Science.gov

Sample records for persons undergoing genetic

  1. Personal genetics: sports utility vehicle?

    PubMed

    Grimaldi, Keith Anthony; Paoli, Antonio; Smith, Graeme John

    2012-12-01

    Personal genetic testing which is not strictly related to medicine or health is becoming more and more popular covering areas from ancestry, genealogy, nutrition& lifestyle and more recently sports and exercise. The reasons are compelling - if it were possible to read in our genes our potential sporting attributes and how to achieve them it would be valuable information. But is it possible? This overview will look at the current situation and future prospects the authors believe that there is utility in sports genetic testing exactly what can be interpreted from our genetic results needs to be precisely defined and limited to what has been demonstrated by repeated scientific studies. Current areas of interest include optimizing exercise/training routines, VO2max improvement and predisposition to some common sports related injuries such as tendonitis. The interest and the scientific progress is reflected both in increasing rate of publication of geneexercise studies as well as in patent applications concerning genetic associations with commercial potential.

  2. 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.

  3. Personalized Cancer Genetics Training for Personalized Medicine

    PubMed Central

    Blazer, Kathleen R.; MacDonald, Deborah J.; Culver, Julie O.; Huizenga, Carin R.; Morgan, Robert J.; Uman, Gwen C.; Weitzel, Jeffrey N.

    2012-01-01

    Purpose To assess the impact of a multi-modal interdisciplinary course in genetic cancer risk assessment (GCRA) and research collaboration for community-based clinicians. Clinicians are increasingly requested to conduct GCRA, but many are inadequately prepared to provide these services. Methods A prospective analysis of 131 participants (48 physicians, 41 advanced-practice nurses and 42 genetic counselors) from community settings across the U.S. The course was delivered in three phases: distance didactic learning, face-to-face training and 12 months of Web-based professional development activities to support integration of skills into practice. Cancer genetics knowledge, skills, professional self-efficacy and practice changes were measured at baseline, immediate- and 14-months-post course. Results Knowledge, skills and self-efficacy scores were significantly different between practice disciplines; however, post scores increased significantly overall and for each discipline (p<.001). Fourteen-month practice outcomes reflect significant increases in provision of GCRA services (p=.018), dissemination of cancer prevention information (p=.005) and high-risk screening recommendations (p=.004) to patients, patient enrollment in research (p=.013), and educational outreach about GCRA (p=.003). Conclusions Results support the efficacy of the multi-modal course as a tool to develop a genetically literate workforce. Sustained alumni participation in Web-based professional development activities has evolved into a distance-mediated Community of Practice in clinical cancer genetics, modeling the lifelong learning goals envisioned by leading CME stakeholders. PMID:21629123

  4. Personalized Medicine and Human Genetic Diversity

    PubMed Central

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

    2014-01-01

    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

  5. Dissecting the genetic architecture of human personality.

    PubMed

    Munafò, Marcus R; Flint, Jonathan

    2011-09-01

    The first candidate gene studies of human personality promised much but, in the fifteen years since their publication, have delivered little in the way of clear evidence for the contribution of specific genetic variants to observed variation in personality traits. This is most likely due to the very small effects conferred by individual loci. The advent of genome-wide association studies has brought growing awareness that high levels of statistical stringency, very large sample sizes, and independent replication will be minimum requirements for future genetic studies of personality. At the same time, evidence from other fields indicates that the genetic architecture of personality is likely to consist of the combined effect of many hundreds, if not thousands, of small effect loci.

  6. The genetic epidemiology of personality disorders

    PubMed Central

    Reichborn-Kjennerud, Ted

    2010-01-01

    Genetic epidemiologic studies indicate that all ten personality disorders (PDs) classified on the DSM-IV axis II are modestly to moderately heritable. Shared environmental and nonadditive genetic factors are of minor or no importance. No sex differences have been identified. Multivariate studies suggest that the extensive comorbidity between the PDs can be explained by three common genetic and environmental risk factors. The genetic factors do not reflect the DSM-IV cluster structure, but rather: i) broad vulnerability to PD pathology or negative emotionality; ii) high impulsivity/low agreeableness; and iii) introversion. Common genetic and environmental liability factors contribute to comorbidity between pairs or clusters of axis I and axis II disorders. Molecular genetic studies of PDs, mostly candidate gene association studies, indicate that genes linked to neurotransmitter pathways, especially in the serotonergic and dopaminergic systems, are involved. Future studies, using newer methods like genome-wide association, might take advantage of the use of endophenotypes. PMID:20373672

  7. The genetic epidemiology of personality disorders.

    PubMed

    Reichborn-Kjennerud, Ted

    2010-01-01

    Genetic epidemiologic studies indicate that all ten personality disorders (PDs) classified on the DSM-IV axis II are modestly to moderately heritable. Shared environmental and nonadditive genetic factors are of minor or no importance. No sex differences have been identified, Multivariate studies suggest that the extensive comorbidity between the PDs can be explained by three common genetic and environmental risk factors. The genetic factors do not reflect the DSM-IV cluster structure, but rather: i) broad vulnerability to PD pathology or negative emotionality; ii) high impulsivity/low agreeableness; and iii) introversion. Common genetic and environmental liability factors contribute to comorbidity between pairs or clusters of axis I and axis II disorders. Molecular genetic studies of PDs, mostly candidate gene association studies, indicate that genes linked to neurotransmitter pathways, especially in the serotonergic and dopaminergic systems, are involved. Future studies, using newer methods like genome-wide association, might take advantage of the use of endophenotypes.

  8. Genetics and Personal Responsibility for Health.

    PubMed

    Resnik, David B

    2014-06-30

    Advances in genetic medicine may have implications for how we should think about personal responsibility for health, because they may show how it is possible to exert some control over risk factors that were previously thought as beyond the individual's control. Although we cannot control the genes that we are born with, we can often make decisions concerning genetic testing, disease prevention, and treatment. One might argue, therefore, that individuals should be treated as morally responsible for taking effective action in response to genetic risks factors, since genetically-based health risks are similar to other health risks. While this argument makes sense as an abstract, philosophical position, it is not a useful guide to public policy. Given these concerns, there is little society can or should do to encourage individuals to address their genetic risk factors, other than praising those who make prudent choices.

  9. The genetic contribution to canine personality.

    PubMed

    Saetre, P; Strandberg, E; Sundgren, P-E; Pettersson, U; Jazin, E; Bergström, T F

    2006-04-01

    The domestic dog may be exceptionally well suited for behavioral genetic studies owing to its population history and the striking behavior differences among breeds. To explore to what extent and how behavioral traits are transmitted between generations, heritabilities and genetic correlations for behavioral traits were estimated in a cohort containing over 10,000 behaviorally tested German shepherd and Rottweiler dogs. In both breeds, the pattern of co-inheritance was found to be similar for the 16 examined behavioral traits. Furthermore, over 50% of the additive genetic variation of the behavioral traits could be explained by one underlying principal component, indicating a shared genetic component behind most of the examined behavioral traits. Only aggression appears to be inherited independently of the other traits. The results support a genetic basis for a broad personality trait previously named shyness-boldness dimension, and heritability was estimated to be 0.25 in the two breeds. Therefore, breeds of dogs appear to constitute a valuable resource for behavioral genetic research on the normal behavioral differences in broad personality traits.

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

    PubMed Central

    Arnaboldi, Paola; Cutica, Ilaria; Fioretti, Chiara

    2016-01-01

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

  11. 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.

  12. The net clinical benefit of personalized antiplatelet therapy in patients undergoing percutaneous coronary intervention.

    PubMed

    Siller-Matula, Jolanta M; Gruber, Carina; Francesconi, Marcel; Dechant, Cornelia; Jilma, Bernd; Delle-Karth, Georg; Grohs, Katharina; Podczeck-Schweighofer, Andrea; Christ, Günter

    2015-01-01

    This was a prospective study comparing two groups: personalized and non-personalized treatment with P2Y12 receptor blockers during a 12-month follow-up. We aimed to investigate whether personalized antiplatelet treatment in patients with high on-treatment platelet reactivity (HTPR) improves clinical outcome. Platelet reactivity was assessed by adenosine diphosphate induced aggregation using a multiple electrode aggregometry (MEA) in 798 patients with coronary artery disease undergoing percutaneous coronary intervention (PCI). Patients with HTPR received up to four repeated loading doses of clopidogrel or prasugrel in the personalized treatment group (n=403), whereas no change in the treatment strategy was undertaken in patients with HTPR in the non-personalized treatment group (n=395). There were fewer major adverse cardiac events (MACE) in the personalized treatment group than in the non-personalized treatment group (7.4% compared with 15.3% respectively; P<0.001). The multivariate Cox regression analysis showed that the relative risk to develop MACE was 51% lower in the personalized treatment group as compared with the non-personalized treatment group [hazard ratio (HR)=0.49; 95% confidence interval (CI): 0.31-0.77; P<0.001]. Similarly, there was a clear net benefit of the personalized antiplatelet treatment over the non-personalized treatment (ischemic and bleedings events: 8.2% versus 18.7% respectively; HR=0.46; 95%CI: 0.29-0.70; P<0.001). Further analysis indicated that patients with aggregation values within the therapeutic window (21-49 units) experienced the lowest event rates (stent thrombosis and major bleeding: 2.5%) as compared with poor responders (≥50 units: 5.4%) or ultra-responders (0-20 units: 5.2%). In conclusion, personalized antiplatelet treatment might improve patients' outcome without increasing bleeding complications compared with the non-personalized treatment during a 12-month follow-up.

  13. 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)

  14. Interacting personalities: behavioural ecology meets quantitative genetics.

    PubMed

    Dingemanse, Niels J; Araya-Ajoy, Yimen G

    2015-02-01

    Behavioural ecologists increasingly study behavioural variation within and among individuals in conjunction, thereby integrating research on phenotypic plasticity and animal personality within a single adaptive framework. Interactions between individuals (cf. social environments) constitute a major causative factor of behavioural variation at both of these hierarchical levels. Social interactions give rise to complex 'interactive phenotypes' and group-level emergent properties. This type of phenotype has intriguing evolutionary implications, warranting a cohesive framework for its study. We detail here how a reaction-norm framework might be applied to usefully integrate social environment theory developed in behavioural ecology and quantitative genetics. The proposed emergent framework facilitates firm integration of social environments in adaptive research on phenotypic characters that vary within and among individuals.

  15. Acceptability of a Guided Imagery Intervention for Persons Undergoing a Total Knee Replacement

    PubMed Central

    Draucker, Claire Burke; Jacobson, Ann F.; Umberger, Wendy A.; Myerscough, Rodney P.; Sanata, Jessica D.

    2015-01-01

    Background Guided imagery (GI) has been recommended as a mind-body therapy for pain relief following orthopaedic surgery, but little is known about the acceptability of the intervention. Purpose Describe the perceptions of patients undergoing total knee replacement surgery (TKR) regarding the acceptability of a customized GI intervention to promote TKR outcomes. Methods Narrative and survey data collected during a randomized controlled trial of the GI intervention were analyzed to assess the acceptability of the intervention. Results Most participants were satisfied with and actively engaged in the intervention, and they perceived it to be helpful. For the smaller group who did not find the intervention to be acceptable, reasons for dissatisfaction and barriers to engagement were identified. Conclusions GI is an acceptable intervention for many persons undergoing TKR surgery. The results of this study can provide information to further develop a targeted and customized GI intervention for this population. PMID:26575508

  16. 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…

  17. Ethical aspects of undergoing a predictive genetic testing for Huntington's disease.

    PubMed

    Andersson, Petra Lilja; Juth, Niklas; Petersén, Åsa; Graff, Caroline; Edberg, Anna-Karin

    2013-03-01

    The aim of this study was to describe the experiences of undergoing a presymptomatic genetic test for the hereditary and fatal Huntington's disease, using a case study approach. The study was based on 18 interviews with a young woman and her husband from the decision to undergo the test, to receiving the results and trying to adapt to them, which were analysed using a life history approach. The findings show that the process of undergoing a presymptomatic test involves several closely connected ethical and medical questions, such as the reason for the test, the consequences of the test results and how health-care services can be developed to support people in this situation.

  18. [Anesthetic management of a patient with stiff-person syndrome undergoing thymectomy].

    PubMed

    Tadokoro, Takahiro; Yamashita, Soichiro; Ishigaki, Maiko; Takahashi, Shinji; Tanaka, Makoto

    2012-02-01

    Stiff-person syndrome is an uncommon disease characterized by muscular rigidity and painful spasms in the axial and limb muscles. We report a 58-year-old woman with stiff-person syndrome undergoing thymectomy under general anesthesia. Before surgery, her medications were 25 mg of diazepam, 2 mg of clonazepam, and 15 mg of gabapentin per day. After epidural catheterization for the postoperative analgesia, general anesthesia was induced and maintained with continuous remifentanil infusion and propofol with target controlled infusion. With train-of-four ratio (TOFR) monitoring by stimulating the ulnar nerve, her trachea was intubated after 0.6mg x kg(-1) of rocuronium intravenous administration. Since then, additional rocuronium was not given for 4 hours. After surgery, she was fully awake and TOFR recovered to 100%, but tidal volume was too low to remove the tracheal tube, and mechanical ventilation was continued in ICU. On the next day, the tracheal tube was removed, and she was discharged from ICU. Because anesthetics may delay the recovery of respiratory function in a patient with stiff-person syndrome, careful assessment of respiratory function is needed at the emergence from general anesthesia.

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

    PubMed Central

    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.

    2015-01-01

    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

  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. 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...

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

    PubMed

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

    2015-01-07

    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.

  3. Genetic modifications for personal enhancement: a defence.

    PubMed

    Murphy, Timothy F

    2014-04-01

    Bioconservative commentators argue that parents should not take steps to modify the genetics of their children even in the name of enhancement because of the damage they predict for values, identities and relationships. Some commentators have even said that adults should not modify themselves through genetic interventions. One commentator worries that genetic modifications chosen by adults for themselves will undermine moral agency, lead to less valuable experiences and fracture people's sense of self. These worries are not justified, however, since the effects of modification will not undo moral agency as such. Adults can still have valuable experiences, even if some prior choices no longer seem meaningful. Changes at the genetic level will not always, either, alienate people from their own sense of self. On the contrary, genetic modifications can help amplify choice, enrich lives and consolidate identities. Ultimately, there is no moral requirement that people value their contingent genetic endowment to the exclusion of changes important to them in their future genetic identities. Through weighing risks and benefits, adults also have the power to consent to, and assume the risks of, genetic modifications for themselves in a way not possible in prenatal genetic interventions.

  4. The role of genetic information in personalized medicine.

    PubMed

    Gamma, Alex

    2013-01-01

    Personalized medicine is the latest promise of a gene-centered biomedicine to provide treatments custom-tailored to the specific needs of patients. Although surrounded by much hype, personalized medicine at present lacks the empirical and theoretical foundations necessary to render it a realistic long-term perspective. In particular, the role of genetic data and the relationship between causal understanding, prediction, prevention, and treatment of a disease need clarifying. This article critically examines the concept of information in genetics and its relation to modern-day genetic determinism, using pharmacogenetics, personalized medicine's core discipline, as a test case. The article concludes that: (1) genetic knowledge does not constitute a privileged basis for personalized medicine because there is an a priori complete causal parity of genetic and nongenetic resources of development; and (2) prediction, prevention, and treatment all depend on a causal-mechanistic understanding that will follow only from integrating data across the whole gamut of developmental factors-genetic and non-genetic. In a future successful personalized medicine, genes will have no special status, either as determinants of phenotype, markers of disease or as targets of treatment.

  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. The Genetic and Environmental Sources of Resemblance Between Normative Personality and Personality Disorder Traits.

