tailored to an individual patient's cancer genomic information. Banking of human tissue and other biospecimens establishes a framework to extract and collect the data essential to our understanding of disease pathogenesis and treatment. Cancer cooperative groups in the United States have led the way in establishing robust biospecimen collection mechanisms to facilitate translational research, and combined with technological advances in molecular testing, tissue banking has expanded from its traditional base in academic research and is assuming an increasingly pivotal role in directing the clinical care of cancer patients. Comprehensive screening of tumors by DNA sequencing and the ability to mine and interpret these large data sets from well-organized tissue banks have defined molecular subtypes of cancer. Such stratification by genomic criteria has revolutionized our perspectives on cancer diagnosis and treatment, offering insight into prognosis, progression, and susceptibility or resistance to known therapeutic agents. In turn, this has enabled clinicians to offer treatments tailored to patients that can greatly improve their chances of survival. Unique challenges and opportunities accompany the rapidly evolving interplay between tissue banking and genomic sequencing, and are the driving forces underlying the revolution in precision medicine. Molecular testing and precision medicine clinical trials are now becoming the major thrust behind the cooperative groups' clinical research efforts.

  13. Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation.

    PubMed

    Kidd, Jeffrey M; Gravel, Simon; Byrnes, Jake; Moreno-Estrada, Andres; Musharoff, Shaila; Bryc, Katarzyna; Degenhardt, Jeremiah D; Brisbin, Abra; Sheth, Vrunda; Chen, Rong; McLaughlin, Stephen F; Peckham, Heather E; Omberg, Larsson; Bormann Chung, Christina A; Stanley, Sarah; Pearlstein, Kevin; Levandowsky, Elizabeth; Acevedo-Acevedo, Suehelay; Auton, Adam; Keinan, Alon; Acuña-Alonzo, Victor; Barquera-Lozano, Rodrigo; Canizales-Quinteros, Samuel; Eng, Celeste; Burchard, Esteban G; Russell, Archie; Reynolds, Andy; Clark, Andrew G; Reese, Martin G; Lincoln, Stephen E; Butte, Atul J; De La Vega, Francisco M; Bustamante, Carlos D

    2012-10-01

    Full sequencing of individual human genomes has greatly expanded our understanding of human genetic variation and population history. Here, we present a systematic analysis of 50 human genomes from 11 diverse global populations sequenced at high coverage. Our sample includes 12 individuals who have admixed ancestry and who have varying degrees of recent (within the last 500 years) African, Native American, and European ancestry. We found over 21 million single-nucleotide variants that contribute to a 1.75-fold range in nucleotide heterozygosity across diverse human genomes. This heterozygosity ranged from a high of one heterozygous site per kilobase in west African genomes to a low of 0.57 heterozygous sites per kilobase in segments inferred to have diploid Native American ancestry from the genomes of Mexican and Puerto Rican individuals. We show evidence of all three continental ancestries in the genomes of Mexican, Puerto Rican, and African American populations, and the genome-wide statistics are highly consistent across individuals from a population once ancestry proportions have been accounted for. Using a generalized linear model, we identified subtle variations across populations in the proportion of neutral versus deleterious variation and found that genome-wide statistics vary in admixed populations even once ancestry proportions have been factored in. We further infer that multiple periods of gene flow shaped the diversity of admixed populations in the Americas-70% of the European ancestry in today's African Americans dates back to European gene flow happening only 7-8 generations ago.

  14. Use of genetics for personalized management of heritable thoracic aortic disease: how do we get there?

    PubMed

    Milewicz, Dianna M; Regalado, Ellen S

    2015-02-01

    The major diseases affecting the thoracic aorta are aortic aneurysms and acute aortic dissections. Medical treatments can slow the enlargement of aneurysms, but the mainstay of treatment to prevent premature death resulting from dissection is surgical repair of the thoracic aortic aneurysm, which is typically recommended when the aortic diameter reaches 5.0 to 5.5 cm. Studies of patients with acute aortic dissections, however, indicate that as many as 60% of dissections occur at aortic diameters smaller than 5.5 cm. Clinical predictors are therefore needed to distinguish those at risk for dissection at an aortic diameter smaller than 5.0 cm and to determine the aortic diameter that justifies the risk of surgical repair to prevent an acute aortic dissection. Data from genetic studies during the past decade have established that mutations in specific genes can distinguish patients at risk for the disease and predict the risk of early dissection at diameters smaller than 5.0 cm. This information has the potential to optimize the timing of aortic surgery to prevent acute dissections.

  15. Population Genetic Inference from Personal Genome Data: Impact of Ancestry and Admixture on Human Genomic Variation

    PubMed Central

    Kidd, Jeffrey M.; Gravel, Simon; Byrnes, Jake; Moreno-Estrada, Andres; Musharoff, Shaila; Bryc, Katarzyna; Degenhardt, Jeremiah D.; Brisbin, Abra; Sheth, Vrunda; Chen, Rong; McLaughlin, Stephen F.; Peckham, Heather E.; Omberg, Larsson; Bormann Chung, Christina A.; Stanley, Sarah; Pearlstein, Kevin; Levandowsky, Elizabeth; Acevedo-Acevedo, Suehelay; Auton, Adam; Keinan, Alon; Acuña-Alonzo, Victor; Barquera-Lozano, Rodrigo; Canizales-Quinteros, Samuel; Eng, Celeste; Burchard, Esteban G.; Russell, Archie; Reynolds, Andy; Clark, Andrew G.; Reese, Martin G.; Lincoln, Stephen E.; Butte, Atul J.; De La Vega, Francisco M.; Bustamante, Carlos D.

    2012-01-01

    Full sequencing of individual human genomes has greatly expanded our understanding of human genetic variation and population history. Here, we present a systematic analysis of 50 human genomes from 11 diverse global populations sequenced at high coverage. Our sample includes 12 individuals who have admixed ancestry and who have varying degrees of recent (within the last 500 years) African, Native American, and European ancestry. We found over 21 million single-nucleotide variants that contribute to a 1.75-fold range in nucleotide heterozygosity across diverse human genomes. This heterozygosity ranged from a high of one heterozygous site per kilobase in west African genomes to a low of 0.57 heterozygous sites per kilobase in segments inferred to have diploid Native American ancestry from the genomes of Mexican and Puerto Rican individuals. We show evidence of all three continental ancestries in the genomes of Mexican, Puerto Rican, and African American populations, and the genome-wide statistics are highly consistent across individuals from a population once ancestry proportions have been accounted for. Using a generalized linear model, we identified subtle variations across populations in the proportion of neutral versus deleterious variation and found that genome-wide statistics vary in admixed populations even once ancestry proportions have been factored in. We further infer that multiple periods of gene flow shaped the diversity of admixed populations in the Americas—70% of the European ancestry in today’s African Americans dates back to European gene flow happening only 7–8 generations ago. PMID:23040495

  16. Changes in Physical Activity Following a Genetic-Based Internet-Delivered Personalized Intervention: Randomized Controlled Trial (Food4Me)

    PubMed Central

    Livingstone, Katherine M; Fallaize, Rosalind; Kolossa, Silvia; Hallmann, Jacqueline; San-Cristobal, Rodrigo; Navas-Carretero, Santiago; O'Donovan, Clare B; Woolhead, Clara; Forster, Hannah; Moschonis, George; Lambrinou, Christina-Paulina; Surwillo, Agnieszka; Godlewska, Magdalena; Hoonhout, Jettie; Goris, Annelies; Macready, Anna L; Walsh, Marianne C; Gibney, Eileen R; Brennan, Lorraine; Manios, Yannis; Traczyk, Iwona; Drevon, Christian A; Lovegrove, Julie A; Martinez, J Alfredo; Daniel, Hannelore; Gibney, Michael J; Mathers, John C; Saris, Wim HM

    2016-01-01

    Background There is evidence that physical activity (PA) can attenuate the influence of the fat mass- and obesity-associated (FTO) genotype on the risk to develop obesity. However, whether providing personalized information on FTO genotype leads to changes in PA is unknown. Objective The purpose of this study was to determine if disclosing FTO risk had an impact on change in PA following a 6-month intervention. Methods The single nucleotide polymorphism (SNP) rs9939609 in the FTO gene was genotyped in 1279 participants of the Food4Me study, a four-arm, Web-based randomized controlled trial (RCT) in 7 European countries on the effects of personalized advice on nutrition and PA. PA was measured objectively using a TracmorD accelerometer and was self-reported using the Baecke questionnaire at baseline and 6 months. Differences in baseline PA variables between risk (AA and AT genotypes) and nonrisk (TT genotype) carriers were tested using multiple linear regression. Impact of FTO risk disclosure on PA change at 6 months was assessed among participants with inadequate PA, by including an interaction term in the model: disclosure (yes/no) × FTO risk (yes/no). Results At baseline, data on PA were available for 874 and 405 participants with the risk and nonrisk FTO genotypes, respectively. There were no significant differences in objectively measured or self-reported baseline PA between risk and nonrisk carriers. A total of 807 (72.05%) of the participants out of 1120 in the personalized groups were encouraged to increase PA at baseline. Knowledge of FTO risk had no impact on PA in either risk or nonrisk carriers after the 6-month intervention. Attrition was higher in nonrisk participants for whom genotype was disclosed (P=.01) compared with their at-risk counterparts. Conclusions No association between baseline PA and FTO risk genotype was observed. There was no added benefit of disclosing FTO risk on changes in PA in this personalized intervention. Further RCT studies

  17. Immunohistochemical, genetic and epigenetic profiles of hereditary and triple negative breast cancers. Relevance in personalized medicine

    PubMed Central

    Murria, Rosa; Palanca, Sarai; de Juan, Inmaculada; Alenda, Cristina; Egoavil, Cecilia; Seguí, Francisco J; García-Casado, Zaida; Juan, María J; Sánchez, Ana B; Segura, Ángel; Santaballa, Ana; Chirivella, Isabel; Llop, Marta; Pérez, Gema; Barragán, Eva; Salas, Dolores; Bolufer, Pascual

    2015-01-01

    This study aims to identify the profile of immunohistochemical (IHC) parameters, copy number aberrations (CNAs) and epigenetic alterations [promoter methylation (PM) and miR expression] related to hereditary (H) and triple negative (TN) breast cancer (BC). This profile could be of relevance for guiding tumor response to treatment with targeting therapy. The study comprises 278 formalin fixed paraffin-embedded BCs divided into two groups: H group, including 88 hereditary BC (HBC) and 190 non hereditary (NHBC), and TN group, containing 79 TNBC and 187 non TNBC (NTNBC). We assessed IHC parameters (Ki67, ER, PR, HER2, CK5/6, CK18 and Cadherin-E), CNA of 20 BC related genes, and PM of 24 tumor suppressor genes employing MLPA/MS-MLPA (MRC Holland, Amsterdam). MiR-4417, miR-423-3p, miR-590-5p and miR-187-3p expression was assessed by quantitative RT-PCR (Applied Biosystems). Binary logistic regression was applied to select the parameters that better differentiate the HBC or TN groups. For HBC we found that, ER expression, ERBB2 CNA and PM in RASSF1 and TIMP3 were associated with NHBC whereas; MYC and AURKA CNA were linked to HBC. For TNBC, we found that CDC6 CNA, GSTP1 and RASSF1 PM and miR-423-3p hyperexpression were characteristic of NTNBC, while MYC aberrations, BRCA1 hypermethylation and miR-590-5p and miR-4417 hyperexpression were more indicative of TNBC. The selected markers allow establishing BC subtypes, which are characterized by showing similar etiopathogenetic mechanisms, some of them being molecular targets for known drugs or possible molecular targets. These results could be the basis to implement a personalized therapy. PMID:26328265

  18. Prediction of alcohol drinking in adolescents: Personality-traits, behavior, brain responses, and genetic variations in the context of reward sensitivity.

    PubMed

    Heinrich, Angela; Müller, Kathrin U; Banaschewski, Tobias; Barker, Gareth J; Bokde, Arun L W; Bromberg, Uli; Büchel, Christian; Conrod, Patricia; Fauth-Bühler, Mira; Papadopoulos, Dimitri; Gallinat, Jürgen; Garavan, Hugh; Gowland, Penny; Heinz, Andreas; Ittermann, Bernd; Mann, Karl; Martinot, Jean-Luc; Paus, Tomáš; Pausova, Zdenka; Smolka, Michael; Ströhle, Andreas; Rietschel, Marcella; Flor, Herta; Schumann, Gunter; Nees, Frauke

    2016-07-01

    Adolescence is a time that can set the course of alcohol abuse later in life. Sensitivity to reward on multiple levels is a major factor in this development. We examined 736 adolescents from the IMAGEN longitudinal study for alcohol drinking during early (mean age=14.37) and again later (mean age=16.45) adolescence. Conducting structural equation modeling we evaluated the contribution of reward-related personality traits, behavior, brain responses and candidate genes. Personality seems to be most important in explaining alcohol drinking in early adolescence. However, genetic variations in ANKK1 (rs1800497) and HOMER1 (rs7713917) play an equal role in predicting alcohol drinking two years later and are most important in predicting the increase in alcohol consumption. We hypothesize that the initiation of alcohol use may be driven more strongly by personality while the transition to increased alcohol use is more genetically influenced. PMID:27180911

  19. Prediction of alcohol drinking in adolescents: Personality-traits, behavior, brain responses, and genetic variations in the context of reward sensitivity.

    PubMed

    Heinrich, Angela; Müller, Kathrin U; Banaschewski, Tobias; Barker, Gareth J; Bokde, Arun L W; Bromberg, Uli; Büchel, Christian; Conrod, Patricia; Fauth-Bühler, Mira; Papadopoulos, Dimitri; Gallinat, Jürgen; Garavan, Hugh; Gowland, Penny; Heinz, Andreas; Ittermann, Bernd; Mann, Karl; Martinot, Jean-Luc; Paus, Tomáš; Pausova, Zdenka; Smolka, Michael; Ströhle, Andreas; Rietschel, Marcella; Flor, Herta; Schumann, Gunter; Nees, Frauke

    2016-07-01

    Adolescence is a time that can set the course of alcohol abuse later in life. Sensitivity to reward on multiple levels is a major factor in this development. We examined 736 adolescents from the IMAGEN longitudinal study for alcohol drinking during early (mean age=14.37) and again later (mean age=16.45) adolescence. Conducting structural equation modeling we evaluated the contribution of reward-related personality traits, behavior, brain responses and candidate genes. Personality seems to be most important in explaining alcohol drinking in early adolescence. However, genetic variations in ANKK1 (rs1800497) and HOMER1 (rs7713917) play an equal role in predicting alcohol drinking two years later and are most important in predicting the increase in alcohol consumption. We hypothesize that the initiation of alcohol use may be driven more strongly by personality while the transition to increased alcohol use is more genetically influenced.

  20. 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

  1. Some personality traits converge gradually by long-term partnership through the lifecourse--genetic and environmental structure of Cloninger's temperament and character dimensions.

    PubMed

    Yang, Sarah; Sung, Joohon; Kim, Ji-Hae; Song, Yun-Mi; Lee, Kayoung; Kim, Han-Na; Kim, Hyung-Lae; Cloninger, C Robert

    2015-04-01

    Temperament and Character Inventory (TCI) is a comprehensive personality inventory that is widely used in behavioral genetics. The original theory suggested that temperament traits were under genetic influences, whereas character traits were gradually built by an interaction between temperaments and environment until early adulthood. This study attempted to evaluate TCI by examining the genetic and environmental contributions to personality with particular attention to spousal effects. From 687 families, a total of 3459 Korean adult individuals completed the survey. Among them, there were 542 Monozygotic (MZ) twin pairs and 122 Dizygotic twin pairs. Intraclass correlation coefficients (ICCs) and heritability were calculated to examine the genetic and shared environmental contributions to personality. Moderate genetic contributions (0.17-0.43) were found for all TCI traits along with the evidence of shared environment (0.11-0.31) for harm avoidance (HA) and all characters. The ICCs of TCI in MZ pairs ranged 0.36-0.46. Spouses' had little resemblance for temperament, whereas for character dimensions, spouses (0.27-0.38) were more similar than first degree relatives (0.10-0.29). Resemblance between spouses increased with duration of marriage for most characters and HA. When the growing similarities between spouses were compared with their MZ cotwins' for subgroup of 81 trios, self-directedness (SD) of character showed even more similarities toward their spouses than cotwins as partnership duration increased (r = 0.32). Our findings with regard to change in SD into late adulthood support the psychobiological theory of temperament and character, which suggests that both personality domains have distinct developmental trajectories despite equally large genetic influences.

  2. Some personality traits converge gradually by long-term partnership through the lifecourse--genetic and environmental structure of Cloninger's temperament and character dimensions.

    PubMed

    Yang, Sarah; Sung, Joohon; Kim, Ji-Hae; Song, Yun-Mi; Lee, Kayoung; Kim, Han-Na; Kim, Hyung-Lae; Cloninger, C Robert

    2015-04-01

    Temperament and Character Inventory (TCI) is a comprehensive personality inventory that is widely used in behavioral genetics. The original theory suggested that temperament traits were under genetic influences, whereas character traits were gradually built by an interaction between temperaments and environment until early adulthood. This study attempted to evaluate TCI by examining the genetic and environmental contributions to personality with particular attention to spousal effects. From 687 families, a total of 3459 Korean adult individuals completed the survey. Among them, there were 542 Monozygotic (MZ) twin pairs and 122 Dizygotic twin pairs. Intraclass correlation coefficients (ICCs) and heritability were calculated to examine the genetic and shared environmental contributions to personality. Moderate genetic contributions (0.17-0.43) were found for all TCI traits along with the evidence of shared environment (0.11-0.31) for harm avoidance (HA) and all characters. The ICCs of TCI in MZ pairs ranged 0.36-0.46. Spouses' had little resemblance for temperament, whereas for character dimensions, spouses (0.27-0.38) were more similar than first degree relatives (0.10-0.29). Resemblance between spouses increased with duration of marriage for most characters and HA. When the growing similarities between spouses were compared with their MZ cotwins' for subgroup of 81 trios, self-directedness (SD) of character showed even more similarities toward their spouses than cotwins as partnership duration increased (r = 0.32). Our findings with regard to change in SD into late adulthood support the psychobiological theory of temperament and character, which suggests that both personality domains have distinct developmental trajectories despite equally large genetic influences. PMID:25748752

  3. Genetic and environmental influences on personality trait stability and growth during the transition to adulthood: a three-wave longitudinal study.

    PubMed

    Hopwood, Christopher J; Donnellan, M Brent; Blonigen, Daniel M; Krueger, Robert F; McGue, Matt; Iacono, William G; Burt, S Alexandra

    2011-03-01

    During the transition to adulthood individuals typically settle into adult roles in love and work. This transition also involves significant changes in personality traits that are generally in the direction of greater maturity and increased stability. Competing hypotheses have been offered to account for these personality changes: The intrinsic maturation hypothesis suggests that change trajectories are endogenous, whereas the life-course hypothesis suggests that these changes occur because of transactions with the social environment. This study investigated the patterns and origins of personality trait changes from ages 17 to 29 using 3 waves of Multidimensional Personality Questionnaire data provided by twins. Results suggest that (a) trait changes were more profound in the first relative to the second half of the transition to adulthood; (b) traits tend to become more stable during the second half of this transition, with all the traits yielding retest correlations between .74 and .78; (c) Negative Affectivity declined over time, and Constraint increased over time; minimal change was observed on agentic or communal aspects of Positive Emotionality; and (d) both genetic and nonshared environmental factors accounted for personality changes. Overall, these genetically informed results support a life-course perspective on personality development during the transition to adulthood.

  4. 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 ...

  5. Global connectivity of hub residues in Oncoprotein structures encodes genetic factors dictating personalized drug response to targeted Cancer therapy

    NASA Astrophysics Data System (ADS)

    Soundararajan, Venky; Aravamudan, Murali

    2014-12-01

    The efficacy and mechanisms of therapeutic action are largely described by atomic bonds and interactions local to drug binding sites. Here we introduce global connectivity analysis as a high-throughput computational assay of therapeutic action - inspired by the Google page rank algorithm that unearths most ``globally connected'' websites from the information-dense world wide web (WWW). We execute short timescale (30 ps) molecular dynamics simulations with high sampling frequency (0.01 ps), to identify amino acid residue hubs whose global connectivity dynamics are characteristic of the ligand or mutation associated with the target protein. We find that unexpected allosteric hubs - up to 20Å from the ATP binding site, but within 5Å of the phosphorylation site - encode the Gibbs free energy of inhibition (ΔGinhibition) for select protein kinase-targeted cancer therapeutics. We further find that clinically relevant somatic cancer mutations implicated in both drug resistance and personalized drug sensitivity can be predicted in a high-throughput fashion. Our results establish global connectivity analysis as a potent assay of protein functional modulation. This sets the stage for unearthing disease-causal exome mutations and motivates forecast of clinical drug response on a patient-by-patient basis. We suggest incorporation of structure-guided genetic inference assays into pharmaceutical and healthcare Oncology workflows.

  6. Global connectivity of hub residues in Oncoprotein structures encodes genetic factors dictating personalized drug response to targeted Cancer therapy

    PubMed Central

    Soundararajan, Venky; Aravamudan, Murali

    2014-01-01

    The efficacy and mechanisms of therapeutic action are largely described by atomic bonds and interactions local to drug binding sites. Here we introduce global connectivity analysis as a high-throughput computational assay of therapeutic action – inspired by the Google page rank algorithm that unearths most “globally connected” websites from the information-dense world wide web (WWW). We execute short timescale (30 ps) molecular dynamics simulations with high sampling frequency (0.01 ps), to identify amino acid residue hubs whose global connectivity dynamics are characteristic of the ligand or mutation associated with the target protein. We find that unexpected allosteric hubs – up to 20Å from the ATP binding site, but within 5Å of the phosphorylation site – encode the Gibbs free energy of inhibition (ΔGinhibition) for select protein kinase-targeted cancer therapeutics. We further find that clinically relevant somatic cancer mutations implicated in both drug resistance and personalized drug sensitivity can be predicted in a high-throughput fashion. Our results establish global connectivity analysis as a potent assay of protein functional modulation. This sets the stage for unearthing disease-causal exome mutations and motivates forecast of clinical drug response on a patient-by-patient basis. We suggest incorporation of structure-guided genetic inference assays into pharmaceutical and healthcare Oncology workflows. PMID:25465236

  7. Personalized ophthalmology

    PubMed Central

    Porter, LF; Black, GCM

    2014-01-01

    Porter L.F., Black G.C.M. Personalized ophthalmology. Clin Genet 2014: 86: 1–11. © 2014 The Authors. Clinical Genetics published by John Wiley & Sons A/S. Published by John Wiley & Sons Ltd., 2014 Ophthalmology has been an early adopter of personalized medicine. Drawing on genomic advances to improve molecular diagnosis, such as next-generation sequencing, and basic and translational research to develop novel therapies, application of genetic technologies in ophthalmology now heralds development of gene replacement therapies for some inherited monogenic eye diseases. It also promises to alter prediction, diagnosis and management of the complex disease age-related macular degeneration. Personalized ophthalmology is underpinned by an understanding of the molecular basis of eye disease. Two important areas of focus are required for adoption of personalized approaches: disease stratification and individualization. Disease stratification relies on phenotypic and genetic assessment leading to molecular diagnosis; individualization encompasses all aspects of patient management from optimized genetic counseling and conventional therapies to trials of novel DNA-based therapies. This review discusses the clinical implications of these twin strategies. Advantages and implications of genetic testing for patients with inherited eye diseases, choice of molecular diagnostic modality, drivers for adoption of personalized ophthalmology, service planning implications, ethical considerations and future challenges are considered. Indeed, whilst many difficulties remain, personalized ophthalmology truly has the potential to revolutionize the specialty. PMID:24665880

  8. The genetic association between personality and major depression or bipolar disorder. A polygenic score analysis using genome-wide association data

    PubMed Central

    Middeldorp, C M; de Moor, M H M; McGrath, L M; Gordon, S D; Blackwood, D H; Costa, P T; Terracciano, A; Krueger, R F; de Geus, E J C; Nyholt, D R; Tanaka, T; Esko, T; Madden, P A F; Derringer, J; Amin, N; Willemsen, G; Hottenga, J-J; Distel, M A; Uda, M; Sanna, S; Spinhoven, P; Hartman, C A; Ripke, S; Sullivan, P F; Realo, A; Allik, J; Heath, A C; Pergadia, M L; Agrawal, A; Lin, P; Grucza, R A; Widen, E; Cousminer, D L; Eriksson, J G; Palotie, A; Barnett, J H; Lee, P H; Luciano, M; Tenesa, A; Davies, G; Lopez, L M; Hansell, N K; Medland, S E; Ferrucci, L; Schlessinger, D; Montgomery, G W; Wright, M J; Aulchenko, Y S; Janssens, A C J W; Oostra, B A; Metspalu, A; Abecasis, G R; Deary, I J; Räikkönen, K; Bierut, L J; Martin, N G; Wray, N R; van Duijn, C M; Smoller, J W; Penninx, B W J H; Boomsma, D I

    2011-01-01

    The relationship between major depressive disorder (MDD) and bipolar disorder (BD) remains controversial. Previous research has reported differences and similarities in risk factors for MDD and BD, such as predisposing personality traits. For example, high neuroticism is related to both disorders, whereas openness to experience is specific for BD. This study examined the genetic association between personality and MDD and BD by applying polygenic scores for neuroticism, extraversion, openness to experience, agreeableness and conscientiousness to both disorders. Polygenic scores reflect the weighted sum of multiple single-nucleotide polymorphism alleles associated with the trait for an individual and were based on a meta-analysis of genome-wide association studies for personality traits including 13 835 subjects. Polygenic scores were tested for MDD in the combined Genetic Association Information Network (GAIN-MDD) and MDD2000+ samples (N=8921) and for BD in the combined Systematic Treatment Enhancement Program for Bipolar Disorder and Wellcome Trust Case–Control Consortium samples (N=6329) using logistic regression analyses. At the phenotypic level, personality dimensions were associated with MDD and BD. Polygenic neuroticism scores were significantly positively associated with MDD, whereas polygenic extraversion scores were significantly positively associated with BD. The explained variance of MDD and BD, ∼0.1%, was highly comparable to the variance explained by the polygenic personality scores in the corresponding personality traits themselves (between 0.1 and 0.4%). This indicates that the proportions of variance explained in mood disorders are at the upper limit of what could have been expected. This study suggests shared genetic risk factors for neuroticism and MDD on the one hand and for extraversion and BD on the other. PMID:22833196

  9. Cluster B personality symptoms in persons at genetic risk for schizophrenia are associated with social competence and activation of the right temporo-parietal junction during emotion processing.

    PubMed

    Goldschmidt, Micaela Giuliana; Villarreal, Mirta Fabiana; de Achával, Delfina; Drucaroff, Lucas Javier; Costanzo, Elsa Yolanda; Castro, Mariana Nair; Pahissa, Jaime; Camprodon, Joan; Nemeroff, Charles; Guinjoan, Salvador Martín

    2014-01-30

    Personality disorders are common in nonpsychotic siblings of patients with schizophrenia, and some personality traits in this group may be associated with an increased risk for full-blown psychosis. We sought to establish if faulty right-hemisphere activation induced by social cognitive tasks, as previously described in patients with schizophrenia, is associated with specific personality symptoms in their unaffected siblings. We observed that cluster B personality symptoms in this group were inversely related to activation in the right temporo parietal junction (rTPJ, a structure critical in social cognitive processing) in response to a basic emotion processing task and also to social competence, whereas in contrast to our initial hypothesis, cluster A traits were not associated with right hemisphere activation during emotion processing or with social competence. These findings suggest the existence of clinical traits in at-risk individuals which share a common neurobiological substrate with schizophrenia, in regards to social performance.

  10. Ethical questions raised by human genetics. A personal contribution to the preparation of a legal instrument of the Council of Europe on human genetics (part I).

    PubMed

    Sebatier, S

    1998-01-01

    (1) Classification of so-called "genetic" diseases. (1.1) Diseases linked to chromosomal abnormalities. (1.2) Monogenic diseases. (1.3) Polygenic and multifactorial diseases. (1.4) Mitochondrial diseases. (1.5) Diseases involving infectious agents. (2) Genetic screening and diagnoses. (2.1) Community screening and genetics. (2.2) Prenuptial genetic diagnosis. (2.3) Pre-ICSI diagnosis. (2.4) Pre-implantation diagnosis. (2.5) Prenatal diagnosis. (2.6) Neonatal diagnosis. (3) Access to screening and diagnosis results.

  11. Role of 5-HTTLPR polymorphism in the development of the inward/outward personality organization: a genetic association study.