    PubMed

    Kendler, K S; Aggen, S H; Gillespie, Nathan; Neale, M C; Knudsen, G P; Krueger, R F; Czajkowski, Nikolai; Ystrom, Eivind; Reichborn-Kjennerud, T

    2016-06-20

    Recent work has suggested a high level of congruence between normative personality, most typically represented by the "big five" factors, and abnormal personality traits. In 2,293 Norwegian adult twins ascertained from a population-based registry, the authors evaluated the degree of sharing of genetic and environmental influences on normative personality, assessed by the Big Five Inventory (BFI), and personality disorder traits (PDTs), assessed by the Personality Inventory for DSM-5-Norwegian Brief Form (PID-5-NBF). For four of the five BFI dimensions, the strongest genetic correlation was observed with the expected PID-5-NBF dimension (e.g., neuroticism with negative affectivity [+], conscientiousness with disinhibition [-]). However, neuroticism, conscientiousness, and agreeableness had substantial genetic correlations with other PID-5-NBF dimensions (e.g., neuroticism with compulsivity [+], agreeableness with detachment [-]). Openness had no substantial genetic correlations with any PID-5-NBF dimension. The proportion of genetic risk factors shared in aggregate between the BFI traits and the PID-5-NBF dimensions was quite high for conscientiousness and neuroticism, relatively robust for extraversion and agreeableness, but quite low for openness. Of the six PID-5-NBF dimensions, three (negative affectivity, detachment, and disinhibition) shared, in aggregate, most of their genetic risk factors with normative personality traits. Genetic factors underlying psychoticism, antagonism, and compulsivity were shared to a lesser extent, suggesting that they are influenced by etiological factors not well indexed by the BFI.

  7. Genetic correlations among facets of type A behavior and personality.

    PubMed

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

    2012-08-01

    The purpose of this study was to examine the phenotypic, genetic, and environmental relationships between multiple dimensions of Type A behavior and personality. Adult twins (N=247 pairs) completed a self-report personality measure and a work style questionnaire that measured six facets of Type A behavior: impatience, anger, work involvement, time urgency, job dissatisfaction, and competitiveness. Univariate results suggest that only the job dissatisfaction facet of Type A behavior was explained by non-genetic (environmental) factors. Multivariate results suggest that all of the genetically determined facets of Type A behavior show some correspondence with at least one of the personality factors found in the study, suggesting that some of the phenotypic (observed) relationships could be due to common genetic factors.

  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.

  9. 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

  10. True grit and genetics: predicting academic achievement from personality

    PubMed Central

    Rimfeld, Kaili; Kovas, Yulia; Dale, Philip S.; Plomin, Robert

    2015-01-01

    Grit -- perseverance and passion for long-term goals -- has been shown to be a significant predictor of academic success, even after controlling for other personality factors. Here, for the first time, we use a UK-representative sample and a genetically sensitive design to unpack the etiology of grit and its prediction of academic achievement in comparison to well-established personality traits. For 4,642 16-year-olds (2,321 twin pairs), we used the Grit-S scale (Perseverance of Effort and Consistency of Interest), along with the Big-5 personality traits, to predict scores on the General Certificate of Secondary Education (GCSE) exams, which are administered UK-wide at the end of compulsory education. Twin analyses of Grit Perseverance yielded a heritability estimate of 37% (20% for Consistency of Interest) and no evidence for shared environmental influence. Personality, primarily Conscientiousness, predicts about 6% of the variance in GCSE scores, but Grit adds little to this prediction. Moreover, multivariate twin analyses showed that roughly two-thirds of the GCSE prediction is mediated genetically. Grit Perseverance of Effort and Big-5 Conscientiousness are to a large extent the same trait both phenotypically (r=0.53) and genetically (genetic correlation = 0. 86). We conclude that the etiology of Grit is highly similar to other personality traits, not only in showing substantial genetic influence but also in showing no influence of shared environmental factors. Personality significantly predicts academic achievement, but Grit adds little phenotypically or genetically to the prediction of academic achievement beyond traditional personality factors, especially Conscientiousness. PMID:26867111

  11. 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.

  12. [Significance of genetic tests in the era of personalized medicine].

    PubMed

    Molnár, Judit Mária; Magyarósi, Szilvia; Németh, György

    2013-03-01

    Due to the rapid development in genomics, genetic markers gain importance in all areas of medicine including prevention, management and therapy of patients. As a result, medicine started to shift away from evidence based procedures to a more personalized one. However, the later one requires high quality validated genetic tests. These new tests appeared as preconceptional, preimplantational, prenatal, presymptomatic, diagnostic and direct to consumer forms. Before approval such tests must be analytically and clinically validated. Broader use of these genetic tests is dependent on their price and reimbursement schemes.

  13. Aging and Heterogeneity: Genetics, Social Structure, and Personality.

    ERIC Educational Resources Information Center

    Light, John M.; And Others

    1996-01-01

    Suggests that the heterogeneity of human personality characteristics increases with age. Examines reasons for this phenomenon in terms of individual differentiation, social structure/allocation, and behavioral genetics. Develops a model synthesizing various study designs that prevent variation and covariation errors from occurring in life course…

  14. Psychopathic personality in children: genetic and environmental contributions

    PubMed Central

    Bezdjian, S.; Raine, A.; Baker, L. A.; Lynam, D. R.

    2011-01-01

    Background The current study investigates whether the underlying factor structure of psychopathic personality traits found in adults is similar to that in children and what the extent of the genetic and environmental influences are on these psychopathic traits. Method Psychopathic personality traits were assessed in a community sample of 1219 twins and triplets (age 9–10 years) through caregiver reports of each child’s behavior using the Child Psychopathy Scale (CPS). Results Confirmatory factor analyses revealed an optimal two-factor solution (callous/disinhibited and manipulative/deceitful) to the CPS subscales. Bivariate genetic modeling of the two computed factor scores revealed significant genetic as well as unique environmental influences on psychopathic personality traits in both boys and girls, with heritability estimates of 0.64 and 0.46, respectively, in boys and 0.49 and 0.58, respectively, in girls. No shared environmental influences on psychopathic personality traits were found. Conclusions The relationship between the two factors was mediated by both genetic and unique environmental factors common to both traits. PMID:20482945

  15. Nursing strategies to reduce length of stay for persons undergoing total knee replacement: integrative review of key variables.

    PubMed

    Hass, Shelly; Jaekel, Camilla; Nesbitt, Bonnie

    2015-01-01

    Decreasing the length of stay for persons undergoing total knee replacement surgery can improve patient and organizational outcomes while reducing health care costs. This integrative review examined selected nurse-driven variables that assist the interdisciplinary team to reduce length of stay. Findings suggest that a targeted clinical pathway including comprehensive preoperative patient education, physical therapy on the day of surgery, multimodal pain control, and proactive discharge planning may provide the best practice with this patient population.

  16. The Influence of Health Care Policies and Health Care System Distrust on Willingness to Undergo Genetic Testing

    PubMed Central

    Armstrong, Katrina; Putt, Mary; Halbert, Chanita Hughes; Grande, David; Schwartz, J. Sanford; Liao, Kaijun; Marcus, Noora; Demeter, Mirar Bristol; Shea, Judy

    2012-01-01

    Purpose As the potential role of genetic testing in disease prevention and management grows, so does concern about differences in uptake of genetic testing across social and racial groups. Characteristics of how genetic tests are delivered may influence willingness to undergo testing and, if they affect population subgroups differently, alter disparities in testing. Methods Conjoint analysis study of the effect of three characteristics of genetic test delivery (i.e. attributes) on willingness to undergo genetic testing for cancer risk. Data were collected using a random digit dialing survey of 128 African American and 209 White individuals living in the US. Measures included conjoint scenarios, the Revised Health Care System Distrust Scale (including the values and competence subscales), health insurance coverage, and sociodemographic characteristics. The three attributes studied were disclosure of test results to the health insurer, provision of the test by a specialist or primary care doctor, and race specific or race neutral marketing. Results In adjusted analyses, disclosure of test results to insurers, having to get the test from a specialist, and race specific marketing were all inversely associated with willingness to undergo the genetic test, with the greatest effect for the disclosure attribute. Racial differences in willingness to undergo testing were not statistically significant (p=0.07) and the effect of the attributes on willingness to undergo testing did not vary by patient race. However, the decrease in willingness to undergo testing with insurance disclosure was greater among individuals with high values distrust (p=0.03) and the decrease in willingness to undergo testing from specialist access was smaller among individuals with high competence distrust (p=0.03). Conclusions Several potentially modifiable characteristics of how genetic tests are delivered are associated with willingness to undergo testing. The effect of two of these characteristics

  17. The majority of genetic variation in orangutan personality and subjective well-being is nonadditive.

    PubMed

    Adams, Mark James; King, James E; Weiss, Alexander

    2012-07-01

    The heritability of human personality is well-established. Recent research indicates that nonadditive genetic effects, such as dominance and epistasis, play a large role in personality variation. One possible explanation for the latter finding is that there has been recent selection on human personality. To test this possibility, we estimated additive and nonadditive genetic variance in personality and subjective well-being of zoo-housed orangutans. More than half of the genetic variance in these traits could be attributed to nonadditive genetic effects, modeled as dominance. Subjective well-being had genetic overlap with personality, though less so than has been found in humans or chimpanzees. Since a large portion of nonadditive genetic variance in personality is not unique to humans, the nonadditivity of human personality is not sufficient evidence for recent selection of personality in humans. Nonadditive genetic variance may be a general feature of the genetic structure of personality in primates and other animals.

  18. 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

  19. 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.

  20. 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.

  1. Canaries in the coal mine: Personal and professional impact of undergoing whole genome sequencing on medical professionals.

    PubMed

    Zierhut, Heather; McCarthy Veach, Patricia; LeRoy, Bonnie

    2015-11-01

    Public interest in personal whole genome sequencing is increasing. The technology is publicly available and is being used as an educational tool in higher education. Empirical evidence regarding its utility is vital. The goals of this study were to characterize the process of whole genome sequencing in a population of medical and basic science professionals undergoing whole genome sequencing as a part of an educational symposium. Thirty-eight individuals completed one or more surveys from the time of informed consent for whole genome sequencing to 3 months post-symposium. The four surveys assessed demographics, decision-making, communication, decision regret, and personal and professional impact. The most prevalent motivation to participate was professional enhancement, followed by curiosity about the technology, and personal health benefits. The most important initial impact concerned medical implications. Over time, however, impact on professional development was greater than on personal health. Anticipated reactions to receiving whole genome sequencing results generally matched participants' actual reactions and decision regret remained low over time. Benefits and risks of whole genome sequencing included medically actionable results and misunderstanding by healthcare providers. Whole genome sequencing generally had a positive impact professionally and personally on participants. Further education of providers and the public about whole genome sequencing and psychosocial support is warranted.

  2. 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.

  3. 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.

  4. A national survey of genetic counselors' personal values.

    PubMed

    Pirzadeh, Sara M; McCarthy Veach, Patricia; Bartels, Dianne M; Kao, Juihsien; Leroy, Bonnie S

    2007-12-01

    Personal values are motivational sources for an individual's actions [Hitlin and Piliavin (Annual Review of Sociology 30:359-393, 2004)]. Genetic counselors' values may influence their behaviors in clinical practice, but a profile of their personal values has not been identified empirically. In this study, 292 genetic counselors completed the Schwartz Universal Values Questionnaire (SUVQ; Schwartz, S. H. (1992). Universals in the content and structure of values: Theoretical advances and empirical tests in 20 countries. In M. Zanna (Ed.), Advances in experimental social psychology (pp. 1-65). Boston, MA: Academic.), a widely used measure of value types, and provided information about their demographic characteristics. Results indicate that respondents highly valued benevolence, self-direction, achievement, and universalism indicating a strong pattern of concern for the welfare of others. They placed considerably less value on stimulation, tradition, and power, which reflect personal interests. Respondents who reported practicing a religion scored significantly lower on stimulation and hedonism and higher on tradition and spirituality than those not practicing; married respondents and parents scored significantly lower on stimulation and achievement; and males scored higher on power than females. The value types are described, and training and research recommendations are provided.

  5. Observed Personality in Childhood: Psychometric and Behavioral Genetic Evidence of Two Broad Personality Factors

    PubMed Central

    Wang, Zhe; Chen, Nan; Petrill, Stephen A.; Deater-Deckard, Kirby

    2014-01-01

    We examined broad dimensions of children’s personalities (total n = 1056; age = 3.5 to 12 years) based on observers’ perceptions following a few hours of structured interaction. Siblings’ behaviors during a two-hour cognitive assessment in the home were rated separately by two different observers. Exploratory and confirmatory factor analyses clearly revealed a two-factor solution in three different samples. There was correspondence between parent-rated temperament and the observer-rated factors. Cross-sectional analyses indicated lower Plasticity among older children and higher Stability among older children. Sex differences were negligible. Plasticity and Stability were correlated in the .2 to .3 range. Most of the sibling similarity in the Plasticity was due to additive genetic influences, whereas most sibling similarity in Stability was attributable to shared environmental influences. The findings implicate a biometric factor structure to childhood personality that fits well with emerging bio-social theories of personality development. PMID:24932065

  6. 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

  7. 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

  8. From obesity genetics to the future of personalized obesity therapy.

    PubMed

    El-Sayed Moustafa, Julia S; Froguel, Philippe

    2013-07-01

    Obesity is a disorder characterized by an excess accumulation of body fat resulting from a mismatch between energy intake and expenditure. Incidence of obesity has increased dramatically in the past few years, almost certainly fuelled by a shift in dietary habits owing to the widespread availability of low-cost, hypercaloric foods. However, clear differences exist in obesity susceptibility among individuals exposed to the same obesogenic environment, implicating genetic risk factors. Numerous genes have been shown to be involved in the development of monofactorial forms of obesity. In genome-wide association studies, a large number of common variants have been associated with adiposity levels, each accounting for only a small proportion of the predicted heritability. Although the small effect sizes of obesity variants identified in genome-wide association studies currently preclude their utility in clinical settings, screening for a number of monogenic obesity variants is now possible. Such regular screening will provide more informed prognoses and help in the identification of at-risk individuals who could benefit from early intervention, in evaluation of the outcomes of current obesity treatments, and in personalization of the clinical management of obesity. This Review summarizes current advances in obesity genetics and discusses the future of research in this field and the potential relevance to personalized obesity therapy.

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

    PubMed

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

    2016-02-01

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

  10. Dependence of deodorant usage on ABCC11 genotype: scope for personalized genetics in personal hygiene.

    PubMed

    Rodriguez, Santiago; Steer, Colin D; Farrow, Alexandra; Golding, Jean; Day, Ian N M

    2013-07-01

    Earwax type and axillary odor are genetically determined by rs17822931, a single-nucleotide polymorphism (SNP) located in the ABCC11 gene. The literature has been concerned with the Mendelian trait of earwax, although axillary odor is also Mendelian. Ethnic diversity in rs17822931 exists, with higher frequency of allele A in east Asians. Influence on deodorant usage has not been investigated. In this work, we present a detailed analysis of the rs17822931 effect on deodorant usage in a large (N∼17,000 individuals) population cohort (the Avon Longitudinal Study of Parents and Children (ALSPAC)). We found strong evidence (P=3.7 × 10(-20)) indicating differential deodorant usage according to the rs17822931 genotype. AA homozygotes were almost 5-fold overrepresented in categories of never using deodorant or using it infrequently. However, 77.8% of white European genotypically nonodorous individuals still used deodorant, and 4.7% genotypically odorous individuals did not. We provide evidence of a behavioral effect associated with rs17822931. This effect has a biological basis that can result in a change in the family's environment if an aerosol deodorant is used. It also indicates potential cost saving to the nonodorous and scope for personalized genetics usage in personal hygiene choices, with consequent reduction of inappropriate chemical exposures for some.

  11. Percept-genetic signs of repression in histrionic personality disorder.

    PubMed

    Rubino, I A; Saya, A; Pezzarossa, B

    1992-04-01

    Several types of perceptual distortions of two anxiety-arousing visual stimuli are coded as repression in the Defense Mechanism Test, a tachistoscopic, percept-genetic technique. Given the well-established correspondence between hysteria and repression, the study included a clinical validation of these variants of repression against the diagnosis of histrionic personality disorder. 41 subjects with evidence of this disorder on the Millon Clinical Multiaxial Inventory-II were compared with 41 nonhistrionic controls. Significantly more histrionics were coded for the type of repression in which the threatening figure is transformed into a harmless object (code 1:42), while animal- and statue-repressions, when combined (codes 1:1 and 1:2), were significantly more characteristic of the nonhistrionic group. As an unpredicted finding, significantly more histrionic subjects employed defensive strategies, currently coded as reaction formations (code 4:). Histrionic subjects without concomitant compulsive features were coded more frequently for introaggression (code 6:) compared both with nonhistrionic controls and with histrionic-compulsive subjects. The findings are discussed within the context of the available percept-genetic literature. It is suggested that the Defense Mechanism Test may be further employed to objectify and investigate the defense mechanisms of the DSM-III-R disorders.

  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. AFLP genome scan in the black rat (Rattus rattus) from Madagascar: detecting genetic markers undergoing plague-mediated selection.

    PubMed

    Tollenaere, C; Duplantier, J-M; Rahalison, L; Ranjalahy, M; Brouat, C

    2011-03-01

    The black rat (Rattus rattus) is the main reservoir of plague (Yersinia pestis infection) in Madagascar's rural zones. Black rats are highly resistant to plague within the plague focus (central highland), whereas they are susceptible where the disease is absent (low altitude zone). To better understand plague wildlife circulation and host evolution in response to a highly virulent pathogen, we attempted to determine genetic markers associated with plague resistance in this species. To this purpose, we combined a population genomics approach and an association study, both performed on 249 AFLP markers, in Malagasy R. rattus. Simulated distributions of genetic differentiation were compared to observed data in four independent pairs, each consisting of one population from the plague focus and one from the plague-free zone. We found 22 loci (9% of 249) with higher differentiation in at least two independent population pairs or with combining P-values over the four pairs significant. Among the 22 outlier loci, 16 presented significant association with plague zone (plague focus vs. plague-free zone). Population genetic structure inferred from outlier loci was structured by plague zone, whereas the neutral loci dataset revealed structure by geography (eastern vs. western populations). A phenotype association study revealed that two of the 22 loci were significantly associated with differentiation between dying and surviving rats following experimental plague challenge. The 22 outlier loci identified in this study may undergo plague selective pressure either directly or more probably indirectly due to hitchhiking with selected loci.

  14. Genetic therapy, person-regarding reasons and the determination of identity.

    PubMed

    Elliot, Robert

    1997-04-01

    It has been argued, for example by Ingmar Persson, that genetic therapy performed on a conceptus does not alter the identity of the person that develops from it, even if we are essentially persons. If this claim is true then there can be person-regarding reasons for performing genetic therapy on a conceptus. Here it is argued that such person-regarding reasons obtain only if we are not essentially persons but essentially animals. This conclusion requires the defeat of the origination theory, which says that personal identity is determined by the identity of the foetus from which one originates. It is argued that the origination theory is false in the special case relevant to performing genetic therapy on a conceptus for person-regarding reasons.

  15. 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.

  16. The Genetic and Environmental Covariation Among Psychopathic Personality Traits, and Reactive and Proactive Aggression in Childhood

    PubMed Central

    Bezdjian, Serena; Raine, Adrian; Tuvblad, Catherine; 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 Reactive Proactive Questionnaire (A. Raine et al., 2006). Significant common genetic influences were found to be shared by psychopathic personality traits and aggressive behaviors using both caregiver (mainly mother) and child self-reports. Significant genetic and nonshared environmental influences specific to psychopathic personality traits and reactive and proactive aggression were also found, suggesting etiological independence among these phenotypes. Additionally, the genetic relation between psychopathic personality traits and aggression was significantly stronger for proactive than reactive aggression when using child self-reports. PMID:21557742

  17. 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.

  18. 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.

  19. Familial resemblance of borderline personality disorder features: genetic or cultural transmission?

    PubMed

    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.

  20. Genetic contributions to antisocial personality and behavior: a meta-analytic review from an evolutionary perspective.

    PubMed

    Ferguson, Christopher J

    2010-01-01

    Evidence from behavioral genetics supports the conclusion that a significant amount of the variance in antisocial personality and behavior (APB) is due to genetic contributions. Many scientific fields such as psychology, medicine, and criminal justice struggle to incorporate this information with preexisting paradigms that focused exclusively on external or learned etiology of antisocial behavior. The current paper presents a meta-analytic review of behavioral genetic etiological studies of APB. Results indicated that 56% of the variance in APB can be explained through genetic influences, with 11% due to shared non-genetic influences, and 31% due to unique non-genetic influences. This data is discussed in relation to evolutionary psychological theory.

  1. Adolescent personality moderates genetic and environmental influences on relationships with parents.

    PubMed

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

    2008-05-01

    In contrast with early theories of socialization that 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 suggests 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, the authors examined whether the etiology of this relationship might change depending on the adolescent's personality. Biometrical moderation models were used 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 years). They 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.

  2. Engagement with Genetic Information and Uptake of Genetic Testing: the Role of Trust and Personal Cancer History.

    PubMed

    Roberts, Megan C; Taber, Jennifer M; Klein, William M

    2017-01-20

    We used national survey data to (1) determine the extent to which individuals trust the sources from which they are most likely to receive information about cancer-related genetic tests (BRCA1/2, Lynch syndrome), (2) examine how level of trust for sources of genetic information might be related to cancer-related genetic testing uptake, and (3) determine whether key factors, such as cancer history and numeracy, moderate the latter association. We used cross-sectional data from the Health Information National Trends Survey. Our study sample included individuals who responded that they had heard or read about genetic tests (n = 1117). All analyses accounted for complex survey design. Although respondents trusted information from health professionals the most, they were significantly less likely to report hearing about genetic testing from such professionals than via television (p < 0.01). Regardless of source, higher levels of trust in the information source from which participants heard about genetic tests were associated with increased odds of genetic testing uptake, particularly among those with a personal cancer history. Numeracy was not associated with genetic testing uptake. Because health professionals were among the most trusted health information sources, they may serve as important brokers of genetic testing information for those with a personal cancer history.

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

    PubMed Central

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

    2016-01-01

    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. PMID:26014424

  4. 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.

  5. 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.

  6. 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.

  7. 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…

  8. 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…

  9. 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.

  10. 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.

  11. 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

  12. 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.

  13. 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.

  14. Evidence for nonadditive genetic effects on Eysenck Personality Scales in South Korean twins.

    PubMed

    Hur, Yoon-Mi

    2007-04-01

    While evidence supporting for nonadditive genetic influences on personality traits in Caucasian populations has been growing in recent years, twin studies that explored the existence of genetic nonadditivity in personality variation in Asian populations are still lacking. Seven hundred and sixty-five pairs of adolescent and young adult twins registered with the South Korean Twin Registry completed the 7 scales of the Eysenck Personality Scales through a mail survey. Maximum likelihood twin correlations were computed and model-fitting analyses were conducted. Monozygotic twin correlations were consistently higher than twice the dizygotic twin correlations for all 7 scales, suggesting pervasive influences of nonadditive genetic effects on personality traits in the South Korean population. Model-fitting analyses indicated that genetic nonadditivity is particularly important for the variation of Impulsivity, Venturesomeness, Empathy, Lie, and Psychoticism. According to the best fitting models, nonadditive genetic effects ranged from 34 to 49% for these scales. For Neuroticism and Extraversion, models that included an additive genetic component fit better than those including a nonadditive genetic variance component.

  15. 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.

  16. Borderline personality traits and adult attention-deficit hyperactivity disorder symptoms: a genetic analysis of comorbidity.

    PubMed

    Distel, Marijn A; Carlier, Angela; Middeldorp, Christel M; Derom, Catherine A; Lubke, Gitta H; Boomsma, Dorret I

    2011-12-01

    Previous research has established the comorbidity of adult Attention-Deficit Hyperactivity Disorder (ADHD) with different personality disorders including Borderline Personality Disorder (BPD). The association between adult ADHD and BPD has primarily been investigated at the phenotypic level and not yet at the genetic level. The present study investigates the genetic and environmental contributions to the association between borderline personality traits (BPT) and ADHD symptoms in a sample of 7,233 twins and siblings (aged 18-90 years) registered with the Netherlands Twin Register and the East Flanders Prospective Twin Survey (EFPTS) . Participants completed the Conners' Adult ADHD Rating Scales (CAARS-S:SV) and the Personality Assessment Inventory-Borderline Features Scale (PAI-BOR). A bivariate genetic analysis was performed to determine the extent to which genetic and environmental factors influence variation in BPT and ADHD symptoms and the covariance between them. The heritability of BPT and ADHD symptoms was estimated at 45 and 36%, respectively. The remaining variance in BPT and ADHD symptoms was explained by unique environmental influences. The phenotypic correlation between BPT and ADHD symptoms was estimated at r = 0.59, and could be explained for 49% by genetic factors and 51% by environmental factors. The genetic and environmental correlations between BPT and ADHD symptoms were 0.72 and 0.51, respectively. The shared etiology between BPT and ADHD symptoms is thus a likely cause for the comorbidity of the two disorders.

  17. 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

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

    PubMed

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

    2014-12-07

    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.

  19. A genome-wide association study of Cloninger's temperament scales: implications for the evolutionary genetics of personality.

    PubMed

    Verweij, Karin J H; Zietsch, Brendan P; Medland, Sarah E; Gordon, Scott D; Benyamin, Beben; Nyholt, Dale R; McEvoy, Brian P; Sullivan, Patrick F; Heath, Andrew C; Madden, Pamela A F; Henders, Anjali K; Montgomery, Grant W; Martin, Nicholas G; Wray, Naomi R

    2010-10-01

    Variation in personality traits is 30-60% attributed to genetic influences. Attempts to unravel these genetic influences at the molecular level have, so far, been inconclusive. We performed the first genome-wide association study of Cloninger's temperament scales in a sample of 5117 individuals, in order to identify common genetic variants underlying variation in personality. Participants' scores on Harm Avoidance, Novelty Seeking, Reward Dependence, and Persistence were tested for association with 1,252,387 genetic markers. We also performed gene-based association tests and biological pathway analyses. No genetic variants that significantly contribute to personality variation were identified, while our sample provides over 90% power to detect variants that explain only 1% of the trait variance. This indicates that individual common genetic variants of this size or greater do not contribute to personality trait variation, which has important implications regarding the genetic architecture of personality and the evolutionary mechanisms by which heritable variation is maintained.

  20. 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.

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

    PubMed

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

    2009-02-15

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

  2. 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.

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

    PubMed Central

    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.

    2015-01-01

    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 one 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. PMID:25833335

  4. 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.

  5. 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.

  6. A genetic factor explains most of the variation in the psychopathic personality.

    PubMed

    Larsson, Henrik; Andershed, Henrik; Lichtenstein, Paul

    2006-05-01

    The psychopathic personality can be conceptualized as three interrelated dimensions, (a) an interpersonal style of glibness, grandiosity, and manipulation; (b) an affective disposition of callousness, lack of empathy, and unemotionality; and (c) a behavioral/lifestyle dimension of impulsivity, need for stimulation, and irresponsibility, underpinning a higher order construct, psychopathic personality. The authors used a self-report questionnaire (The Youth Psychopathic Traits Inventory) to study the importance of genetic and environmental influences on psychopathic personality traits in a sample of 1,090 monozygotic and dizygotic twin pairs, aged 16-17 years. Results showed a strong genetic influence behind the higher order "psychopathic personality" factor, underpinned by the three psychopathic personality dimensions. Over and above the effects to the higher order factor, significant unique genetic influences were also found in the callous/unemotional and in the impulsive/irresponsible dimension, but not in the grandiose/manipulative dimension. The authors propose that this latent psychopathic personality factor is a meaningful target for future etiological research.

  7. 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

  8. A genetic-based algorithm for personalized resistance training.

    PubMed

    Jones, N; Kiely, J; Suraci, B; Collins, D J; de Lorenzo, D; Pickering, C; Grimaldi, K A

    2016-06-01

    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

  9. Values at stake: autonomy, responsibility, and trustworthiness in relation to genetic testing and personalized nutrition advice.

    PubMed

    Nordström, Karin; Juth, Niklas; Kjellström, Sofia; Meijboom, Franck L B; Görman, Ulf

    2013-07-01

    Personalized nutrition has the potential to enhance individual health control. It could be seen as a means to strengthen people's autonomy as they learn more about their personal health risks, and receive dietary advice accordingly. We examine in what sense personalized nutrition strengthens or weakens individual autonomy. The impact of personalized nutrition on autonomy is analyzed in relation to responsibility and trustworthiness. On a societal level, individualization of health promotion may be accompanied by the attribution of extended individual responsibility for one's health. This constitutes a dilemma of individualization, caused by a conflict between the right to individual freedom and societal interests. The extent to which personalized nutrition strengthens autonomy is consequently influenced by how responsibility for health is allocated to individuals. Ethically adequate allocation of responsibility should focus on prospective responsibility and be differentiated with regard to individual differences concerning the capacity of adults to take responsibility. The impact of personalized nutrition on autonomy also depends on its methodological design. Owing to the complexity of information received, personalized nutrition through genetic testing (PNTGT) is open to misinterpretation and may not facilitate informed choices and autonomy. As new technologies, personalized nutrition and PNTGT are subject to issues of trust. To strengthen autonomy, trust should be approached in terms of trustworthiness. Trustworthiness implies that an organization that develops or introduces personalized nutrition can show that it is competent to deal with both the technical and moral dimensions at stake and that its decisions are motivated by the interests and expectations of the truster.

  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. Personalized genetics of the cholinergic blockade of neuroinflammation.

    PubMed

    Simchovitz, Alon; Heneka, Michael T; Soreq, Hermona

    2017-03-21

    Acetylcholine signaling is essential for cognitive functioning and blocks inflammation. To maintain homeostasis, cholinergic signaling is subjected to multi-leveled and bidirectional regulation by both proteins and non-coding microRNAs ('CholinomiRs'). CholinomiRs coordinate the cognitive and inflammatory aspects of cholinergic signaling by targeting major cholinergic transcripts including the acetylcholine hydrolyzing enzyme acetylcholinesterase (AChE). Notably, AChE inhibitors are the only currently approved line of treatment for Alzheimer's disease patients. Since cholinergic signaling blocks neuroinflammation which is inherent to Alzheimer's disease, genomic changes modifying AChE's properties and its susceptibility to inhibitors and/or to CholinomiRs regulation may affect the levels and properties of inflammasome components such as NLRP3. This calls for genomic-based medicine approaches based on genotyping of both coding and non-coding single nucleotide polymorphisms (SNPs) in the genes involved in cholinergic signaling. An example is a SNP in a recognition element for the primate-specific microRNA-608 within the 3' untranslated region of the AChE transcript. Carriers of the minor allele of that SNP present massively elevated brain AChE levels, increased trait anxiety and inflammation, accompanied by perturbed CholinomiR-608 regulatory networks and elevated prefrontal activity under exposure to stressful insults. Several additional SNPs in the AChE and other cholinergic genes await further studies, and might likewise involve different CholinomiRs and pathways including those modulating the initiation and progression of neurodegenerative diseases. CholinomiRs regulation of the cholinergic system thus merits in-depth interrogation and is likely to lead to personalized medicine approaches for achieving better homeostasis in health and disease. This is an article for the special issue XVth International Symposium on Cholinergic Mechanisms.

  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. 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

  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. 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.

  17. The eFOSTr PROJECT: design, implementation and evaluation of a web-based Personal Health Record to support health professionals and families of children undergoing transplants.

    PubMed

    Popkin, James; Kushniruk, Andre; Borycki, Elizabeth; Guarin, Desmond; Mozley, Lynne; Kilarski, Norm; Robson, Laurie; Creed, Walter

    2009-01-01

    We describe the eFOSTr PROJECT, which has involved the design, implementation and testing of a unique Internet-based Personal Health Record (PHR) to support the families of transplant children and their healthcare providers. There are many gaps in the way that information is stored for children undergoing or about to undergo transplants. This group of children presents the most challenging exercise in information support between geographic and institutionally separated medical teams. They are, however, supported by highly motivated parents and families in life-threatening circumstances. A PHR was designed that allows for secure data entry, data storage, and easy controlled data access by the children's guardians or parents. The record includes contact and team member names, and medical data such as growth charts, immunizations, allergies, medications, lab values and scanned or digitized medical reports. Families can record the progress of their child as they would with a paper binder and customize their child's record with a photograph gallery and Internet link section for personal and general interest. Extensive computer-based testing of the PHR is complete. The system is being evaluated to determine the extent to which it meets the information needs of families and health providers in differing situations across Canada. The effectiveness of the system as a means for providing continuity of information and education is also being assessed. To conduct these evaluations, new users are being interviewed and tracked in a qualitative longitudinal study. Characteristics of the needs of the transplant families known to the David Foster Foundation (DFF) in Canada are described so that comparisons can be made to other patient groups who could benefit from their own adapted and specialized PHRs.