    PubMed

    Nardi, Bernardo; Marini, Alessandra; Turchi, Chiara; Arimatea, Emidio; Tagliabracci, Adriano; Bellantuono, Cesario

    2013-01-01

    Reciprocity with primary caregivers affects subjects' adaptive abilities toward the construction of the most useful personal meaning organization (PMO) with respect to their developmental environment. Within cognitive theory the post-rationalist approach has outlined two basic categories of identity construction and of regulation of cognitive and emotional processes: the Outward and the Inward PMO. The presence of different, consistent clinical patterns in Inward and Outward subjects is paralleled by differences in cerebral activation during emotional tasks on fMRI and by different expression of some polymorphisms in serotonin pathways. Since several lines of evidence support a role for the 5-HTTLPR polymorphism in mediating individual susceptibility to environmental emotional stimuli, this study was conducted to investigate its influence in the development of the Inward/Outward PMO. PMO was assessed and the 5-HTTLPR polymorphism investigated in 124 healthy subjects who were subdivided into an Inward (n = 52) and an Outward (n = 72) group. Case-control comparisons of short allele (S) frequencies showed significant differences between Inwards and Outwards (p = 0.036, χ2 test; p = 0.026, exact test). Genotype frequencies were not significantly different although values slightly exceeded p ≤ 0.05 (p = 0.056, χ2 test; p = 0.059, exact test). Analysis of the 5-HTTLPR genotypes according to the recessive inheritance model showed that the S/S genotype increased the likelihood of developing an Outward PMO (p = 0.0178, χ2 test; p = 0.0143, exact test; OR = 3.43, CI (95%) = 1.188-9.925). A logistic regression analysis confirmed the association between short allele and S/S genotypes with the Outward PMO also when gender and age were considered. However none of the differences remained significant after correction for multiple testing, even though using the recessive model they approach significance. Overall our data seem to suggest a putative genetic basis for

  12. Role of 5-HTTLPR polymorphism in the development of the inward/outward personality organization: a genetic association study.

    PubMed

    Nardi, Bernardo; Marini, Alessandra; Turchi, Chiara; Arimatea, Emidio; Tagliabracci, Adriano; Bellantuono, Cesario

    2013-01-01

    Reciprocity with primary caregivers affects subjects' adaptive abilities toward the construction of the most useful personal meaning organization (PMO) with respect to their developmental environment. Within cognitive theory the post-rationalist approach has outlined two basic categories of identity construction and of regulation of cognitive and emotional processes: the Outward and the Inward PMO. The presence of different, consistent clinical patterns in Inward and Outward subjects is paralleled by differences in cerebral activation during emotional tasks on fMRI and by different expression of some polymorphisms in serotonin pathways. Since several lines of evidence support a role for the 5-HTTLPR polymorphism in mediating individual susceptibility to environmental emotional stimuli, this study was conducted to investigate its influence in the development of the Inward/Outward PMO. PMO was assessed and the 5-HTTLPR polymorphism investigated in 124 healthy subjects who were subdivided into an Inward (n = 52) and an Outward (n = 72) group. Case-control comparisons of short allele (S) frequencies showed significant differences between Inwards and Outwards (p = 0.036, χ2 test; p = 0.026, exact test). Genotype frequencies were not significantly different although values slightly exceeded p ≤ 0.05 (p = 0.056, χ2 test; p = 0.059, exact test). Analysis of the 5-HTTLPR genotypes according to the recessive inheritance model showed that the S/S genotype increased the likelihood of developing an Outward PMO (p = 0.0178, χ2 test; p = 0.0143, exact test; OR = 3.43, CI (95%) = 1.188-9.925). A logistic regression analysis confirmed the association between short allele and S/S genotypes with the Outward PMO also when gender and age were considered. However none of the differences remained significant after correction for multiple testing, even though using the recessive model they approach significance. Overall our data seem to suggest a putative genetic basis for

  13. 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 ...

  14. 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...

  15. The prosocial personality and its facets: genetic and environmental architecture of mother-reported behavior of 7-year-old twins.

    PubMed

    Knafo-Noam, Ariel; Uzefovsky, Florina; Israel, Salomon; Davidov, Maayan; Zahn-Waxler, Caroyln

    2015-01-01

    Children vary markedly in their tendency to behave prosocially, and recent research has implicated both genetic and environmental factors in this variability. Yet, little is known about the extent to which different aspects of prosociality constitute a single dimension (the prosocial personality), and to the extent they are intercorrelated, whether these aspects share their genetic and environmental origins. As part of the Longitudinal Israeli Study of Twins (LIST), mothers of 183 monozygotic (MZ) and dizygotic (DZ) 7-year-old twin pairs (51.6% male) reported regarding their children's prosociality using questionnaires. Five prosociality facets (sharing, social concern, kindness, helping, and empathic concern) were identified. All five facets intercorrelated positively (r > 0.39) suggesting a single-factor structure to the data, consistent with the theoretical idea of a single prosociality trait. Higher MZ than DZ twin correlations indicated genetic contributions to each prosociality facet. A common-factor-common-pathway multivariate model estimated high (69%) heritability for the common prosociality factor, with the non-shared environment and error accounting for the remaining variance. For each facet, unique genetic and environmental contributions were identified as well. The results point to the presence of a broad prosociality phenotype, largely affected by genetics; whereas additional genetic and environmental factors contribute to different aspects of prosociality, such as helping and sharing.

  16. Higher frequency of genetic variants conferring increased risk for ADRs for commonly used drugs treating cancer, AIDS and tuberculosis in persons of African descent.

    PubMed

    Aminkeng, F; Ross, C J D; Rassekh, S R; Brunham, L R; Sistonen, J; Dube, M-P; Ibrahim, M; Nyambo, T B; Omar, S A; Froment, A; Bodo, J-M; Tishkoff, S; Carleton, B C; Hayden, M R

    2014-04-01

    There is established clinical evidence for differences in drug response, cure rates and survival outcomes between different ethnic populations, but the causes are poorly understood. Differences in frequencies of functional genetic variants in key drug response and metabolism genes may significantly influence drug response differences in different populations. To assess this, we genotyped 1330 individuals of African (n=372) and European (n=958) descent for 4535 single-nucleotide polymorphisms in 350 key drug absorption, distribution, metabolism, elimination and toxicity genes. Important and remarkable differences in the distribution of genetic variants were observed between Africans and Europeans and among the African populations. These could translate into significant differences in drug efficacy and safety profiles, and also in the required dose to achieve the desired therapeutic effect in different populations. Our data points to the need for population-specific genetic variation in personalizing medicine and care.

  17. Higher frequency of genetic variants conferring increased risk for ADRs for commonly used drugs treating cancer, AIDS and tuberculosis in persons of African descent

    PubMed Central

    Aminkeng, F; Ross, CJD; Rassekh, SR; Brunham, LR; Sistonen, J; Dube, M-P; Ibrahim, M; Nyambo, TB; Omar, SA; Froment, A; Bodo, J-M; Tishkoff, S; Carleton, BC; Hayden, MR

    2015-01-01

    There is established clinical evidence for differences in drug response, cure rates and survival outcomes between different ethnic populations, but the causes are poorly understood. Differences in frequencies of functional genetic variants in key drug response and metabolism genes may significantly influence drug response differences in different populations. To assess this, we genotyped 1330 individuals of African (n = 372) and European (n = 958) descent for 4535 single-nucleotide polymorphisms in 350 key drug absorption, distribution, metabolism, elimination and toxicity genes. Important and remarkable differences in the distribution of genetic variants were observed between Africans and Europeans and among the African populations. These could translate into significant differences in drug efficacy and safety profiles, and also in the required dose to achieve the desired therapeutic effect in different populations. Our data points to the need for population-specific genetic variation in personalizing medicine and care. PMID:23588107

  18. Counselee participation in follow-up breast cancer genetic counselling visits and associations with achievement of the preferred role, cognitive outcomes, risk perception alignment and perceived personal control.

    PubMed

    Albada, Akke; Ausems, Margreet G E M; van Dulmen, Sandra

    2014-09-01

    The purpose of the study was to assess the counselee participation in the follow-up visits, compared to the first visits, for breast cancer genetic counselling and to explore associations with counselees' achievement of their preferred role in decision making, information recall, knowledge, risk perception alignment and perceived personal control. First and follow-up visits for breast cancer genetic counselling of 96 counselees of a Dutch genetics center were videotaped (2008-2010). Counselees completed questionnaires before counselling (T1), after the follow-up visit (T2) and one year after the follow-up visit (T3). Consultations were rated with the Roter Interaction Analysis System (RIAS). Counselee participation was measured as the percentage of counselee utterances, the percentage of counselee questions and the interactivity (number of turns per minute). Follow-up visits had higher levels of counselee participation than first visits as assessed by the percentage of counselee talk, the interactivity and counselee questions. More counselee talk in the follow-up visit was related to higher achievement of the preferred role (T2) and higher perceived personal control (T3). Higher interactivity in the follow-up visit was related to lower achievement of the preferred role in decision making and lower information recall (T2). There were no significant associations with the percentage of questions asked and none of the participation measures was related to knowledge, risk perception alignment and perceived personal control (T2). In line with the interviewing admonishment 'talk less and listen more', the only assessment of counselee participation associated to better outcomes is the percentage of counselee talk. High interactivity might be associated with lower recall in breast cancer genetic counselees who are generally highly educated. However, this study was limited by a small sample size and a heterogeneous group of counselees. Research is needed on the interactions

  19. 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

  20. Reproductive decisions after fetal genetic counselling.

    PubMed

    Pergament, Eugene; Pergament, Deborah

    2012-10-01

    A broad range of testing modalities for fetal genetic disease has been established. These include carrier screening for single-gene mutations, first-trimester and second-trimester screening for chromosome abnormalities and open neural-tube defects, prenatal diagnosis by means of chorionic villus sampling and amniocentesis, and preimplantation genetic diagnosis. Reproductive decisions before and after fetal genetic counselling represent the culmination of a dynamic interaction between prospective parents, obstetrician and genetic counsellor. The decision to undergo genetic testing before and after genetic counselling is influenced by a host of interrelated factors, including patient-partner and family relationships, patient-physician communication, societal mores, religious beliefs, and the media. Because of the complexity of personal and societal factors involved, it is not surprising that genetic counselling concerning reproductive decision-making must be individualised. A limited number of principles, guidelines and standards apply when counselling about testing for fetal genetic disease. These principles are that genetic counselling should be non-directive and unbiased and that parental decisions should be supported regardless of the reproductive choice. A critical responsibility of the obstetrician and genetic counsellor is to provide accurate and objective information about the implications, advantages, disadvantages and consequences of any genetic testing applied to prospective parents and their fetuses. These principles and responsibilities will be tested as newer technologies, such as array comparative genome hybridisation, non-invasive prenatal diagnosis and sequencing of the entire genome are introduced into the field of reproductive genetics and become routine practice.

  1. The Genetic Information Nondiscrimination Act (GINA): public policy and medical practice in the age of personalized medicine.

    PubMed

    Feldman, Eric A

    2012-06-01

    Survey data suggest that many people fear genetic discrimination by health insurers or employers. In fact, such discrimination has not yet been a significant problem. This article examines the fear and reality of genetic discrimination in the United States, describes how Congress sought to prohibit such discrimination by passing the Genetic Information Nondiscrimination Act of 2008 (GINA), and explores the implications of GINA for general internists and their institutions. It concludes that medical providers and health care institutions must be familiar with the general intent and specific terms of GINA, and should continue to collect genetic information that can contribute to the high quality provision of medical treatment. Not doing so violates their medical mission and diminishes the quality of care patients deserve.

  2. An Altered Treatment Plan Based on Direct to Consumer (DTC) Genetic Testing: Personalized Medicine from the Patient/Pin-cushion Perspective.

    PubMed

    Tenenbaum, Jessica D; James, Andra; Paulyson-Nuñez, Kristin

    2012-10-30

    Direct to consumer (DTC) genomic services facilitate the personalized and participatory aspects of "P4" medicine, but raise questions regarding use of genomic data in providing predictive and preventive healthcare. We illustrate the issues involved by describing a pregnancy management case in which a treatment plan was modified based on a DTC result. A woman whose personal and family history were otherwise unremarkable for thromboembolism learned through DTC testing about the presence of a prothrombin (factor 2) gene mutation (rs1799963). Twice daily injections of enoxaparin were recommended throughout pregnancy for this patient who, without prior knowledge of this mutation, would not have been offered such therapy. Moreover, genetically based medical guidelines are a moving target, and treatment of thrombophilic conditions in asymptomatic patients is controversial. We address the state of the art in actionable personalized medicine with respect to clotting disorders in pregnancy, as well as other factors at play- economics, patient preference, and clinical decision support. We also discuss what steps are needed to increase the utility of genomic data in personalized medicine by collecting information and converting it into actionable knowledge.

  3. Personality in Relation to Genetic Liability for Schizophrenia and Bipolar Disorder: Differential Associations with the COMT Val108/158Met Polymorphism

    PubMed Central

    Silberschmidt, Amy L.; Sponheim, Scott R.

    2009-01-01

    Schizophrenia and bipolar disorder may share aspects of genetic etiology. Evidence supports the Val108/158Met polymorphism of the Catechol-o-Methyltransferase (COMT) gene as potentially contributing to the etiology of both disorders. To determine whether the COMT gene is associated with personality traits related to genetic risk for either schizophrenia or bipolar disorder, we examined dimensions of personality psychopathology in biological relatives of individuals with the disorders. Specifically, we contrasted personality characteristics of first-degree relatives of people with schizophrenia, first-degree relatives of people with bipolar-I disorder, and nonpsychiatric control participants using scores from the Dimensional Assessment of Personality Pathology – Brief Questionnaire (DAPP-BQ). We also characterized the COMT Val108/158Met polymorphism of subjects. Compared to controls, relatives of schizophrenia patients scored lower on stimulus seeking and higher on restrictive expression and social avoidance. Compared to relatives of bipolar patients, relatives of schizophrenia patients had lower scores on narcissism, rejectionality (i.e., rejection of ideas of others), stimulus seeking, passive-aggressive oppositionality, and self-harm. The subset of relatives of schizophrenia patients who were COMT val homozygotes exhibited lower scores on narcissism, rejectionality, and stimulus seeking than met homozygote relatives of schizophrenia patients and control participants. Although relatives of bipolar patients showed scale elevations consistent with emotional dysregulation, the scores failed to be associated with the Val108/158Met polymorphism. Abnormally low narcissism and rejectionality in val homozygote relatives of schizophrenia patients suggests that the val allele of the COMT polymorphism may be associated with an underdeveloped self-concept phenomenologically similar to made volition and passivity experiences comprising first-rank symptoms of schizophrenia

  4. Personal exposure to PM2.5, genetic variants and DNA damage: a multi-center population-based study in Chinese.

    PubMed

    Chu, Minjie; Sun, Chongqi; Chen, Weihong; Jin, Guangfu; Gong, Jianhang; Zhu, Meng; Yuan, Jing; Dai, Juncheng; Wang, Meilin; Pan, Yun; Song, Yuanchao; Ding, Xiaojie; Guo, Xuejiang; Du, Mulong; Xia, Yankai; Kan, Haidong; Zhang, Zhengdong; Hu, Zhibin; Wu, Tangchun; Shen, Hongbing

    2015-06-15

    Exposure to particulate matter (e.g., PM2.5) may result in DNA damage, a major culprit in mutagenesis and environmental toxicity. DNA damage levels may vary among individuals simultaneously exposed to PM2.5, however, the genetic determinants are still unclear. To explore whether PM2.5 exposure and genetic variants contribute to the alteration in DNA damage, we recruited 328 subjects from three independent cohorts (119 from Zhuhai, 123 from Wuhan and 86 from Tianjin) in southern, central and northern China with different PM2.5 exposure levels. Personal 24-h PM2.5 exposure levels and DNA damage levels of peripheral blood lymphocytes were evaluated. Genotyping were performed using Illumina Human Exome BeadChip with 241,305 single nucleotide variants (SNVs). The DNA damage levels are consistent with the PM2.5 exposure levels of each cohort. A total of 35 SNVs were consistently associated with DNA damage levels among the three cohorts with pooled P values less than 1.00×10(-3) after adjustment for age, gender, smoking status and PM2.5 exposure levels, of which, 18 SNVs together with gender and PM2.5 exposure levels were independent factors contributing to DNA damage. Gene-based test revealed 3 genes significantly associated with DNA damage levels (P=5.11×10(-3) for POLH, P=2.88×10(-3) for RIT2 and P=2.29×10(-2) for CNTN4). Gene ontology (GO) analyses indicated that the identified variants were significantly enriched in DNA damage response pathway. Our findings highlight the importance of genetic variation as well as personal PM2.5 exposure in modulating individual DNA damage levels.

  5. Source apportionment of human personal exposure to volatile organic compounds in homes, offices and outdoors by chemical mass balance and genetic algorithm receptor models.

    PubMed

    Gokhale, Sharad; Kohajda, Tibor; Schlink, Uwe

    2008-12-15

    A number of past studies have shown the prevalence of a considerable amount of volatile organic compounds (VOCs) in workplace, home and outdoor microenvironments. The quantification of an individual's personal exposure to VOCs in each of these microenvironments is an essential task to recognize the health risks. In this paper, such a study of source apportionment of the human exposure to VOCs in homes, offices, and outdoors has been presented. Air samples, analysed for 25 organic compounds and sampled during one week in homes, offices, outdoors and close to persons, at seven locations in the city of Leipzig, have been utilized to recognize the concentration pattern of VOCs using the chemical mass balance (CMB) receptor model. In result, the largest contribution of VOCs to the personal exposure is from homes in the range of 42 to 73%, followed by outdoors, 18 to 34%, and the offices, 2 to 38% with the corresponding concentration ranges of 35 to 80 microg m(- 3), 10 to 45 microg m(- 3) and 1 to 30 microg m(- 3) respectively. The species such as benzene, dodecane, decane, methyl-cyclopentane, triethyltoluene and trichloroethylene dominate outdoors; methyl-cyclohexane, triethyltoluene, nonane, octane, tetraethyltoluene, undecane are highest in the offices; while, from the terpenoid group like 3-carane, limonene, a-pinene, b-pinene and the aromatics toluene and styrene most influence the homes. A genetic algorithm (GA) model has also been applied to carry out the source apportionment. Its results are comparable with that of CMB. PMID:18822447

  6. Longitudinal-Twin Study of Borderline Personality Disorder Traits and Substance Use in Adolescence: Developmental Change, Reciprocal Effects, and Genetic and Environmental Influences

    PubMed Central

    Bornovalova, Marina A.; Hicks, Brian M.; Iacono, William G.; McGue, Matt

    2011-01-01

    Though the comorbidity between borderline personality disorder (BPD) and substance abuse is well-established, there are few longitudinal studies that examine its developmental origins or whether the comorbidity is due to common genetic or environmental risk factors. To fill this gap, we utilized a large sample of female adolescent twins (N = 1280) to examine the developmental course, reciprocal influences, and the genetic and environmental factors underlying the co-occurrence of BPD traits and substance use from age 14 to 18. Rank-order stability was moderate to high for both BPD traits (r = .58) and substance use (r = .51), while mean-levels of substance use increased substantially from age 14 to 18 (d = .77) and BPD traits showed a small decline (d = −.21). BPD traits and substance use exhibited concurrent and prospective associations; however, the longitudinal associations dropped to non-significance after accounting for the temporal stability of each trait. Twin analyses revealed that shared environmental factors accounted for the association between BPD traits and substance use at age 14, but genetic factors account for the association at age 18. These results indicate that, at least in adolescence, the comorbidity between BPD traits and substance use is a consequence of common risk factors rather than due to one being a casual antecedent of the other. PMID:22642461

  7. Nondirectiveness in prenatal genetics: patients read between the lines.

    PubMed

    Anderson, G

    1999-03-01

    For decades questionnaires have been used to measure the cognitive and psychological effects of prenatal genetic testing, but little is known about why some women undergo testing and others decline. Research indicates that many factors influence decision making, including values and beliefs. What is often denied rather than recognized is that the professional and personal values and beliefs held by the health care provider influence the patient's decision. It is assumed that, if genetic services are delivered in a nondirective manner, patients will not be affected by the provider's personal and professional standpoint. The qualitative research data reported here challenge this assumption. Getting to know patients' moral understanding and patterns of ethical reasoning by listening to their personal stories is recommended as a better way for nurses to help patients to make informed and autonomous decisions about prenatal genetic screening or diagnostic tests. PMID:10358528

  8. Asexual metazoans undergo senescence.

    PubMed

    Martínez, D E; Levinton, J S

    1992-10-15

    August Weismann popularized the notion that metazoans have a potentially immortal germ line separated from a mortal soma, and evolutionary biologists regard senescence as an evolved characteristic of the soma. Many have claimed that metazoans that do not sequester their germ line have no clear distinction between germ line and soma, and consequently they should lack senescence. Here we present experimental evidence that senescence occurs in the asexually reproducing marine oligochaete Paranais litoralis. We also analyze data reported in Sonneborn's classical study and show that the rhabdocoel Stenostomum incaudatum undergoes senescence. We argue that the stability of commitment to somatic function and the fact that asexual metazoans form their germ cells from undifferentiated stem cells are sufficient to allow for senescence of the asexual metazoan's soma. Thus the evolution of somatic differentiation, and not germ-line sequestration, would be the necessary condition for the evolution of senescence. PMID:11607334

  9. Genetic variants in AVPR1A linked to autism predict amygdala activation and personality traits in healthy humans

    PubMed Central

    Meyer-Lindenberg, A; Kolachana, B; Gold, B; Olsh, A; Nicodemus, KK; Mattay, V; Dean, M; Weinberger, DR

    2009-01-01

    In mammals, the neuropeptide vasopressin is a key molecule for complex emotional and social behaviours. Two microsatellite polymorphisms, RS1 and RS3, near the promoter of AVPR1A, encoding the receptor subtype most heavily implicated in behaviour regulation, have been linked to autism and behavioural traits. However, the impact of these variants on human brain function is unknown. Here we show that human amygdala function is strongly associated with genetic variation in AVPR1A. Using an imaging genetics approach in a sample of 121 volunteers studied with an emotional face-matching paradigm, we found that differential activation of amygdala is observed in carriers of risk alleles for RS3 and RS1. Alleles in RS1 previously reported to be significantly over- and undertransmitted to autistic probands showed opposing effects on amygdala activation. Furthermore, we show functional difference in human brain between short and long repeat lengths that mirror findings recently obtained in a corresponding variant in voles. Our results indicate a neural mechanism mediating genetic risk for autism through an impact on amygdala signalling and provide a rationale for exploring therapeutic strategies aimed at abnormal amygdala function in this disorder. PMID:18490926

  10. How Is Genetic Testing Done?

    MedlinePlus

    ... Testing How is genetic testing done? How is genetic testing done? Once a person decides to proceed ... is called informed consent . For more information about genetic testing procedures: The Genetic Science Learning Center at ...

  11. Population Pharmacokinetics of Busulfan in Pediatric and Young Adult Patients Undergoing Hematopoietic Cell Transplant: A Model-Based Dosing Algorithm for Personalized Therapy and Implementation into Routine Clinical Use

    PubMed Central

    Long-Boyle, Janel; Savic, Rada; Yan, Shirley; Bartelink, Imke; Musick, Lisa; French, Deborah; Law, Jason; Horn, Biljana; Cowan, Morton J.; Dvorak, Christopher C.

    2014-01-01

    Background Population pharmacokinetic (PK) studies of busulfan in children have shown that individualized model-based algorithms provide improved targeted busulfan therapy when compared to conventional dosing. The adoption of population PK models into routine clinical practice has been hampered by the tendency of pharmacologists to develop complex models too impractical for clinicians to use. The authors aimed to develop a population PK model for busulfan in children that can reliably achieve therapeutic exposure (concentration-at-steady-state, Css) and implement a simple, model-based tool for the initial dosing of busulfan in children undergoing HCT. Patients and Methods Model development was conducted using retrospective data available in 90 pediatric and young adult patients who had undergone HCT with busulfan conditioning. Busulfan drug levels and potential covariates influencing drug exposure were analyzed using the non-linear mixed effects modeling software, NONMEM. The final population PK model was implemented into a clinician-friendly, Microsoft Excel-based tool and used to recommend initial doses of busulfan in a group of 21 pediatric patients prospectively dosed based on the population PK model. Results Modeling of busulfan time-concentration data indicates busulfan CL displays non-linearity in children, decreasing up to approximately 20% between the concentrations of 250–2000 ng/mL. Important patient-specific covariates found to significantly impact busulfan CL were actual body weight and age. The percentage of individuals achieving a therapeutic Css was significantly higher in subjects receiving initial doses based on the population PK model (81%) versus historical controls dosed on conventional guidelines (52%) (p = 0.02). Conclusion When compared to the conventional dosing guidelines, the model-based algorithm demonstrates significant improvement for providing targeted busulfan therapy in children and young adults. PMID:25162216

  12. Risk Information Exposure and Direct to Consumer Genetic Testing for BRCA Mutations among Women with a Personal or Family History of Breast or Ovarian Cancer

    PubMed Central

    Gray, Stacy W.; O’Grady, Cristin; Karp, Lauren; Smith, Daniel; Schwartz, J. Sanford; Hornik, Robert C.; Armstrong, Katrina

    2009-01-01

    Background Direct to consumer (DTC) BRCA testing may expand access to genetic testing and enhance cancer prevention efforts. However, it is not know if current DTC websites provide adequate risk information for informed medical decision-making. Methods 284 women with a personal or family history of breast/ovarian cancer were randomly assigned to view a “mock” DTC commercial website (control condition: CC, n=93) or the same “mock” website that included information on the potential risks of obtaining genetic testing online. Risk information was framed two ways: risk information attributed to expert sources (ES, n=98) and unattributed risk information (URI, n=93). Participants completed an online survey. Endpoints were intentions to get BRCA testing, testing site preference and beliefs about DTC BRCA testing. Results Sample characteristics: mean age 39 (range 18–70), 82% white, mean education 3 yrs. college. Women exposed to risk information had lower intentions to get BRCA testing than women in the CC (adjusted odds ratio (OR) 0.48; 95% confidence interval (CI) 0.26–0.87, p=0.016), less positive beliefs about online BRCA testing (adjusted OR 0.48; 95% 0.27–0.86, p=0.014). Women in the ES condition were more likely to prefer clinic based testing than women in the CC (adjusted OR 2.05; 95% CI 1.07–3.90, p=0.030). Conclusion Exposing women to information on the potential risks of online BRCA testing altered their intentions, beliefs and preferences for BRCA testing. Policy makers may want to consider content and framing of risk information on DTC websites as they formulate regulation for this rapidly growing industry. PMID:19318436

  13. The association of cytochrome P450 genetic polymorphisms with sulfolane formation and the efficacy of a busulfan-based conditioning regimen in pediatric patients undergoing hematopoietic stem cell transplantation.

    PubMed

    Uppugunduri, C R S; Rezgui, M A; Diaz, P H; Tyagi, A K; Rousseau, J; Daali, Y; Duval, M; Bittencourt, H; Krajinovic, M; Ansari, M

    2014-06-01

    Cytochrome P450 enzymes (CYPs) and flavin-containing monooxygenases (FMOs) likely have a role in the oxidation of intermediate metabolites of busulfan (Bu). In vitro studies to investigate the involvement of these enzymes are cumbersome because of the volatile nature of the intermediate metabolite tetrahydrothiophene (THT) and the lack of sensitive quantitation methods. This study explored the association between the CYP2C9, CYP2C19, CYP2B6 and FMO3 genotypes and sulfolane (Su, a water soluble metabolite of Bu) plasma levels in children undergoing hematopoietic stem cell transplantation (HSCT). The relationship between these genotypes and the effectiveness of myeloablative conditioning was also analyzed. Sixty-six children receiving an intravenous Bu-based myeloablative conditioning regimen were genotyped for common functional variant alleles in CYP2C9 (*2 and *3), CYP2C19 (*2 and *17), FMO3 (rs2266780, rs2266782 and rs1736557) and CYP2B6 (*5 and *9). The plasma levels of Bu and its metabolite Su were measured after the ninth Bu dose in a subset of 44 patients for whom plasma samples were available. The ratio of Bu to Su was considered the metabolic ratio (MR) and was compared across the genotype groups. Higher MRs were observed in CYP2C9*2 and *3 allele carriers (mean±s.d.: 7.8±3.6 in carriers vs 4.4±2.2 in non-carriers; P=0.003). An increased incidence of graft failure was observed among patients with an MR>5 compared with those with MR values <5 (20% vs 0%; P=0.02). In contrast, a significantly higher incidence of relapse and graft failure (evaluated as event-free survival) was observed in patients with malignant disease who carried CYP2B6 alleles with reduced function on both chromosomes compared with carriers of at least one normal allele (100% vs 40%; P=0.0001). These results suggest that CYP2C9 has a role in the oxidation reactions of THT and indicate that it may be possible to predict the efficacy of Bu-based myeloablative conditioning before HSCT on the

  14. Perspective: Balancing Personalized Medicine and Personalized Care

    PubMed Central

    Cornetta, Kenneth; Brown, Candy Gunther

    2013-01-01

    The current description of personalized medicine by the National Institutes of Health is “the science of individualized prevention and therapy.” Although physicians are just beginning to see the promise of genetic medicine coming to fruition, the rapid pace of sequencing technology, informatics, and computer science predict a true revolution in the ability to care for patients in the near future. The enthusiasm expressed by researchers is well founded, but the expectations voiced by the public do not center on advancing technology. Rather, patients are asking for personalized care: a holistic approach that considers an individual’s physical, mental, and spiritual well-being. This perspective considers psychological, religious, and ethical challenges that may arise as the precision of preventive medicine improves. Psychological studies already highlight the barriers to single gene testing and suggest significant barriers to the predictive testing envisioned by personalized medicine. Certain religious groups will likely mount opposition if they believe personalized medicine encourages embryo selection. If the technology prompts cost-containment discussions, those concerned about the sanctity of life may raise ethical objections. Consequently, the availability of new scientific developments does not guarantee advances in treatment because patients may prove unwilling to receive and act upon personalized genetic information. This perspective highlights current efforts to incorporate personalized medicine and personalized care into the medical curriculum, genetic counseling, and other aspects of clinical practice. As these efforts are generally independent, the authors offer recommendations for physicians and educators so that personalized medicine can be implemented in a manner that meets patient expectations for personalized care. PMID:23348082

  15. 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.

  16. Personality Disorders

    MedlinePlus

    ... this page You are here Home » Personality Disorder Personality Disorder What is “Personality?” Personality refers to a distinctive set of traits, ... family, friends, and co-workers. What is a Personality Disorder? Those who struggle with a personality disorder ...

  17. Genetic imbalances detected by multiplex ligation-dependent probe amplification in a cohort of patients with oral squamous cell carcinoma-the first step towards clinical personalized medicine.

    PubMed

    Ribeiro, Ilda Patrícia; Marques, Francisco; Caramelo, Francisco; Ferrão, José; Prazeres, Hugo; Julião, Maria José; Rifi, Widad; Savola, Suvi; de Melo, Joana Barbosa; Baptista, Isabel Poiares; Carreira, Isabel Marques

    2014-05-01

    Oral tumors are a growing health problem worldwide; thus, it is mandatory to establish genetic markers in order to improve diagnosis and early detection of tumors, control relapses and, ultimately, delineate individualized therapies. This study was the first to evaluate and discuss the clinical applicability of a multiplex ligation-dependent probe amplification (MLPA) probe panel directed to head and neck cancer. Thirty primary oral squamous cell tumors were analyzed using the P428 MLPA probe panel. We detected genetic imbalances in 26 patients and observed a consistent pattern of distribution of genetic alterations in terms of losses and gains for some chromosomes, particularly for chromosomes 3, 8, and 11. Regarding the latter, some specific genes were highlighted due to frequent losses of genetic material--RARB, FHIT, CSMD1, GATA4, and MTUS1--and others due to gains--MCCC1, MYC, WISP1, PTK2, CCND1, FGF4, FADD, and CTTN. We also verified that the gains of MYC and WISP1 genes seem to suggest higher propensity of tumors localized in the floor of the mouth. This study proved the value of this MLPA probe panel for a first-tier analysis of oral tumors. The probemix was developed to include target regions that have been already shown to be of diagnostic/prognostic relevance for oral tumors. Furthermore, this study emphasized several of those specific genetic targets, suggesting its importance to oral tumor development, to predict patients' outcomes, and also to guide the development of novel molecular therapies.

  18. Human genetics

    SciTech Connect

    Carlson, E.A.

    1984-01-01

    This text provides full and balanced coverage of the concepts requisite for a thorough understanding of human genetics. Applications to both the individual and society are integrated throughout the lively and personal narrative, and the essential principles of heredity are clearly presented to prepare students for informed participation in public controversies. High-interest, controversial topics, including recombinant DNA technology, oncogenes, embryo transfer, environmental mutagens and carcinogens, IQ testing, and eugenics encourage understanding of important social issues.

  19. Using Workflow Modeling to Identify Areas to Improve Genetic Test Processes in the University of Maryland Translational Pharmacogenomics Project

    PubMed Central

    Cutting, Elizabeth M.; Overby, Casey L.; Banchero, Meghan; Pollin, Toni; Kelemen, Mark; Shuldiner, Alan R.; Beitelshees, Amber L.

    2015-01-01

    Delivering genetic test results to clinicians is a complex process. It involves many actors and multiple steps, requiring all of these to work together in order to create an optimal course of treatment for the patient. We used information gained from focus groups in order to illustrate the current process of delivering genetic test results to clinicians. We propose a business process model and notation (BPMN) representation of this process for a Translational Pharmacogenomics Project being implemented at the University of Maryland Medical Center, so that personalized medicine program implementers can identify areas to improve genetic testing processes. We found that the current process could be improved to reduce input errors, better inform and notify clinicians about the implications of certain genetic tests, and make results more easily understood. We demonstrate our use of BPMN to improve this important clinical process for CYP2C19 genetic testing in patients undergoing invasive treatment of coronary heart disease. PMID:26958179

  20. Immunoinformatics in personalized medicine.

    PubMed

    Gulukota, Kamalakar

    2003-01-01

    Diagnosis of human disease has been undergoing steady improvement over the past few centuries. Many ailments that were once considered a single entity have been classified into finer categories on the basis of response to therapy (e.g. type I and type II diabetes), inheritance (e.g. familial and non-familial polyposis coli), histology (e.g. small cell and adenocarcinoma of lung) and most recently transcriptional profiling (e.g. leukaemia, lymphoma). The next dimension in this finer categorization appears to be the typing of the patient rather than the disease i.e. disease X in person of type Y. The problem of personalized medicine is to devise tests which predict the type of individual, especially where the type is correlated with response to therapy. Immunology has been at the forefront of personalized medicine for quite a while, even though the term is not often used in this connection. Blood grouping and cross-matching (for blood transfusion), and anaphylaxis test (for penicillin) are just two examples. In this paper I will argue that immunological tests have an important place in the future of personalized medicine. I will describe methods we developed for personalizing vaccines based on MHC allele frequencies in human populations and methods for predicting peptide binding to class I MHC molecules. In conclusion, I will argue that immunological tests, and consequently immunoinformatics, will play a big role in making personalized medicine a reality. PMID:14712931

  1. Personal genomes: no bad news?

    PubMed

    Chadwick, Ruth

    2011-02-01

    Issues in genetics and genomics have been centre stage in Bioethics for much of its history, and have given rise to both negative and positive imagined futures. Ten years after the completion of the Human Genome Project, it is a good time to assess developments. The promise of whole genome sequencing of individuals requires reflection on personalization, genetic determinism, and privacy.

  2. 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.

  3. 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

  4. Screening and Health Behaviors among Persons Diagnosed with Familial Adenomatous Polyposis and Their Relatives

    PubMed Central

    James, Aimee S.; Chisholm, Phillip; Wolin, Kathleen Y.; Baxter, Melanie; Kaphingst, Kimberly; Davidson, Nicholas O.

    2012-01-01

    Familial Adenomatous Polyposis (FAP) is a rare autosomal dominantly inherited colorectal cancer syndrome. Individuals with FAP often undergo colectomy and are recommended to follow several surveillance protocols. Biological relatives of persons with FAP may also be at risk and thus should undergo genetic counseling. Screening adherence, genetic testing, and other health behaviors among individuals with FAP and their relatives are not well characterized. We conducted a cross-sectional self-report survey with individuals who have FAP (n = 35) and their biological relatives (n = 15). Respondents were recruited through a cancer center registry for inherited colon cancers. Most relatives had undergone colon cancer screening; 40% had undergone genetic testing. One fifth of respondents with FAP had not undergone an upper endoscopy, contrary to usual recommendations. Cigarette smoking rates were above average and were higher among FAP respondents. Use of vitamin supplements was fairly common, more so among those with FAP. Although most people had been screened, there are areas for improvement, notably for upper endoscopy among individuals with FAP and genetic testing among family members. Several other health-risk behaviors and health concerns other than FAP were identified. Further research into factors contributing to screening rates and other health behaviors in this high-risk population is warranted. PMID:22899922

  5. Personality disorders

    MedlinePlus

    ... person has a long-term pattern of behaviors, emotions, and thoughts that is very different from his or her culture's expectations. These behaviors interfere with the person's ability to function in relationships, work, or other settings.

  6. Personality Disorders

    MedlinePlus

    Personality disorders are a group of mental illnesses. They involve long-term patterns of thoughts and behaviors ... serious problems with relationships and work. People with personality disorders have trouble dealing with everyday stresses and ...

  7. How Can Consumers Be Sure a Genetic Test Is Valid and Useful?

    MedlinePlus

    ... and useful? How can consumers be sure a genetic test is valid and useful? Before undergoing genetic ... For more information about determining the quality of genetic tests: The Centers for Disease Control and Prevention ( ...

  8. Personalized Cancer Risk Assessments for Space Radiation Exposures.

    PubMed

    Locke, Paul A; Weil, Michael M

    2016-01-01

    Individuals differ in their susceptibility to radiogenic cancers, and there is evidence that this inter-individual susceptibility extends to HZE ion-induced carcinogenesis. Three components of individual risk: sex, age at exposure, and prior tobacco use, are already incorporated into the NASA cancer risk model used to determine safe days in space for US astronauts. Here, we examine other risk factors that could potentially be included in risk calculations. These include personal and family medical history, the presence of pre-malignant cells that could undergo malignant transformation as a consequence of radiation exposure, the results from phenotypic assays of radiosensitivity, heritable genetic polymorphisms associated with radiosensitivity, and postflight monitoring. Inclusion of these additional risk or risk reduction factors has the potential to personalize risk estimates for individual astronauts and could influence the determination of safe days in space. We consider how this type of assessment could be used and explore how the provisions of the federal Genetic Information Non-discrimination Act could impact the collection, dissemination and use of this information by NASA. PMID:26942127

  9. Personalized Cancer Risk Assessments for Space Radiation Exposures

    PubMed Central

    Locke, Paul A.; Weil, Michael M.

    2016-01-01

    Individuals differ in their susceptibility to radiogenic cancers, and there is evidence that this inter-individual susceptibility extends to HZE ion-induced carcinogenesis. Three components of individual risk: sex, age at exposure, and prior tobacco use, are already incorporated into the NASA cancer risk model used to determine safe days in space for US astronauts. Here, we examine other risk factors that could potentially be included in risk calculations. These include personal and family medical history, the presence of pre-malignant cells that could undergo malignant transformation as a consequence of radiation exposure, the results from phenotypic assays of radiosensitivity, heritable genetic polymorphisms associated with radiosensitivity, and postflight monitoring. Inclusion of these additional risk or risk reduction factors has the potential to personalize risk estimates for individual astronauts and could influence the determination of safe days in space. We consider how this type of assessment could be used and explore how the provisions of the federal Genetic Information Non-discrimination Act could impact the collection, dissemination and use of this information by NASA. PMID:26942127

  10. Biobanks and personalized medicine

    PubMed Central

    Olson, J.E.; Bielinski, S.J.; Ryu, E.; Winkler, E.M.; Takahashi, P.Y.; Pathak, J.; Cerhan, J.R.

    2016-01-01

    We provide a mini-review of how biobanks can support clinical genetics in the era of personalized medicine. We discuss types of biobanks, including disease specific and general biobanks not focused on one disease. We present considerations in setting up a biobank, including consenting and governance, biospecimens, risk factor and related data, informatics, and linkage to electronic health records for phenotyping. We also discuss the uses of biobanks and ongoing considerations, including genotype-driven recruitment, investigations of gene–environment associations, and the re-use of data generated from studies. Finally, we present a brief discussion of some of the unresolved issues, such as return of research results and sustaining biobanks over time. In summary, carefully designed biobanks can provide critical research and infrastructure support for clinical genetics in the era of personalized medicine. PMID:24588254

  11. Personalized biochemistry and biophysics.

    PubMed

    Kroncke, Brett M; Vanoye, Carlos G; Meiler, Jens; George, Alfred L; Sanders, Charles R

    2015-04-28

    Whole human genome sequencing of individuals is becoming rapid and inexpensive, enabling new strategies for using personal genome information to help diagnose, treat, and even prevent human disorders for which genetic variations are causative or are known to be risk factors. Many of the exploding number of newly discovered genetic variations alter the structure, function, dynamics, stability, and/or interactions of specific proteins and RNA molecules. Accordingly, there are a host of opportunities for biochemists and biophysicists to participate in (1) developing tools to allow accurate and sometimes medically actionable assessment of the potential pathogenicity of individual variations and (2) establishing the mechanistic linkage between pathogenic variations and their physiological consequences, providing a rational basis for treatment or preventive care. In this review, we provide an overview of these opportunities and their associated challenges in light of the current status of genomic science and personalized medicine, the latter often termed precision medicine.

  12. Personalized Biochemistry and Biophysics

    PubMed Central

    2016-01-01

    Whole human genome sequencing of individuals is becoming rapid and inexpensive, enabling new strategies for using personal genome information to help diagnose, treat, and even prevent human disorders for which genetic variations are causative or are known to be risk factors. Many of the exploding number of newly discovered genetic variations alter the structure, function, dynamics, stability, and/or interactions of specific proteins and RNA molecules. Accordingly, there are a host of opportunities for biochemists and biophysicists to participate in (1) developing tools to allow accurate and sometimes medically actionable assessment of the potential pathogenicity of individual variations and (2) establishing the mechanistic linkage between pathogenic variations and their physiological consequences, providing a rational basis for treatment or preventive care. In this review, we provide an overview of these opportunities and their associated challenges in light of the current status of genomic science and personalized medicine, the latter often termed precision medicine. PMID:25856502

  13. Personality traits and personality disorders.

    PubMed

    Deary, I J; Peter, A; Austin, E; Gibson, G

    1998-11-01

    The structure of personality disorder traits was examined in a sample of 400 undergraduates who completed the personality disorder questionnaire from the Structured Clinical Interview for DSM-III-R (SCID-II). The relations between personality disorder and normal personality traits indexed by the Eysenck Personality Questionnaire-Revised (EPQ-R) were examined. The three-cluster model of personality traits--as described in the DSM scheme--found equivocal support. Exploratory principal components analysis and confirmatory factor analysis found four broad factors of personality disorder that overlapped with normal personality traits: an asthenic factor related to neuroticism; an antisocial factor associated with psychoticism; an asocial factor linked to introversion-extraversion; and an anankastic (obsessive-compulsive) factor. There is growing agreement about the number and type of broad personality disorder dimensions; similar dimensions may be found in clinical and non-clinical samples, suggesting that those people with personality disorders differ quantitatively rather than qualitatively from others; and there is substantial overlap between normal and abnormal personality dimensions.

  14. LIMITING OCCUPATIONAL MEDICAL EVALUATIONS UNDER THE AMERICANS WITH DISABILITIES ACT AND THE GENETIC INFORMATION NONDISCRIMINATION ACT.

    PubMed

    Rothstein, Mark A; Roberts, Jessica; Guidotti, Tee L

    2015-01-01

    Although medical care delivery by one's personal physician is the paradigmatic American healthcare arrangement, in the workplace setting, many Americans undergo medical evaluations to assess their fitness for duty or degree of impairment. This Article explores the complex and evolving legal status of occupational medical evaluations. Beginning with the legal and ethical frameworks of occupational medical practice, the Article then examines the effects of increasingly detailed legal regulation under the Americans with Disabilities Act and the Genetic Information Nondiscrimination Act on employees, employers, and physicians. PMID:26863849

  15. Obesity Genes, Personalized Medicine, and Public Health Policy.

    PubMed

    Caulfield, Timothy

    2015-09-01

    The personalized medicine movement-also known as precision medicine and personalized genomics-has embraced the belief that genetic risk information can be used to motivate healthier choices and meaningful behaviour change. While a genuinely exciting area of research, there are numerous policy issues associated with a focus on the use of genetic risk information to personalize approaches to obesity prevention.

  16. 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 ...

  17. Personal Finance.

    ERIC Educational Resources Information Center

    Wagner, June G.

    2003-01-01

    This newsletter presents four articles designed to help business educators educate learners in grades K-12 about personal finance. "Now More Than Ever: The Need for Financial Literacy" examines the following topics: evidence that the United States is becoming a nation of debtors; the plummeting personal savings rate; the increasing complexity of…

  18. Mystery Person

    ERIC Educational Resources Information Center

    O'Brien, Tom

    2011-01-01

    This article features a mathematical game called "Mystery Person." The author describes how the Mystery Person game was tried with first-graders [age 6]. The Mystery games involve the generation of key questions, the coordination of information--often very complex information--and the formulation of consequences based on this coordination.…

  19. Enhancing genetic virtue.

    PubMed

    Walker, Mark

    2009-09-01

    The Genetic Virtue Project (GVP) is a proposed interdisciplinary effort between philosophers, psychologists and geneticists to discover and enhance human ethics using biotechnology genetic correlates of virtuous behavior. The empirical plausibility that virtues have biological correlates is based on the claims that (a) virtues are a subset of personality, specifically, personality traits conceived of as "enduring behaviors," and (b) that there is ample evidence that personality traits have a genetic basis. The moral necessity to use the GVP for moral enhancement is based on the claims that we should eliminate evil (as understood generically, not religiously), as some evil is a function of human nature. The GVP is defended against several ethical and political criticisms.

  20. Personal Competencies in Personalized Learning

    ERIC Educational Resources Information Center

    Redding, Sam

    2014-01-01

    Personal competencies--cognitive, metacognitive, motivational, and social/emotional--are applied by students in learning (mastery of knowledge and skills). These competencies are both acquired through learning and applied in the learning process. Personalized learning--a promising approach to education made practical by advances in…

  1. [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

  2. [Evaluation of quality of life in elders undergoing hemodialysis].

    PubMed

    Takemoto, Angélica Yukari; Okubo, Patrícia; Bedendo, João; Carreira, Lígia

    2011-06-01

    Hemodialysis affects not only physical but psychological and social aspects, with repercussions on personal and family life. Considering the increase in the elderly population in Brazil, this study aims to evaluate the quality of life of elderly patients with chronic renal failure undergoing hemodialysis. This is a quantitative, descriptive exploratory study with elderly patients held in a facility specializing in hemodialysis in Guarapuava, Paraná, Brazil. The data were collected between May and June 2010, through a structured instrument and were submitted to the statistical software Statistica 7.1. Analyzing the domains of the questionnaire the highest score refers to the social domain (70.42) and the lowest, to the physical domain (49.37). Thus, the quality of life of these elderly had to be low, with variations according to the analyzed field. Researches aimed at assessing quality of life are relevant and instrumentalize the daily practice of care.

  3. Personal Computers.

    ERIC Educational Resources Information Center

    Toong, Hoo-min D.; Gupta, Amar

    1982-01-01

    Describes the hardware, software, applications, and current proliferation of personal computers (microcomputers). Includes discussions of microprocessors, memory, output (including printers), application programs, the microcomputer industry, and major microcomputer manufacturers (Apple, Radio Shack, Commodore, and IBM). (JN)

  4. What Is Genetic Ancestry Testing?

    MedlinePlus

    ... from relatives or from historical documentation. Examination of DNA variations can provide clues about where a person's ... families with the same surname are related. Mitochondrial DNA testing: This type of testing identifies genetic variations ...

  5. Medical Management of Patients Undergoing Dentoalveolar Surgery.

    PubMed

    Abramowicz, Shelly; Roser, Steven M

    2015-08-01

    The oral and maxillofacial surgeon (OMS) should have an understanding of common medical comorbidities. This understanding allows for risk stratification and thus prevention of potential problems. Remaining knowledgeable regarding diseases, diagnosis, treatment strategies, and pharmacology ultimately improves patient care. This article provides an update on some of the most common medical diseases for the patient undergoing dentoalveolar surgery.

  6. Bacillary angiomatosis in a child undergoing chemotherapy.

    PubMed

    Myers, S A; Prose, N S; Garcia, J A; Wilson, K H; Dunsmore, K P; Kamino, H

    1992-10-01

    Bacillary angiomatosis is an infectious disease of the skin and viscera characterized by vascular lesions, originally described in patients with human immunodeficiency virus infection. There are also case reports of bacillary angiomatosis occurring in immunocompetent patients and in noninfected patients with suppressed immune function. We report a case of bacillary angiomatosis in a child undergoing chemotherapy for acute leukemia.

  7. Personal Responsibility and Lifestyle Diseases.

    PubMed

    Andersen, Martin Marchman; Nielsen, Morten Ebbe Juul

    2016-10-01

    What does it take for an individual to be personally responsible for behaviors that lead to increased risk of disease? We examine three approaches to responsibility that cover the most important aspects of the discussion of responsibility and spell out what it takes, according to each of them, to be responsible for behaviors leading to increased risk of disease. We show that only what we call the causal approach can adequately accommodate widely shared intuitions to the effect that certain causal influences-such as genetic make-up or certain social circumstances-diminish, or undermine personal responsibility. However, accepting the causal approach most likely makes personal responsibility impossible. We therefore need either to reject these widely shared intuitions about what counts as responsibility-softening or undermining or to accept that personal responsibility for behaviors leading to increased risk of disease rests on premises so shaky that personal responsibility is probably impossible.

  8. Personal Responsibility and Lifestyle Diseases.

    PubMed

    Andersen, Martin Marchman; Nielsen, Morten Ebbe Juul

    2016-10-01

    What does it take for an individual to be personally responsible for behaviors that lead to increased risk of disease? We examine three approaches to responsibility that cover the most important aspects of the discussion of responsibility and spell out what it takes, according to each of them, to be responsible for behaviors leading to increased risk of disease. We show that only what we call the causal approach can adequately accommodate widely shared intuitions to the effect that certain causal influences-such as genetic make-up or certain social circumstances-diminish, or undermine personal responsibility. However, accepting the causal approach most likely makes personal responsibility impossible. We therefore need either to reject these widely shared intuitions about what counts as responsibility-softening or undermining or to accept that personal responsibility for behaviors leading to increased risk of disease rests on premises so shaky that personal responsibility is probably impossible. PMID:27473408

  9. 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.

  10. Motherhood and Genetic Screening: A Personal Perspective

    ERIC Educational Resources Information Center

    Place, Fiona

    2008-01-01

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

  11. R.B. Cattell and Behavior Genetics.

    ERIC Educational Resources Information Center

    Loehlin, John C.

    1984-01-01

    Raymond Cattell's efforts to sort out the relationships of genetic or environmental patterns to personality factors have contributed to behavior genetics. Early writings on the projected decline of intelligence in Britain, studies using Multivariate Abstract Variance Analysis, and other miscellaneous studies on personality factors and mental…

  12. Gastrointestinal Symptoms among African Americans Undergoing Hemodialysis.

    PubMed

    Daniels, Glenda; Robinson, Janie R; Walker, Charles; Pennings, Jacquelyn S; Anderson, Staci T

    2015-01-01

    The incidence of end stage renal disease is more than three times higher in African Americans. Treatment regimens contribute to gastrointestinal (GI) complaints. This study's purpose was to examine the incidence of GI symptoms in African-American patients undergoing hemodialysis. Younger participants were more likely to report mild indigestion, while older participants reported severe indigestion or none at all. Females were more likely to report gastrointestinal symptoms. Commonly reported co-morbidities included hypertension, diabetes, and heart disease. Time on hemodialysis ranged from 1 to 279 months. Those who had been on hemodialysis the longest were more likely to report acid reflux, stomach rumbling and mild diarrhea. This study provides a foundation for early identification of GI symptoms in African-Americans patients undergoing hemodialysis.

  13. Early ABRs in infants undergoing assisted ventilation.

    PubMed

    Cox, L C; Martin, R J; Carlo, W A; Hack, M

    1993-01-01

    ABR was performed on 42 preterm infants undergoing assisted ventilation with conventional or high-frequency oscillatory ventilation (HFOV). ABRs from these very young neonates were evaluated to further detail the emerging response and to determine if type of ventilation or other perinatal factors had effects on the ABR. While responses were present down to 26 weeks gestational age, the only factors which appeared related to absent ABRs were birthweight and gestational age.

  14. Genetic Manipulation of Neisseria gonorrhoeae.

    PubMed

    Dillard, Joseph P

    2011-11-01

    The sexually transmitted pathogen, Neisseria gonorrhoeae, undergoes natural transformation at high frequency. This property has led to the rapid dissemination of antibiotic resistance markers and to the panmictic structure of the gonococcal population. However, high-frequency transformation also makes N. gonorrhoeae one of the easiest bacterial species to manipulate genetically in the laboratory. Techniques have been developed that result in transformation frequencies >50%, allowing the identification of mutants by screening and without selection. Constructs have been created to take advantage of this high-frequency transformation, facilitating genetic mutation, complementation, and heterologous gene expression. Techniques are described for genetic manipulation of N. gonorrhoeae, as well as for growth of this fastidious organism.

  15. Genetic manipulation of Neisseria gonorrhoeae.

    PubMed

    Dillard, Joseph P

    2006-01-01

    The sexually-transmitted pathogen, Neisseria gonorrhoeae, undergoes natural transformation at high frequency. This property has led to the rapid dissemination of antibiotic resistance markers and to the panmictic structure of the gonococcal population. However, high frequency transformation also makes N. gonorrhoeae one of the easiest bacterial species to manipulate genetically in the laboratory. Techniques have been developed that result in transformation frequencies >50%, allowing the identification of mutants by screening and without selection. Constructs have been created to take advantage of this high frequency transformation, facilitating genetic mutation, complementation, and heterologous gene expression. Techniques are described for genetic manipulation of N. gonorrhoeae, as well as for growth of this fastidious organism.

  16. Personality Orientation.

    ERIC Educational Resources Information Center

    Neimark, Maria

    This book describes years of research on behavior motivation conducted to provide a deeper understanding of the personality of the Soviet adolescent. The studies experimentally explore the motive hierarchy, the relationships among motives that directly stimulate behavior, conscious goals, decisions and intentions. The system of stably dominant…

  17. Personality Measurement and Assessment in Large Panel Surveys*

    PubMed Central

    Roberts, Brent; Jackson, Joshua J.; Duckworth, Angela L.; Von Culin, Katherine

    2013-01-01

    Personality tests are being added to large panel studies with increasing regularity, such as the Health and Retirement Study (HRS). To facilitate the inclusion and interpretation of these tests, we provide some general background on personality psychology, personality assessment, and the validity of personality tests. In this review, we provide background on definitions of personality, the strengths and weaknesses of the self-report approaches to personality testing typically used in large panel studies, and the validity of personality tests for three outcomes: genetics, income, and health. We conclude with recommendations on how to improve personality assessment in future panel studies. PMID:23503719

  18. The genetics of the epilepsies.

    PubMed

    El Achkar, Christelle M; Olson, Heather E; Poduri, Annapurna; Pearl, Phillip L

    2015-07-01

    While genetic causes of epilepsy have been hypothesized from the time of Hippocrates, the advent of new genetic technologies has played a tremendous role in elucidating a growing number of specific genetic causes for the epilepsies. This progress has contributed vastly to our recognition of the epilepsies as a diverse group of disorders, the genetic mechanisms of which are heterogeneous. Genotype-phenotype correlation, however, is not always clear. Nonetheless, the developments in genetic diagnosis raise the promise of a future of personalized medicine. Multiple genetic tests are now available, but there is no one test for all possible genetic mutations, and the balance between cost and benefit must be weighed. A genetic diagnosis, however, can provide valuable information regarding comorbidities, prognosis, and even treatment, as well as allow for genetic counseling. In this review, we will discuss the genetic mechanisms of the epilepsies as well as the specifics of particular genetic epilepsy syndromes. We will include an overview of the available genetic testing methods, the application of clinical knowledge into the selection of genetic testing, genotype-phenotype correlations of epileptic disorders, and therapeutic advances as well as a discussion of the importance of genetic counseling. PMID:26008807

  19. Person-to-Person Transmission of Andes Virus

    PubMed Central

    Bellomo, Carla; San Juan, Jorge; Pinna, Diego; Forlenza, Raul; Elder, Malco; Padula, Paula J.

    2005-01-01

    Despite the fact that rodents are considered to be the infectious source of hantavirus for humans, another route of transmission was demonstrated. Andes virus (ANDV) has been responsible for most of the cases recorded in Argentina. Person-to-person transmission of ANDV Sout lineage was described during an outbreak of hantavirus pulmonary syndrome in southwest Argentina. In this study, we analyzed 4 clusters that occurred in 2 disease-endemic areas for different ANDV lineages. We found new evidence of interhuman transmission for ANDV Sout lineage and described the first event in which another lineage, ANDV Cent BsAs, was implicated in this mechanism of transmission. On the basis of epidemiologic and genetic data, we concluded that person-to-person spread of the virus likely took place during the prodromal phase or shortly after it ended, since close and prolonged contact occurred in the events analyzed here, and the incubation period was 15–24 days. PMID:16485469

  20. Person Perception and Personality Pathology

    PubMed Central

    Oltmanns, Thomas F.; Turkheimer, Eric

    2010-01-01

    Studies of person perception (people's impressions and beliefs about others) have developed important concepts and methods that can be used to help improve the assessment of personality disorders. They may also inspire advances in our knowledge of the nature and origins of these conditions. Information collected from peers and other types of informants is reliable and provides a perspective that often differs substantially from that obtained using questionnaires and interviews. For some purposes, this information is quite useful. Much remains to be learned about the incremental validity (and potential biases) associated with data from various kinds of informants. PMID:20539833

  1. [A genetic ID for tomorrow?].

    PubMed

    Perbal, Laurence

    2015-01-01

    Dozens of private companies have emerged in 2005, with the commercial purpose of offering the public a wide variety of personal genetic tests - direct-to-consumer personal genome tests. Simultaneously, a collaborative research initiative on individual sequencing - the Personal Genome Project - was born in Harvard University, then online. This text provides an analysis of the promises and limits of the proposed individual sequencing. First, the scope and quality of individual predictive genetic sequencing are still far from being acquired. Moreover, it is necessary to question the ethical standards of confidentiality and respect for privacy in the connected information era.

  2. 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.

  3. Genetic algorithms

    NASA Technical Reports Server (NTRS)

    Wang, Lui; Bayer, Steven E.

    1991-01-01

    Genetic algorithms are mathematical, highly parallel, adaptive search procedures (i.e., problem solving methods) based loosely on the processes of natural genetics and Darwinian survival of the fittest. Basic genetic algorithms concepts are introduced, genetic algorithm applications are introduced, and results are presented from a project to develop a software tool that will enable the widespread use of genetic algorithm technology.