  18. 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

  19. Personal genetics: regulatory framework in Europe from a service provider's perspective.

    PubMed

    Grimaldi, Keith A; Look, Markus P; Scioli, G Antonio; Clavero, Juan Coll; Marinos, Stathis; Tagaris, Tassos

    2011-04-01

    The purpose of this article is to give an overview and discuss the relevant regulations in place, or under consideration, regarding healthcare-related personal genetics services in Europe - this is a rapidly evolving field and in most European Union (EU) countries the regulatory framework is not yet clear. The review will be framed from the perspective of potential service providers (companies, health services and practitioners, including medical, nutritional, complementary, etc), the growing number of which will need to be aware of potential regulatory hurdles existing now and that may arise in the future. The main conclusion from the survey is that strict regulations regarding practitioner-delivered personal genetic-testing services are unlikely to be enforced over the next 5 years in most EU countries, with the exception of Germany. There is broad-based, but by no means universal, support for a strong voluntary code of practice as an alternative to government regulations to protect consumers and to enable all stakeholders to recognise serious and reputable service providers. On the other hand, there are influential bodies calling for strict regulation. As genotyping costs rapidly fall, it is likely that it will become routine and a major challenge that does not seem to be addressed by current debate on regulations is the emergence of companies offering/selling personal genetic services based on a customer's pre-existing genetic results and therefore no actual laboratory testing involved.

  20. 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

  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. Genetic and Environmental Influences on Diagnostic and Statistical Manual of Mental Disorders-Fifth Edition (DSM-5) Maladaptive Personality Traits and Their Connections With Normative Personality Traits.

    PubMed

    Wright, Zara E; Pahlen, Shandell; Krueger, Robert F

    2017-04-03

    The Diagnostic and Statistical Manual for Mental Disorders-Fifth Edition (DSM-5) proposes an alternative model for personality disorders, which includes maladaptive-level personality traits. These traits can be operationalized by the Personality Inventory for the DSM-5 (PID-5). Although there has been extensive research on genetic and environmental influences on normative level personality, the heritability of the DSM-5 traits remains understudied. The present study addresses this gap in the literature by assessing traits indexed by the PID-5 and the International Personality Item Pool NEO (IPIP-NEO) in adult twins (N = 1,812 individuals). Research aims include (a) replicating past findings of the heritability of normative level personality as measured by the IPIP-NEO as a benchmark for studying maladaptive level traits, (b) ascertaining univariate heritability estimates of maladaptive level traits as measured by the PID-5, (c) establishing how much variation in personality pathology can be attributed to the same genetic components affecting variation in normative level personality, and (d) determining residual variance in personality pathology domains after variance attributable to genetic and environmental components of general personality has been removed. Results revealed that PID-5 traits reflect similar levels of heritability to that of IPIP-NEO traits. Further, maladaptive and normative level traits that correlate at the phenotypic level also correlate at the genotypic level, indicating overlapping genetic components contribute to variance in both. Nevertheless, we also found evidence for genetic and environmental components unique to maladaptive level personality traits, not shared with normative level traits. (PsycINFO Database Record

  3. Invited commentary: Personality phenotype and mortality--new avenues in genetic, social, and clinical epidemiology.

    PubMed

    Chapman, Benjamin P

    2013-09-01

    In this issue of the Journal, Jokela et al. (Am J Epidemiol. 2013;178(5):667-675) scrutinize the association between personality phenotype and all-cause mortality in remarkable detail by using an "individual-participant meta-analysis" design. Across 7 large cohorts varying in demographics and methods of personality measurement, they find varying prospective associations for 4 dimensions of the five-factor (or "Big Five") model of personality, but robust and consistent prospective associations for Big Five dimension of "conscientiousness." Jokela et al. place an important exclamation point on a long era of study of this topic and hint directly and indirectly at new avenues for this line of research. I consider the following 3 areas particularly rife for further inquiry: the role of genetics in personality and health studies; the role of personality in social inequalities in health; and the health policy and clinical implications of work like that of Jokela et al., including the potential role of personality phenotype in the evolution of personalized 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. 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.

  6. 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

  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. Commentary on Zohar's "Prospects for 'genetic therapy' -- can a person benefit from being altered?

    PubMed

    Kahn, Jeffrey P

    1991-10-01

    In his paper on the effects of Prenatal Genetic Intervention (PGI) on personal identity, Noam Zohar comes to a conclusion about genetic makeup and the uses of gene therapy quite different from the one I reach in another piece in this issue. Zohar's argument rests on the contention that personal identity changes with alteration of the genome, following what I have identified as the "constitutive" view. To see that this is the pillar supporting the weight of his argument, consider the following. Questions of identity aside, how can it be that altering the genome of children suffering from Lesch-Nyhan syndrome or Tay-Sachs disease so that they now produce the enzyme that they formerly lacked does not benefit them? Clearly, if their identities were not changed, such individuals would in fact realize great benefit from PGI, since the devastating bad effects of the genetic flaw would be avoided. Such a change would certainly make the altered individuals better off, that is, it would benefit them. On this, Zohar and I do not disagree. Persistence of identity through such genetic change is the sticking point.

  14. 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

  15. Genome-wide association uncovers shared genetic effects among personality traits and mood states

    PubMed Central

    Luciano, Michelle; Huffman, Jennifer E; Arias-Vásquez, Alejandro; Vinkhuyzen, Anna AE; Middeldorp, Christel M; Giegling, Ina; Payton, Antony; Davies, Gail; Zgaga, Lina; Janzing, Joost; Ke, Xiayi; Galesloot, Tessel; Hartmann, Annette M; Ollier, William; Tenesa, Albert; Hayward, Caroline; Verhagen, Maaike; Montgomery, Grant W; Hottenga, Jouke-Jan; Konte, Bettina; Starr, John M; Vitart, Veronique; Vos, Pieter E; Madden, Pamela AF; Willemsen, Gonneke; Konnerth, Heike; Horan, Michael A; Porteous, David J; Campbell, Harry; Vermeulen, Sita H; Heath, Andrew C; Wright, Alan; Polasek, Ozren; Kovacevic, Sanja B; Hastie, Nicholas D; Franke, Barbara; Boomsma, Dorret I; Martin, Nicholas G; Rujescu, Dan; Wilson, James F; Buitelaar, Jan; Pendleton, Neil; Rudan, Igor; Deary, Ian J

    2013-01-01

    Measures of personality and psychological distress are correlated and exhibit genetic covariance. We conducted univariate genome-wide SNP (~2.5 million) and gene-based association analyses of these traits and examined the overlap in results across traits, including a prediction analysis of mood states using genetic polygenic scores for personality. Measures of neuroticism, extraversion, and symptoms of anxiety, depression, and general psychological distress were collected in eight European cohorts (n ranged 546 to 1 338; maximum total n=6 268) whose mean age ranged from 55 to 79 years. Meta-analysis of the cohort results was performed, with follow-up associations of the top SNPs and genes investigated in independent cohorts (n=527 to 6 032). Suggestive association (P=8×10−8) of rs1079196 in the FHIT gene was observed with symptoms of anxiety. Other notable associations (P<6.09×10−6) included SNPs in five genes for neuroticism (LCE3C, POLR3A, LMAN1L, ULK3, SCAMP2), KIAA0802 for extraversion, and NOS1 for general psychological distress. An association between symptoms of depression and rs7582472 (near to MGAT5 and NCKAP5) was replicated in two independent samples, but other replication findings were less consistent. Gene-based tests identified a significant locus on chromosome 15 (spanning five genes) associated with neuroticism which replicated (P<0.05) in an independent cohort. Support for common genetic effects among personality and mood (particularly neuroticism and depressive symptoms) was found in terms of SNP association overlap and polygenic score prediction. The variance explained by individual SNPs was very small (up to 1%) confirming that there are no moderate/large effects of common SNPs on personality and related traits. PMID:22628180

  16. Pharmacogenetics: implications of race and ethnicity on defining genetic profiles for personalized medicine.

    PubMed

    Ortega, Victor E; Meyers, Deborah A

    2014-01-01

    Pharmacogenetics is being used to develop personalized therapies specific to subjects from different ethnic or racial groups. To date, pharmacogenetic studies have been primarily performed in trial cohorts consisting of non-Hispanic white subjects of European descent. A "bottleneck" or collapse of genetic diversity associated with the first human colonization of Europe during the Upper Paleolithic period, followed by the recent mixing of African, European, and Native American ancestries, has resulted in different ethnic groups with varying degrees of genetic diversity. Differences in genetic ancestry might introduce genetic variation, which has the potential to alter the therapeutic efficacy of commonly used asthma therapies, such as β2-adrenergic receptor agonists (β-agonists). Pharmacogenetic studies of admixed ethnic groups have been limited to small candidate gene association studies, of which the best example is the gene coding for the receptor target of β-agonist therapy, the β2-adrenergic receptor (ADRB2). Large consortium-based sequencing studies are using next-generation whole-genome sequencing to provide a diverse genome map of different admixed populations, which can be used for future pharmacogenetic studies. These studies will include candidate gene studies, genome-wide association studies, and whole-genome admixture-based approaches that account for ancestral genetic structure, complex haplotypes, gene-gene interactions, and rare variants to detect and replicate novel pharmacogenetic loci.

  17. [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.

  18. Genetic and environmental variation in Eysenck Personality Questionnaire scales measured on Australian adolescent twins.

    PubMed

    Macaskill, G T; Hopper, J L; White, V; Hill, D J

    1994-11-01

    The Eysenck Personality Questionnaire was administered to 1400 Australian twin pairs aged 11 to 18, and the data were analyzed by a multivariate normal model using the software FISHER. For each scale, attempts were made to transform to normality, about a mean modeled separately for each sex as a quadratic function of age. Variances and covariances were estimated for each sex-zygosity group as a monotone function of age. Evidence for genetic sources of variation were assessed in part by fitting models which allowed for age-dependent, sex-specific, and correlated additive genetic factors, and age-dependent and sex-specific environmental factors, under the assumption that effects of environmental factors common to twin pairs are independent of zygosity. Evidence for genetic factors independent of age and sex was most compelling for Psychoticism and Neuroticism. For Extraversion, if genetic factors exist they would be mostly sex-specific and age-dependent. For the Lie scale there was evidence for, at most, a small component of genetic variation.

  19. 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.

  20. 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

  1. Genetic influence on methadone treatment outcomes in patients undergoing methadone maintenance treatment for opioid addiction: a pilot study

    PubMed Central

    Samaan, Zainab; Bawor, Monica; Dennis, Brittany B; Plater, Carolyn; Varenbut, Michael; Daiter, Jeffrey; Worster, Andrew; Marsh, David C; Tan, Charlie; Desai, Dipika; Thabane, Lehana; Pare, Guillaume

    2014-01-01

    Introduction Treatment of opioid addiction with methadone is effective; however, it is known to produce interindividual variability. This may be influenced in part by genetic variants, which can increase the initial risk of developing opioid addiction as well as explain differences in response to treatment. This pilot study aimed to assess the feasibility of conducting a full-scale genetic analysis to identify genes that predict methadone treatment outcomes in this population. Methods This was a cross-sectional observational study of patients admitted to a methadone maintenance treatment program for opioid addiction. We obtained demographic and clinical characteristics in addition to blood and urine samples, for the assessment of treatment outcomes. Results The recruitment process yielded 252 patients, representing a 20% recruitment rate. We conducted genetic testing based on a 99.6% rate of provision of DNA samples. The average retention in treatment was 3.4 years, and >50% of the participants reported psychiatric and medical comorbidities. BDNF rs6265 and DRD2 rs1799978 were the common single nucleotide polymorphisms (SNPs) selected for the feasibility study. Discussion This study met our predetermined feasibility criteria; recruitment, response rates, and genetic testing were feasible; treatment duration was sufficient for follow up; and the prevalence of comorbid conditions indicated the need for reliable psychiatric and chronic pain measures. The study strengths included effective collaboration with clinics and the generalizability of sample population. Key learning points show the need for assessment of treatment outcomes on multiple domains, implementation of follow up, and the development of standardized training for the study clinical staff. PMID:25187714

  2. On the development of a decision support intervention for mothers undergoing BRCA1/2 cancer genetic testing regarding communicating test results to their children

    PubMed Central

    Peshkin, Beth N.; DeMarco, Tiffani A.; Tercyak, Kenneth P.

    2013-01-01

    Parent communication of BRCA1/2 test results to minor-age children is an important, yet understudied, clinical issue that is commonly raised in the management of familial cancer risk. Genetic counseling professionals and others who work with parents undergoing this form of testing often confront questions about the risks/benefits and timing of such disclosures, as well as the psychosocial impact of disclosure and nondisclosure on children’s health and development. This paper briefly reviews literature on the prevalence and outcome of parent-child communication surrounding maternal BRCA1/2 test results. It also describes a formative research process that was used to develop a decision support intervention for mothers participating in genetic counseling and testing for BRCA1/2 mutations to address this issue, and highlights the conceptual underpinnings that guided and informed the intervention’s development. The intervention consists of a print-based decision aid to facilitate parent education and counseling regarding if, when, and potentially how to disclose hereditary cancer risk information to children. We conclude with a summary of the role of social, behavioral, and decision science research to support the efforts of providers of familial cancer care regarding this important decision, and to improve the outcomes of cancer genetic testing for tested parents and their nontested children. PMID:19609726

  3. 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

  4. Genetic variation in MAOA modulates ventromedial prefrontal circuitry mediating individual differences in human personality.

    PubMed

    Buckholtz, J W; Callicott, J H; Kolachana, B; Hariri, A R; Goldberg, T E; Genderson, M; Egan, M F; Mattay, V S; Weinberger, D R; Meyer-Lindenberg, A

    2008-03-01

    Little is known about neural mechanisms underlying human personality and temperament, despite their considerable importance as highly heritable risk mediators for somatic and psychiatric disorders. To identify these circuits, we used a combined genetic and imaging approach focused on Monoamine Oxidase A (MAOA), encoding a key enzyme for monoamine metabolism previously associated with temperament and antisocial behavior. Male carriers of a low-expressing genetic variant exhibited dysregulated amygdala activation and increased functional coupling with ventromedial prefrontal cortex (vmPFC). Stronger coupling predicted increased harm avoidance and decreased reward dependence scores, suggesting that this circuitry mediates a part of the association of MAOA with these traits. We utilized path analysis to parse the effective connectivity within this system, and provide evidence that vmPFC regulates amygdala indirectly by influencing rostral cingulate cortex function. Our data implicate a neural circuit for variation in human personality under genetic control, provide an anatomically consistent mechanism for vmPFC-amygdala interactions underlying this variation, and suggest a role for vmPFC as a superordinate regulatory area for emotional arousal and social behavior.

  5. Psychopathic personality traits in 5 year old twins: the importance of genetic and shared environmental influences.

    PubMed

    Tuvblad, Catherine; Fanti, Kostas A; Andershed, Henrik; Colins, Olivier F; Larsson, Henrik

    2017-04-01

    There is limited research on the genetic and environmental bases of psychopathic personality traits in children. In this study, psychopathic personality traits were assessed in a total of 1189 5-year-old boys and girls drawn from the Preschool Twin Study in Sweden. Psychopathic personality traits were assessed with the Child Problematic Traits Inventory, a teacher-report measure of psychopathic personality traits in children ranging from 3 to 12 years old. Univariate results showed that genetic influences accounted for 57, 25, and 74 % of the variance in the grandiose-deceitful, callous-unemotional, and impulsive-need for stimulation dimensions, while the shared environment accounted for 17, 48 and 9 % (n.s.) in grandiose-deceitful and callous-unemotional, impulsive-need for stimulation dimensions, respectively. No sex differences were found in the genetic and environmental variance components. The non-shared environment accounted for the remaining 26, 27 and 17 % of the variance, respectively. The three dimensions of psychopathic personality were moderately correlated (0.54-0.66) and these correlations were primarily mediated by genetic and shared environmental factors. In contrast to research conducted with adolescent and adult twins, we found that both genetic and shared environmental factors influenced psychopathic personality traits in early childhood. These findings indicate that etiological models of psychopathic personality traits would benefit by taking developmental stages and processes into consideration.

  6. Genetic overlap between personality and risk for disordered gambling: evidence from a national community-based Australian twin study.

    PubMed

    Slutske, Wendy S; Cho, Seung Bin; Piasecki, Thomas M; Martin, Nicholas G

    2013-02-01

    Using data from a large Australian twin sample we examined the extent to which genetic variation in the Big Three personality dimensions (positive emotionality, negative emotionality, and constraint) and their lower-order components explained genetic variation in the risk for disordered gambling (DG) among men and women. Genetic influences contributing to individual differences in normal-range personality traits explained over 40% of the genetic risk for DG, with a larger contribution among women than among men. The largest and most robust contributions came from the higher-order personality dimension of negative emotionality and its two lower-order dimensions of alienation and aggression. Surprisingly, low self-control was associated with the genetic risk for DG only among women, and risk-taking/sensation-seeking did not explain genetic risk for DG in either sex. The results of this study have implications for the causes of comorbidity between DG and other psychiatric disorders, the search for genes associated with DG risk, and the possibility of sex differences in the etiology of DG. Using a broad-band inventory of personality supports the conclusion that there probably is a substantial proportion of genetic variation in DG that cannot be explained by individual differences in personality.

  7. 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

  8. 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.

  9. Using a genetic algorithm to abbreviate the Psychopathic Personality Inventory-Revised (PPI-R).

    PubMed

    Eisenbarth, Hedwig; Lilienfeld, Scott O; Yarkoni, Tal

    2015-03-01

    Some self-report measures of personality and personality disorders, including the widely used Psychopathic Personality Inventory-Revised (PPI-R), are lengthy and time-intensive. In recent work, we introduced an automated genetic algorithm (GA)-based method for abbreviating psychometric measures. In Study 1, we used this approach to generate a short (40-item) version of the PPI-R using 3 large-N German student samples (total N = 1,590). The abbreviated measure displayed high convergent correlations with the original PPI-R, and outperformed an alternative measure constructed using a conventional approach. Study 2 tested the convergent and discriminant validity of this short version in a fourth student sample (N = 206) using sensation-seeking and sensitivity to reward and punishment scales, again demonstrating similar convergent and discriminant validity for the PPI-R-40 compared with the full version. In a fifth community sample of North American participants acquired using Amazon Mechanical Turk, the PPI-R-40 showed similarly high convergent correlations, demonstrating stability across language, culture, and data-collection method. Taken together, these studies suggest that the GA approach is a viable method for abbreviating measures of psychopathy, and perhaps personality measures in general.

  10. A Genetic Variant (COMT) Coding Dopaminergic Activity Predicts Personality Traits in Healthy Elderly.

    PubMed

    Kotyuk, Eszter; Duchek, Janet; Head, Denise; Szekely, Anna; Goate, Alison M; Balota, David A

    2015-08-01

    Association studies between the NEO five factor personality inventory and COMT rs4680 have focused on young adults and the results have been inconsistent. However, personality and cortical changes with age may put older adults in a more sensitive range for detecting a relationship. The present study examined associations of COMT rs4680 and personality in older adults. Genetic association analyses were carried out between the NEO and the targeted COMT rs4680 in a large, well-characterized sample of healthy, cognitively normal older adults (N = 616, mean age = 69.26 years). Three significant associations were found: participants with GG genotype showed lower mean scores on Neuroticism (p = 0.039) and higher scores on Agreeableness (p = 0.020) and Conscientiousness (p = 0.006) than participants with AA or AG genotypes. These results suggest that older adults with higher COMT enzymatic activity (GG), therefore lower dopamine level, have lower Neuroticism scores, and higher Agreeableness and Conscientiousness scores. This is consistent with a recent model of phasic and tonic dopamine release suggesting that even though GG genotype is associated with lower tonic dopamine release, the phasic release of dopamine might be optimal for a more adaptive personality profile.

  11. A Genetic Variant (COMT) Coding Dopaminergic Activity Predicts Personality Traits in Healthy Elderly

    PubMed Central

    Kotyuk, Eszter; Duchek, Janet; Head, Denise; Szekely, Anna; Goate, Alison M.; Balota, David A.

    2015-01-01

    Association studies between the NEO five factor personality inventory and COMT rs4680 have focused on young adults and the results have been inconsistent. However, personality and cortical changes with age may put older adults in a more sensitive range for detecting a relationship. The present study examined associations of COMT rs4680 and personality in older adults. Genetic association analyses were carried out between the NEO and the targeted COMT rs4680 in a large, well-characterized sample of healthy, cognitively normal older adults (N = 616, mean age = 69.26 years). Three significant associations were found: participants with GG genotype showed lower mean scores on Neuroticism (p = 0.039) and higher scores on Agreeableness (p = 0.020) and Conscientiousness (p = 0.006) than participants with AA or AG genotypes. These results suggest that older adults with higher COMT enzymatic activity (GG), therefore lower dopamine level, have lower Neuroticism scores, and higher Agreeableness and Conscientiousness scores. This is consistent with a recent model of phasic and tonic dopamine release suggesting that even though GG genotype is associated with lower tonic dopamine release, the phasic release of dopamine might be optimal for a more adaptive personality profile. PMID:25960587

  12. 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.

  13. French women's breast self-examination practices with time after undergoing BRCA1/2 genetic testing.

    PubMed

    Maheu, C; Apostolidis, T; Petri-Cal, A; Mouret-Fourme, E; Gauthier-Villars, M; Lasset, C; Berthet, P; Fricker, J-P; Caron, O; Luporsi, E; Gladieff, L; Noguès, C; Julian-Reynier, C

    2012-06-01

    To assess the impact of BRCA1/2 genetic test results on cancer-free women's breast-self-examination (BSE) practices and to prospectively determine their influence on psychological functioning. A prospective longitudinal study on French women's BSE practices and frequencies in BRCA1/2 carriers (N = 217) and non-carriers (N = 313) 1 and 2 years following disclosure of the test results, along with psychological factors predicting BSE practices. Before disclosure, BSE was practised by 47.2% of the women, and increased to 57.3% 1 year later. No change in the women's practices was noted between 12 and 24 months after the test. Carriers and non-carriers practicing regularly BSE at baseline were, respectively 8 to 6 times more likely to be practising BSE regularly at 12 months after being tested. Among the carriers, having fewer depressive symptoms at baseline and believing in the ability of BSE to detect breast cancer were found to be the most decisive factors associated with BSE practices 1 year after disclosure, following adjustment for BSE baseline practices. Among the non-carriers, believing in the ability of BSE to detect breast cancer, greater post-test anxiety, and a higher perceived risk of breast cancer were found to be predictors of post-test BSE practices after adjusting for BSE baseline practices. In France, where performing BSE is neither mandatory nor recommended, an increase in BSE practices was found to occur after disclosure of women's genetic test results, regardless of their carrier status.

  14. Development of a concept for a personalized approach in the perioperative antiplatelet therapy administration/discontinuation management based on multiple electrode aggregometry in patients undergoing coronary artery surgery.

    PubMed

    Petricevic, Mate; Milicic, Davor; White, Alexandra; Boban, Marko; Mihaljevic, Martina Zrno; Piljic, Dragan; Rotim, Ante; Buca, Ante; Mihalj, Mario; Biocina, Bojan

    2015-10-01

    In patients undergoing coronary artery surgery, improvements in clinical outcomes currently rely on continued refinements of the surgical technique and modulation of adjuvant pharmacotherapy. Despite medical and technological advances, negligible rate of bleeding and ischemic events still persist necessitating further improvements in patient management. Platelet function testing (PFT) might play an important role in meticulous balancing between the risk of bleeding and thrombotic events. A suitable balance can be achieved by implementing a personalized, PFT based approach in antiplatelet therapy (APT) administration/discontinuation management. Despite emerging evidence on the widespread variability in platelet inhibitory response to APT, numerous PFT devices and heterogeneity in reporting study results hamper pooling of the evidence which in turn results with a lack of consensus in "on treatment" platelet reactivity associated with ischemic and bleeding events in perioperative phase. The literature on multiple electrode aggregometry (Multiplate(®); Roche Diagnostics, Mannheim, Germany) in coronary artery disease patients was reviewed systematically. Based on the evidence evaluating the relationship between "drug specific" PFT and bleeding or adverse ischemic events, we sought to define therapeutic window for the most commonly administered antiplatelet drugs such as aspirin (ASPI test) and adenosine-diphosphate receptor blockers (ADP test). Preoperatively, APT administration was primarily focused to avoid bleeding complications. ASPI test value of 20 AUC and ADP test value of <73 AUC were set as cut-off values that delineate bleeding tendency. Postoperatively, "therapeutic window" was set to avoid both bleeding and adverse ischemic events. Therapeutic ranges were as follows: 20 AUC < ASPItest ≤ 30 AUC and 19AUC < ADP ≤ 46AUC, respectively. This is the first attempt to define PFT based "therapeutic window" according to, perioperative APT administration

  15. Widespread evidence for non-additive genetic variation in Cloninger's and Eysenck's personality dimensions using a twin plus sibling design.

    PubMed

    Keller, Matthew C; Coventry, William L; Heath, Andrew C; Martin, Nicholas G

    2005-11-01

    Studies using the classical twin design often conclude that most genetic variation underlying personality is additive in nature. However, studies analyzing only twins are very limited in their ability to detect non-additive genetic variation and are unable to detect sources of variation unique to twins, which can mask non-additive genetic variation. The current study assessed 9672 MZ and DZ twin individuals and 3241 of their siblings to investigate the environmental and genetic architecture underlying eight dimensions of personality: four from Eysenck's Personality Questionnaire and four from Cloninger's Temperament and Character Inventory. Broad-sense heritability estimates from best-fitting models were two to three times greater than the narrow-sense heritability estimates for Harm Avoidance, Novelty Seeking, Reward Dependence, Persistence, Extraversion, and Neuroticism. This genetic non-additivity could be due to dominance, additive-by-additive epistasis, or to additive genetic effects combined with higher-order epistasis. Environmental effects unique to twins were detected for both Lie and Psychoticism but accounted for little overall variation. Our results illustrate the increased sensitivity afforded by extending the classical twin design to include siblings, and may provide clues to the evolutionary origins of genetic variation underlying personality.

  16. 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.

  17. Genetic and Environmental Structure of DSM-IV Criteria for Antisocial Personality Disorder: A Twin Study.

    PubMed

    Rosenström, Tom; Ystrom, Eivind; Torvik, Fartein Ask; Czajkowski, Nikolai Olavi; Gillespie, Nathan A; Aggen, Steven H; Krueger, Robert F; Kendler, Kenneth S; Reichborn-Kjennerud, Ted

    2017-01-21

    Results from previous studies on DSM-IV and DSM-5 Antisocial Personality Disorder (ASPD) have suggested that the construct is etiologically multidimensional. To our knowledge, however, the structure of genetic and environmental influences in ASPD has not been examined using an appropriate range of biometric models and diagnostic interviews. The 7 ASPD criteria (section A) were assessed in a population-based sample of 2794 Norwegian twins by a structured interview for DSM-IV personality disorders. Exploratory analyses were conducted at the phenotypic level. Multivariate biometric models, including both independent and common pathways, were compared. A single phenotypic factor was found, and the best-fitting biometric model was a single-factor common pathway model, with common-factor heritability of 51% (95% CI 40-67%). In other words, both genetic and environmental correlations between the ASPD criteria could be accounted for by a single common latent variable. The findings support the validity of ASPD as a unidimensional diagnostic construct.

  18. Brain aging in normal Egyptians: cognition, education, personality, genetic and immunological study.

    PubMed

    Elwan, Osamah; Madkour, Obsis; Elwan, Fadia; Mostafa, Mervat; Abbas Helmy, Azza; Abdel-Naseer, Maged; Abdel Shafy, Sanaa; El Faiuomy, Nervana

    2003-07-15

    Studying the cognitive and immunological changes that occur in old age as well as genetic function have been considered an important subject to differentiate between normal brain aging and early dementia especially Alzheimer's disease. The aim of this study is to stress on age-related neuropsychological and electrophysiological (P(300)) changes in normal Egyptian subjects, to throw light on the value of genetic (Apo-E(4) genotype) and immunological markers [interleukin-6 (IL-6) and intercellular adhesion molecules (ICAM-1) in the serum] as tools used in early detection of cognitive decline in cerebral aging. Ninety-four normal Egyptian subjects (below and above 60 years) were submitted to the following: (1) neuropsychological tests for testing memory, perception, psychomotor performance and attention, (2) Eysenck Personality Questionnaire (EPQ) for personality traits, (3) event-related potential study (P(300), latency and amplitude), (4) genetic test for detection of Apolipoprotein E genotype and (5) immunological studies including detection of the level of IL-6 and ICAM-1 in serum. There was a significant impairment of memory, psychomotor performance and perception in elderly subjects particularly males and subjects with low level of education. Regarding personality, significantly high scores were obtained in neuroticism scale of EPQ in elderly subjects. Apo-E(3)/E(3) was the most common genotype encountered in Egyptian subjects (49.1%). It was found that subjects with Apo-E(4) genotype did significantly worse in scores of intentional memory test (sensory memory) when compared with other genotypes. Statistically significant impairment in attention and sensory memory was found in subjects with high IL-6 level. This could not be detected in subjects with high ICAM-1 level. In conclusion, advancing age and lower levels of education are considered risk factors for cognitive decline in normal brain aging. Neuropsychological tests remain as the highly sensitive tools

  19. 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

  20. 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

    2016-07-11

    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.

  1. Does variance in drinking motives explain the genetic overlap between personality and alcohol use disorder symptoms? A twin study of young women

    PubMed Central

    Littlefield, Andrew K.; Agrawal, Arpana; Ellingson, Jarrod M.; Kristjansson, Sean; Madden, Pamela A. F.; Bucholz, Kathleen K.; Slutske, Wendy S.; Heath, Andrew C.; Sher, Kenneth J.

    2011-01-01

    Background Genetic risk for alcohol dependence has been shown to overlap with genetic factors contributing to variation in dimensions of personality. Though drinking motives have been posited as important mediators of the alcohol-personality relation, the extent to which the genetic covariance between alcohol use disorder (AUD) symptoms (i.e. abuse and dependence criteria) and personality is explained by genetic factors contributing to variation in drinking motives remains unclear. Methods Using data from 2,904 young adult female twins, the phenotypic and genetic associations among personality dimensions (constraint [measured by the Multidimensional Personality Questionnaire; Tellegen, 1982], conscientiousness, neuroticism, and agreeableness [measured by the NEO-PI; Costa & McCrae, 1985]), internal drinking motives (enhancement and coping motives [measured by the Drinking Motive Questionnaire; Cooper, 1994]), and AUD symptoms were tested. Results Significant genetic associations were found between all personality measures and AUD symptoms. Coping motives showed significant genetic overlap with AUD symptoms and most personality measures, whereas enhancement motives were not significantly heritable. Adjusting for coping motives, genetic correlations between AUD symptoms and traits of neuroticism and agreeableness were no longer statistically significant. Conclusions Findings suggest that genetic variation in drinking to cope might account for a considerable proportion of the genetic covariance between specific personality dimensions and AUD symptoms. PMID:21790670

  2. 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…

  3. Impact of genetic dynamics and single-cell heterogeneity on development of nonstandard personalized medicine strategies for cancer

    PubMed Central

    Beckman, Robert A.; Schemmann, Gunter S.; Yeang, Chen-Hsiang

    2012-01-01

    Cancers are heterogeneous and genetically unstable. Current practice of personalized medicine tailors therapy to heterogeneity between cancers of the same organ type. However, it does not yet systematically address heterogeneity at the single-cell level within a single individual’s cancer or the dynamic nature of cancer due to genetic and epigenetic change as well as transient functional changes. We have developed a mathematical model of personalized cancer therapy incorporating genetic evolutionary dynamics and single-cell heterogeneity, and have examined simulated clinical outcomes. Analyses of an illustrative case and a virtual clinical trial of over 3 million evaluable “patients” demonstrate that augmented (and sometimes counterintuitive) nonstandard personalized medicine strategies may lead to superior patient outcomes compared with the current personalized medicine approach. Current personalized medicine matches therapy to a tumor molecular profile at diagnosis and at tumor relapse or progression, generally focusing on the average, static, and current properties of the sample. Nonstandard strategies also consider minor subclones, dynamics, and predicted future tumor states. Our methods allow systematic study and evaluation of nonstandard personalized medicine strategies. These findings may, in turn, suggest global adjustments and enhancements to translational oncology research paradigms. PMID:22891318

  4. Factors Influencing the Decision-Making Process and Long-Term Interpersonal Outcomes for Parents Who Undergo Preimplantation Genetic Diagnosis for Fanconi Anemia: a Qualitative Investigation.