  4. Political attitudes develop independently of personality traits.

    PubMed

    Hatemi, Peter K; Verhulst, Brad

    2015-01-01

    The primary assumption within the recent personality and political orientations literature is that personality traits cause people to develop political attitudes. In contrast, research relying on traditional psychological and developmental theories suggests the relationship between most personality dimensions and political orientations are either not significant or weak. Research from behavioral genetics suggests the covariance between personality and political preferences is not causal, but due to a common, latent genetic factor that mutually influences both. The contradictory assumptions and findings from these research streams have yet to be resolved. This is in part due to the reliance on cross-sectional data and the lack of longitudinal genetically informative data. Here, using two independent longitudinal genetically informative samples, we examine the joint development of personality traits and attitude dimensions to explore the underlying causal mechanisms that drive the relationship between these features and provide a first step in resolving the causal question. We find change in personality over a ten-year period does not predict change in political attitudes, which does not support a causal relationship between personality traits and political attitudes as is frequently assumed. Rather, political attitudes are often more stable than the key personality traits assumed to be predicting them. Finally, the results from our genetic models find that no additional variance is accounted for by the causal pathway from personality traits to political attitudes. Our findings remain consistent with the original construction of the five-factor model of personality and developmental theories on attitude formation, but challenge recent work in this area. PMID:25734580

  5. Political Attitudes Develop Independently of Personality Traits

    PubMed Central

    Hatemi, Peter K.; Verhulst, Brad

    2015-01-01

    The primary assumption within the recent personality and political orientations literature is that personality traits cause people to develop political attitudes. In contrast, research relying on traditional psychological and developmental theories suggests the relationship between most personality dimensions and political orientations are either not significant or weak. Research from behavioral genetics suggests the covariance between personality and political preferences is not causal, but due to a common, latent genetic factor that mutually influences both. The contradictory assumptions and findings from these research streams have yet to be resolved. This is in part due to the reliance on cross-sectional data and the lack of longitudinal genetically informative data. Here, using two independent longitudinal genetically informative samples, we examine the joint development of personality traits and attitude dimensions to explore the underlying causal mechanisms that drive the relationship between these features and provide a first step in resolving the causal question. We find change in personality over a ten-year period does not predict change in political attitudes, which does not support a causal relationship between personality traits and political attitudes as is frequently assumed. Rather, political attitudes are often more stable than the key personality traits assumed to be predicting them. Finally, the results from our genetic models find that no additional variance is accounted for by the causal pathway from personality traits to political attitudes. Our findings remain consistent with the original construction of the five-factor model of personality and developmental theories on attitude formation, but challenge recent work in this area. PMID:25734580

  6. Political attitudes develop independently of personality traits.

    PubMed

    Hatemi, Peter K; Verhulst, Brad

    2015-01-01

    The primary assumption within the recent personality and political orientations literature is that personality traits cause people to develop political attitudes. In contrast, research relying on traditional psychological and developmental theories suggests the relationship between most personality dimensions and political orientations are either not significant or weak. Research from behavioral genetics suggests the covariance between personality and political preferences is not causal, but due to a common, latent genetic factor that mutually influences both. The contradictory assumptions and findings from these research streams have yet to be resolved. This is in part due to the reliance on cross-sectional data and the lack of longitudinal genetically informative data. Here, using two independent longitudinal genetically informative samples, we examine the joint development of personality traits and attitude dimensions to explore the underlying causal mechanisms that drive the relationship between these features and provide a first step in resolving the causal question. We find change in personality over a ten-year period does not predict change in political attitudes, which does not support a causal relationship between personality traits and political attitudes as is frequently assumed. Rather, political attitudes are often more stable than the key personality traits assumed to be predicting them. Finally, the results from our genetic models find that no additional variance is accounted for by the causal pathway from personality traits to political attitudes. Our findings remain consistent with the original construction of the five-factor model of personality and developmental theories on attitude formation, but challenge recent work in this area.

  7. [Dis-social personality disorder].

    PubMed

    Habermeyer, E; Herpertz, S C

    2006-05-01

    Deviant behavior is gaining in clinical importance if it is founded on stable, characteristic, and enduring patterns of psychopathologically relevant personality traits which have their onset in childhood or adolescence. The classification of these traits shows variations, so that a distinction between the ICD-10 diagnosis of dis-social personality disorder, DSM-IV diagnosis of antisocial personality disorder, and the concept "psychopathy" is necessary. Our knowledge about the biological basis of antisocial behavior includes neurophysiologic, psychophysiologic, and genetic findings. Also relevant are results of neurotransmitter studies and structural resp. functional neuroimaging findings. Psychosocial risk factors include parental deficits, rejection, disregard, unstable relations, and abuse. Efficient psychotherapeutic treatment is cognitive-behavioral. Pharmacologic treatment is largely "off-label". The diagnosis of antisocial and dis-social personality disorders allows no conclusions on criminal responsibility. In addition to psychiatric diagnostics, considerations on the severity of the disorder and its effects on the ability to inhibit actions are necessary.

  8. Personal Beacon

    NASA Technical Reports Server (NTRS)

    2000-01-01

    The MicroPLB (personal locator beacon) is a search and rescue satellite-aided tracking (SARSAT) transmitter. When activated it emits a distress signal to a constellation of internationally operated satellites. The endangered person's identity and location anywhere on Earth is automatically forwarded to central monitoring stations around the world. It is accurate to within just a few meters. The user uses the device to download navigation data from a global positioning satellite receiver. After the download is complete, the MicroPLB functions as a self-locating beacon. Also, it is the only PLB to use a safe battery. In the past, other PLB devices have used batteries that have enough volatility to explode with extreme force. It was developed by Microwave Monolithic, Inc. through SBIR funding from Glenn Research Center and Goddard Space Flight Center.

  9. Mechanisms shaping the development of personality and personality disorders in children and adolescents.

    PubMed

    Lenkiewicz, Kamila; Srebnicki, Tomasz; Bryńska, Anita

    2016-01-01

    Until the end of the nineties last century personality disorders could not be diagnosed before the age of eighteen. Nevertheless, the results of studies published in the last decade have revealed that personality disorders can be observed in children and adolescents and that personality disorders diagnosed in adult patients had been present as early as in childhood. The knowledge of possible mechanisms shaping personality disorders in childhood is unsatisfactory and needs to be expanded. Developmental psychology explains the development of abnormal personality through inappropriate attachment patterns and abnormal transitions between developmental phases. Genetic and temperamental factors are also important in the aetiology of personality disorders as well as early maladaptive schemas resulting from personal experiences and interactions with others. The aim of this article is to review the current knowledge on the mechanisms shaping the development of personality and personality disorders in childhood and adolescence. PMID:27556119

  10. Toward a molecular architecture of personality.

    PubMed

    Reif, Andreas; Lesch, Klaus-Peter

    2003-02-17

    Epidemiological studies provided a large body of evidence that personality dimensions are influenced by genetic factors and that the genetic component is highly complex, polygenic, and epistatic. However, consistent findings on the genetic basis of personality have yet remained sparse. In recent years, molecular genetics has begun to identify specific genes coding in particular for components of the serotonergic and dopaminergic neurotransmitter systems representing quantitative trait loci (QTLs) for behavioral traits. The QTL concept suggests that complex traits are not attributable to single genes. According to this polygenic model, the genetic basis of personality and behavior and its pathological variations thus results from additive or nonadditive interactions of various genes. As the number of suitable candidate genes constantly increases, the QTL model provides a reasonable explanation for the genetic basis of personality and its disorders. In this review, the current knowledge on the impact of a large number of candidate gene polymorphisms (e.g. variations in serotonin and dopamine receptor and serotonin transporter genes) on personality and temperament is summarized. Additionally, investigations of gene-gene and gene-environment interactions in humans and animals, which currently intensify the identification of genes that underlie behavioral variations, are examined. The findings converge on the notion that a probabilistic rather than deterministic impact of genes on the expression of behavior will contribute to the demystification of behavioral disorders.

  11. Personal view:

    PubMed

    Black, Dora

    1985-12-14

    The author, a child psychiatrist, comments briefly about an incident of unauthorized disclosure to a lawyer of a psychiatrist's evaluation of a troubled family. She notes that the event has implications for medical ethics as well as for the persons involved. Doctors who breach confidentiality by disclosing a consultant's report risk that the consultant will water down or substantially modify written opinions lest the reports be read by the patients or others not intended to see them.

  12. New Genetics

    MedlinePlus

    ... human genome, behavioral genetics, pharmacogenetics, drug resistance, biofilms, computer modeling. » more Chapter 5: 21st-Century Genetics Covers systems biology, GFP, genetic testing, privacy concerns, DNA forensics, ...

  13. Genetic Counseling

    MedlinePlus

    Genetic counseling provides information and support to people who have, or may be at risk for, genetic disorders. A ... meets with you to discuss genetic risks. The counseling may be for yourself or a family member. ...

  14. 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 ...

  15. Oral surgery in patients undergoing chemoradiation therapy.

    PubMed

    Demian, Nagi M; Shum, Jonathan W; Kessel, Ivan L; Eid, Ahmed

    2014-05-01

    Oral health care in patients undergoing chemotherapy and/or radiation therapy can be complex. Care delivered by a multidisciplinary approach is timely and streamlines the allocation of resources to provide prompt care and to attain favorable outcomes. A hospital dentist, oral and maxillofacial surgeon, and a maxillofacial prosthodontist must be involved early to prevent avoidable oral complications. Prevention and thorough preparation are vital before the start of chemotherapy and radiation therapy. Oral complications must be addressed immediately and, even with the best management, can cause delays and interruption in treatment, with serious consequences for the outcome and prognosis.

  16. Viscoelastic behavior of polymers undergoing crosslinking reactions.

    NASA Technical Reports Server (NTRS)

    Moacanin, J.; Aklonis, J. J.

    1971-01-01

    Previously a method was developed for predicting the viscoelastic response of polymers undergoing scission reactions. These results are now extended to include crosslinking reactions. As for scission, at any given time the character of the network chains is determined by the instantaneous crosslink density. For scission all chains were assumed to carry the same stress; for crosslinking, however, the stress is distributed between the 'new' and 'old' chains. Equations for calculating the creep response of a system which experiences a step increase in crosslink density are derived.

  17. Oral surgery in patients undergoing chemoradiation therapy.

    PubMed

    Demian, Nagi M; Shum, Jonathan W; Kessel, Ivan L; Eid, Ahmed

    2014-05-01

    Oral health care in patients undergoing chemotherapy and/or radiation therapy can be complex. Care delivered by a multidisciplinary approach is timely and streamlines the allocation of resources to provide prompt care and to attain favorable outcomes. A hospital dentist, oral and maxillofacial surgeon, and a maxillofacial prosthodontist must be involved early to prevent avoidable oral complications. Prevention and thorough preparation are vital before the start of chemotherapy and radiation therapy. Oral complications must be addressed immediately and, even with the best management, can cause delays and interruption in treatment, with serious consequences for the outcome and prognosis. PMID:24794266

  18. Schizotypal personality disorder.

    PubMed

    Chemerinski, Eran; Triebwasser, Joseph; Roussos, Panos; Siever, Larry J

    2013-10-01

    Early phenomenological descriptions of schizophrenia have acknowledged the existence of milder schizophrenia spectrum disorders characterized by the presence of attenuated symptoms typically present in chronic schizophrenia. The investigation of the schizophrenia spectrum disorders offers an opportunity to elucidate the pathophysiological mechanisms giving rise to schizophrenia. Differences and similarities between subjects with schizotypal personality disorder (SPD), the prototypical schizophrenia personality disorder, and chronic schizophrenia have been investigated with genetic, neurochemical, imaging, and pharmacological techniques. Patients with SPD and the more severely ill patients with chronic schizophrenia share cognitive, social, and attentional deficits hypothesized to result from common neurodevelopmentally based cortical temporal and prefrontal pathology. However, these deficits are milder in SPD patients due to their capacity to recruit other related brain regions to compensate for dysfunctional areas. Individuals with SPD are also less vulnerable to psychosis due to the presence of protective factors mitigating subcortical DA hyperactivity. Given the documented close relationship to other schizophrenic disorders, SPD will be included in the psychosis section of DSM-5 as a schizophrenia spectrum disorder as well as in the personality disorder section.

  19. Spatial learning in men undergoing alcohol detoxification.

    PubMed

    Ceccanti, Mauro; Hamilton, Derek; Coriale, Giovanna; Carito, Valentina; Aloe, Luigi; Chaldakov, George; Romeo, Marina; Ceccanti, Marco; Iannitelli, Angela; Fiore, Marco

    2015-10-01

    Alcohol dependence is a major public health problem worldwide. Brain and behavioral disruptions including changes in cognitive abilities are common features of alcohol addiction. Thus, the present study was aimed to investigate spatial learning and memory in 29 alcoholic men undergoing alcohol detoxification by using a virtual Morris maze task. As age-matched controls we recruited 29 men among occasional drinkers without history of alcohol dependence and/or alcohol related diseases and with a negative blood alcohol level at the time of testing. We found that the responses to the virtual Morris maze are impaired in men undergoing alcohol detoxification. Notably they showed increased latencies in the first movement during the trials, increased latencies in retrieving the hidden platform and increased latencies in reaching the visible platform. These findings were associated with reduced swimming time in the target quadrant of the pool where the platform had been during the 4 hidden platform trials of the learning phase compared to controls. Such increasing latency responses may suggest motor control, attentional and motivational deficits due to alcohol detoxification. PMID:26143187

  20. [Protective management for genetic information].

    PubMed

    Niikawa, Norio

    2005-03-01

    With advances in genomic and genetic medicine, genomic information is being used for the management of disorders. In addition, personalized medicine will be in practice in the near future. Because genetic information, i.e., disease diagnosis, gene mutations, and/or nucleotide sequences, remains unchanged through an individual's life, there are important issues for discussion, such as informed consent at sampling, protection of an individual's genetic information from any social discrimination, handling of samples, and genetic counseling. In this review, how to protect and manage the genetic information at researching and at medical practice, together with several bioethical guidelines regarding such issues, are described. A triangle system in which sample donators, directing physicians/researchers and genetic counselors participate, to manage genetic information appropriately, is also proposed.

  1. Longitudinal Interviews of Couples Diagnosed with Diminished Ovarian Reserve Undergoing Fragile X Premutation Testing

    PubMed Central

    Pastore, Lisa M; Karns, Logan B; Ventura, Karen; Clark, Myra L.; Steeves, Richard H.; Callanan, Nancy

    2013-01-01

    About 10% of infertile/subfertile women are diagnosed with diminished ovarian reserve (DOR), of which < 5% will become pregnant spontaneously. Fragile X (FMR1) genetic testing may provide a reason for her early ovarian aging and/or have reproductive implications. Seven women with DOR (genetic study subset) and the male partners of six of these women were separately interviewed about the experience of being asked to undergo this unanticipated genetic test. Three interviews were conducted (before, within 1 week after, and 3 months after learning the test results). None of the participants carried the FMR1 premutation (largest FMR1 allele 27–50 CGG repeats).For women, their pregnancy-seeking journey was long and exhausting. Women understood the reproductive implications of carrying the FMR1 premutation, and hoped for a negative result. Being offered a genetic test caused women to pause and re-think their future reproductive plans. Husbands viewed the infertility journey as filled with unknowns, of which the genetic test results would be one more puzzle piece. The expense of fertility testing/treatment was mentioned by both spouses, though more notably by husbands. The introduction of a possible genetic cause of infertility, with additional potential health consequences for future biological children, caused women to re-think their quest for pregnancy. In contrast, the genetic test was viewed as an additional source of information for their husbands as opposed to raising concern regarding potential reproductive ramifications. PMID:23764957

  2. Genomes, Populations and Diseases: Ethnic Genomics and Personalized Medicine

    PubMed Central

    Stepanov, V.A.

    2010-01-01

    This review discusses the progress of ethnic genetics, the genetics of common diseases, and the concepts of personalized medicine. We show the relationship between the structure of genetic diversity in human populations and the varying frequencies of Mendelian and multifactor diseases. We also examine the population basis of pharmacogenetics and evaluate the effectiveness of pharmacotherapy, along with a review of new achievements and prospects in personalized genomics. PMID:22649660

  3. Behavioural genetics and temperament.

    PubMed

    Plomin, R

    1982-01-01

    Three recent developments in behavioural genetics are relevant to temperament research. First, the search for genetic influences on temperament has been frustrated by the finding that twin studies using self-report and parental rating instruments detect a genetic influence for all personality traits whereas twin studies using objective assessments rarely find a genetic influence. Secondly, environmental influences salient to temperament appear to operate in such a way as to make members of a family (siblings, for example) as different from one another as are individuals in different families. The importance of such 'E1', or non-shared, environmental influences suggests the need for studies of more than one child per family. Thirdly, adoption studies are needed to complement the extensive research on temperament in twins. In addition to its usefulness in isolating genetic influences, the adoption design can study environmental influence devoid of the confounding effects of hereditary influences; it can also isolate interactions between genotypes and environments. Preliminary results from the Colorado Adoption Project show little relationship between the temperaments of adopted and non-adopted one-year-olds and the personality characteristics of thier parents. Measures of the home and family environment did not relate to infant temperament, and no genotype-environment interaction was detected.

  4. Personality: Is It a Product of Nature, Nurture, and/or Personal Choice?

    ERIC Educational Resources Information Center

    Parish, Thomas S.; Barness, Ryan

    2009-01-01

    Are we creatures of nature, nurture, and/or personal choice? The answer to this question, of course, is "yes." This brief report, however, will offer some insights regarding what might happen genetically and environmentally that could impact our personalities, and then we'll consider some of the many options each of us might have to take upon…

  5. Bubble dynamics in perfused tissue undergoing decompression.

    PubMed

    Meisel, S; Nir, A; Kerem, D

    1981-02-01

    A mathematical model describing bubble dynamics in a perfused tissue undergoing decompression is presented, taking into account physical expansion and inward diffusion from surrounding supersaturated tissue as growth promoting factors and tissue gas elimination by perfusion, tissue elasticity, surface tension and inherent unsaturation as resolving driving forces. The expected behavior after a step reduction of pressure of a bubble initially existing in the tissue, displaying both growth and resolution has been demonstrated. A strong perfusion-dependence of bubble resolution time at low perfusion rates is apparent. The model can account for various exposure pressures and saturation fractions of any inert gas-tissue combination for which a set of physical and physiological parameters is available.

  6. Nutrition assessment in patients undergoing liver transplant

    PubMed Central

    Bakshi, Neha; Singh, Kalyani

    2014-01-01

    Liver transplantation (LT) is a major surgery performed on patients with end stage liver disease. Nutrition is an integral part of patient care, and protein-energy malnutrition is almost universally present in patients suffering from liver disease undergoing LT. Nutrition assessment of preliver transplant phase helps to make a good nutrition care plan for the patients. Nutrition status has been associated with various factors which are related to the success of liver transplant such as morbidity, mortality, and length of hospital stay. To assess the nutritional status of preliver transplant patients, combinations of nutrition assessment methods should be used like subjective global assessment, Anthropometry mid arm-muscle circumference, Bioelectrical impedance analysis (BIA) and handgrip strength. PMID:25316978

  7. Coping styles and personality: a biometric analysis.

    PubMed

    Jang, Kerry L; Thordarson, Dana S; Stein, Murray B; Cohan, Sharon L; Taylor, Steven

    2007-03-01

    Previous research suggests that coping styles are modestly heritable and that this genetic influence is shared in large part with genetic influences on personality. To test this hypothesis, we estimated the heritable basis of the Coping Inventory for Stressful Situations in a sample of 91 monozygotic and 80 dizygotic twin pairs. Task-oriented, emotion-oriented, and social diversion coping styles were modestly heritable (h(2)=.17 to .20), whereas the use of distraction appeared to be influenced solely by environmental factors. Multivariate analyses showed that genetic contributions to coping styles were, at best, only modestly related to genetic contributions to personality (r=-.03 to .35). Environmental contributions to personality were unrelated to environmental factors in coping style. These results suggest that coping style is not merely a manifestation of basic personality traits but does support the possibility that the genetic factors in personality influences have a modest influence on an individual's preferred coping style or strength (e.g., rigidity vs flexibility).

  8. INTESTINAL MALROTATION IN PATIENTS UNDERGOING BARIATRIC SURGERY

    PubMed Central

    VIDAL, Eduardo Arevalo; RENDON, Francisco Abarca; ZAMBRANO, Trino Andrade; GARCÍA, Yudoco Andrade; VITERI, Mario Ferrin; CAMPOS, Josemberg Marins; RAMOS, Manoela Galvão; RAMOS, Almino Cardoso

    2016-01-01

    ABSTRACT Background: Intestinal malrotation is a rare congenital anomaly. In adults is very difficult to recognize due to the lack of symptoms. Diagnosis is usually incidental during surgical procedures or at autopsy. Aim: To review the occurrence and recognition of uneventful intestinal malrotation discovered during regular cases of bariatric surgeries. Methods: Were retrospectively reviewed the medical registry of 20,000 cases undergoing bariatric surgery, from January 2002 to January 2016, looking for the occurrence of intestinal malrotation and consequences in the intraoperative technique and immediate evolution of the patients. Results: Five cases (0,025%) of intestinal malrotation were found. All of them were males, aging 45, 49, 37,52 and 39 years; BMI 35, 42, 49, 47 and 52 kg/m2, all of them with a past medical history of morbid obesity. The patient with BMI 35 kg/m2 suffered from type 2 diabetes also. All procedures were completed by laparoscopic approach, with no conversions. In one patient was not possible to move the jejunum to the upper abdomen in order to establish the gastrojejunostomy and a sleeve gastrectomy was performed. In another patient was not possible to fully recognize the anatomy due to bowel adhesions and a single anastomosis gastric bypass was preferred. No leaks or bleeding were identified. There were no perioperative complications. All patients were discharged 72 h after the procedure and no immediate 30-day complications were reported. Conclusion: Patients with malrotation can successfully undergo laparoscopic bariatric surgery. May be necessary changes in the surgical original strategy regarding the malrotation. Surgeons must check full abdominal anatomical condition prior to start the division of the stomach. PMID:27683770

  9. Borderline Personality

    PubMed Central

    Sansone, Randy A.; Sansone, Lori A.

    2004-01-01

    BORDERLINE PERSONALITY DISORDER (BPD) IS A COMPLEX AXIS II Phenomenon that is typically described in a psychological or psychiatric context. In this article, we translate the various aspects of BPD to the primary care setting. Previous work in this area has explored specific relationships between BPD and individual medical disorders or between BPD and general somatic symptoms, but the synthesis of these findings and their augmentation with cogent psychological theory is new to the field. Specifically, we highlight the prevalence rate of BPD in the primary care setting, the effects on healthcare utilization, the themes of somatic preoccupation and somatization disorder, several medical syndromes that illustrate the dynamics of the disorder in the medical setting, and the relationship of BPD to disability. We believe that the BPD concept needs to extend beyond its traditional psychological/psychiatric borders to include the subset of BPD patients with somatic symptoms who are seen in primary care settings. PMID:21197375

  10. Pharmacogenetics and personal genomes

    PubMed Central

    Wagner, Michael J

    2010-01-01

    While pharmacogenetics - the correlation of genotype and response to medicines - currently has a small but measurable impact on the prescribing practice of clinicians, the advent of the `personal genome' is likely to change this significantly. Advances in high-throughput technologies aimed at characterizing human genetic variation, including chip-based genotyping and next-generation sequencing, are poised to provide a flood of information that will affect both pharmacogenetic discovery and pharmacogenetic application in clinical practice. In order for this flood of information to not overwhelm both researchers and clinicians alike, a variety of new and expanded information management tools will be needed, including electronic medical records, bioinformatic algorithms for analyzing sequence data, information management systems for storing, retrieving and interpreting whole-genome sequence data, and pharmacogenetic decision tools for prescribers. PMID:20190862

  11. [Borderline personality disorder].

    PubMed

    Machizawa, S

    1994-05-01

    Although Borderline Personality Disorder (BPD) overlaps considerably with Major Depression, recent studies of biology, genetics and childhood trauma have demonstrated that there are substantial differences between the two disorders. It is suggested that their apparent relationship is rather nonspecific. In this paper, the author emphasizes that the core symptom of BPD is impulsiveness, which causes depressive symptoms and/or is induced by depressive episodes, forming a vicious cycle. Furthermore, in BPD patients, depressive symptoms are modified by impulsiveness, masochism, vanity, despair, and difficulties in interpersonal relationships. The author concludes that BPD is not a homogeneous but heterogeneous syndrome, classified into subtypes: depressive type, impulsive type, and identity diffusion type. Treatment needs to be considered according to these types.

  12. A tiered-layered-staged model for informed consent in personal genome testing.

    PubMed

    Bunnik, Eline M; Janssens, A Cecile J W; Schermer, Maartje H N

    2013-06-01

    In recent years, developments in genomics technologies have led to the rise of commercial personal genome testing (PGT): broad genome-wide testing for multiple diseases simultaneously. While some commercial providers require physicians to order a personal genome test, others can be accessed directly. All providers advertise directly to consumers and offer genetic risk information about dozens of diseases in one single purchase. The quantity and the complexity of risk information pose challenges to adequate pre-test and post-test information provision and informed consent. There are currently no guidelines for what should constitute informed consent in PGT or how adequate informed consent can be achieved. In this paper, we propose a tiered-layered-staged model for informed consent. First, the proposed model is tiered as it offers choices between categories of diseases that are associated with distinct ethical, personal or societal issues. Second, the model distinguishes layers of information with a first layer offering minimal, indispensable information that is material to all consumers, and additional layers offering more detailed information made available upon request. Finally, the model stages informed consent as a process by feeding information to consumers in each subsequent stage of the process of undergoing a test, and by accommodating renewed consent for test result updates, resulting from the ongoing development of the science underlying PGT. A tiered-layered-staged model for informed consent with a focus on the consumer perspective can help overcome the ethical problems of information provision and informed consent in direct-to-consumer PGT.

  13. Comparing genetic counselor’s and patient’s perceptions of needs in prenatal chromosomal microarray testing

    PubMed Central

    Walser, Sarah A.; Kellom, Katherine S.; Palmer, Steven C.; Bernhardt, Barbara A.

    2015-01-01

    OBJECTIVE Chromosome microarray analysis (CMA) is poised to take a significant place in the prenatal setting given its increased yield over standard karyotyping, but concerns regarding ethical and counseling challenges remain, especially associated with the risk of uncertain and incidental findings. Guidelines recommend patients receiving prenatal screening undergo genetic counseling prior to testing, but little is known about women’s specific pre- and post-testing informational needs, as well as their preference for return of various types of results. METHODS The present study surveys 199 prenatal genetic counselors who have counseled patients undergoing CMA testing and 152 women who have undergone testing on the importance of understanding pre-test information, return of various types of results, and resources made available following an abnormal finding. RESULTS Counselors and patients agree on many aspects, although findings indicate patients consider all available information very important, while genetic counselors give more varying ratings. CONCLUSION Counseling sessions would benefit from information personalized to a patient’s particular needs and a shared decision-making model, so as to reduce informational overload and avoid unnecessary anxiety. Additionally, policies regarding the return of various types of results are needed. PMID:25995037

  14. 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

  15. 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.

  16. Is personalized medicine achievable in obstetrics?

    PubMed

    Quinney, Sara K; Patil, Avinash S; Flockhart, David A

    2014-12-01

    Personalized medicine seeks to identify the right dose of the right drug for the right patient at the right time. Typically, individualization of therapy is based on the pharmacogenomic makeup of the individual and environmental factors that alter drug disposition and response. In addition to these factors, during pregnancy, a woman's body undergoes many changes that can impact the therapeutic efficacy of medications. Yet, there is minimal research regarding personalized medicine in obstetrics. Adoption of pharmacogenetic testing into the obstetrical care is dependent on evidence of analytical validity, clinical validity, and clinical utility. Here, we briefly present information regarding the potential utility of personalized medicine for treating the obstetric patient for pain with narcotics, hypertension, and preterm labor, and discuss the impediments of bringing personalized medicine to the obstetrical clinic. PMID:25282474

  17. Is Personalized Medicine Achievable in Obstetrics?

    PubMed Central

    Quinney, Sara K; Flockhart, David A; Patil, Avinash S

    2014-01-01

    Personalized medicine seeks to identify the right dose of the right drug for the right patient at the right time. Typically, individualization of therapy is based on the pharmacogenomic make-up of the individual and environmental factors that alter drug disposition and response. In addition to these factors, during pregnancy a woman’s body undergoes many changes that can impact the therapeutic efficacy of medications. Yet, there is minimal research regarding personalized medicine in obstetrics. Adoption of pharmacogenetic testing into the obstetrical care is dependent on evidence of analytical validity, clinical validity, and clinical utility. Here, we briefly present information regarding the potential utility of personalized medicine for treating the obstetric patient for pain with narcotics, hypertension, and preterm labor and discuss the impediments of bringing personalized medicine to the obstetrical clinic. PMID:25282474

  18. Is personalized medicine achievable in obstetrics?

    PubMed

    Quinney, Sara K; Patil, Avinash S; Flockhart, David A

    2014-12-01

    Personalized medicine seeks to identify the right dose of the right drug for the right patient at the right time. Typically, individualization of therapy is based on the pharmacogenomic makeup of the individual and environmental factors that alter drug disposition and response. In addition to these factors, during pregnancy, a woman's body undergoes many changes that can impact the therapeutic efficacy of medications. Yet, there is minimal research regarding personalized medicine in obstetrics. Adoption of pharmacogenetic testing into the obstetrical care is dependent on evidence of analytical validity, clinical validity, and clinical utility. Here, we briefly present information regarding the potential utility of personalized medicine for treating the obstetric patient for pain with narcotics, hypertension, and preterm labor, and discuss the impediments of bringing personalized medicine to the obstetrical clinic.