    PubMed

    Haude, K; McCarthy Veach, P; LeRoy, B; Zierhut, H

    2016-11-17

    Fanconi anemia (FA) is characterized by congenital malformations, progressive bone marrow failure, and predisposition to malignancy. Hematopoietic stem cell transplantation is used to treat FA, and best results are attained with sibling donors who are human leukocyte antigen (HLA) identical matches. Preimplantation genetic diagnosis (PGD) offers parents of an affected child the opportunity to have an unaffected child who is an HLA match. While some research has investigated parents' experiences during the PGD process, no published studies specifically address factors influencing their decision-making process and long-term interpersonal outcomes. The aims of this study are to: (1) examine parents' expectations and the influence of media, bioethics, and religion on their decision to undergo PGD; (2) examine parents' social support and emotional experiences during their PGD process; and (3) characterize long-term effects of PGD on relationship dynamics (partner, family, friends), others' attitudes, and parental regret. Nine parents participated in semi-structured interviews. Thematic analysis revealed their decision to use PGD was variously influenced by media, bioethics, and religion, in particular, affecting parents' initial confidence levels. Moreover, the PGD process was emotionally complex, with parents desiring varying amounts and types of support from different sources at different times. Parents reported others' attitudes towards them were similar or no different than before PGD. Parental regret regarding PGD was negligible. Results of this study will promote optimization of long-term care for FA families.

  5. Epstein-barr virus diversity in immunocompetent healthy persons: reassessment of the distribution of genetic variants.

    PubMed

    Ikeda, Tetsuya; Kobayashi, Ryo; Kogashiwa, Yasunao; Matsuda, Takehiro; Kohno, Naoyuki

    2014-02-01

    Epstein-Barr virus (EBV) has many strains; however, it remains unclear whether a causal relationship exists between different regions and viral genetic variants in healthy persons. This study was designed to examine the relationship between EBV strains in tonsils and adenoids and peripheral blood lymphocytes of the same individuals using different measurements of EBV strain polymorphism. This study examined whether EBV contains two or three copies of a tandem repeat sequence in the first intron of the BZLF-1 gene. The genotype of the virus from P3HR-1, designated Z*, yielded a 415-bp product, and this was distinguished from the smaller, 386-bp product obtained with the B95-8 virus, designated the Z genotype. Simultaneous sequence infections with Z and Z* genotypes were also detected in one of the tonsils examined, suggesting that more than one strain or variant of EBV genotype may be present in a specimen from the same subject. Co-infection with Z and Z* was recognized in two subjects, so variation of the EBV gene may be seen in at least two different strains of EBV. It was seen that Z and Z* strain-infected cells are constantly in flux through lymph nodes and/or the blood stream in healthy persons; therefore, these results indicated that EBV genome variants probably show no specific tissue distribution.

  6. 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.

  7. Genetic variability within the S100B gene influences the personality trait self-directedness.

    PubMed

    Suchankova, Petra; Baghaei, Fariba; Rosmond, Roland; Holm, Göran; Anckarsäter, Henrik; Ekman, Agneta

    2011-07-01

    Elevated serum levels of S100B have proven useful as an indicator of brain-injury but have also been shown in patients diagnosed with psychiatric disorders. Recently, associations were found between variations in the S100B gene and schizophrenia as well as bipolar affective disorder. The aim of the present study was to investigate whether some of these genetic variations influence general aspects of human behaviour as portrayed by normal dimensions of personality. Two single nucleotide polymorphisms within the S100B gene, 2757C>G and 5748C>T, were genotyped in two population based cohorts consisting of 42-year-old women (n=270) and 51-year-old men (n=247), respectively. The two polymorphisms were analysed with respect to personality traits assessed using the Temperament and Character Inventory (TCI). In men, the 2757C>G polymorphism was found to significantly influence the TCI dimension self-directedness with higher scores in 2757G homozygotes. A similar tendency towards association was seen in the female cohort; however, this correlation did not remain significant after correction for multiple comparisons. Furthermore, the 5748C>T polymorphism was highly associated with self-directedness in men. Self-directedness is an overall estimate of adaptive strategies to adjust behaviour to conceptual goals as well as coping strategies and is strongly correlated to general mental health and absence of personality disorder. These preliminary findings suggest that the S100B gene may be implicated not only in certain pathological brain conditions but also in processes involved in normal behaviour.

  8. A genetic risk tool for obesity predisposition assessment and personalized nutrition implementation based on macronutrient intake.

    PubMed

    Goni, Leticia; Cuervo, Marta; Milagro, Fermín I; Martínez, J Alfredo

    2015-01-01

    There is little evidence about genetic risk score (GRS)-diet interactions in order to provide personalized nutrition based on the genotype. The aim of the study was to assess the value of a GRS on obesity prediction and to further evaluate the interactions between the GRS and dietary intake on obesity. A total of 711 seekers of a Nutrigenetic Service were examined for anthropometric and body composition measurements and also for dietary habits and physical activity. Oral epithelial cells were collected for the identification of 16 SNPs (related with obesity or lipid metabolism) using DNA zip-coded beads. Genotypes were coded as 0, 1 or 2 according to the number of risk alleles, and the GRS was calculated by adding risk alleles with such a criterion. After being adjusted for gender, age, physical activity and energy intake, the GRS demonstrated that individuals carrying >7 risk alleles had in average 0.93 kg/m(2) of BMI, 1.69 % of body fat mass, 1.94 cm of waist circumference and 0.01 waist-to-height ratio more than the individuals with ≤7 risk alleles. Significant interactions for GRS and the consumption of energy, total protein, animal protein, vegetable protein, total fat, saturated fatty acids, polyunsaturated fatty acids, total carbohydrates, complex carbohydrates and fiber intake on adiposity traits were found after adjusted for confounders variables. The GRS confirmed that the high genetic risk group showed greater values of adiposity than the low risk group and demonstrated that macronutrient intake modifies the GRS association with adiposity traits.

  9. Genetics, genomics, and cancer risk assessment: State of the Art and Future Directions in the Era of Personalized Medicine.

    PubMed

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

    2011-01-01

    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.

  10. 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

  11. Evaluating Changes in Omega-3 Fatty Acid Intake after Receiving Personal FADS1 Genetic Information: A Randomized Nutrigenetic Intervention

    PubMed Central

    Roke, Kaitlin; Walton, Kathryn; Klingel, Shannon L.; Harnett, Amber; Subedi, Sanjeena; Haines, Jess; Mutch, David M.

    2017-01-01

    Nutrigenetics research is anticipated to lay the foundation for personalized dietary recommendations; however, it remains unclear if providing individuals with their personal genetic information changes dietary behaviors. Our objective was to evaluate if providing information for a common variant in the fatty acid desaturase 1 (FADS1) gene changed omega-3 fatty acid (FA) intake and blood levels in young female adults (18–25 years). Participants were randomized into Genetic (intervention) and Non-Genetic (control) groups, with measurements taken at Baseline and Final (12 weeks). Dietary intake of eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) was assessed using an omega-3 food frequency questionnaire. Red blood cell (RBC) FA content was quantified by gas chromatography. Implications of participation in a nutrigenetics study and awareness of omega-3 FAs were assessed with online questionnaires. Upon completion of the study, EPA and DHA intake increased significantly (p = 1.0 × 10−4) in all participants. This change was reflected by small increases in RBC %EPA. Participants in the Genetic group showed increased awareness of omega-3 terminology by the end of the study, reported that the dietary recommendations were more useful, and rated cost as a barrier to omega-3 consumption less often than those in the Non-Genetic group. Providing participants FADS1 genetic information did not appear to influence omega-3 intake during the 12 weeks, but did change perceptions and behaviors related to omega-3 FAs in this timeframe. PMID:28272299

  12. Evaluating Changes in Omega-3 Fatty Acid Intake after Receiving Personal FADS1 Genetic Information: A Randomized Nutrigenetic Intervention.

    PubMed

    Roke, Kaitlin; Walton, Kathryn; Klingel, Shannon L; Harnett, Amber; Subedi, Sanjeena; Haines, Jess; Mutch, David M

    2017-03-06

    Nutrigenetics research is anticipated to lay the foundation for personalized dietary recommendations; however, it remains unclear if providing individuals with their personal genetic information changes dietary behaviors. Our objective was to evaluate if providing information for a common variant in the fatty acid desaturase 1 (FADS1) gene changed omega-3 fatty acid (FA) intake and blood levels in young female adults (18-25 years). Participants were randomized into Genetic (intervention) and Non-Genetic (control) groups, with measurements taken at Baseline and Final (12 weeks). Dietary intake of eicosapentaenoic acid (EPA) and docosahexaenoic acid (DHA) was assessed using an omega-3 food frequency questionnaire. Red blood cell (RBC) FA content was quantified by gas chromatography. Implications of participation in a nutrigenetics study and awareness of omega-3 FAs were assessed with online questionnaires. Upon completion of the study, EPA and DHA intake increased significantly (p = 1.0 × 10(-4)) in all participants. This change was reflected by small increases in RBC %EPA. Participants in the Genetic group showed increased awareness of omega-3 terminology by the end of the study, reported that the dietary recommendations were more useful, and rated cost as a barrier to omega-3 consumption less often than those in the Non-Genetic group. Providing participants FADS1 genetic information did not appear to influence omega-3 intake during the 12 weeks, but did change perceptions and behaviors related to omega-3 FAs in this timeframe.

  13. 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.

  14. 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.

  15. 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…

  16. 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.

  17. 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.

  18. 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

  19. 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

  20. Do we know enough? A scientific and ethical analysis of the basis for genetic-based personalized nutrition.

    PubMed

    Görman, Ulf; Mathers, John C; Grimaldi, Keith A; Ahlgren, Jennie; Nordström, Karin

    2013-07-01

    This article discusses the prospects and limitations of the scientific basis for offering personalized nutrition advice based upon individual genetic information. Two divergent scientific positions are presented, with an ethical comment. The crucial question is whether the current knowledge base is sufficiently strong for taking an ethically responsible decision to offer personalized nutrition advice based upon gene-diet-health interaction. According to the first position, the evidence base for translating the outcomes of nutrigenomics research into personalized nutritional advice is as yet immature. There is also limited evidence that genotype-based dietary advice will motivate appropriate behavior changes. Filling the gaps in our knowledge will require larger and better randomized controlled trials. According to the second position, personalized nutrition must be evaluated in relation to generally accepted standard dietary advice-partly derived from epidemiological observations and usually not proven by clinical trials. With personalized nutrition, we cannot demand stronger evidence. In several specific cases of gene-diet interaction, it may be more beneficial for individuals with specific genotypes to follow personalized advice rather than general dietary recommendations. The ethical comment, finally, considers the ethical aspects of deciding how to proceed in the face of such uncertainty. Two approaches for an ethically responsible way forward are proposed. Arguing from a precautionary approach, it is suggested that personalized dietary advice should be offered only when there is strong scientific evidence for health effects, followed by stepwise evaluation of unforeseen behavioral and psychological effects. Arguing from theoretical and applied ethics as well as psychology, it is also suggested that personalized advice should avoid paternalism and instead focus on supporting the autonomous choice of each person.

  1. Three persons, three genetic contributors, three parents: Mitochondrial donation, genetic parenting and the immutable grammar of the 'three x x'.

    PubMed

    Dimond, Rebecca; Stephens, Neil

    2017-01-01

    In 2015, two novel in vitro fertilisation techniques intended to prevent the inheritance of mitochondrial disease were legalised in the United Kingdom, following an intense period of inquiry including scientific reviews, public consultations, government guidance and debates within the Houses of Parliament. The techniques were controversial because (1) they introduced a third genetic contributor into the reproductive process and (2) they are germline, meaning this genetic change could then be passed down to subsequent generations. Drawing on the social worlds framework with a focus on implicated actors and discursive strategies, this article explores key features of the UK mitochondrial debates as they played out in real time through policy documents and public debate. First, it situates the technology within a repertoire of metaphors, emotional terminology and their politics. It then explores the immutable grammar of 'three x x' that formed a key component of the political debate, by focusing on how institutional reviews discursively negotiated uncertainty around genetic parentage and how beneficiaries were implicated and rendered distant. Following the 2016 announcement of the first baby born through mitochondrial donation (in Mexico) and several pregnancies (in the Ukraine), we close with a discussion about the specific nature of UK regulation within a global economy. Overall, this article contributes to a much needed sociological discussion about mitochondrial donation, emerging reproductive technologies and the cultural significance of genetic material and genetic relatedness.

  2. 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

  3. Meta-analysis of Genome-Wide Association Studies for Extraversion: Findings from the Genetics of Personality Consortium.

    PubMed

    van den Berg, Stéphanie M; de Moor, Marleen H M; Verweij, Karin J H; Krueger, Robert F; Luciano, Michelle; Arias Vasquez, Alejandro; Matteson, Lindsay K; Derringer, Jaime; Esko, Tõnu; Amin, Najaf; Gordon, Scott D; Hansell, Narelle K; Hart, Amy B; Seppälä, Ilkka; Huffman, Jennifer E; Konte, Bettina; Lahti, Jari; Lee, Minyoung; Miller, Mike; Nutile, Teresa; Tanaka, Toshiko; Teumer, Alexander; Viktorin, Alexander; Wedenoja, Juho; Abdellaoui, Abdel; Abecasis, Goncalo R; Adkins, Daniel E; Agrawal, Arpana; Allik, Jüri; Appel, Katja; Bigdeli, Timothy B; Busonero, Fabio; Campbell, Harry; Costa, Paul T; Smith, George Davey; Davies, Gail; de Wit, Harriet; Ding, Jun; Engelhardt, Barbara E; Eriksson, Johan G; Fedko, Iryna O; Ferrucci, Luigi; Franke, Barbara; Giegling, Ina; Grucza, Richard; Hartmann, Annette M; Heath, Andrew C; Heinonen, Kati; Henders, Anjali K; Homuth, Georg; Hottenga, Jouke-Jan; Iacono, William G; Janzing, Joost; Jokela, Markus; Karlsson, Robert; Kemp, John P; Kirkpatrick, Matthew G; Latvala, Antti; Lehtimäki, Terho; Liewald, David C; Madden, Pamela A F; Magri, Chiara; Magnusson, Patrik K E; Marten, Jonathan; Maschio, Andrea; Mbarek, Hamdi; Medland, Sarah E; Mihailov, Evelin; Milaneschi, Yuri; Montgomery, Grant W; Nauck, Matthias; Nivard, Michel G; Ouwens, Klaasjan G; Palotie, Aarno; Pettersson, Erik; Polasek, Ozren; Qian, Yong; Pulkki-Råback, Laura; Raitakari, Olli T; Realo, Anu; Rose, Richard J; Ruggiero, Daniela; Schmidt, Carsten O; Slutske, Wendy S; Sorice, Rossella; Starr, John M; St Pourcain, Beate; Sutin, Angelina R; Timpson, Nicholas J; Trochet, Holly; Vermeulen, Sita; Vuoksimaa, Eero; Widen, Elisabeth; Wouda, Jasper; Wright, Margaret J; Zgaga, Lina; Porteous, David; Minelli, Alessandra; Palmer, Abraham A; Rujescu, Dan; Ciullo, Marina; Hayward, Caroline; Rudan, Igor; Metspalu, Andres; Kaprio, Jaakko; Deary, Ian J; Räikkönen, Katri; Wilson, James F; Keltikangas-Järvinen, Liisa; Bierut, Laura J; Hettema, John M; Grabe, Hans J; Penninx, Brenda W J H; van Duijn, Cornelia M; Evans, David M; Schlessinger, David; Pedersen, Nancy L; Terracciano, Antonio; McGue, Matt; Martin, Nicholas G; Boomsma, Dorret I

    2016-03-01

    Extraversion is a relatively stable and heritable personality trait associated with numerous psychosocial, lifestyle and health outcomes. Despite its substantial heritability, no genetic variants have been detected in previous genome-wide association (GWA) studies, which may be due to relatively small sample sizes of those studies. Here, we report on a large meta-analysis of GWA studies for extraversion in 63,030 subjects in 29 cohorts. Extraversion item data from multiple personality inventories were harmonized across inventories and cohorts. No genome-wide significant associations were found at the single nucleotide polymorphism (SNP) level but there was one significant hit at the gene level for a long non-coding RNA site (LOC101928162). Genome-wide complex trait analysis in two large cohorts showed that the additive variance explained by common SNPs was not significantly different from zero, but polygenic risk scores, weighted using linkage information, significantly predicted extraversion scores in an independent cohort. These results show that extraversion is a highly polygenic personality trait, with an architecture possibly different from other complex human traits, including other personality traits. Future studies are required to further determine which genetic variants, by what modes of gene action, constitute the heritable nature of extraversion.

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

    PubMed Central

    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

    2015-01-01

    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 six 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

  5. 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.

  6. 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

  7. Applied investigation of person-specific and context-specific factors on postoperative recovery and clinical outcomes of patients undergoing gastrointestinal cancer surgery: multicentre European study

    PubMed Central

    Markar, Sheraz R; Mavroveli, Stella; Petrides, Konstantinos V; Scarpa, Marco; Christophe, Veronique; Castoro, Carlo; Mariette, Christophe; Lagergren, Pernilla; Hanna, George B

    2016-01-01

    Introduction Cancer treatments have greatly advanced over the past two decades causing survival improvements and reduced complications from cancer surgery. However, the cancer diagnosis and the effects of treatment modalities pose a major risk to patients' psychological well-being. Given current interest and emerging evidence about the importance of psychological and social factors on cancer survival and coping with cancer treatments, this study will build and expand research in order to identify key modifiable psychosocial variables that contribute to better physical and mental health following gastrointestinal cancer (GIC) surgery. Objectives To elucidate the incidence of postoperative psychiatric morbidity within 6 months following GIC surgery. To identify key measurable modifiable preoperative psychological factors that can significantly affect postoperative psychiatric morbidity in patients undergoing surgery for GIC. To clarify the changes seen in a patient's psychological well-being during their treatment pathway for GIC. Methods and analysis This multicentre study has an observational longitudinal study design. In total, 1000 patients will be screened with a multicomponent psychological questionnaire at four different time points: at diagnosis, preoperatively, 1 and 6 months after surgery. Data from this questionnaire will be linked to postoperative complications including psychiatric morbidity, length of hospital stay and recovery to normal activity. Ethics and dissemination NHS Health Research Authority approval was gained on (REC reference 15.LO/1847) for the completion of this study. Multiple platforms will be used for the dissemination of the research data, including international clinical and patient group presentations and publication of research outputs in a high impact clinical journal. PMID:27798009

  8. 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

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

    PubMed

    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.

  10. 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

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

    PubMed

    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

    2014-04-01

    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.

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

    PubMed

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

    2016-05-19

    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.

  13. 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

  14. Predictors of heart-focused anxiety in patients undergoing genetic investigation and counseling of long QT syndrome or hypertrophic cardiomyopathy: a one year follow-up.

    PubMed

    Hamang, Anniken; Eide, Geir Egil; Rokne, Berit; Nordin, Karin; Bjorvatn, Cathrine; Øyen, Nina

    2012-02-01

    Since Long QT syndrome and Hypertrophic cardiomyopathy are inherited cardiac disorders that may cause syncope, palpitations, serious arrhythmias, and sudden cardiac death, at-risk individuals may experience heart-focused anxiety. In a prospective multi-site study, 126 Norwegian patients attending genetic counseling were followed 1 year with multiple administration of questionnaires, including the Cardiac Anxiety Questionnaire, measuring three distinct symptoms of heart-focused anxiety- avoidance, attention, and fear-in mixed linear analyses. Overall, at 1-year follow-up, patients with clinical diagnosis as compared to patients at genetic risk had significantly higher scores of avoidance (p < .002), attention (p < .005), and fear (p < .007). Sudden cardiac death in close relatives, uncertainty whether other relatives previously had undergone genetic testing, patients' perceived general health, self-efficacy expectations and procedural satisfaction with genetic counseling were influential in predicting the different symptoms of heart-focused anxiety over time.

  15. Arm-eye coordination test to objectively quantify motor performance and muscles activation in persons after stroke undergoing robot-aided rehabilitation training: a pilot study.

    PubMed

    Song, Rong; Tong, Kai-Yu; Hu, Xiaoling; Li, Le; Sun, Rui

    2013-09-01

    This study designed an arm-eye coordination test to investigate the effectiveness of the robot-aided rehabilitation for persons after stroke. Six chronic poststroke subjects were recruited to attend a 20-session robot-aided rehabilitation training of elbow joint. Before and after the training program, subjects were asked to perform voluntary movements of elbow flection and extension by following sinusoidal trajectories at different velocities with visual feedback on their joint positions. The elbow angle and the electromyographic signal of biceps and triceps as well as clinical scores were evaluated together with the parameters. Performance was objectively quantified by root mean square error (RMSE), root mean square jerk (RMSJ), range of motion (ROM), and co-contraction index (CI). After 20 sessions, RMSE and ROM improved significantly in both the affected and the unaffected side based on two-way ANOVA (P < 0.05). There was significant lower RMSJ in the affected side at higher velocities (P < 0.05). There was significant negative correlation between average RMSE with different tracking velocities and Fugl-Meyer shoulder-elbow score (P < 0.05). There was also significant negative correlation between average RMSE and average ROM (P < 0.05), and moderate nonsignificant negative correlation with RMSJ, and CI. The characterization of velocity-dependent deficiencies, monitoring of training-induced improvement, and the correlation between quantitative parameters and clinical scales could enable the exploration of effects of different types of treatment and design progress-based training method to accelerate the processes of recovery.

  16. Genetic counselors' current use of personal health records-based family histories in genetic clinics and considerations for their future adoption.

    PubMed

    Widmer, Chaney; Deshazo, Jonathan P; Bodurtha, Joann; Quillin, John; Creswick, Heather

    2013-06-01

    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.

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

    PubMed

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

    2016-02-03

    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.

  18. 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

  19. 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 ...

  20. Personalized Media: A Genetically Informative Investigation of Individual Differences in Online Media Use

    PubMed Central

    Ayorech, Ziada; von Stumm, Sophie; Haworth, Claire M. A.; Davis, Oliver S. P.; Plomin, Robert

    2017-01-01

    Online media use has become an increasingly important behavioral domain over the past decade. However, studies into the etiology of individual differences in media use have focused primarily on pathological use. Here, for the first time, we test the genetic influences on online media use in a UK representative sample of 16 year old twins, who were assessed on time spent on educational (N = 2,585 twin pairs) and entertainment websites (N = 2,614 twin pairs), time spent gaming online (N = 2,635 twin pairs), and Facebook use (N = 4,333 twin pairs). Heritability was substantial for all forms of online media use, ranging from 34% for educational sites to 37% for entertainment sites and 39% for gaming. Furthermore, genetics accounted for 24% of the variance in Facebook use. Our results support an active model of the environment, where young people choose their online engagements in line with their genetic propensities. PMID:28114386

  1. Personalized Media: A Genetically Informative Investigation of Individual Differences in Online Media Use.

    PubMed

    Ayorech, Ziada; von Stumm, Sophie; Haworth, Claire M A; Davis, Oliver S P; Plomin, Robert

    2017-01-01

    Online media use has become an increasingly important behavioral domain over the past decade. However, studies into the etiology of individual differences in media use have focused primarily on pathological use. Here, for the first time, we test the genetic influences on online media use in a UK representative sample of 16 year old twins, who were assessed on time spent on educational (N = 2,585 twin pairs) and entertainment websites (N = 2,614 twin pairs), time spent gaming online (N = 2,635 twin pairs), and Facebook use (N = 4,333 twin pairs). Heritability was substantial for all forms of online media use, ranging from 34% for educational sites to 37% for entertainment sites and 39% for gaming. Furthermore, genetics accounted for 24% of the variance in Facebook use. Our results support an active model of the environment, where young people choose their online engagements in line with their genetic propensities.

  2. 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

  3. 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.

  4. Genetic variability within the innate immune system influences personality traits in women.

    PubMed

    Suchankova, P; Henningsson, S; Baghaei, F; Rosmond, R; Holm, G; Ekman, A

    2009-03-01

    Raised levels of inflammation markers have been associated with several mental disorders; however, studies regarding the relationship between inflammation or the immune system and various aspects of human behaviour are not numerous. The aim of the present study was to investigate whether an association exists between personality traits and two single nucleotide polymorphisms located in genes that are associated with the innate immune system. The studied population consisted of 42-year-old women recruited from the population registry that had been assessed by means of Karolinska Scales of Personality, a self-reported inventory. The first polymorphism, +1444C>T (rs1130864), is located in the gene coding for C-reactive protein (CRP), a marker of low-grade inflammation. The T-allele has previously been suggested to be linked to raised serum levels of CRP. The second polymorphism, Y402H (1277T>C, rs1061170), is located in the gene coding for complement factor H, an important regulator of the complement system. The C-allele has consistently been associated with age-related macular degeneration. While the +1444T allele was associated with higher scores in the personality traits impulsiveness, monotony avoidance and social desirability, the 1277C polymorphism was associated with higher scores in verbal aggression and lower scores in social desirability. In conclusion, the associations between the personality traits and the studied polymorphisms further support the possible influence of the immune system on mental functions.

  5. 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…

  6. 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

  7. 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

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

    PubMed

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

    2015-04-01

    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.

  9. 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

  10. From pediatric history. Important personalities in relation to some genetic defects - "trisomies".

    PubMed

    Brucknerova, Ingrid; Holomanova, Anna; Mach, Mojmir; Ujhazy, Eduard

    2012-01-01

    The aim of this study is to present a short biography of some important physicians and describe the most prominent differences between trisomy 13, 18 and 21. The authors present the most prominent differences between trisomy 13, 18 and 21. The work of many important physicians, geneticists, has helped in the process of recognition of congenital anomalies. This group of famous persons includes Patau, Edwards and Down.

  11. 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.

  12. Parkinsonian motor impairment predicts personality domains related to genetic risk and treatment outcomes in schizophrenia.

    PubMed

    Molina, Juan L; Calvó, María; Padilla, Eduardo; Balda, Mara; Alemán, Gabriela González; Florenzano, Néstor V; Guerrero, Gonzalo; Kamis, Danielle; Rangeon, Beatriz Molina; Bourdieu, Mercedes; Strejilevich, Sergio A; Conesa, Horacio A; Escobar, Javier I; Zwir, Igor; Cloninger, C Robert; de Erausquin, Gabriel A

    2017-01-01

    Identifying endophenotypes of schizophrenia is of critical importance and has profound implications on clinical practice. Here we propose an innovative approach to clarify the mechanims through which temperament and character deviance relates to risk for schizophrenia and predict long-term treatment outcomes. We recruited 61 antipsychotic naïve subjects with chronic schizophrenia, 99 unaffected relatives, and 68 healthy controls from rural communities in the Central Andes. Diagnosis was ascertained with the Schedules of Clinical Assessment in Neuropsychiatry; parkinsonian motor impairment was measured with the Unified Parkinson's Disease Rating Scale; mesencephalic parenchyma was evaluated with transcranial ultrasound; and personality traits were assessed using the Temperament and Character Inventory. Ten-year outcome data was available for ~40% of the index cases. Patients with schizophrenia had higher harm avoidance and self-transcendence (ST), and lower reward dependence (RD), cooperativeness (CO), and self-directedness (SD). Unaffected relatives had higher ST and lower CO and SD. Parkinsonism reliably predicted RD, CO, and SD after correcting for age and sex. The average duration of untreated psychosis (DUP) was over 5 years. Further, SD was anticorrelated with DUP and antipsychotic dosing at follow-up. Baseline DUP was related to antipsychotic dose-years. Further, 'explosive/borderline', 'methodical/obsessive', and 'disorganized/schizotypal' personality profiles were associated with increased risk of schizophrenia. Parkinsonism predicts core personality features and treatment outcomes in schizophrenia. Our study suggests that RD, CO, and SD are endophenotypes of the disease that may, in part, be mediated by dopaminergic function. Further, SD is an important determinant of treatment course and outcome.

  13. Parkinsonian motor impairment predicts personality domains related to genetic risk and treatment outcomes in schizophrenia

    PubMed Central

    Molina, Juan L; Calvó, María; Padilla, Eduardo; Balda, Mara; Alemán, Gabriela González; Florenzano, Néstor V; Guerrero, Gonzalo; Kamis, Danielle; Rangeon, Beatriz Molina; Bourdieu, Mercedes; Strejilevich, Sergio A; Conesa, Horacio A; Escobar, Javier I; Zwir, Igor; Cloninger, C Robert; de Erausquin, Gabriel A

    2017-01-01

    Identifying endophenotypes of schizophrenia is of critical importance and has profound implications on clinical practice. Here we propose an innovative approach to clarify the mechanims through which temperament and character deviance relates to risk for schizophrenia and predict long-term treatment outcomes. We recruited 61 antipsychotic naïve subjects with chronic schizophrenia, 99 unaffected relatives, and 68 healthy controls from rural communities in the Central Andes. Diagnosis was ascertained with the Schedules of Clinical Assessment in Neuropsychiatry; parkinsonian motor impairment was measured with the Unified Parkinson’s Disease Rating Scale; mesencephalic parenchyma was evaluated with transcranial ultrasound; and personality traits were assessed using the Temperament and Character Inventory. Ten-year outcome data was available for ~40% of the index cases. Patients with schizophrenia had higher harm avoidance and self-transcendence (ST), and lower reward dependence (RD), cooperativeness (CO), and self-directedness (SD). Unaffected relatives had higher ST and lower CO and SD. Parkinsonism reliably predicted RD, CO, and SD after correcting for age and sex. The average duration of untreated psychosis (DUP) was over 5 years. Further, SD was anticorrelated with DUP and antipsychotic dosing at follow-up. Baseline DUP was related to antipsychotic dose-years. Further, ‘explosive/borderline’, ‘methodical/obsessive’, and ‘disorganized/schizotypal’ personality profiles were associated with increased risk of schizophrenia. Parkinsonism predicts core personality features and treatment outcomes in schizophrenia. Our study suggests that RD, CO, and SD are endophenotypes of the disease that may, in part, be mediated by dopaminergic function. Further, SD is an important determinant of treatment course and outcome. PMID:28127577

  14. Plasma BDNF concentration, Val66Met genetic variant and depression-related personality traits.

    PubMed

    Terracciano, A; Martin, B; Ansari, D; Tanaka, T; Ferrucci, L; Maudsley, S; Mattson, M P; Costa, P T

    2010-07-01

    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.

  15. Incremental effect for antisocial personality disorder genetic risk combining 5-HTTLPR and 5-HTTVNTR polymorphisms.

    PubMed

    Garcia, Luis F; Aluja, Anton; Fibla, Joan; Cuevas, Lara; García, Oscar

    2010-05-15

    As the serotonin transporter gene (SLC6A4 or 5-HTT) is a key regulator of central serotonergic activity, several association studies between Antisocial Personality Disorder (APD) and the SLC6A4 polymorphisms have been conducted in the last decade. In the present study, the role of both 5-HTTLPR and 5-HTTVNTR polymorphisms of the SLC6A4 gene in APD is investigated. A sample of 147 male inmates was analyzed. APD was assessed by Aluja's Antisocial Personality Disorder Scale, a measure that correlates 0.73 with the dimensional score of DSM-IV APD and 0.62 with factor II of the Psychopathy Checklist-Revised. Inmates presenting both 5-HTTLPR S/S+S/L and 5-HTTVNTR 12/12 had a higher risk of being classified in the APD group (Odds ratio=3.48). The results also showed that the genotype and haplotype distribution was more dissimilar when extreme groups were compared with odds ratios up to 6.50. Our results supported that, in addition to the widely investigated 5-HTTLPR polymorphism, the 5-HTTVNTR polymorphism might be an interesting candidate for association studies with APD. Results also suggested that previous failures to replicate the association between serotonin transporter gene polymorphisms and APD, or similar phenotypes, could have been due to an under-representation of extremely high APD subjects in the samples analyzed.

  16. 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.

  17. [The homosexual as a "molesting personality". Nikolaus Jensch and his psychiatric-genetic studies].