  19. Toward a biologically informed psychology of personality.

    PubMed

    Buss, D M

    1990-03-01

    This article describes nine ways in which biological approaches can inform issues of central and long-standing concern to personality psychologists. These include: (a) developing an adequate description of human nature, (b) providing several solutions to the puzzle of within-species genetic variability, (c) identifying the most important ways in which individuals differ, (d) giving precision to the concepts of adaptation and adjustment, (e) identifying the origins of personality dispositions, (f) providing insight into personality development and the life course, (g) providing conceptual and evidential standards for invoking personality types as opposed to personality dimensions, (h) addressing the psychophysiology of personality, and (i) focusing attention on psychological mechanisms as evolved dispositional strategies.

  20. Personalized Medicine: Monogenic Diabetes.

    PubMed

    Goulden, Peter A; Vengoechea, Jaime; McKelvey, Kent

    2015-09-01

    Personalized medicine in diabetes is a topic which has gained significant momentum in recent years (Raz et al. 2013). A rapid rise in the number and combinations of diabetes therapies coupled with an unprecedented rise in diabetes prevalence rates has necessitated diabetes guidelines which emphasize the need for personalized patient-centered care (ADA 2014). There are many questions regarding the role genetics may be able to play in guiding therapy. Recent pharmacogenetic research has revealed polymorphisms that may impact patient response to metformin (Dong et al 2011) and glucagon-like-polypeptide-1 therapies (Smushkin et al. 2012). This may hold promise for helping identify patients who will better respond to specific agents and in the longer-term may help ensure a smooth journey along the therapeutic pathway. Monogenic or "single-gene" diabetes comprises nearly 2% of all cases of type 2 diabetes and provides a model for individualizing care. This review will discuss the diagnosis and treatment of this condition.

  1. Personalized Medicine: Monogenic Diabetes.

    PubMed

    Goulden, Peter A; Vengoechea, Jaime; McKelvey, Kent

    2015-09-01

    Personalized medicine in diabetes is a topic which has gained significant momentum in recent years (Raz et al. 2013). A rapid rise in the number and combinations of diabetes therapies coupled with an unprecedented rise in diabetes prevalence rates has necessitated diabetes guidelines which emphasize the need for personalized patient-centered care (ADA 2014). There are many questions regarding the role genetics may be able to play in guiding therapy. Recent pharmacogenetic research has revealed polymorphisms that may impact patient response to metformin (Dong et al 2011) and glucagon-like-polypeptide-1 therapies (Smushkin et al. 2012). This may hold promise for helping identify patients who will better respond to specific agents and in the longer-term may help ensure a smooth journey along the therapeutic pathway. Monogenic or "single-gene" diabetes comprises nearly 2% of all cases of type 2 diabetes and provides a model for individualizing care. This review will discuss the diagnosis and treatment of this condition. PMID:26390534

  2. Genetic screening: marvel or menace?

    PubMed

    Rowley, P T

    1984-07-13

    Genetic screening is a systematic search in the population for persons of certain genotypes. The usual purpose is to detect persons who themselves or whose offspring are at risk for genetic diseases or genetically determined susceptibilities to environmental agents. Is genetic screening a marvel about to free us from the scourge of genetic disease or a menace about to invade our privacy and determine who may reproduce? There are three different types of genetic screening. Newborn screening identifies serious genetic disease at birth, permitting prompt treatment to prevent mental and physical retardation. Fetal screening and prenatal diagnosis identify genetic disease in the fetus permitting selective termination of pregnancy and the opportunity to have children free of defects detectable in utero. Carrier screening identifies individuals heterozygous for a gene for a serious recessive disease who may be at risk for affected offspring. The challenge to society is to provide (by way of cost-effective programs) expert services, including genetic counseling and follow-up, to all who may benefit, to ensure confidentiality and freedom of choice, and to avoid misunderstanding and stigmatization. It is recommended that the objective of screening programs should be to maximize the options available to families at risk rather than to reduce the incidence of genetic diseases. Whenever possible, the providers of these services should be the providers of primary health care. Urgently needed are a greater awareness of avoidable genetic diseases on the part of primary care providers and efforts to familiarize the public with the basic concepts of human genetics through the public school system.

  3. Genetic screening: marvel or menace?

    PubMed

    Rowley, P T

    1984-07-13

    Genetic screening is a systematic search in the population for persons of certain genotypes. The usual purpose is to detect persons who themselves or whose offspring are at risk for genetic diseases or genetically determined susceptibilities to environmental agents. Is genetic screening a marvel about to free us from the scourge of genetic disease or a menace about to invade our privacy and determine who may reproduce? There are three different types of genetic screening. Newborn screening identifies serious genetic disease at birth, permitting prompt treatment to prevent mental and physical retardation. Fetal screening and prenatal diagnosis identify genetic disease in the fetus permitting selective termination of pregnancy and the opportunity to have children free of defects detectable in utero. Carrier screening identifies individuals heterozygous for a gene for a serious recessive disease who may be at risk for affected offspring. The challenge to society is to provide (by way of cost-effective programs) expert services, including genetic counseling and follow-up, to all who may benefit, to ensure confidentiality and freedom of choice, and to avoid misunderstanding and stigmatization. It is recommended that the objective of screening programs should be to maximize the options available to families at risk rather than to reduce the incidence of genetic diseases. Whenever possible, the providers of these services should be the providers of primary health care. Urgently needed are a greater awareness of avoidable genetic diseases on the part of primary care providers and efforts to familiarize the public with the basic concepts of human genetics through the public school system. PMID:6729472

  4. Inducing Tropical Cyclones to Undergo Brownian Motion

    NASA Astrophysics Data System (ADS)

    Hodyss, D.; McLay, J.; Moskaitis, J.; Serra, E.

    2014-12-01

    Stochastic parameterization has become commonplace in numerical weather prediction (NWP) models used for probabilistic prediction. Here, a specific stochastic parameterization will be related to the theory of stochastic differential equations and shown to be affected strongly by the choice of stochastic calculus. From an NWP perspective our focus will be on ameliorating a common trait of the ensemble distributions of tropical cyclone (TC) tracks (or position), namely that they generally contain a bias and an underestimate of the variance. With this trait in mind we present a stochastic track variance inflation parameterization. This parameterization makes use of a properly constructed stochastic advection term that follows a TC and induces its position to undergo Brownian motion. A central characteristic of Brownian motion is that its variance increases with time, which allows for an effective inflation of an ensemble's TC track variance. Using this stochastic parameterization we present a comparison of the behavior of TCs from the perspective of the stochastic calculi of Itô and Stratonovich within an operational NWP model. The central difference between these two perspectives as pertains to TCs is shown to be properly predicted by the stochastic calculus and the Itô correction. In the cases presented here these differences will manifest as overly intense TCs, which, depending on the strength of the forcing, could lead to problems with numerical stability and physical realism.

  5. Casimir invariants for systems undergoing collective motion

    SciTech Connect

    Bishop, C. Allen; Byrd, Mark S.; Wu Lianao

    2011-06-15

    Dicke states are an important class of states which exhibit collective behavior in many-body systems. They are interesting because (1) the decay rates of these states can be quite different from a set of independently evolving particles and (2) a particular class of these states are decoherence-free or noiseless with respect to a set of errors. These noiseless states, or more generally subsystems, avoid certain types of errors in quantum-information-processing devices. Here we provide a method for determining a set of transformations of these states which leave the states in their subsystems but still enable them to evolve in particular ways. For subsystems of particles undergoing collective motions, these transformations can be calculated by using essentially the same construction which is used to determine the famous Casimir invariants for quantum systems. Such invariants can be used to determine a complete set of commuting observables for a class of Dicke states as well as to identify possible logical operations for decoherence-free-noiseless subsystems. Our method is quite general and provides results for cases where the constituent particles have more than two internal states.

  6. Constipation Risk in Patients Undergoing Abdominal Surgery

    PubMed Central

    Celik, Sevim; Atar, Nurdan Yalcin; Ozturk, Nilgun; Mendes, Guler; Kuytak, Figen; Bakar, Esra; Dalgiran, Duygu; Ergin, Sumeyra

    2015-01-01

    Background: Problems regarding bowel elimination are quite common in patients undergoing abdominal surgery. Objectives: To determine constipation risk before the surgery, bowel elimination during postoperative period, and the factors affecting bowel elimination. Patients and Methods: This is a cross-sectional study. It was conducted in a general surgery ward of a university hospital in Zonguldak, Turkey between January 2013 and May 2013. A total of 107 patients were included in the study, who were selected by convenience sampling. Constipation Risk Assessment Scale (CRAS), patient information form, medical and nursing records were used in the study. Results: The mean age of the patients was found to be 55.97 ± 15.74 (year). Most of the patients have undergone colon (37.4%) and stomach surgeries (21.5%). Open surgical intervention (83.2%) was performed on almost all patients (96.3%) under general anesthesia. Patients were at moderate risk for constipation with average scores of 11.71 before the surgery. A total of 77 patients (72%) did not have bowel elimination problem during postoperative period. The type of the surgery (P < 0.05), starting time for oral feeding after the surgery (P < 0.05), and mobilization (P < 0.05) were effective on postoperative bowel elimination. Conclusions: There is a risk for constipation after abdominal surgery. Postoperative practices are effective on the risk of constipation. PMID:26380107

  7. Mapping public policy on genetics.

    PubMed

    Weisfeld, N E

    2002-06-01

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

  8. [Genetic predisposition for alcoholism].

    PubMed

    Agarwal-Kozlowski, K; Agarwal, D P

    2000-04-01

    A number of socio-economic, cultural, biobehavioral factors and ethnic/gender differences are among the strongest determinants of drinking patterns in a society. Both epidemiological and clinical studies have implicated the excessive use of alcohol in the risk of developing a variety of organ, neuronal and metabolic disorders. Alcohol abuse related metabolic derangements affect almost all body organs and their functions. Race and gender differences in drinking patterns may play an important role in the development of medical conditions associated with alcohol abuse. The incidence of alcoholism in a community is influenced by per capita alcohol consumption and covariates with the relative price and availability of alcoholic drinks. The majority of the family, twin and adoption studies suggest that alcoholism is familial, a significant proportion of which can be attributed to genetic factors. The question is how much of the variance is explained by genetic factors and to what degree is this genetically mediated disorder moderated by personal characteristics. Among the most salient personal characteristics moderating, the genetic vulnerability may be factors such as age, ethnicity, and presence of psychiatric co morbidity. Cultural factors and familial environmental factors are most likely predictors as well.

  9. [Destructive cervical amyloidotic spondyloarthropathy in patients undergoing periodic dialysis. Personal experience].

    PubMed

    Madia, G; Mughetti, M; Muratore, F; Mignani, R; Leurini, R; Boccadoro, R; Denicolò, M

    1990-12-01

    The accumulation of amyloid (beta 2-microglobulin) in several organs and tissues of patients in chronic dialysis is a recent pathologic condition. A wide range of cases, supported by specific tests for amyloid on bioptic and autoptic samples, showed a radiographic semiology of osteostructural alterations in various areas which allows amyloidotic condition of bone to be diagnosed with high reliability. In 11 of 62 patients (17.74%) we observed destructive cervical amyloidotic spondyloarthropathy (DCAS). The radiological patterns common to all patients were subchondral sclerosis, erosions of vertebral body plates, widening/narrowing of intervertebral spaces, no/poor osteophytosis. Over-hanging was present in 54.5% of cases, and deformation of vertebral bodies in 45.4%. CT was useful in improving the definition of the various alterations, and in locating others, such as cavitations in vertebral bodies and involvement of apophyseal joints. Constant factors were the association with extravertebral osseous amyloidosis, dyalitic age over 60 months, and the use of Cuprophan membranes for dialysis. The frequent (72.72%) association with alterations involving the lumbar rachis (subchondral sclerosis, erosions and geodes) was suggestive of amyloidotic condition.

  10. Genetic Mapping

    MedlinePlus

    ... Genetic Education Resources for Teachers Genomic Careers National DNA Day Online Education Kit Online Genetics Education Resources ... prevalent. Using various laboratory techniques, the scientists isolate DNA from these samples and examine it for unique ...

  11. Genetic Disorders

    MedlinePlus

    ... This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from ... during your lifetime. There are three types of genetic disorders: Single-gene disorders, where a mutation affects ...

  12. Genetic engineering and autonomous agency.

    PubMed

    Barclay, Linda

    2003-01-01

    In this paper I argue that the genetic manipulation of sexual orientation at the embryo stage could have a detrimental effect on the subsequent person's later capacity for autonomous agency. By focussing on an example of sexist oppression I show that the norms and expectations expressed with this type of genetic manipulation can threaten the development of autonomous agency and the kind of social environment that makes its exercise likely. PMID:14989287

  13. Personality and Person Perception: A Person-Situation Analysis.

    ERIC Educational Resources Information Center

    Battistich, Victor A.

    There is a common assumption in personality psychology that an individual's attitudinal and/or motivational characteristics influence the selection, interpretation, and encoding of information from the external environment. However, recent reviews of empirical research in such areas as implicit personality theory and person perception offer little…

  14. Schizotypal personality: neurodevelopmental and psychosocial trajectories.

    PubMed

    Raine, Adrian

    2006-01-01

    Schizotypal personality research holds the promise of critically important insights into the etiology and ultimate prevention of schizophrenia. This article provides a critical overview of diagnostic, developmental, demographic, psychosocial, genetic, neurodevelopmental, psychophysiological, neurochemical, neurocognitive, brain imaging, and prevention-treatment issues pertaining to this personality disorder. It is argued that genetic and early environmental influences act in concert to alter brain structure/function throughout development, resulting in disturbances to basic cognitive and affective processes that give rise to three building blocks of schizotypy-cognitive-perceptual, interpersonal, and disorganized features. Two clinical subtypes are hypothesized: (a) neurodevelopmental schizotypy, which has its roots in genetic, prenatal, and early postnatal factors, is relatively stable, has genetic affinity to schizophrenia, and may benefit preferentially from pharmacological intervention, and (b) pseudoschizotypy, which is unrelated to schizophrenia, has its roots in psychosocial adversity, shows greater symptom fluctuations, and may be more responsive to psychosocial intervention.

  15. Genetic modification and genetic determinism

    PubMed Central

    Resnik, David B; Vorhaus, Daniel B

    2006-01-01

    In this article we examine four objections to the genetic modification of human beings: the freedom argument, the giftedness argument, the authenticity argument, and the uniqueness argument. We then demonstrate that each of these arguments against genetic modification assumes a strong version of genetic determinism. Since these strong deterministic assumptions are false, the arguments against genetic modification, which assume and depend upon these assumptions, are therefore unsound. Serious discussion of the morality of genetic modification, and the development of sound science policy, should be driven by arguments that address the actual consequences of genetic modification for individuals and society, not by ones propped up by false or misleading biological assumptions. PMID:16800884

  16. Genetic principles.

    PubMed

    Abuelo, D

    1987-01-01

    The author discusses the basic principles of genetics, including the classification of genetic disorders and a consideration of the rules and mechanisms of inheritance. The most common pitfalls in clinical genetic diagnosis are described, with emphasis on the problem of the negative or misleading family history.

  17. Imaging Genetics

    ERIC Educational Resources Information Center

    Munoz, Karen E.; Hyde, Luke W.; Hariri, Ahmad R.

    2009-01-01

    Imaging genetics is an experimental strategy that integrates molecular genetics and neuroimaging technology to examine biological mechanisms that mediate differences in behavior and the risks for psychiatric disorder. The basic principles in imaging genetics and the development of the field are discussed.

  18. Genetic Testing

    MedlinePlus

    ... genetic tests for several reasons. These include Finding genetic diseases in unborn babies Finding out if people carry a gene for a disease and might pass it on to their children Screening embryos for disease Testing for genetic diseases in adults before they cause ...

  19. Hearing Preservation Among Patients Undergoing Cochlear Implantation

    PubMed Central

    Van Abel, Kathryn M.; Dunn, Camille C.; Sladen, Douglas P.; Oleson, Jacob J.; Beatty, Charles W.; Neff, Brian A.; Hansen, Marlan; Gantz, Bruce J.; Driscoll, Colin L. W.

    2015-01-01

    Introduction Despite successful preservation of low-frequency hearing in patients undergoing cochlear implantation (CI) with shorter electrode lengths, there is still controversy regarding which electrodes maximize hearing preservation (HP). The thin straight electrode array (TSEA) has been suggested as a full cochlear coverage option for HP. However, very little is known regarding its HP potential. Methods A retrospective review was performed at two tertiary academic medical centers, reviewing the electronic records for 52 patients (mean, 58.2 yr; range, 11–85 yr) implanted with the Cochlear Nucleus CI422 Slim Straight (Centennial, CO, USA) electrode array, referred to herein as the thin straight electrode array or TSEA. All patients had a preoperative low-frequency pure-tone average (LFPTA) of 85 dB HL or less. Hearing thresholds were measured at initial activation (t1) and 6 months after activation (t2). HP was assessed by evaluating functional HP using a cutoff level of 85 dB HL PTA. Results At t1, 54% of the subjects had functional hearing; 33% of these subjects had an LFPTA between 71 and 85 dB HL, and 17% had an LFPTA between 56 and 70 dB HL. At t2, 47% of the patients had functional hearing, with 31% having an LFPTA between 71 and 85 dB HL. Discussion Preliminary research suggests that the TSEA has the potential to preserve functional hearing in 54% of patients at t1. However, 22% (n = 6) of the patients who had functional hearing at t1 (n = 28) lost their hearing between t1 and t2. Further studies are needed to evaluate factors that influence HP with the TSEA electrode and determine the speech perception benefits using electric and acoustic hearing over electric alone. PMID:25575373

  20. Sleep Disorders in ESRD Patients Undergoing Hemodialysis.

    PubMed

    Abassi, Mohammad Reza; Safavi, Amin; Haghverdi, Masoumeh; Saedi, Babak

    2016-03-01

    Kidney failure affects different aspects of normal life. Among different manifestations, sleep problem can be considered as a common complaint of ESRD (End Stage Renal Disease) patients. In this study, we aimed to investigate the interrelationship between sleep disorders in ESRD patients and their characteristics. Through a cross-sectional study (2010-2011), 88 ESRD patients undergoing maintenance hemodialysis thrice weekly were recruited to enter the study. We used a self-administered questionnaire into which the data were reflected. The patients selected their specific sleep disorders using a nine-item scale while the Epworth Sleepiness Scale (ESS) determined both the presence and severity of sleep disorders. The data was finally analyzed with their baseline characteristics, dialysis characteristics, medication/stimulants use, and clinical and biochemical parameters. Over 95% of the patients had, at least, one specific sleep disorder while the ESS revealed 36.36% of patients as normal, 59.09% as having mild sleep disorders, and 4.54% as having moderate to severe sleep disorders. Sleep disorders were significantly correlated with older ages (P=0.035), dialysis dose (P=0.001), blood creatinine levels (P=0.037), upper airways obstruction (P=0.035), hepatomegaly (P=0.006), hepatic failure (P=0.001), higher blood TSH levels (P=0.039), history of hypothyroidism (P=0.005), and the use of levodopa (P=0.004), anti-hypertensive medications (P=0.006), benzodiazepines (P=0.006), Eprex (Erythropoietin) (P=0.001), Venofer (Iron Sucrose Injection) (P=0.013), and phosphate-binders agents (P=0.018). Sleep disorders are common findings among ESRD patients and seem to be a more complicated issue than a simple accumulation of the wastes products in the body. Whatever the causes of sleep disorders are, disorder-specific treatments should be considered. PMID:27107522

  1. Correlation not Causation: The Relationship between Personality Traits and Political Ideologies

    PubMed Central

    Verhulst, Brad; Eaves, Lindon J.; Hatemi, Peter K.

    2013-01-01

    The assumption in the personality and politics literature is that a person's personality motivates them to develop certain political attitudes later in life. This assumption is founded on the simple correlation between the two constructs and the observation that personality traits are genetically influenced and develop in infancy, whereas political preferences develop later in life. Work in psychology, behavioral genetics, and recently political science, however, has demonstrated that political preferences also develop in childhood and are equally influenced by genetic factors. These findings cast doubt on the assumed causal relationship between personality and politics. Here we test the causal relationship between personality traits and political attitudes using a direction of causation structural model on a genetically informative sample. The results suggest that personality traits do not cause people to develop political attitudes; rather, the correlation between the two is a function of an innate common underlying genetic factor. PMID:22400142

  2. Correlation not causation: the relationship between personality traits and political ideologies.

    PubMed

    Verhulst, Brad; Eaves, Lindon J; Hatemi, Peter K

    2012-01-01

    The assumption in the personality and politics literature is that a person's personality motivates them to develop certain political attitudes later in life. This assumption is founded on the simple correlation between the two constructs and the observation that personality traits are genetically influenced and develop in infancy, whereas political preferences develop later in life. Work in psychology, behavioral genetics, and recently political science, however, has demonstrated that political preferences also develop in childhood and are equally influenced by genetic factors. These findings cast doubt on the assumed causal relationship between personality and politics. Here we test the causal relationship between personality traits and political attitudes using a direction of causation structural model on a genetically informative sample. The results suggest that personality traits do not cause people to develop political attitudes; rather, the correlation between the two is a function of an innate common underlying genetic factor.

  3. Genetics in the art and art in genetics.

    PubMed

    Bukvic, Nenad; Elling, John W

    2015-01-15

    "Healing is best accomplished when art and science are conjoined, when body and spirit are probed together", says Bernard Lown, in his book "The Lost Art of Healing". Art has long been a witness to disease either through diseases which affected artists or diseases afflicting objects of their art. In particular, artists have often portrayed genetic disorders and malformations in their work. Sometimes genetic disorders have mystical significance; other times simply have intrinsic interest. Recognizing genetic disorders is also an art form. From the very beginning of my work as a Medical Geneticist I have composed personal "algorithms" to piece together evidence of genetics syndromes and diseases from the observable signs and symptoms. In this paper we apply some 'gestalt' Genetic Syndrome Diagnostic algorithms to virtual patients found in some art masterpieces. In some the diagnosis is clear and in others the artists' depiction only supports a speculative differential diagnosis.

  4. Genetics in the art and art in genetics.

    PubMed

    Bukvic, Nenad; Elling, John W

    2015-01-15

    "Healing is best accomplished when art and science are conjoined, when body and spirit are probed together", says Bernard Lown, in his book "The Lost Art of Healing". Art has long been a witness to disease either through diseases which affected artists or diseases afflicting objects of their art. In particular, artists have often portrayed genetic disorders and malformations in their work. Sometimes genetic disorders have mystical significance; other times simply have intrinsic interest. Recognizing genetic disorders is also an art form. From the very beginning of my work as a Medical Geneticist I have composed personal "algorithms" to piece together evidence of genetics syndromes and diseases from the observable signs and symptoms. In this paper we apply some 'gestalt' Genetic Syndrome Diagnostic algorithms to virtual patients found in some art masterpieces. In some the diagnosis is clear and in others the artists' depiction only supports a speculative differential diagnosis. PMID:25089030

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

    PubMed

    Shaw, Alison; Hurst, Jane A

    2008-08-01

    Misconceptions about basic genetic concepts and inheritance patterns may be widespread in the general population. This paper investigates understandings of genetics, illness causality and inheritance among British Pakistanis referred to a UK genetics clinic. During participant observation of genetics clinic consultations and semi-structured interviews in Urdu or English in respondents' homes, we identified an array of environmental, behavioral and spiritual understandings of the causes of medical and intellectual problems. Misconceptions about the location of genetic information in the body and of genetic mechanisms of inheritance were common, reflected the range of everyday theories observed for White British patients and included the belief that a child receives more genetic material from the father than the mother. Despite some participants' conversational use of genetic terminology, some patients had assimilated genetic information in ways that conflict with genetic theory with potentially serious clinical consequences. Additionally, skepticism of genetic theories of illness reflected a rejection of a dominant discourse of genetic risk that stigmatizes cousin marriages. Patients referred to genetics clinics may not easily surrender their lay or personal theories about the causes of their own or their child's condition and their understandings of genetic risk. Genetic counselors may need to identify, work with and at times challenge patients' understandings of illness causality and inheritance. PMID:18607703

  6. Fundamentals of Pharmacogenetics in Personalized, Precision Medicine.

    PubMed

    Valdes, Roland; Yin, DeLu Tyler

    2016-09-01

    This article introduces fundamental principles of pharmacogenetics as applied to personalized and precision medicine. Pharmacogenetics establishes relationships between pharmacology and genetics by connecting phenotypes and genotypes in predicting the response of therapeutics in individual patients. We describe differences between precision and personalized medicine and relate principles of pharmacokinetics and pharmacodynamics to applications in laboratory medicine. We also review basic principles of pharmacogenetics, including its evolution, how it enables the practice of personalized therapeutics, and the role of the clinical laboratory. These fundamentals are a segue for understanding specific clinical applications of pharmacogenetics described in subsequent articles in this issue.

  7. Fundamentals of Pharmacogenetics in Personalized, Precision Medicine.

    PubMed

    Valdes, Roland; Yin, DeLu Tyler

    2016-09-01

    This article introduces fundamental principles of pharmacogenetics as applied to personalized and precision medicine. Pharmacogenetics establishes relationships between pharmacology and genetics by connecting phenotypes and genotypes in predicting the response of therapeutics in individual patients. We describe differences between precision and personalized medicine and relate principles of pharmacokinetics and pharmacodynamics to applications in laboratory medicine. We also review basic principles of pharmacogenetics, including its evolution, how it enables the practice of personalized therapeutics, and the role of the clinical laboratory. These fundamentals are a segue for understanding specific clinical applications of pharmacogenetics described in subsequent articles in this issue. PMID:27514461

  8. Genetic therapy for the nervous system.

    PubMed

    Bowers, William J; Breakefield, Xandra O; Sena-Esteves, Miguel

    2011-04-15

    Genetic therapy is undergoing a renaissance with expansion of viral and synthetic vectors, use of oligonucleotides (RNA and DNA) and sequence-targeted regulatory molecules, as well as genetically modified cells, including induced pluripotent stem cells from the patients themselves. Several clinical trials for neurologic syndromes appear quite promising. This review covers genetic strategies to ameliorate neurologic syndromes of different etiologies, including lysosomal storage diseases, Alzheimer's disease and other amyloidopathies, Parkinson's disease, spinal muscular atrophy, amyotrophic lateral sclerosis and brain tumors. This field has been propelled by genetic technologies, including identifying disease genes and disruptive mutations, design of genomic interacting elements to regulate transcription and splicing of specific precursor mRNAs and use of novel non-coding regulatory RNAs. These versatile new tools for manipulation of genetic elements provide the ability to tailor the mode of genetic intervention to specific aspects of a disease state.

  9. Oprelvekin. Genetics Institute.

    PubMed

    Sitaraman, S V; Gewirtz, A T

    2001-10-01

    Genetics Institute has developed and launched oprelvekin (rhIL-11; Neumega), a recombinant form of human IL-11. In November 1997, the FDA cleared oprelvekin for the prevention of severe thrombocytopenia and the reduction of the need for platelet transfusions following myelosuppressive chemotherapy in susceptible patients with non-myeloid malignancies 12703021. The product was launched at the end of 1997 [312556]. By December 1999, phase III trials for Crohn's disease (CD) were underway [363007]. Genetics Institute had commenced a 150-patient phase II trial for mild-to-moderate CD and mucositis and the company planned to file regulatory procedures for the indication of CD in 1999 [271210]. An oral formulation for this indication has been developed. Oprelvekin is also undergoing phase I clinical trials for colitis [396157], phase II clinical trials for rheumatoid arthritis [413835] and clinical trials for psoriasis [299644]. In March 1997, Wyeth-Ayerst became the licensee for Europe, Africa, Latin America and Asia (with the exception of Japan). Genetics Institute holds marketing rights for North America [239273]. In Japan, oprelvekin is being developed by Genetics Institute and Yamanouchi; phase III trials have commenced [295049] and were ongoing in May 2001 [411763]. In April 1996, analysts at Yamaichi estimated launch in 2001 and maximum annual sales of over yen 10 billion [215896]. In January 1998, Morgan Stanley Dean Witter predicted Yamanouchi's share of sales to be yen 1 billion in 2001, rising to yen 2 billion in 2002 [315458]. Sales of oprelvekin were US $34 million for Genetics institute in fiscal 2000 while, in July 2001, Credit Suisse First Boston estimated that this figure will be US $30 million and US $34 million in 2001 and 2002, respectively [416883]. PMID:11890354

  10. Cancer genetics in primary care.

    PubMed

    McKelvey, Kent D; Evans, James P

    2003-11-01

    Primary care physicians are in a unique position to apply recent advances in cancer genetics to the improved care of their patients. Although the impact of our burgeoning knowledge in this area is significant and growing, it is often incompletely understood by the general practitioner. In this article we review the genetic basis of cancer and focus attention on inherited forms of cancer using breast cancer gene 1 (BRCA1) and breast cancer gene 2 (BRCA2) as examples. Specific attributes of family and personal history are the most significant indicators of an increased risk of cancer in the individual patient. Genetic testing can be used to further assess risk and guide strategies for cancer screening, prevention, and treatment. However, the decision of whether to pursue genetic testing and the interpretation of results are complex. We review factors involved in these decisions as well as the implications, risks, and benefits of genetic testing for the individual and the family.

  11. Genomic profiling of murine mammary tumors identifies potential personalized drug targets for p53-deficient mammary cancers

    PubMed Central

    Agrawal, Yash N.; Koboldt, Daniel C.; Kanchi, Krishna L.; Herschkowitz, Jason I.; Mardis, Elaine R.; Rosen, Jeffrey M.; Perou, Charles M.

    2016-01-01

    ABSTRACT Targeted therapies against basal-like breast tumors, which are typically ‘triple-negative breast cancers (TNBCs)’, remain an important unmet clinical need. Somatic TP53 mutations are the most common genetic event in basal-like breast tumors and TNBC. To identify additional drivers and possible drug targets of this subtype, a comparative study between human and murine tumors was performed by utilizing a murine Trp53-null mammary transplant tumor model. We show that two subsets of murine Trp53-null mammary transplant tumors resemble aspects of the human basal-like subtype. DNA-microarray, whole-genome and exome-based sequencing approaches were used to interrogate the secondary genetic aberrations of these tumors, which were then compared to human basal-like tumors to identify conserved somatic genetic features. DNA copy-number variation produced the largest number of conserved candidate personalized drug targets. These candidates were filtered using a DNA-RNA Pearson correlation cut-off and a requirement that the gene was deemed essential in at least 5% of human breast cancer cell lines from an RNA-mediated interference screen database. Five potential personalized drug target genes, which were spontaneously amplified loci in both murine and human basal-like tumors, were identified: Cul4a, Lamp1, Met, Pnpla6 and Tubgcp3. As a proof of concept, inhibition of Met using crizotinib caused Met-amplified murine tumors to initially undergo complete regression. This study identifies Met as a promising drug target in a subset of murine Trp53-null tumors, thus identifying a potential shared driver with a subset of human basal-like breast cancers. Our results also highlight the importance of comparative genomic studies for discovering personalized drug targets and for providing a preclinical model for further investigations of key tumor signaling pathways. PMID:27149990

  12. Narcissistic personality disorder

    MedlinePlus

    Personality disorder - borderline; Narcissism ... A person with narcissistic personality disorder may: React to criticism with rage, shame, or humiliation Take advantage of other people to achieve his or her ...

  13. Genetic coding and gene expression - new Quadruplet genetic coding model

    NASA Astrophysics Data System (ADS)

    Shankar Singh, Rama

    2012-07-01

    Successful demonstration of human genome project has opened the door not only for developing personalized medicine and cure for genetic diseases, but it may also answer the complex and difficult question of the origin of life. It may lead to making 21st century, a century of Biological Sciences as well. Based on the central dogma of Biology, genetic codons in conjunction with tRNA play a key role in translating the RNA bases forming sequence of amino acids leading to a synthesized protein. This is the most critical step in synthesizing the right protein needed for personalized medicine and curing genetic diseases. So far, only triplet codons involving three bases of RNA, transcribed from DNA bases, have been used. Since this approach has several inconsistencies and limitations, even the promise of personalized medicine has not been realized. The new Quadruplet genetic coding model proposed and developed here involves all four RNA bases which in conjunction with tRNA will synthesize the right protein. The transcription and translation process used will be the same, but the Quadruplet codons will help overcome most of the inconsistencies and limitations of the triplet codes. Details of this new Quadruplet genetic coding model and its subsequent potential applications including relevance to the origin of life will be presented.

  14. The Genetic Privacy Act and commentary

    SciTech Connect

    Annas, G.J.; Glantz, L.H.; Roche, P.A.

    1995-02-28

    The Genetic Privacy Act is a proposal for federal legislation. The Act is based on the premise that genetic information is different from other types of personal information in ways that require special protection. Therefore, to effectively protect genetic privacy unauthorized collection and analysis of individually identifiable DNA must be prohibited. As a result, the premise of the Act is that no stranger should have or control identifiable DNA samples or genetic information about an individual unless that individual specifically authorizes the collection of DNA samples for the purpose of genetic analysis, authorized the creation of that private information, and has access to and control over the dissemination of that information.

  15. Genetics Home Reference: ovarian cancer

    MedlinePlus

    ... with germline mutations, other inherited and somatic gene changes, together with environmental and lifestyle factors, also influence whether a woman ... area of medical research. In addition to genetic changes, researchers ... many personal and environmental factors that contribute to a woman's risk of ...

  16. Personality study in profoundly deaf adults.

    PubMed

    Sánchez Galán, L; Díez Sánchez, M A; Llorca Ramón, G; del Cañizo Fernández-Roldán, A

    2000-01-01

    The difference with which the pre-lingual and post-lingual profoundly deaf confront their deafness is evident: the reticence of many pre-lingual deaf persons when faced with technological advances and genetic investigations is not present among the post-lingual deaf. This article looks at this difference from the person as a whole, and aims to carry out a comparative study of the personalities of both groups and of the non-deaf. To this end, three samples were taken (one of pre-lingual deaf persons, one of post-lingual deaf persons and a third of non-deaf persons) and the Mini-Mult personality questionnaire was employed as a measuring instrument. Significant differences were found in 5 clinical scales: Hs (hypochondria), Hy (hysteria), Pa (paranoia), Pt (psychastenia), Sc (schizophrenia). The differences between the deaf and the non-deaf are statistically significant. The profile obtained for the pre-lingual deaf is high on the schizophrenia scale (Sc), and suggests a kind of person where the said scale might detect isolation derived from deafness. The profile of the post-lingual deaf, marked by the hypochondria scale, shows persons with severe hypersensibility and fears regarding their state of health. The significant influence of variables such as level of education and state of employment on the post-lingual deaf and, in particular, on his feeling of loneliness and his worries regarding his deafness, his state of mind and his possible paranoiac tendencies, makes them factors that must be taken into consideration when fundamentally evaluating the personality of a post-lingual deaf person. These personality traits influence the way a profoundly deaf person confronts his deafness. PMID:11387661

  17. Paranoid personality disorder

    MedlinePlus

    Personality disorder - paranoid ... Causes of paranoid personality disorder are unknown. The disorder appears to be more common in families with psychotic disorders, such as schizophrenia and delusional ...

  18. Genetic barcodes

    DOEpatents

    Weier, Heinz -Ulrich G

    2015-08-04

    Herein are described multicolor FISH probe sets termed "genetic barcodes" targeting several cancer or disease-related loci to assess gene rearrangements and copy number changes in tumor cells. Two, three or more different fluorophores are used to detect the genetic barcode sections thus permitting unique labeling and multilocus analysis in individual cell nuclei. Gene specific barcodes can be generated and combined to provide both numerical and structural genetic information for these and other pertinent disease associated genes.

  19. Personalized cancer care conference.

    PubMed

    Zänker, Kurt S; Mihich, Enrico; Huber, Hans-Peter; Borresen-Dale, Anne-Lise

    2013-01-01

    The Oslo University Hospital (Norway), the K.G. Jebsen Centre for Breast Cancer Research (Norway), The Radiumhospital Foundation (Norway) and the Fritz-Bender-Foundation (Germany) designed under the conference chairmen (E. Mihich, K.S. Zänker, A.L. Borresen-Dale) and advisory committee (A. Borg, Z. Szallasi, O. Kallioniemi, H.P. Huber) a program at the cutting edge of "PERSONALIZED CANCER CARE: Risk prediction, early diagnosis, progression and therapy resistance." The conference was held in Oslo from September 7 to 9, 2012 and the science-based presentations concerned six scientific areas: (1) Genetic profiling of patients, prediction of risk, late side effects; (2) Molecular profiling of tumors and metastases; (3) Tumor-host microenvironment interaction and metabolism; (4) Targeted therapy; (5) Translation and (6) Informed consent, ethical challenges and communication. Two satellite workshops on (i) Ion Ampliseq-a novel tool for large scale mutation detection; and (ii) Multiplex RNA ISH and tissue homogenate assays for cancer biomarker validation were additionally organized. The report concludes that individual risk prediction in carcinogenesis and/or metastatogenesis based on polygenic profiling may be useful for intervention strategies for health care and therapy planning in the future. To detect distinct and overlapping DNA sequence alterations in tumor samples and adjacent normal tissues, including point mutations, small insertions or deletions, copy number changes and chromosomal rearrangements will eventually make it possible to design personalized management plans for individualized patients. However, large individualized datasets need a new approach in bio-information technology to reduce this enormous data dimensionally to simply working hypotheses about health and disease for each individual. PMID:25562519

  20. Personalized Cancer Care Conference

    PubMed Central

    Zänker, Kurt S.; Mihich, Enrico; Huber, Hans-Peter; Borresen-Dale, Anne-Lise

    2013-01-01

    The Oslo University Hospital (Norway), the K.G. Jebsen Centre for Breast Cancer Research (Norway), The Radiumhospital Foundation (Norway) and the Fritz-Bender-Foundation (Germany) designed under the conference chairmen (E. Mihich, K.S. Zänker, A.L. Borresen-Dale) and advisory committee (A. Borg, Z. Szallasi, O. Kallioniemi, H.P. Huber) a program at the cutting edge of “PERSONALIZED CANCER CARE: Risk prediction, early diagnosis, progression and therapy resistance.” The conference was held in Oslo from September 7 to 9, 2012 and the science-based presentations concerned six scientific areas: (1) Genetic profiling of patients, prediction of risk, late side effects; (2) Molecular profiling of tumors and metastases; (3) Tumor-host microenvironment interaction and metabolism; (4) Targeted therapy; (5) Translation and (6) Informed consent, ethical challenges and communication. Two satellite workshops on (i) Ion Ampliseq—a novel tool for large scale mutation detection; and (ii) Multiplex RNA ISH and tissue homogenate assays for cancer biomarker validation were additionally organized. The report concludes that individual risk prediction in carcinogenesis and/or metastatogenesis based on polygenic profiling may be useful for intervention strategies for health care and therapy planning in the future. To detect distinct and overlapping DNA sequence alterations in tumor samples and adjacent normal tissues, including point mutations, small insertions or deletions, copy number changes and chromosomal rearrangements will eventually make it possible to design personalized management plans for individualized patients. However, large individualized datasets need a new approach in bio-information technology to reduce this enormous data dimensionally to simply working hypotheses about health and disease for each individual. PMID:25562519

  1. Paleopopulation genetics.

    PubMed

    Wall, Jeffrey D; Slatkin, Montgomery

    2012-01-01

    Paleopopulation genetics is a new field that focuses on the population genetics of extinct groups and ancestral populations (i.e., populations ancestral to extant groups). With recent advances in DNA sequencing technologies, we now have unprecedented ability to directly assay genetic variation from fossils. This allows us to address issues, such as past population structure, changes in population size, and evolutionary relationships between taxa, at a much greater resolution than can traditional population genetics studies. In this review, we discuss recent developments in this emerging field as well as prospects for the future. PMID:22994357

  2. Genetic counselling as care of the self.

    PubMed

    Leontini, Rose

    2010-07-01

    Genetic counselling has frequently been described as a disciplinary practice, with the goal of 'risk reduction'. In this article another dimension to genetic counselling is considered through the Foucauldian theorization on the care of the self. Drawing on narrative analysis, I examine how one informant undergoing genetic counselling interprets the technique of imagining alternative futures learned through counselling, and transforms it into an ethical practice of self-care. The findings suggest that what may begin as a medical issue with implications for one's health, becomes a meditation over one's disposition towards life, in a way that is consonant with one's desires and values.

  3. International Students and Their Experiences of Personal Development Planning

    ERIC Educational Resources Information Center

    Baker, Kate L.; Perkins, Joy; Comber, Darren P. M.

    2014-01-01

    Taught postgraduate students are a unique group, undergoing a short, intensive period of study. Many taught postgraduate students are international, engaging for the first time with new learning approaches, including Personal Development Planning (PDP). This article provides analysis of the views of international taught postgraduates about the…

  4. Radiation Dose Estimation for Pediatric Patients Undergoing Cardiac Catheterization

    NASA Astrophysics Data System (ADS)

    Wang, Chu

    Patients undergoing cardiac catheterization are potentially at risk of radiation-induced health effects from the interventional fluoroscopic X-ray imaging used throughout the clinical procedure. The amount of radiation exposure is highly dependent on the complexity of the procedure and the level of optimization in imaging parameters applied by the clinician. For cardiac catheterization, patient radiation dosimetry, for key organs as well as whole-body effective, is challenging due to the lack of fixed imaging protocols, unlike other common X-ray based imaging modalities. Pediatric patients are at a greater risk compared to adults due to their greater cellular radio-sensitivities as well as longer remaining life-expectancy following the radiation exposure. In terms of radiation dosimetry, they are often more challenging due to greater variation in body size, which often triggers a wider range of imaging parameters in modern imaging systems with automatic dose rate modulation. The overall objective of this dissertation was to develop a comprehensive method of radiation dose estimation for pediatric patients undergoing cardiac catheterization. In this dissertation, the research is divided into two main parts: the Physics Component and the Clinical Component. A proof-of-principle study focused on two patient age groups (Newborn and Five-year-old), one popular biplane imaging system, and the clinical practice of two pediatric cardiologists at one large academic medical center. The Physics Component includes experiments relevant to the physical measurement of patient organ dose using high-sensitivity MOSFET dosimeters placed in anthropomorphic pediatric phantoms. First, the three-dimensional angular dependence of MOSFET detectors in scatter medium under fluoroscopic irradiation was characterized. A custom-made spherical scatter phantom was used to measure response variations in three-dimensional angular orientations. The results were to be used as angular dependence

  5. Genetic links, family ties, and social bonds: rights and responsibilities in the face of genetic knowledge.

    PubMed

    Rhodes, R

    1998-02-01

    Currently, some of the most significant moral issues involving genetic links relate to genetic knowledge. In this paper, instead of looking at the frequently addressed issues of responsibilities professionals or institutions have to individuals, I take up the question of what responsibilities individuals have to one another with respect to genetic knowledge. I address the questions of whether individuals have a moral right to pursue their own goals without contributing to society's knowledge of population genetics, without adding to their family's knowledge of its genetic history, and without discovering genetic information about themselves and their offspring. These questions lead to an examination of the presumed right to genetic ignorance and an exploration of a variety of social bonds. Analyzing cases in light of these considerations leads to a surprising conclusion about a widely accepted precept of genetic counseling, to some ethical insights into typical problems, and to some further unanswered questions about personal responsibility in the face of genetic knowledge.

  6. Jumping on the Train of Personalized Medicine: A Primer for Non- Geneticist Clinicians: Part 3. Clinical Applications in the Personalized Medicine Area

    PubMed Central

    Li, Aihua; Meyre, David

    2014-01-01

    The rapid decline of sequencing costs brings hope that personal genome sequencing will become a common feature of medical practice. This series of three reviews aim to help non-geneticist clinicians to jump into the fast-moving field of personalized genetic medicine. In the first two articles, we covered the fundamental concepts of molecular genetics and the methodologies used in genetic epidemiology. In this third article, we discuss the evolution of personalized medicine and illustrate the most recent success in the fields of Mendelian and complex human diseases. We also address the challenges that currently limit the use of personalized medicine to its full potential. PMID:25598768

  7. Genetic drift of HIV populations in culture.

    PubMed

    Voronin, Yegor; Holte, Sarah; Overbaugh, Julie; Emerman, Michael

    2009-03-01

    Populations of Human Immunodeficiency Virus type 1 (HIV-1) undergo a surprisingly large amount of genetic drift in infected patients despite very large population sizes, which are predicted to be mostly deterministic. Several models have been proposed to explain this phenomenon, but all of them implicitly assume that the process of virus replication itself does not contribute to genetic drift. We developed an assay to measure the amount of genetic drift for HIV populations replicating in cell culture. The assay relies on creation of HIV populations of known size and measurements of variation in frequency of a neutral allele. Using this assay, we show that HIV undergoes approximately ten times more genetic drift than would be expected from its population size, which we defined as the number of infected cells in the culture. We showed that a large portion of the increase in genetic drift is due to non-synchronous infection of target cells. When infections are synchronized, genetic drift for the virus is only 3-fold higher than expected from its population size. Thus, the stochastic nature of biological processes involved in viral replication contributes to increased genetic drift in HIV populations. We propose that appreciation of these effects will allow better understanding of the evolutionary forces acting on HIV in infected patients.

  8. Genetic Engineering

    ERIC Educational Resources Information Center

    Phillips, John

    1973-01-01

    Presents a review of genetic engineering, in which the genotypes of plants and animals (including human genotypes) may be manipulated for the benefit of the human species. Discusses associated problems and solutions and provides an extensive bibliography of literature relating to genetic engineering. (JR)

  9. Childhood trauma and personality disorder: toward a biological model.

    PubMed

    Lee, Royce

    2006-02-01

    Cross-sectional and prospective associations of personality disorder with childhood trauma provide an important clue regarding the biological mechanism of personality disorder. In this review, empirical literature from several domains is summarized. These include relevant findings from behavioral genetics, preclinical models of early life parental care, and clinical translational studies of personality disorder. Identification of the biological mechanism by which childhood trauma exerts an effect on personality disorder may require modification of the conceptualization of personality disorder, either as a set of categories or dimensions.

  10. Managing Your Personal Brand

    ERIC Educational Resources Information Center

    Gander, Michelle

    2014-01-01

    Everyone has a personal brand. To ensure success at work you need to manage your personal brand which is made up of your tangible and intangible attributes. This paper reviews the literature around personal branding, looks at some of the attributes and discusses ways you can reflect and begin to build your personal brand in a higher education…

  11. Clearance and synthesis rates of beta 2-microglobulin in patients undergoing hemodialysis and in normal subjects

    SciTech Connect

    Floege, J.; Bartsch, A.; Schulze, M.; Shaldon, S.; Koch, K.M.; Smeby, L.C. )

    1991-08-01

    Retention of {beta} 2-microglobulin in patients undergoing hemodialysis is associated with a {beta} 2-microglobulin-derived amyloidosis. Removal of {beta} 2-microglobulin by renal replacement therapy has been proposed for the prevention of this amyloidosis. Currently, however, data on the {beta} 2-microglobulin synthesis rate in patients undergoing hemodialysis are scarce, and consequently it remains speculative how much removal would be necessary to counterbalance synthesis. The plasma kinetics of iodine 131-labeled {beta} 2-microglobulin were therefore examined in 11 patients with anuria who were undergoing long-term hemodialysis. Five healthy persons served as controls. Kinetic modeling of the plasma curves showed that the data fitted a two-pool model (r2 greater than 0.96) consisting of a rapid 2 to 4 hour distribution phase followed by a less steep curve, described by the plasma (metabolic) clearance (Clp). Synthetic rates were calculated from Clp and the {beta} 2-microglobulin steady state plasma concentration (plus {beta} 2-microglobulin removal during hemodialysis in the case of high flux hemodialysis). The results showed a significantly higher Clp in normal controls as compared with patients undergoing hemodialysis (65.5 {plus minus} 12.8 ml/min (mean {plus minus} SD) versus 3.4 {plus minus} 0.7 ml/min). In contrast, the {beta} 2-microglobulin synthesis rate in the patient group (3.10 {plus minus} 0.79 mg/kg/day) was not significantly different from that of normal controls (2.40 {plus minus} 0.67 mg/kg/day), which was due to markedly elevated {beta} 2-microglobulin plasma concentrations in the patients (37.6 {plus minus} 14.1 mg/L vs 1.92 {plus minus} 0.27 mg/L). These findings suggest that the presence of end-stage renal disease does not have a significant impact on the beta 2-microglobulin generation rate.

  12. Advancing Pharmacogenomics Education in the Core PharmD Curriculum through Student Personal Genomic Testing

    PubMed Central

    Adams, Solomon M.; Anderson, Kacey B.; Coons, James C.; Smith, Randall B.; Meyer, Susan M.; Parker, Lisa S.

    2016-01-01

    Objective. To develop, implement, and evaluate “Test2Learn” a program to enhance pharmacogenomics education through the use of personal genomic testing (PGT) and real genetic data. Design. One hundred twenty-two second-year doctor of pharmacy (PharmD) students in a required course were offered PGT as part of a larger program approach to teach pharmacogenomics within a robust ethical framework. The program added novel learning objectives, lecture materials, analysis tools, and exercises using individual-level and population-level genetic data. Outcomes were assessed with objective measures and pre/post survey instruments. Assessment. One hundred students (82%) underwent PGT. Knowledge significantly improved on multiple assessments. Genotyped students reported a greater increase in confidence in understanding test results by the end of the course. Similarly, undergoing PGT improved student’s self-perceived ability to empathize with patients compared to those not genotyped. Most students (71%) reported feeling PGT was an important part of the course, and 60% reported they had a better understanding of pharmacogenomics specifically because of the opportunity. Conclusion. Implementation of PGT in the core pharmacy curriculum was feasible, well-received, and enhanced student learning of pharmacogenomics. PMID:26941429

  13. Personalized Medicine Approaches in Prostate Cancer Employing Patient Derived 3D Organoids and Humanized Mice

    PubMed Central

    Bartucci, Monica; Ferrari, Anna C.; Kim, Isaac Yi; Ploss, Alexander; Yarmush, Martin; Sabaawy, Hatem E.

    2016-01-01

    Prostate cancer (PCa) is the most common malignancy and the second most common cause of cancer death in Western men. Despite its prevalence, PCa has proven very difficult to propagate in vitro. PCa represents a complex organ-like multicellular structure maintained by the dynamic interaction of tumoral cells with parenchymal stroma, endothelial and immune cells, and components of the extracellular matrix (ECM). The lack of PCa models that recapitulate this intricate system has hampered progress toward understanding disease progression and lackluster therapeutic responses. Tissue slices, monolayer cultures and genetically engineered mouse models (GEMM) fail to mimic the complexities of the PCa microenvironment or reproduce the diverse mechanisms of therapy resistance. Moreover, patient derived xenografts (PDXs) are expensive, time consuming, difficult to establish for prostate cancer, lack immune cell-tumor regulation, and often tumors undergo selective engraftments. Here, we describe an interdisciplinary approach using primary PCa and tumor initiating cells (TICs), three-dimensional (3D) tissue engineering, genetic and morphometric profiling, and humanized mice to generate patient-derived organoids for examining personalized therapeutic responses in vitro and in mice co-engrafted with a human immune system (HIS), employing adaptive T-cell- and chimeric antigen receptor- (CAR) immunotherapy. The development of patient specific therapies targeting the vulnerabilities of cancer, when combined with antiproliferative and immunotherapy approaches could help to achieve the full transformative power of cancer precision medicine. PMID:27446916

  14. Personalized Medicine Approaches in Prostate Cancer Employing Patient Derived 3D Organoids and Humanized Mice.

    PubMed

    Bartucci, Monica; Ferrari, Anna C; Kim, Isaac Yi; Ploss, Alexander; Yarmush, Martin; Sabaawy, Hatem E

    2016-01-01

    Prostate cancer (PCa) is the most common malignancy and the second most common cause of cancer death in Western men. Despite its prevalence, PCa has proven very difficult to propagate in vitro. PCa represents a complex organ-like multicellular structure maintained by the dynamic interaction of tumoral cells with parenchymal stroma, endothelial and immune cells, and components of the extracellular matrix (ECM). The lack of PCa models that recapitulate this intricate system has hampered progress toward understanding disease progression and lackluster therapeutic responses. Tissue slices, monolayer cultures and genetically engineered mouse models (GEMM) fail to mimic the complexities of the PCa microenvironment or reproduce the diverse mechanisms of therapy resistance. Moreover, patient derived xenografts (PDXs) are expensive, time consuming, difficult to establish for prostate cancer, lack immune cell-tumor regulation, and often tumors undergo selective engraftments. Here, we describe an interdisciplinary approach using primary PCa and tumor initiating cells (TICs), three-dimensional (3D) tissue engineering, genetic and morphometric profiling, and humanized mice to generate patient-derived organoids for examining personalized therapeutic responses in vitro and in mice co-engrafted with a human immune system (HIS), employing adaptive T-cell- and chimeric antigen receptor- (CAR) immunotherapy. The development of patient specific therapies targeting the vulnerabilities of cancer, when combined with antiproliferative and immunotherapy approaches could help to achieve the full transformative power of cancer precision medicine. PMID:27446916

  15. [Personalized medicine in rheumatology].

    PubMed

    Szekanecz, Zoltán

    2013-03-31

    In rheumatology, especially in arthritides, early diagnosis and aggressive therapy may open up new dimensions of expectations, such as improvement of pain, prevention of structural, functional damage and better quality of life. Targeted (biological) therapy has brought new horizons in rheumatology. As it is a rather expensive treatment modality, it has been urgent to develop tools suitable for the prediction of therapeutic responses. Several clinical, immunological and genetic biomarkers have been established for this purpose. Among clinical markers, male sex, younger age, lower or even higher disease activity at baseline, combination treatment and quitting smoking may lead to better treatment outcome. Immunological biomarkers, such as C-reactive protein, seropositivity, peripheral blood or synovial cellular content have been associated with therapeutic responses. Finally, numerous genes or gene signatures may also predict the efficacy or safety of immunosuppressive drugs. Although sometimes there have been only few studies conducted that led to some controversy, some biomarkers have also been validated. This may lead us to optimism in terms of wider acceptance of personalized medicine in rheumatology. PMID:23524232

  16. The genetics of neuroticism and human values

    PubMed Central

    Lancaster, Thomas M.; Maio, Gregory R.; Linden, David E. J.

    2016-01-01

    Human values and personality have been shown to share genetic variance in twin studies. However, there is a lack of evidence about the genetic components of this association. This study examined the interplay between genes, values and personality in the case of neuroticism, because polygenic scores were available for this personality trait. First, we replicated prior evidence of a positive association between the polygenic neuroticism score (PNS) and neuroticism. Second, we found that the PNS was significantly associated with the whole human value space in a sinusoidal waveform that was consistent with Schwartz's circular model of human values. These results suggest that it is useful to consider human values in the analyses of genetic contributions to personality traits. They also pave the way for an investigation of the biological mechanisms contributing to human value orientations. PMID:26915771

  17. The Genetic Privacy Act and commentary

    SciTech Connect

    Annas, G.J.; Glantz, L.H.; Roche, P.A.

    1995-02-28

    The Genetic Privacy Act is a proposal for federal legislation. The Act is based on the premise that genetic information is different from other types of personal information in ways that require special protection. The DNA molecule holds an extensive amount of currently indecipherable information. The major goal of the Human Genome Project is to decipher this code so that the information it contains is accessible. The privacy question is, accessible to whom? The highly personal nature of the information contained in DNA can be illustrated by thinking of DNA as containing an individual`s {open_quotes}future diary.{close_quotes} A diary is perhaps the most personal and private document a person can create. It contains a person`s innermost thoughts and perceptions, and is usually hidden and locked to assure its secrecy. Diaries describe the past. The information in one`s genetic code can be thought of as a coded probabilistic future diary because it describes an important part of a unique and personal future. This document presents an introduction to the proposal for federal legislation `the Genetic Privacy Act`; a copy of the proposed act; and comment.

  18. Re-Examining the Gene in Personalized Genomics

    ERIC Educational Resources Information Center

    Bartol, Jordan

    2013-01-01

    Personalized genomics companies (PG; also called "direct-to-consumer genetics") are businesses marketing genetic testing to consumers over the Internet. While much has been written about these new businesses, little attention has been given to their roles in science communication. This paper provides an analysis of the gene concept…

  19. Property rights in genetic information.

    PubMed

    Spinello, Richard A

    2004-01-01

    The primary theme of this paper is the normative case against ownership of one's genetic information along with the source of that information (usually human tissues samples). The argument presented here against such "upstream" property rights is based primarily on utilitarian grounds. This issue has new salience thanks to the Human Genome Project and "bio-prospecting" initiatives based on the aggregation of genetic information, such as the one being managed by deCODE Genetics in Iceland. The rationale for ownership is twofold: ownership will protect the basic human rights of privacy and autonomy and it will enable the data subjects to share in the tangible benefits of the genetic research. Proponents of this viewpoint often cite the principle of genetic exceptionalism, which asserts that genetic information needs a higher level of protection than other kinds of personal information such as financial data. We argue, however, that the recognition of such ownership rights would lead to inefficiency along with the disutility of genetic discoveries. Biomedical research will be hampered if property rights in genes and genetic material are too extensive. We contend that other mechanisms such as informed consent and strict confidentiality rules can accomplish the same result as a property right without the liabilities of an exclusive entitlement. PMID:16969959

  20. 14. EAST ELEVATION, COTTAGE. EXTERIOR NEARLY RESTORED. INTERIOR UNDERGOING RESTORATION. ...

    Library of Congress Historic Buildings Survey, Historic Engineering Record, Historic Landscapes Survey

    14. EAST ELEVATION, COTTAGE. EXTERIOR NEARLY RESTORED. INTERIOR UNDERGOING RESTORATION. EUCALYPTUS TREE PLANTED BY GERTRUDE KEIL PLANNED FOR REMOVAL. - Gold Ridge Farm, 7777 Bodega Avenue, Sebastopol, Sonoma County, CA

  1. 75 FR 6670 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-02-10

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information... of Infectious Diseases (NCPDCID), Centers for Disease Control and Prevention (CDC). Background...

  2. 78 FR 60283 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-10-01

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information... this notice. Proposed Project Monitoring and Reporting System for Chronic Disease Prevention...

  3. 77 FR 24207 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-04-23

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information... Zoonotic Infectious Diseases (NCEZID), Centers for Disease Control and Prevention (CDC). Background...

  4. 78 FR 18595 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-03-27

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction... Health Promotion (NCCDPHP), Centers for Disease Control and Prevention (CDC). Background and...

  5. 75 FR 17921 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-04-08

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction... Center for Chronic Disease Prevention and Health Promotion (NCCDPHP), Centers for Disease Control...

  6. 76 FR 44337 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-07-25

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information... Health Statistics (NCHS), Centers for Disease Control and Prevention (CDC). Background and...

  7. 76 FR 27326 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-05-11

    ... undergoing rapid change with the continuing introduction of new tests, increased focus on evidence-based... laboratory testing innovations into their day-to- day practices. This survey seeks to provide insight...

  8. Prostate Cancer Genetics: A Review

    PubMed Central

    Wallis, Christopher J.D.

    2015-01-01

    Over the past decades, research has focussed on identifying the genetic underpinnings of prostate cancer. It has been recognized that a number of forms of genetic changes coupled with epigenetic and gene expression changes can increase the prediction to develop prostate cancer. This review outlines the role of somatic copy number alterations (SCNAs), structural rearrangements, point mutations, and single nucleotide polymorphisms (SNPs) as well as miRNAs. Identifying relevant genetic changes offers the ability to develop novel biomarkers to allow early and accurate detection of prostate cancer as well as provide risk stratification of patients following their diagnosis. The concept of personalized or individualized medicine has gained significant attention. Therefore, a better understanding of the genetic and metabolic pathways underlying prostate cancer development offers the opportunity to explore new therapeutic interventions with the possibility of offering patient-specific targeted therapy.

  9. Drug & Gene Interaction Risk Analysis With & Without Genetic Testing Among Patients Undergoing MTM

    ClinicalTrials.gov

    2016-09-20

    Cytochrome P450 CYP2D6 Enzyme Deficiency; Poor Metabolizer Due to Cytochrome P450 CYP2D6 Variant; Ultrarapid Metabolizer Due to Cytochrome P450 CYP2D6 Variant; Extensive Metabolizer Due to Cytochrome P450 CYP2D6 Variant; Cytochrome P450 CYP2C9 Enzyme Deficiency; Cytochrome P450 CYP2C19 Enzyme Deficiency; Drug Metabolism, Poor, CYP2D6-RELATED; Drug Metabolism, Poor, CYP2C19-RELATED; CYP2D6 Polymorphism

  10. Arthropod Genetics.

    ERIC Educational Resources Information Center

    Zumwalde, Sharon

    2000-01-01

    Introduces an activity on arthropod genetics that involves phenotype and genotype identification of the creature and the construction process. Includes a list of required materials and directions to build a model arthropod. (YDS)

  11. Genetic Discrimination

    MedlinePlus

    ... Medicine Working Group New Horizons and Research Patient Management Policy and Ethics Issues Quick Links for Patient Care ... genetic discrimination. April 25, 2007, Statement of Administration Policy, Office of Management and Budget Official Statement from the Office of ...

  12. Ciona Genetics

    PubMed Central

    Veeman, Michael T.; Chiba, Shota; Smith, William C.

    2010-01-01

    Ascidians, such as Ciona, are invertebrate chordates with simple embryonic body plans and small, relatively non-redundant genomes. Ciona genetics is in its infancy compared to many other model systems, but it provides a powerful method for studying this important vertebrate outgroup. Here we give basic methods for genetic analysis of Ciona, including protocols for controlled crosses both by natural spawning and by the surgical isolation of gametes; the identification and propagation of mutant lines; and strategies for positional cloning. PMID:21805273

  13. Genetics of autoimmune diseases: insights from population genetics.

    PubMed

    Ramos, Paula S; Shedlock, Andrew M; Langefeld, Carl D

    2015-11-01

    Human genetic diversity is the result of population genetic forces. This genetic variation influences disease risk and contributes to health disparities. Autoimmune diseases (ADs) are a family of complex heterogeneous disorders with similar underlying mechanisms characterized by immune responses against self. Collectively, ADs are common, exhibit gender and ethnic disparities, and increasing incidence. As natural selection is an important influence on human genetic variation, and immune function genes are enriched for signals of positive selection, it is thought that the prevalence of AD risk alleles seen in different population is partially the result of differing selective pressures (for example, due to pathogens). With the advent of high-throughput technologies, new analytical methodologies and large-scale projects, evidence for the role of natural selection in contributing to the heritable component of ADs keeps growing. This review summarizes the genetic regions associated with susceptibility to different ADs and concomitant evidence for selection, including known agents of selection exerting selective pressure in these regions. Examples of specific adaptive variants with phenotypic effects are included as an evidence of natural selection increasing AD susceptibility. Many of the complexities of gene effects in different ADs can be explained by population genetics phenomena. Integrating AD susceptibility studies with population genetics to investigate how natural selection has contributed to genetic variation that influences disease risk will help to identify functional variants and elucidate biological mechanisms. As such, the study of population genetics in human population holds untapped potential for elucidating the genetic causes of human disease and more rapidly focusing to personalized medicine.

  14. Genetics of autoimmune diseases: insights from population genetics

    PubMed Central

    Ramos, Paula S; Shedlock, Andrew M; Langefeld, Carl D

    2015-01-01

    Human genetic diversity is the result of population genetic forces. This genetic variation influences disease risk and contributes to health disparities. Autoimmune diseases (ADs) are a family of complex heterogeneous disorders with similar underlying mechanisms characterized by immune responses against self. Collectively, ADs are common, exhibit gender and ethnic disparities, and increasing incidence. As natural selection is an important influence on human genetic variation, and immune function genes are enriched for signals of positive selection, it is thought that the prevalence of AD risk alleles seen in different population is partially the result of differing selective pressures (for example, due to pathogens). With the advent of high-throughput technologies, new analytical methodologies and large-scale projects, evidence for the role of natural selection in contributing to the heritable component of ADs keeps growing. This review summarizes the genetic regions associated with susceptibility to different ADs and concomitant evidence for selection, including known agents of selection exerting selective pressure in these regions. Examples of specific adaptive variants with phenotypic effects are included as an evidence of natural selection increasing AD susceptibility. Many of the complexities of gene effects in different ADs can be explained by population genetics phenomena. Integrating AD susceptibility studies with population genetics to investigate how natural selection has contributed to genetic variation that influences disease risk will help to identify functional variants and elucidate biological mechanisms. As such, the study of population genetics in human population holds untapped potential for elucidating the genetic causes of human disease and more rapidly focusing to personalized medicine. PMID:26223182

  15. Chasing Mendel: five questions for personalized medicine.

    PubMed

    Joyner, Michael J; Prendergast, Franklyn G

    2014-06-01

    Ideas about personalized medicine are underpinned in part by evolutionary biology's Modern Synthesis. In this essay we link personalized medicine to the efforts of the early statistical investigators who quantified the heritability of human phenotype and then attempted to reconcile their observations with Mendelian genetics. As information about the heritability of common diseases was obtained, similar efforts were directed at understanding the genetic basis of disease phenotypes. These ideas were part of the rationale driving the Human Genome Project and subsequently the personalized medicine movement. In this context, we discuss: (1) the current state of the genotype-phenotype relationship in humans, (2) the common-disease-common-variant hypothesis, (3) the current ability of 'omic' information to inform clinical decision making, (4) emerging ideas about the therapeutic insight available from rare genetic variants, and (5) the social and behavioural barriers to the wider potential success of personalized medicine. There are significant gaps in knowledge as well as conceptual, intellectual, and philosophical limitations in each of these five areas. We then provide specific recommendations to mitigate these limitations and close by asking if it is time for the biomedical research community to 'stop chasing Mendel?'

  16. Routes for breaching and protecting genetic privacy

    PubMed Central

    Erlich, Yaniv; Narayanan, Arvind

    2014-01-01

    We are entering an era of ubiquitous genetic information for research, clinical care and personal curiosity. Sharing these datasets is vital for progress in biomedical research. However, one growing concern is the ability to protect the genetic privacy of the data originators. Here, we present an overview of genetic privacy breaching strategies. We outline the principles of each technique, point to the underlying assumptions, and assess its technological complexity and maturation. We then review potential mitigation methods for privacy-preserving dissemination of sensitive data and highlight different cases that are relevant to genetic applications. PMID:24805122

  17. Genetic testing and mental health: the model of Huntington disease.

    PubMed

    Williams, J K; Schutte, D L

    2000-01-01

    Genetic aspects of mental health disorders are being identified through human genome and family research. Gene discovery makes diagnostic and presymptomatic testing possible. The discovery of a gene mutation for Huntington Disease (HD) enables at-risk persons to request presymptomatic genetic testing. When HD genetic testing is offered through HD testing centers, a multi-visit protocol is followed in which education and counseling are provided for persons considering the option to have HD gene testing. A case study illustrates the clinical and ethical issues regarding privacy and disclosure as well as the personal and family consequences of gene mutation knowledge. Analysis of the impact of genetic knowledge on persons being tested for HD provides a model for the integration of emerging genetic information into mental health nursing practice for other mental health disorders.

  18. The heritability of personality is not always 50%: gene-environment interactions and correlations between personality and parenting.

    PubMed

    Krueger, Robert F; South, Susan; Johnson, Wendy; Iacono, William

    2008-12-01

    Twin studies of personality are consistent in attributing approximately half of the variance in personality to genetic effects, with the remaining variance attributed to environments that make people within the same families different. Such conclusions, however, are based on quantitative models of human individual differences that estimate genetic and environmental contributions as constants for entire populations. Recent advances in statistical modeling allow for the possibility of estimating genetic and environmental contributions contingent on other variables, allowing the quantification of phenomena that have traditionally been characterized as gene-environment interaction and correlation. We applied these newer models to understand how adolescents' descriptions of their relationships with their parents might change or moderate the impact of genetic and environmental factors on personality. We documented notable moderation in the domains of positive and negative emotionality, with parental relationships acting both to enhance and diminish both genetic and environmental effects. We discuss how genetic and environmental contributions to personality might be more richly conceptualized as dynamic systems of gene-environment interplay--systems that are not captured by classical concepts, such as the overall heritability of personality.

  19. Schizotypal personality disorder

    MedlinePlus

    ... these beliefs so strongly that they have difficulty forming and keeping close relationships. People with SPD may also have depression. A second personality disorder, such as paranoid personality disorder , is also ...

  20. Unlocking Personality Type.

    ERIC Educational Resources Information Center

    Tieger, Paul D.

    2002-01-01

    This article examines some of the intricacies of personality types and their effect on career choices. Proposes that knowing students' Myers-Briggs personality types can help school counselors guide them down the right career path. (GCP)

  1. Classification of personality disorder.

    PubMed

    Tyrer, P; Alexander, J

    1979-08-01

    An interview schedule was used to record the personality traits of 130 psychiatric patients, 65 with a primary clinical diagnosis of personality disorder and 65 with other diagnoses. The results were analysed by factor analysis and three types of cluster analysis. Factor analysis showed a similar structure of personality variables in both groups of patients, supporting the notion that personality disorders differ only in degree from the personalities of other psychiatric patients. Cluster analysis revealed five discrete categories; sociopathic, passive-dependent, anankastic, schizoid and a non-personality-disordered group. Of all the personality-disordered patients 63 per cent fell into the passive-dependent or sociopathic category. The results suggest that the current classification of personality disorder could be simplified. PMID:497619

  2. Genetic Causes of Recurrent Pregnancy Loss.

    PubMed

    Page, Jessica M; Silver, Robert M

    2016-09-01

    Pregnancy loss is one of the most common obstetric complications, affecting over 30% of conceptions. A considerable proportion of losses are due to genetic abnormalities. Indeed, over 50% of early pregnancy losses have been associated with chromosomal abnormalities. Most are due to de novo nondisjunctional events but balanced parental translocations are responsible for a small but important percentage of genetic abnormalities in couples with recurrent pregnancy loss. In the past, assessment of genetic abnormalities was limited to karyotype performed on placental or fetal tissue. However, advances in molecular genetic technology now provide rich genetic information about additional genetic causes of and risk factors for pregnancy loss. In addition, the use of preimplantation genetic testing in couples undergoing in vitro fertilization has the potential to decrease the risk of pregnancy loss from genetic abnormalities. To date, efficacy is uncertain but considerable potential remains. This chapter will review what is known about genetic causes of recurrent pregnancy loss with a focus on novel causes and potential treatments. Remaining knowledge gaps will be highlighted. PMID:27414972

  3. Behavior genetics and postgenomics.

    PubMed

    Charney, Evan

    2012-10-01

    The science of genetics is undergoing a paradigm shift. Recent discoveries, including the activity of retrotransposons, the extent of copy number variations, somatic and chromosomal mosaicism, and the nature of the epigenome as a regulator of DNA expressivity, are challenging a series of dogmas concerning the nature of the genome and the relationship between genotype and phenotype. According to three widely held dogmas, DNA is the unchanging template of heredity, is identical in all the cells and tissues of the body, and is the sole agent of inheritance. Rather than being an unchanging template, DNA appears subject to a good deal of environmentally induced change. Instead of identical DNA in all the cells of the body, somatic mosaicism appears to be the normal human condition. And DNA can no longer be considered the sole agent of inheritance. We now know that the epigenome, which regulates gene expressivity, can be inherited via the germline. These developments are particularly significant for behavior genetics for at least three reasons: First, epigenetic regulation, DNA variability, and somatic mosaicism appear to be particularly prevalent in the human brain and probably are involved in much of human behavior; second, they have important implications for the validity of heritability and gene association studies, the methodologies that largely define the discipline of behavior genetics; and third, they appear to play a critical role in development during the perinatal period and, in particular, in enabling phenotypic plasticity in offspring. I examine one of the central claims to emerge from the use of heritability studies in the behavioral sciences, the principle of minimal shared maternal effects, in light of the growing awareness that the maternal perinatal environment is a critical venue for the exercise of adaptive phenotypic plasticity. This consideration has important implications for both developmental and evolutionary biology.

  4. Cocaine addiction and personality: a mathematical model.

    PubMed

    Caselles, Antonio; Micó, Joan C; Amigó, Salvador

    2010-05-01

    The existence of a close relation between personality and drug consumption is recognized, but the corresponding causal connection is not well known. Neither is it well known whether personality exercises an influence predominantly at the beginning and development of addiction, nor whether drug consumption produces changes in personality. This paper presents a dynamic mathematical model of personality and addiction based on the unique personality trait theory (UPTT) and the general modelling methodology. This model attempts to integrate personality, the acute effect of drugs, and addiction. The UPTT states the existence of a unique trait of personality called extraversion, understood as a dimension that ranges from impulsive behaviour and sensation-seeking (extravert pole) to fearful and anxious behaviour (introvert pole). As a consequence of drug consumption, the model provides the main patterns of extraversion dynamics through a system of five coupled differential equations. It combines genetic extraversion, as a steady state, and dynamic extraversion in a unique variable measured on the hedonic scale. The dynamics of this variable describes the effects of stimulant drugs on a short-term time scale (typical of the acute effect); while its mean time value describes the effects of stimulant drugs on a long-term time scale (typical of the addiction effect). This understanding may help to develop programmes of prevention and intervention in drug misuse. PMID:20030966

  5. Specific Genetic Disorders

    MedlinePlus

    ... of Genetic Terms Definitions for genetic terms Specific Genetic Disorders Many human diseases have a genetic component. ... Condition in an Adult The Undiagnosed Diseases Program Genetic Disorders Achondroplasia Alpha-1 Antitrypsin Deficiency Antiphospholipid Syndrome ...

  6. Methods of Studying Persons.

    ERIC Educational Resources Information Center

    Heinemann, Allen W.; Shontz, Franklin C.

    Conventional research strategies typically emphasize behavior-determining tendencies so strongly that the person as a whole is ignored. Research strategies for studying whole persons focus on symbolic structures, formulate specific questions in advance, study persons one at a time, use individualized measures, and regard participants as expert…

  7. Attachment and Personality Disorders

    ERIC Educational Resources Information Center

    Sinha, Preeti; Sharan, Pratap

    2007-01-01

    Personality disorders (PDs) arise from core psychopathology of interpersonal relationships and understanding of self and others. The distorted representations of self and others, as well as unhealthy relationships that characterize persons with various PDs, indicate the possibility that persons with PDs have insecure attachment. Insecure…

  8. Personality and Sexual Orientation

    ERIC Educational Resources Information Center

    Harris, Charles M.

    2004-01-01

    Bases for individual acceptance and cultural integration of gays and lesbians were investigated by assessing qualities of personality among four participant groups: Heterosexual females, heterosexual males, homosexual females, and homosexual males. Personality was operationally defined as personal qualities and characteristics associated with…

  9. Schizotypal personality disorder: a current review.

    PubMed

    Rosell, Daniel R; Futterman, Shira E; McMaster, Antonia; Siever, Larry J

    2014-07-01

    The study of schizotypal personality disorder (SPD) is important clinically, as it is understudied, challenging to treat, often under-recognized or misdiagnosed, and associated with significant functional impairment. SPD also represents an intermediate schizophrenia-spectrum phenotype, and therefore, can provide a better understanding of the genetics, pathogenesis, and treatment of related psychotic illnesses. In this review we discuss recent findings of SPD related to epidemiology and functional impairment, heritability and genetics, working memory and cognitive impairments, social-affective disturbances, and neurobiology. Additionally, we examine the challenges associated with treating patients with SPD, as well as clinical recommendations. Finally, we address future directions and areas in need of further exploration.

  10. Protection of genetic data in medical genetics: a legal analysis in the European context.

    PubMed

    Romeo-Malanda, Sergio; Nicol, Dianne

    2007-01-01

    This article is based in three ideas, namely: 1. All the questions in the field of "privacy" and "confidentiality" derived from genetic tests only must be taken into account if we deal with "personal data". 2. When we are dealing with personal genetic data, two aspects must be especially guaranteed: a) the freedom and autonomy of the individual; and b) the duty of secrecy in order to protect the privacy of the person. 3. Some conflicts can appear between these two aspects and we have to deal with them. The author analyses the supranational European legislation referring to this topic, according to with, genetic privacy must be guarantee. He also notes how Genetic medicine can give rise to a variety of conflicts of interests, and points out how the different legal texts object of study deal with this issue.

  11. A tiered-layered-staged model for informed consent in personal genome testing.

    PubMed

    Bunnik, Eline M; Janssens, A Cecile J W; Schermer, Maartje H N

    2013-06-01

    In recent years, developments in genomics technologies have led to the rise of commercial personal genome testing (PGT): broad genome-wide testing for multiple diseases simultaneously. While some commercial providers require physicians to order a personal genome test, others can be accessed directly. All providers advertise directly to consumers and offer genetic risk information about dozens of diseases in one single purchase. The quantity and the complexity of risk information pose challenges to adequate pre-test and post-test information provision and informed consent. There are currently no guidelines for what should constitute informed consent in PGT or how adequate informed consent can be achieved. In this paper, we propose a tiered-layered-staged model for informed consent. First, the proposed model is tiered as it offers choices between categories of diseases that are associated with distinct ethical, personal or societal issues. Second, the model distinguishes layers of information with a first layer offering minimal, indispensable information that is material to all consumers, and additional layers offering more detailed information made available upon request. Finally, the model stages informed consent as a process by feeding information to consumers in each subsequent stage of the process of undergoing a test, and by accommodating renewed consent for test result updates, resulting from the ongoing development of the science underlying PGT. A tiered-layered-staged model for informed consent with a focus on the consumer perspective can help overcome the ethical problems of information provision and informed consent in direct-to-consumer PGT. PMID:23169494

  12. Factors that motivate people to undergo cosmetic surgery.

    PubMed

    Furnham, Adrian; Levitas, James

    2012-01-01

    A sample of 204 British participants completed a questionnaire that assessed their attitude toward cosmetic surgery as well as measures of self-esteem, life satisfaction, self-rated physical attractiveness, religiosity and media consumption. Two factors emerged from a factor analysis of their attitudes toward surgery: likelihood to undergo, and benefits of undergoing, cosmetic surgery. Females with low self-esteem, low life satisfaction, low self-rated attractiveness and little religious beliefs who were heavy television watchers reported a greater likelihood of undergoing cosmetic surgery. Stepwise regression analysis with the two attitude factors as criterion variables showed two major predictors for likelihood: religiousness and low self-esteem, and four major predictors for benefit: religousness, media consumption, life satisfaction and sex. The role of religion is considered in this context. PMID:24294026

  13. Factors that motivate people to undergo cosmetic surgery

    PubMed Central

    Furnham, Adrian; Levitas, James

    2012-01-01

    A sample of 204 British participants completed a questionnaire that assessed their attitude toward cosmetic surgery as well as measures of self-esteem, life satisfaction, self-rated physical attractiveness, religiosity and media consumption. Two factors emerged from a factor analysis of their attitudes toward surgery: likelihood to undergo, and benefits of undergoing, cosmetic surgery. Females with low self-esteem, low life satisfaction, low self-rated attractiveness and little religious beliefs who were heavy television watchers reported a greater likelihood of undergoing cosmetic surgery. Stepwise regression analysis with the two attitude factors as criterion variables showed two major predictors for likelihood: religiousness and low self-esteem, and four major predictors for benefit: religousness, media consumption, life satisfaction and sex. The role of religion is considered in this context. PMID:24294026

  14. Prevention of Orthopaedic Implant Infection in Patients Undergoing Dental Procedures.

    PubMed

    Watters, William; Rethman, Michael P; Hanson, Nicholas Buck; Abt, Elliot; Anderson, Paul A; Carroll, Karen C; Futrell, Harry C; Garvin, Kevin; Glenn, Stephen O; Hellstein, John; Hewlett, Angela; Kolessar, David; Moucha, Calin; O'Donnell, Richard J; O'Toole, John E; Osmon, Douglas R; Evans, Richard Parker; Rinella, Anthony; Steinberg, Mark J; Goldberg, Michael; Ristic, Helen; Boyer, Kevin; Sluka, Patrick; Martin, William Robert; Cummins, Deborah S; Song, Sharon; Woznica, Anne; Gross, Leeaht

    2013-03-01

    The Prevention of Orthopaedic Implant Infection in Patients Undergoing Dental Procedures evidence-based clinical practice guideline was codeveloped by the American Academy of Orthopaedic Surgeons (AAOS) and the American Dental Association. This guideline replaces the previous AAOS Information Statement, "Antibiotic Prophylaxis in Bacteremia in Patients With Joint Replacement," published in 2009. Based on the best current evidence and a systematic review of published studies, three recommendations have been created to guide clinical practice in the prevention of orthopaedic implant infections in patients undergoing dental procedures. The first recommendation is graded as Limited; this recommendation proposes that the practitioner consider changing the long-standing practice of routinely prescribing prophylactic antibiotic for patients with orthopaedic implants who undergo dental procedures. The second, graded as Inconclusive, addresses the use of oral topical antimicrobials in the prevention of periprosthetic joint infections. The third recommendation, a Consensus statement, addresses the maintenance of good oral hygiene.

  15. Personalized professional content recommendation

    DOEpatents

    Xu, Songhua

    2015-10-27

    A personalized content recommendation system includes a client interface configured to automatically monitor a user's information data stream transmitted on the Internet. A hybrid contextual behavioral and collaborative personal interest inference engine resident to a non-transient media generates automatic predictions about the interests of individual users of the system. A database server retains the user's personal interest profile based on a plurality of monitored information. The system also includes a server programmed to filter items in an incoming information stream with the personal interest profile and is further programmed to identify only those items of the incoming information stream that substantially match the personal interest profile.

  16. Multimodal Person Identification

    NASA Astrophysics Data System (ADS)

    Pnevmatikakis, Aristodemos; Ekenel, Hazım K.; Barras, Claude; Hernando, Javier

    Person identification is of paramount importance in security, surveillance, human-computer interfaces, and smart spaces. All these applications attempt the recognition of people based on audiovisual data. The way the systems collect these data divides them into two categories: Near-field systems: Both the sensor and the person to be identified focus on each other. Far-field systems: The sensors monitor an entire space in which the person appears, occasionally collecting useful data (face and/or speech) about that person. Also, the person pays no attention to the sensors and is possibly unaware of their existence.

  17. [Genetic Bases of Human Comorbidity].

    PubMed

    Puzyrev, V P

    2015-04-01

    In this review, the development of ideas focused on the phenomenon of disease combination (comorbidity) in humans is discussed. The genetic bases of the three forms of the phenomenon, comorbidity (syntropias), inverse comorbidity (dystropias), and comorbidity of Mendelian and multifactorial diseases, are analyzed. The results of personal genome-wide association studies of the genetic risk profile that may predispose an individual to cardiovascular disease continuum (CDC), including coronary heart disease, type 2 diabetes, hypertension, and hypercholesterolemia (CDC syntropy), as well as the results of bioinformatic analysis of common genes and the networks of molecular interactions for two (bronchial asthma and pulmonary tuberculosis) diseases rarely found in one patient (dystropy), are presented. The importance of the diseasome and network medicine concepts in the study of comorbidity is emphasized. Promising areas in genomic studies of comorbidities for disease classification and the development of personalized medicine are designated.

  18. [Genetic Bases of Human Comorbidity].

    PubMed

    Puzyrev, V P

    2015-04-01

    In this review, the development of ideas focused on the phenomenon of disease combination (comorbidity) in humans is discussed. The genetic bases of the three forms of the phenomenon, comorbidity (syntropias), inverse comorbidity (dystropias), and comorbidity of Mendelian and multifactorial diseases, are analyzed. The results of personal genome-wide association studies of the genetic risk profile that may predispose an individual to cardiovascular disease continuum (CDC), including coronary heart disease, type 2 diabetes, hypertension, and hypercholesterolemia (CDC syntropy), as well as the results of bioinformatic analysis of common genes and the networks of molecular interactions for two (bronchial asthma and pulmonary tuberculosis) diseases rarely found in one patient (dystropy), are presented. The importance of the diseasome and network medicine concepts in the study of comorbidity is emphasized. Promising areas in genomic studies of comorbidities for disease classification and the development of personalized medicine are designated. PMID:26087624

  19. Genetic haemochromatosis.

    PubMed

    Rosalki, S B

    2002-10-01

    Genetic haemochromatosis is an autosomal recessive inherited disorder of iron metabolism due to mutation of the HFE gene. In homozygotes (1 in 300 of the UK population), this results in excessive iron absorption from the gut and its deposition in major body organs. This may give rise to fatigue, arthritis, cardiac failure, diabetes mellitus, hepatic cirrhosis or skin pigmentation, occurring predominantly in males over 50 years of age. Identification uses measurement of serum iron, iron-binding capacity (or transferrin) and ferritin, together with initial or confirmatory genetic DNA studies.

  20. Using Genetic Technologies To Reduce, Rather Than Widen, Health Disparities.

    PubMed

    Smith, Caren E; Fullerton, Stephanie M; Dookeran, Keith A; Hampel, Heather; Tin, Adrienne; Maruthur, Nisa M; Schisler, Jonathan C; Henderson, Jeffrey A; Tucker, Katherine L; Ordovás, José M

    2016-08-01

    Evidence shows that both biological and nonbiological factors contribute to health disparities. Genetics, in particular, plays a part in how common diseases manifest themselves. Today, unprecedented advances in genetically based diagnoses and treatments provide opportunities for personalized medicine. However, disadvantaged groups may lack access to these advances, and treatments based on research on non-Hispanic whites might not be generalizable to members of minority groups. Unless genetic technologies become universally accessible, existing disparities could be widened. Addressing this issue will require integrated strategies, including expanding genetic research, improving genetic literacy, and enhancing access to genetic technologies among minority populations in a way that avoids harms such as stigmatization. PMID:27503959

  1. Interdisciplinary modular teaching for patients undergoing progenitor cell transplantation.

    PubMed

    Kemp, Jackie; Dickerson, Jill

    2002-01-01

    Patient-education information provided to patients undergoing progenitor cell transplantation (PCT) is complex. Patients' and caregivers' inability to process this information and apply principles of self-care can result in poor outcomes. An interdisciplinary team developed a three-part modular teaching program and documentation tool to address the complex informational needs of patients undergoing PCT. The modules were designed to reflect information relative to the three phases of PCT: pretransplantation, transplantation, and post-transplantation. The structured content of the documentation tool allows for consistent documentation that systematically reflects the content of the patient-education modules.

  2. Electrochemical characterization of the tendency of coals to undergo autooxidation

    SciTech Connect

    Spitsyna, N.G.; Kamneva, A.I.; Nikitin, K.N.

    1984-01-01

    Questions of the rate of the electrochemical generation of hydrogen peroxide and its decomposition in coals during their autooxidation are considered. A correlation has been found between the results obtained by the traditional methods of determining the tendency of coals to undergo autooxidation, on the one hand, and the results of a determination of the electrochemical activities of coals in the process of oxygen ionization and the rate of decomposition of hydrogen peroxide, on the other hand. This permits a recommendation of the use of electrochemical methods for characterizing the tendency of coals to undergo autooxidation.

  3. Parameter inference for biochemical systems that undergo a Hopf bifurcation.

    PubMed

    Kirk, Paul D W; Toni, Tina; Stumpf, Michael P H

    2008-07-01

    The increasingly widespread use of parametric mathematical models to describe biological systems means that the ability to infer model parameters is of great importance. In this study, we consider parameter inferability in nonlinear ordinary differential equation models that undergo a bifurcation, focusing on a simple but generic biochemical reaction model. We systematically investigate the shape of the likelihood function for the model's parameters, analyzing the changes that occur as the model undergoes a Hopf bifurcation. We demonstrate that there exists an intrinsic link between inference and the parameters' impact on the modeled system's dynamical stability, which we hope will motivate further research in this area.

  4. Factors affecting postoperative blood loss in children undergoing cardiac surgery.

    PubMed

    Faraoni, David; Van der Linden, Philippe

    2014-01-01

    We hypothesized that the influence of cyanotic disease on postoperative blood loss is closely related to age in children undergoing cardiac surgery. Here, we demonstrate that the presence of a cyanotic disease is associated with increased postoperative blood loss in children aged 1 to 6 months. Children with cyanotic disease and aged<1 month who received fresh frozen plasma during cardiopulmonary bypass had less postoperative blood loss and higher maximal clot firmness on FIBTEM than cyanotic children from all other groups. Additional studies are needed to define optimal pathophysiology-based management in children undergoing cardiac surgery. PMID:24512988

  5. Sociogenomic Personality Psychology

    PubMed Central

    Roberts, Brent W.; Jackson, Joshua J.

    2009-01-01

    In this article, we address a number of issues surrounding biological models of personality traits. Most traditional and many contemporary biological models of personality traits assume that biological systems underlying personality traits are causal and immutable. In contrast, sociogenomic biology, which we introduce to readers in this article, directly contradicts the widely held assumption that something that is biological, heritable, or temperamental, is unchangeable. We provide examples of how seemingly unchanging biological systems, such as DNA, are both dependent on environments for elicitation and can be modified by environmental changes. Finally, we synthesize sociogenomic biology with personality psychology in a model of personality traits that integrates this more modern perspective on biology, physiology, and environment that we term sociogenomic personality psychology. We end the article with a discussion of the future directions of sociogenomic personality psychology. PMID:19012657

  6. Personality change in dementia.

    PubMed

    Aitken, L; Simpson, S; Burns, A

    1999-09-01

    This study examined the prevalence and nature of personality change in 99 patients with dementia of the Alzheimer type and multi-infarct dementia. Personality was assessed using an informant-rated inventory of the patient's personality before and after the onset of dementia, with the difference equating to a change in personality. Personality characteristics were related to the patients' age and sex, duration of illness, degree of cognitive impairment, the presence of a grasp reflex, and extrapyramidal signs. Personality change was found to be almost universal and negative in nature and was particularly associated with severity of cognitive impairment, longer duration of illness, and neurological signs. The findings reflect those from other studies and emphasize the biological basis of personality changes in dementia.

  7. Sociogenomic personality psychology.

    PubMed

    Roberts, Brent W; Jackson, Joshua J

    2008-12-01

    In this article, we address a number of issues surrounding biological models of personality traits. Most traditional and many contemporary biological models of personality traits assume that biological systems underlying personality traits are causal and immutable. In contrast, sociogenomic biology, which we introduce to readers in this article, directly contradicts the widely held assumption that something that is biological, heritable, or temperamental, is unchangeable. We provide examples of how seemingly unchanging biological systems, such as DNA, are both dependent on environments for elicitation and can be modified by environmental changes. Finally, we synthesize sociogenomic biology with personality psychology in a model of personality traits that integrates this more modern perspective on biology, physiology, and environment that we term sociogenomic personality psychology. We end the article with a discussion of the future directions of sociogenomic personality psychology.

  8. Genetic correlates of the evolving primate brain

    PubMed Central

    Vallender, Eric J.

    2012-01-01

    The tremendous shifts in the size, structure, and function of the brain during primate evolution are ultimately caused by changes at the genetic level. Understanding what these changes are and how they effect the phenotypic changes observed lies at the heart of understanding evolutionary change. This chapter focuses on understanding the genetic basis of primate brain evolution, considering the substrates and mechanisms through which genetic change occurs. It also discusses the implications that our current understandings and tools have for what we have already discovered and where our studies will head in the future. While genetic and genomic studies have identified many regions undergoing positive selection during primate evolution, the findings are certainly not exhaustive and functional relevance remains to be confirmed. Nevertheless, a strong foundation has been built upon which future studies will emerge. PMID:22230621

  9. [Ethical issues in personal genome research].

    PubMed

    Kato, Kazuto; Minari, Jusaku

    2013-03-01

    The rapid expansion of techniques for studying human genomics has remarkably changed research and practice. It is expected that more progress will be made in the field of medical and biological research owing to the technological advances. Genomics researchers collect human genetic material, including DNA and cells, from a large number of individuals and carry out "personal genome analysis"; as a result, new types of ethical, legal, and social issues (ELSI) have arisen, including issues such as informed consent procedures, data sharing, protection of genetic information, and return of research results. To address these issues, many large research projects have established specialist groups that are devoted to manage ELSI of their research. The guidelines for genomics research set by the government are also expected to be revised accordingly. In this paper, we present an overview of ELSI of personal genome research and discuss necessary measures to tackle these issues.

  10. Statistical Enrichment of Epigenetic States Around Triplet Repeats that Can Undergo Expansions.

    PubMed

    Essebier, Alexandra; Vera Wolf, Patricia; Cao, Minh Duc; Carroll, Bernard J; Balasubramanian, Sureshkumar; Bodén, Mikael

    2016-01-01

    More than 30 human genetic diseases are linked to tri-nucleotide repeat expansions. There is no known mechanism that explains repeat expansions in full, but changes in the epigenetic state of the associated locus has been implicated in the disease pathology for a growing number of examples. A comprehensive comparative analysis of the genomic features associated with diverse repeat expansions has been lacking. Here, in an effort to decipher the propensity of repeats to undergo expansion and result in a disease state, we determine the genomic coordinates of tri-nucleotide repeat tracts at base pair resolution and computationally establish epigenetic profiles around them. Using three complementary statistical tests, we reveal that several epigenetic states are enriched around repeats that are associated with disease, even in cells that do not harbor expansion, relative to a carefully stratified background. Analysis of over one hundred cell types reveals that epigenetic states generally tend to vary widely between genic regions and cell types. However, there is qualified consistency in the epigenetic signatures of repeats associated with disease suggesting that changes to the chromatin and the DNA around an expanding repeat locus are likely to be similar. These epigenetic signatures may be exploited further to develop models that could explain the propensity of repeats to undergo expansions. PMID:27013954

  11. A transversely isotropic viscoelastic constitutive equation for brainstem undergoing finite deformation.

    PubMed

    Ning, Xinguo; Zhu, Qiliang; Lanir, Yoram; Margulies, Susan S

    2006-12-01

    The objective of this study was to define the constitutive response of brainstem undergoing finite shear deformation. Brainstem was characterized as a transversely isotropic viscoelastic material and the material model was formulated for numerical implementation. Model parameters were fit to shear data obtained in porcine brainstem specimens undergoing finite shear deformation in three directions: parallel, perpendicular, and cross sectional to axonal fiber orientation and determined using a combined approach of finite element analysis (FEA) and a genetic algorithm (GA) optimizing method. The average initial shear modulus of brainstem matrix of 4-week old pigs was 12.7 Pa, and therefore the brainstem offers little resistance to large shear deformations in the parallel or perpendicular directions, due to the dominant contribution of the matrix in these directions. The fiber reinforcement stiffness was 121.2 Pa, indicating that brainstem is anisotropic and that axonal fibers have an important role in the cross-sectional direction. The first two leading relative shear relaxation moduli were 0.8973 and 0.0741, respectively, with corresponding characteristic times of 0.0047 and 1.4538 s, respectively, implying rapid relaxation of shear stresses. The developed material model and parameter estimation technique are likely to find broad applications in neural and orthopaedic tissues. PMID:17154695

  12. The genetic basis of complex human behaviors.

    PubMed

    Plomin, R; Owen, M J; McGuffin, P

    1994-06-17

    Quantitative genetic research has built a strong case for the importance of genetic factors in many complex behavioral disorders and dimensions in the domains of psychopathology, personality, and cognitive abilities. Quantitative genetics can also provide an empirical guide and a conceptual framework for the application of molecular genetics. The success of molecular genetics in elucidating the genetic basis of behavioral disorders has largely relied on a reductionistic one gene, one disorder (OGOD) approach in which a single gene is necessary and sufficient to develop a disorder. In contrast, a quantitative trait loci (QTL) approach involves the search for multiple genes, each of which is neither necessary nor sufficient for the development of a trait. The OGOD and QTL approaches have both advantages and disadvantages for identifying genes that affect complex human behaviors.

  13. A Personality Disorders: Schizotypal, Schizoid and Paranoid Personality Disorders in Childhood and Adolescence

    PubMed Central

    Esterberg, Michelle L.; Goulding, Sandra M.

    2010-01-01

    Cluster A personality disorders (PD), including schizotypal personality disorder (SPD), paranoid personality disorder (PPD), and schizoid PD, are marked by odd and eccentric behaviors, and are grouped together because of common patterns in symptomatology as well as shared genetic and environmental risk factors. The DSM-IV-TR describes personality disorders as representing stable and enduring patterns of maladaptive traits, and much of what is understood about Cluster A personality disorders in particular stems from research with adult populations. Less in known about these disorders in children and adolescents, and controversy remains regarding diagnosis of personality disorders in general in youth. The current paper reviews the available research on Cluster A personality disorders in childhood and adolescence; specifically, we discuss differentiating between the three disorders and distinguishing them from other syndromes, measuring Cluster A disorders in youth, and the nature and course of these disorders throughout childhood and adolescence. We also present recent longitudinal data from a sample of adolescents diagnosed with Cluster A personality disorders from our research laboratory, and suggest directions for future research in this important but understudied area. PMID:21116455

  14. A Personality Disorders: Schizotypal, Schizoid and Paranoid Personality Disorders in Childhood and Adolescence.

    PubMed

    Esterberg, Michelle L; Goulding, Sandra M; Walker, Elaine F

    2010-12-01

    Cluster A personality disorders (PD), including schizotypal personality disorder (SPD), paranoid personality disorder (PPD), and schizoid PD, are marked by odd and eccentric behaviors, and are grouped together because of common patterns in symptomatology as well as shared genetic and environmental risk factors. The DSM-IV-TR describes personality disorders as representing stable and enduring patterns of maladaptive traits, and much of what is understood about Cluster A personality disorders in particular stems from research with adult populations. Less in known about these disorders in children and adolescents, and controversy remains regarding diagnosis of personality disorders in general in youth. The current paper reviews the available research on Cluster A personality disorders in childhood and adolescence; specifically, we discuss differentiating between the three disorders and distinguishing them from other syndromes, measuring Cluster A disorders in youth, and the nature and course of these disorders throughout childhood and adolescence. We also present recent longitudinal data from a sample of adolescents diagnosed with Cluster A personality disorders from our research laboratory, and suggest directions for future research in this important but understudied area.

  15. Genetic Disorders

    MedlinePlus

    ... of pregnancy loss. How do I know which tests to have? Your health care provider or a genetic counselor can discuss all of the testing options with you and help you decide based on your individual risk factors. Do I have to have these tests? Whether you want to be tested is a ...

  16. Genetic Recombination

    ERIC Educational Resources Information Center

    Whitehouse, H. L. K.

    1973-01-01

    Discusses the mechanisms of genetic recombination with particular emphasis on the study of the fungus Sordaria brevicollis. The study of recombination is facilitated by the use of mutants of this fungus in which the color of the ascospores is affected. (JR)

  17. [Concentration of fluoride in mixed saliva of patients with end-stage renal disease undergoing renal replacement therapy].

    PubMed

    Gorbaczewski, Andrzej; Buczkowska-Radlińska, Jadwiga; Chlubek, Dariusz; Noceń, Iwona; Samujło, Dorota; Trusewicz, Matylda

    2004-01-01

    This study was carried out on 48 patients with ESRD undergoing hemodialysis treatment (29 males and 19 females, mean age 50.8 years) and renal transplantation (15 females and 33 males, mean age 42.2 years). The results were compared with a group of 44 healthy persons (23 females and 21 males, mean age 49.5 years). The aim of our investigation was to examine the content of fluoride in the mixed unstimulated saliva of the patients undergoing renal replacement therapy and in the control group of healthy persons. We studied the influence of hemodialysis on saliva fluoride levels. Saliva samples were collected by the spitting method according to Navazesh. Samples were collected before and after hemodialysis session and once in graft recipients and controls. Fluoride concentrations were determined with an Orion fluoroselective electrode model 96-09. The fluoride level in healthy persons was 4.92 +/- 2.30 micromol/L. Before hemodialysis, the mean fluoride level was 9.63 +/- 3.90 micromol/L and decreased significantly to 7.52 +/- 2.71 micromol/L after hemodialysis (p < 0.0001). Saliva content of fluorides in patients before and after hemodialysis was significantly higher than in healthy subjects and kidney graft recipients (p < 0.0001). There was no significant difference in fluoride concentration between patients after kidney transplantation and controls. The results suggest the need for individual fluoride supplementation in chronically hemodialysed patients.

  18. Merging second-person and first-person neuroscience.

    PubMed

    Longo, Matthew R; Tsakiris, Manos

    2013-08-01

    Schilbach et al. contrast second-person and third-person approaches to social neuroscience. We discuss relations between second-person and first-person approaches, arguing that they cannot be studied in isolation. Contingency is central for converging first- and second-person approaches. Studies of embodiment show how contingencies scaffold first-person perspective and how the transition from a third- to a second-person perspective fundamentally involves first-person contributions. PMID:23883758

  19. Personality Polygenes, Positive Affect, and Life Satisfaction.

    PubMed

    Weiss, Alexander; Baselmans, Bart M L; Hofer, Edith; Yang, Jingyun; Okbay, Aysu; Lind, Penelope A; Miller, Mike B; Nolte, Ilja M; Zhao, Wei; Hagenaars, Saskia P; Hottenga, Jouke-Jan; Matteson, Lindsay K; Snieder, Harold; Faul, Jessica D; Hartman, Catharina A; Boyle, Patricia A; Tiemeier, Henning; Mosing, Miriam A; Pattie, Alison; Davies, Gail; Liewald, David C; Schmidt, Reinhold; De Jager, Philip L; Heath, Andrew C; Jokela, Markus; Starr, John M; Oldehinkel, Albertine J; Johannesson, Magnus; Cesarini, David; Hofman, Albert; Harris, Sarah E; Smith, Jennifer A; Keltikangas-Järvinen, Liisa; Pulkki-Råback, Laura; Schmidt, Helena; Smith, Jacqui; Iacono, William G; McGue, Matt; Bennett, David A; Pedersen, Nancy L; Magnusson, Patrik K E; Deary, Ian J; Martin, Nicholas G; Boomsma, Dorret I; Bartels, Meike; Luciano, Michelle

    2016-10-01

    Approximately half of the variation in wellbeing measures overlaps with variation in personality traits. Studies of non-human primate pedigrees and human twins suggest that this is due to common genetic influences. We tested whether personality polygenic scores for the NEO Five-Factor Inventory (NEO-FFI) domains and for item response theory (IRT) derived extraversion and neuroticism scores predict variance in wellbeing measures. Polygenic scores were based on published genome-wide association (GWA) results in over 17,000 individuals for the NEO-FFI and in over 63,000 for the IRT extraversion and neuroticism traits. The NEO-FFI polygenic scores were used to predict life satisfaction in 7 cohorts, positive affect in 12 cohorts, and general wellbeing in 1 cohort (maximal N = 46,508). Meta-analysis of these results showed no significant association between NEO-FFI personality polygenic scores and the wellbeing measures. IRT extraversion and neuroticism polygenic scores were used to predict life satisfaction and positive affect in almost 37,000 individuals from UK Biobank. Significant positive associations (effect sizes <0.05%) were observed between the extraversion polygenic score and wellbeing measures, and a negative association was observed between the polygenic neuroticism score and life satisfaction. Furthermore, using GWA data, genetic correlations of -0.49 and -0.55 were estimated between neuroticism with life satisfaction and positive affect, respectively. The moderate genetic correlation between neuroticism and wellbeing is in line with twin research showing that genetic influences on wellbeing are also shared with other independent personality domains. PMID:27546527

  20. Tunisia: communities and community genetics.

    PubMed

    Chaabouni-Bouhamed, Habiba

    2008-01-01

    The population of Tunisia rose from 2.7 millions before the Second World War to 10,074,951 in 2005. Modern Tunisians are the descendents of indigenous Berbers and of people from various civilizations that were assimilated into the population over the centuries. Since its independence in 1956, Tunisia has enjoyed a stable political regime. The social landscape has also changed, based on the declaration of the Code of Personal Status, and on the nationwide education and economic progress. Consanguineous marriages are prevalent, with the same distribution between maternal and paternal relatives' offspring. Large and consanguineous families contributed to the description of a number of new autosomal recessive conditions and to identify new loci and genes. Genetic disorders are common in Tunisia, where most people are receptive to health guidelines. Selective abortion of an affected fetus is legal in Tunisia. Contraception is encouraged. This paper reviews common genetic disorders in the country. In spite of the high quality of health care services provided in Tunisia and the progress made in genetic research in the country, genetic services still remain insufficient and do not cover all parts of the country. At present, genetic counseling and prenatal diagnosis seems to be the method of choice to prevent genetic diseases in Tunisia, and such services should be developed as a priority despite the financial costs of such a program. PMID:18689999

  1. Love scripts of persons with antisocial personality.

    PubMed

    Gawda, Barbara

    2008-10-01

    This study compared the scripts of love among 60 prison inmates diagnosed with Antisocial Personality Disorder and those of 40 inmates without an Antisocial Personality Disorder diagnosis but low antisocial tendencies, and a control group of 100 adult students in extramural or evening secondary schools without Antisocial Personality Disorder traits. The study focused on emotional knowledge about love of the group with Antisocial Personality Disorder, as they present lack of capacity for love. The study was done to examine how they perceive love and how much knowledge they have about love. All described their reactions to a photograph of a couple hugging each other. The content of these scripts, analyzed in terms of description of actors, their actions and emotions, and length of description, was compared among the groups. The scripts of love by antisocial inmates contained more actors' feelings and strong emotions, as well as more descriptions of actors' traits, their actions, and presumptions. The inmates with Antisocial Personality Disorder showed more focus on themselves when they described love than the other inmates and the controls. PMID:19102460

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    Federal Register 2010, 2011, 2012, 2013, 2014

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    ..., clinical and laboratory markers of HIV disease, manifestations of severe HIV disease, and deaths among... disease from HIV diagnosis, to AIDS, the end-stage disease caused by infection with HIV, and death. In... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork...

  15. 77 FR 17063 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-03-23

    ... Surveillance (SHAS) project (0920-0262) and the Adult/Adolescent Spectrum of HIV Disease (ASD). Both projects...-defining opportunistic illnesses and co-morbidities related to HIV disease; the receipt of prophylactic and... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork...

  16. 76 FR 12121 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-03-04

    ... behavior related to the risk of HIV and other sexually transmitted diseases, prior testing for HIV, and use... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of...

  17. Hemostatic management of patients undergoing ear-nose-throat surgery

    PubMed Central

    Thiele, Thomas; Kaftan, Holger; Hosemann, Werner; Greinacher, Andreas

    2015-01-01

    Perioperative hemostatic management is increasingly important in the field of otolaryngology. This review summarizes the key elements of perioperative risk stratification, thromboprophylaxis and therapies for bridging of antithrombotic treatment. It gives practical advice based on the current literature with focus on patients undergoing ENT surgery. PMID:26770281

  18. 78 FR 4149 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-01-18

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information...- 0488, Exp. 3/31/2013)--Revision--National Center for Emerging and Zoonotic Infectious Diseases...

  19. 78 FR 69092 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-11-18

    ... Transmitted Disease (STD) Morbidity Surveillance) 0920-0009 (National Disease Surveillance Program--I. Case... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of...

  20. 78 FR 15368 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-03-11

    ... (CJD), Cyclosporiasis, Dengue, Hantavirus, Kawasaki Syndrome, Legionellosis, Lyme disease, Malaria... Epidemiologist Legionellosis 23 12 20/60 ] Epidemiologist Lyme Disease 52 385 10/60 Epidemiologist Malaria 55 20... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork...

  1. 75 FR 9902 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-03-04

    ..., Legionellosis, Lyme disease, Malaria, Plague, Q Fever, Reye Syndrome, Tickborne Rickettsial Disease, Trichinosis... Lyme Disease 52 385 10/60 Malaria 55 20 15/60 Plague 11 1 20/60 Q Fever 55 1 10/60 Reye Syndrome 50 1... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork...

  2. A Model Project on Joint Custody for Families Undergoing Divorce.

    ERIC Educational Resources Information Center

    Zemmelman, Steven E.; And Others

    1987-01-01

    A model of service for parents undergoing divorce and considering joint custody of their children is described. The model integrates several intervention strategies, including mediation, group treatment, divorce counseling, and child guidance. The applicability of the model to a range of problems related to divorce and child custody is…

  3. 76 FR 6138 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-02-03

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  4. 77 FR 24960 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-04-26

    ... of the Associate Director for Science, Office of the Director, Centers for Disease Control and... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of...

  5. Status of power-reactor projects undergoing licensing review

    SciTech Connect

    Silver, E.G.

    1982-07-01

    Recent regulatory and other actions relating to power reactors undergoing licensing review are summarized in Table 1 as of May 1, 1982. Except as otherwise noted, all the information presented in this article is taken from NRC press releases or from the reactor docket file, both of which are available at the NRC Public Document Room, 1717 H Street NW, Washington, DC 20555.

  6. [Echocardiographic alterations in patients with chronic kidney failure undergoing hemodialysis].

    PubMed

    Barberato, Silvio Henrique; Pecoits-Filho, Roberto

    2010-01-01

    Changes in cardiac structure and function detected by echocardiography are common in patients with chronic kidney disease undergoing hemodialysis, and have been recognized as key outcome predictors. This review attempts to summarize recent evidence pointing to the usefulness of the method in the detection of clinical and subclinical cardiac dysfunction, stratification of cardiovascular risk and assessment of intervention strategies.

  7. 78 FR 32252 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-29

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction... result of their exposure to radiation, beryllium, or silica while in the performance of duty for the... been mandated to be in effect until Congress ends the funding. Among other duties, the Department...

  8. 78 FR 24422 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-04-25

    ... National Asthma Control Program at CDC has access to and analyzes national-level asthma surveillance data... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of...

  9. 77 FR 70782 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-11-27

    ... comprehensive assessment of all the costs associated with CRC screening, especially indirect and non-medical... patients who undergo screening by FIT or colonoscopy until it reaches a target number of responses. Targets... Indirect/Non-Medical Cost Study-- New--National Center for Chronic Disease Prevention and Health...

  10. 75 FR 14163 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-03-24

    ... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information collection requests under review by the Office...

  11. 78 FR 75920 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-12-13

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction Act Review The Centers for Disease Control and Prevention (CDC) publishes a list of information... and Prevention (CDC). Background and Brief Description The annual National Health Interview Survey...

  12. 77 FR 47073 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-08-07

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction... with data from other local, state or national surveillance systems to monitor changes in relevant..., height (i.e., body mass index or BMI), waist circumference, secondhand smoke exposure, and blood...

  13. 76 FR 68465 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-11-04

    ... Comprehensive Cancer Control-- New--National Center on Chronic Disease Prevention and Health Promotion (NCCDPHP... cancer prevention and control. In addition, the results may lead to new insights and questions that can... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork...

  14. 77 FR 28881 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-05-16

    ... cervical cancer screening strategy involves administration of both the Pap test and a human papillomavirus... From the Federal Register Online via the Government Publishing Office DEPARTMENT OF HEALTH AND HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork...

  15. 75 FR 4824 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-01-29

    ... evaluate cervical cancer screening methods and the use of Human Papillomavirus DNA tests. A supplemental... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction... Human Services (DHHS), acting through NCHS, shall collect statistics on ``utilization of health...

  16. GWA meta-analysis of personality in Korean cohorts.

    PubMed

    Kim, Bo-Hye; Kim, Han-Na; Roh, Seung-Ju; Lee, Mi Kyeong; Yang, Sarah; Lee, Seung Ku; Sung, Yeon-Ah; Chung, Hye Won; Cho, Nam H; Shin, Chol; Sung, Joohon; Kim, Hyung-Lae

    2015-08-01

    Personality is a determinant of behavior and lifestyle that is associated with health and human diseases. Despite the heritability of personality traits is well established, the understanding of the genetic contribution to personality trait variation is extremely limited. To identify genetic variants associated with each of the five dimensions of personality, we performed a genome-wide association (GWA) meta-analysis of three cohorts, followed by comparison of a family cohort. Personality traits were measured with the Revised NEO Personality Inventory for the five-factor model (FFM) of personality. We investigated the top five single-nucleotide polymorphisms (SNPs) for each trait, and revealed the most highly association with neuroticism and TACC2 (rs1010657, P=8.79 × 10(-7)), extraversion and PTPN12 (rs12537271, P=1.47 × 10(-7)), openness and IMPAD1 (rs16921695, P=5 × 10(-8)), agreeableness and RPS29 (rs8015351, P=1.27 × 10(-6)) and conscientiousness and LMO4 (rs912765, P=2.91 × 10(-6)). It had no SNP reached the GWA study threshold (P<5 × 10(-8)). When expanded the SNPs up to top 100, the correlation of PTPRD (rs1029089) and agreeableness was confirmed in Healthy Twin cohort with other 13 SNPs. This GWA meta-analysis on FFM personality traits is meaningful as it was the first on a non-Caucasian population targeted to FFM of personality traits.

  17. Personalized medicine and the clinical laboratory

    PubMed Central

    Pinho, João Renato Rebello; Sitnik, Roberta; Mangueira, Cristóvão Luis Pitangueira

    2014-01-01

    Personalized medicine is the use of biomarkers, most of them molecular markers, for detection of specific genetic traits to guide various approaches for preventing and treating different conditions. The identification of several genes related to heredity, oncology and infectious diseases lead to the detection of genetic polymorphisms that are involved not only in different clinical progression of these diseases but also in variations in treatment response. Currently, it is possible to detect these polymorphisms using several methodologies: detection of single nucleotide polymorphisms using polymerase chain reaction methods; nucleic acid microarray detection; and nucleic acid sequencing with automatized DNA sequencers using Sanger-derived methods and new generation sequencing. Personalized medicine assays are directed towards detecting genetic variations that alter interactions of drugs with targets or the metabolic pathways of drugs (upstream and downstream) and can be utilized for the selection of drug formulations and detect different immunogenicities of the drug. Personalized medicine applications have already been described in different areas of Medicine and allow specific treatment approaches to be applied to each patient and pathology according to the results of these assays. The application of such a protocol demands an increasing interaction between the clinical laboratory and the clinical staff. For its implementation, a coordinated team composed of basic researchers and physicians highly specialized in their areas supported by a highly specialized team of clinical analysts particularly trained in molecular biology assays is necessary. PMID:25295459

  18. Nephron Deficiency and Predisposition to Renal Injury in a Novel One-Kidney Genetic Model.

    PubMed

    Wang, Xuexiang; Johnson, Ashley C; Williams, Jan M; White, Tiffani; Chade, Alejandro R; Zhang, Jie; Liu, Ruisheng; Roman, Richard J; Lee, Jonathan W; Kyle, Patrick B; Solberg-Woods, Leah; Garrett, Michael R

    2015-07-01

    Some studies have reported up to 40% of patients born with a single kidney develop hypertension, proteinuria, and in some cases renal failure. The increased susceptibility to renal injury may be due, in part, to reduced nephron numbers. Notably, children who undergo nephrectomy or adults who serve as kidney donors exhibit little difference in renal function compared with persons who have two kidneys. However, the difference in risk between being born with a single kidney versus being born with two kidneys and then undergoing nephrectomy are unclear. Animal models used previously to investigate this question are not ideal because they require invasive methods to model congenital solitary kidney. In this study, we describe a new genetic animal model, the heterogeneous stock-derived model of unilateral renal agenesis (HSRA) rat, which demonstrates 50%-75% spontaneous incidence of a single kidney. The HSRA model is characterized by reduced nephron number (more than would be expected by loss of one kidney), early kidney/glomerular hypertrophy, and progressive renal injury, which culminates in reduced renal function. Long-term studies of temporal relationships among BP, renal hemodynamics, and renal function demonstrate that spontaneous single-kidney HSRA rats are more likely than uninephrectomized normal littermates to exhibit renal impairment because of the combination of reduced nephron numbers and prolonged exposure to renal compensatory mechanisms (i.e., hyperfiltration). Future studies with this novel animal model may provide additional insight into the genetic contributions to kidney development and agenesis and the factors influencing susceptibility to renal injury in individuals with congenital solitary kidney.

  19. Nephron Deficiency and Predisposition to Renal Injury in a Novel One-Kidney Genetic Model

    PubMed Central

    Wang, Xuexiang; Johnson, Ashley C.; Williams, Jan M.; White, Tiffani; Chade, Alejandro R.; Zhang, Jie; Liu, Ruisheng; Roman, Richard J.; Lee, Jonathan W.; Kyle, Patrick B.; Solberg-Woods, Leah

    2015-01-01

    Some studies have reported up to 40% of patients born with a single kidney develop hypertension, proteinuria, and in some cases renal failure. The increased susceptibility to renal injury may be due, in part, to reduced nephron numbers. Notably, children who undergo nephrectomy or adults who serve as kidney donors exhibit little difference in renal function compared with persons who have two kidneys. However, the difference in risk between being born with a single kidney versus being born with two kidneys and then undergoing nephrectomy are unclear. Animal models used previously to investigate this question are not ideal because they require invasive methods to model congenital solitary kidney. In this study, we describe a new genetic animal model, the heterogeneous stock-derived model of unilateral renal agenesis (HSRA) rat, which demonstrates 50%–75% spontaneous incidence of a single kidney. The HSRA model is characterized by reduced nephron number (more than would be expected by loss of one kidney), early kidney/glomerular hypertrophy, and progressive renal injury, which culminates in reduced renal function. Long-term studies of temporal relationships among BP, renal hemodynamics, and renal function demonstrate that spontaneous single-kidney HSRA rats are more likely than uninephrectomized normal littermates to exhibit renal impairment because of the combination of reduced nephron numbers and prolonged exposure to renal compensatory mechanisms (i.e., hyperfiltration). Future studies with this novel animal model may provide additional insight into the genetic contributions to kidney development and agenesis and the factors influencing susceptibility to renal injury in individuals with congenital solitary kidney. PMID:25349207

  20. Cancer Genetics Services Directory

    MedlinePlus

    ... 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 ...