    PubMed

    Wolfert, Raimund; Steinberg, H

    2009-08-01

    For the first time ever, this study presents facts on the biography of Nikolaus Jensch (1913 - 1964), who worked in Wroclav, Leipzig, Strasbourg and Bremen, and on his psychiatric-genetic studies on homosexuality during the Nazi regime. Jensch tried, under methodologically rather doubtful presuppositions, to separate "genuine" from so-called "pseudo-homosexuals", who for him were receptive to psychotherapeutic and educational intervention. Ultimately he aimed to establish an empiric prediction as to the heredity of homosexuality, although even that would not exculpate homosexuals from prosecution. In a different study he analysed the curing effects of castration for homosexuality and other sexual deviances. Although acknowledging the mutilating character of castration and its due to high recrudescence rates rather poor therapeutic outcome, he never pleaded to refrain from this intervention.

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

    PubMed Central

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

    2014-01-01

    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

  19. Genetic variation in the hypothalamic-pituitary-adrenocortical axis regulatory factor, T-box 19, and the angry/hostility personality trait.

    PubMed

    Wasserman, D; Geijer, T; Sokolowski, M; Rozanov, V; Wasserman, J

    2007-06-01

    Neurotic personality traits are important factors in several psychiatric disorders and suicidal behavior. Here, we have investigated the existence of potential relationships between neurotic personality traits and genetic variation. Non-suicidal parents derived from trios (suicide attempter and both parents) and non-suicidal volunteers, examined by the Neuroticism, Extraversion and Openness (NEO) Personality Inventory - Revised (NEO PI-R), were divided into screening and replication samples. The screening sample (n= 127) was used to select potential relationships between neurotic personality traits and genetic variation among 130 single nucleotide polymorphisms (SNPs). Screening (analysis of variance) with regard to the personality dimension neuroticism indicated potential relationships at three different loci. More detailed analysis of these three SNPs at NEO PI-R facet level indicated four potential relationships. T-test analysis in the replication sample (n= 617) was used to retest the relationships indicated during screening. One of those relationships was confirmed in the replication sample (P= 0.0052; Bonferroni correction), indicating that genetic variation at the human T-box 19 (TBX19) locus is related to the personality trait angry/hostility. Furthermore, using analysis of haplotypes among trios by transmission disequilibrium test and its extension, the family-based association test, overtransmission of a haplotype GAC at the TBX19 locus was associated with increased angry/hostility scores among suicide attempters (P= 0.009; Bonferroni correction). This is to our knowledge the first report on the association of the angry hostility personality trait with genetic variation at the TBX19 locus, an important regulator of the hypothalamic-pituitary-adrenocortical axis.

  20. 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.

  1. 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

  2. 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

  3. 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.

  4. Using Genetics for Personalized Management of Heritable Thoracic Aortic Disease: How Do We Get There?

    PubMed Central

    Milewicz, Dianna M.; Regalado, Ellen S.

    2015-01-01

    The major diseases affecting the thoracic aorta are aortic aneurysms and acute aortic dissections (TAAD). Medical treatments can slow the enlargement of aneurysms, but the mainstay of treatment to prevent premature deaths due to dissections is surgical repair of the TAA, typically recommended when the aortic diameter reaches 5.0 – 5.5 cm. Studies on patients with acute aortic dissections indicate that up to 60% occur at aortic diameters less than 5.5 cm. Clinical predictors are thus needed to identify those at risk for dissection at aortic diameter less 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 over the past decade have established that mutations in specific genes can identify patients at risk for the disease and predict the risk of early dissection at diameters less than 5.0 cm. This information has the potential to optimize the timing of aortic surgery to prevent acute dissections. PMID:25218541

  5. 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

  6. Jumping on the Train of Personalized Medicine: A Primer for Non-Geneticist Clinicians: Part 1. Fundamental Concepts in Molecular Genetics

    PubMed Central

    Li, Aihua; Meyre, David

    2014-01-01

    With the decrease in sequencing cost and the rise of companies providing sequencing services, it is likely that personalized whole-genome sequencing will eventually become an instrument of common medical practice. We write this series of three reviews to help non-geneticist clinicians get ready for the major breakthroughs that are likely to occur in the coming years in the fast-moving field of personalized medicine. This first paper focuses on the fundamental concepts of molecular genetics. We review how recombination occurs during meiosis, how de novo genetic variations including single nucleotide polymorphisms (SNPs), insertions and deletions are generated and how they are inherited from one generation to the next. We detail how genetic variants can impact protein expression and function, and summarize the main characteristics of the human genome. We also explain how the achievements of the Human Genome Project, the HapMap Project, and more recently, the 1000 Genomes Project, have boosted the identification of genetic variants contributing to common diseases in human populations. The second and third papers will focus on genetic epidemiology and clinical applications in personalized medicine. PMID:25132812

  7. Decreased CD95 expression on naive T cells from HIV-infected persons undergoing highly active anti-retroviral therapy (HAART) and the influence of IL-2 low dose administration

    PubMed Central

    Amendola, A; Poccia, F; Martini, F; Gioia, C; Galati, V; Pierdominici, M; Marziali, M; Pandolfi, F; Colizzi, V; Piacentini, M; Girardi, E; D'Offizi, G

    2000-01-01

    The functional recovery of the immune system in HIV-infected persons receiving HAART and the role of adjuvant immune therapy are still matters of intensive investigation. We analysed the effects of HAART combined with cytokines in 22 naive asymptomatic individuals, randomized to receive HAART (n = 6), HAART plus a low dose (1000 000 U/daily) of rIL-2 (n = 8), and HAART plus rIL-2 after previous administration of granulocyte colony-stimulating factor (n = 8). After 3 months of therapy, increased CD4+ T cell counts and diminished viral loads were observed in all patients, independently of cytokine addition. A decreased expression of CD95 (Apo 1/Fas) was evident in all groups when compared with values before therapy. The percentages of peripheral blood mononuclear cells (PBMC) expressing CD95 after therapy decreased by 15%, 22% and 18% in the three treatment groups, respectively (P < 0·05). Analysis of PBMC subsets demonstrated that CD95 expression was significantly reduced on CD45RA+CD62L+ naive T cells (25·3%, 22·4%, and 18·6%, respectively; P < 0·05) in each group, after therapy. Accordingly, all patients showed a reduced rate of in vitro spontaneous apoptosis (P < 0·05). Another effect induced by HAART was a significant increase in IL-2Rα expression on total PBMC (P < 0·05), independently of cytokine addition. Altogether, our results suggest that very low dose administration of rIL-2 (1000 000 U/daily) may be not enough to induce a significant improvement in the immune system as regards HAART alone. The employment of higher doses of recombinant cytokines and/or different administration protocols in clinical trials might however contribute to ameliorate the immune reconstitution in patients undergoing HAART. PMID:10792383

  8. 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.

  9. 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 ...

  10. 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.

  11. 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

  12. 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

  13. Incorporating personalized gene sequence variants, molecular genetics knowledge, and health knowledge into an EHR prototype based on the Continuity of Care Record standard

    PubMed Central

    Jing, Xia; Kay, Stephen; Marley, Tom; Hardiker, Nicholas R.; Cimino, James J.

    2011-01-01

    Summary Objectives The current volume and complexity of genetic tests, and the molecular genetics knowledge and health knowledge related to interpretation of the results of those tests, are rapidly outstripping the ability of individual clinicians to recall, understand and convey to their patients information relevant to their care. The tailoring of molecular genetics knowledge and health knowledge in clinical settings is important both for the provision of personalized medicine and to reduce clinician information overload. In this paper we describe the incorporation, customization and demonstration of molecular genetic data (mainly sequence variants), molecular genetics knowledge and health knowledge into a standards-based electronic health record (EHR) prototype developed specifically for this study. Methods We extended the CCR (Continuity of Care Record), an existing EHR standard for representing clinical data, to include molecular genetic data. An EHR prototype was built based on the extended CCR and designed to display relevant molecular genetics knowledge and health knowledge from an existing knowledge base for cystic fibrosis (OntoKBCF). We reconstructed test records from published case reports and represented them in the CCR schema. We then used the EHR to dynamically filter molecular genetics knowledge and health knowledge from OntoKBCF using molecular genetic data and clinical data from the test cases. Results The molecular genetic data were successfully incorporated in the CCR by creating a category of laboratory results called “Molecular Genetics ” and specifying a particular class of test (“Gene Mutation Test”) in this category. Unlike other laboratory tests reported in the CCR, results of tests in this class required additional attributes (“Molecular Structure” and “Molecular Position”) to support interpretation by clinicians. These results, along with clinical data (age, sex, ethnicity, diagnostic procedures, and therapies) were used

  14. Harmonization of Neuroticism and Extraversion phenotypes across inventories and cohorts in the Genetics of Personality Consortium: an application of Item Response Theory.

    PubMed

    van den Berg, Stéphanie M; de Moor, Marleen H M; McGue, Matt; Pettersson, Erik; Terracciano, Antonio; Verweij, Karin J H; Amin, Najaf; Derringer, Jaime; Esko, Tõnu; van Grootheest, Gerard; Hansell, Narelle K; Huffman, Jennifer; Konte, Bettina; Lahti, Jari; Luciano, Michelle; Matteson, Lindsay K; Viktorin, Alexander; Wouda, Jasper; Agrawal, Arpana; Allik, Jüri; Bierut, Laura; Broms, Ulla; Campbell, Harry; Smith, George Davey; Eriksson, Johan G; Ferrucci, Luigi; Franke, Barbera; Fox, Jean-Paul; de Geus, Eco J C; Giegling, Ina; Gow, Alan J; Grucza, Richard; Hartmann, Annette M; Heath, Andrew C; Heikkilä, Kauko; Iacono, William G; Janzing, Joost; Jokela, Markus; Kiemeney, Lambertus; Lehtimäki, Terho; Madden, Pamela A F; Magnusson, Patrik K E; Northstone, Kate; Nutile, Teresa; Ouwens, Klaasjan G; Palotie, Aarno; Pattie, Alison; Pesonen, Anu-Katriina; Polasek, Ozren; Pulkkinen, Lea; Pulkki-Råback, Laura; Raitakari, Olli T; Realo, Anu; Rose, Richard J; Ruggiero, Daniela; Seppälä, Ilkka; Slutske, Wendy S; Smyth, David C; Sorice, Rossella; Starr, John M; Sutin, Angelina R; Tanaka, Toshiko; Verhagen, Josine; Vermeulen, Sita; Vuoksimaa, Eero; Widen, Elisabeth; Willemsen, Gonneke; Wright, Margaret J; Zgaga, Lina; Rujescu, Dan; Metspalu, Andres; Wilson, James F; Ciullo, Marina; Hayward, Caroline; Rudan, Igor; Deary, Ian J; Räikkönen, Katri; Arias Vasquez, Alejandro; Costa, Paul T; Keltikangas-Järvinen, Liisa; van Duijn, Cornelia M; Penninx, Brenda W J H; Krueger, Robert F; Evans, David M; Kaprio, Jaakko; Pedersen, Nancy L; Martin, Nicholas G; Boomsma, Dorret I

    2014-07-01

    Mega- or meta-analytic studies (e.g. genome-wide association studies) are increasingly used in behavior genetics. An issue in such studies is that phenotypes are often measured by different instruments across study cohorts, requiring harmonization of measures so that more powerful fixed effect meta-analyses can be employed. Within the Genetics of Personality Consortium, we demonstrate for two clinically relevant personality traits, Neuroticism and Extraversion, how Item-Response Theory (IRT) can be applied to map item data from different inventories to the same underlying constructs. Personality item data were analyzed in >160,000 individuals from 23 cohorts across Europe, USA and Australia in which Neuroticism and Extraversion were assessed by nine different personality inventories. Results showed that harmonization was very successful for most personality inventories and moderately successful for some. Neuroticism and Extraversion inventories were largely measurement invariant across cohorts, in particular when comparing cohorts from countries where the same language is spoken. The IRT-based scores for Neuroticism and Extraversion were heritable (48 and 49 %, respectively, based on a meta-analysis of six twin cohorts, total N = 29,496 and 29,501 twin pairs, respectively) with a significant part of the heritability due to non-additive genetic factors. For Extraversion, these genetic factors qualitatively differ across sexes. We showed that our IRT method can lead to a large increase in sample size and therefore statistical power. The IRT approach may be applied to any mega- or meta-analytic study in which item-based behavioral measures need to be harmonized.

  15. 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.

  16. 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 ...

  17. 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...

  18. Borderline personality traits and substance use: genetic factors underlie the association with smoking and ever use of cannabis, but not with high alcohol consumption.

    PubMed

    Distel, Marijn A; Trull, Tim J; de Moor, Marleen M H; Vink, Jacqueline M; Geels, Lot M; van Beek, Jenny H D A; Bartels, Meike; Willemsen, Gonneke; Thiery, Evert; Derom, Catherine A; Neale, Michael C; Boomsma, Dorret I

    2012-12-01

    Borderline personality disorder (BPD) and substance use disorders often co-occur. Both disorders are heritable and family studies showed that there are familial factors that increase the risk for BPD as well as substance use/abuse. This is the first study that investigates whether the association of borderline personality traits (BPT) with substance use reflects an underlying genetic vulnerability or nongenetic familial influences. To this end we analyzed data of 5,638 Dutch and Belgian twins aged between 21-50 years from 3,567 families. Significant associations between BPT and high alcohol consumption (r = .192), regular smoking (r = .299), and ever use of cannabis (r = .254) were found. Bivariate genetic analyses showed that the associations of BPT and substance use had different etiologies. For regular smoking and for ever use of cannabis, the correlation with BPT was explained by common genetic factors. Interestingly, for high alcohol consumption and BPT the association was explained by unique environmental factors that influence both traits rather than common genetic factors.

  19. 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.

  20. 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

  1. Defining genetically meaningful language and personality traits in relatives of individuals with fragile X syndrome and relatives of individuals with autism.

    PubMed

    Losh, Molly; Klusek, Jessica; Martin, Gary E; Sideris, John; Parlier, Morgan; Piven, Joseph

    2012-09-01

    Substantial phenotypic overlap exists between fragile X syndrome (FXS) and autism, suggesting that FMR1 (the gene causing FXS) poses a significant risk for autism. Cross-population comparisons of FXS and autism therefore offer a potentially valuable method for refining the range of phenotypes associated with variation in FMR1. This study adopted a broader phenotype approach, focusing on parents who are at increased genetic liability for autism or FXS. Women who were carriers of FMR1 in its premutation state were compared with mothers of individuals with autism, and controls in an attempt to determine whether subtle features of the broad autism phenotype may express at elevated rates among FMR1 premutation carriers. The principal personality and language features comprising the broad autism phenotype (i.e., rigid and aloof personality, and particular patterns of pragmatic language use) were assessed among 49 premutation carriers who were mothers of individuals with FXS, 89 mothers of individuals with autism, and 23 mothers of typically developing individuals. Relative to controls, the autism and premutation parent groups showed elevated rates of certain personality and language characteristics of the broad autism phenotype. Findings suggest partially overlapping personality and language profiles among autism and premutation parent groups, with rigid personality style and patterns of pragmatic language use emerging as features most clearly shared between groups. These results provide further evidence for the overlap of autism and FXS, and may implicate FMR1 in some of the subtle features comprising the broad autism phenotype.

  2. 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... about 137,500 individuals. Information is collected using computer assisted personal interviews (CAPI..., health care services, health insurance, health conditions, and health behaviors. For 2014,...

  3. 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

  4. Contribution of Genetic Background, Traditional Risk Factors, and HIV-Related Factors to Coronary Artery Disease Events in HIV-Positive Persons

    PubMed Central

    Rotger, Margalida; Glass, Tracy R.; Junier, Thomas; Lundgren, Jens; Neaton, James D.; Poloni, Estella S.; van 't Wout, Angélique B.; Lubomirov, Rubin; Colombo, Sara; Martinez, Raquel; Rauch, Andri; Günthard, Huldrych F.; Neuhaus, Jacqueline; Wentworth, Deborah; van Manen, Danielle; Gras, Luuk A.; Schuitemaker, Hanneke; Albini, Laura; Torti, Carlo; Jacobson, Lisa P.; Li, Xiuhong; Kingsley, Lawrence A.; Carli, Federica; Guaraldi, Giovanni; Ford, Emily S.; Sereti, Irini; Hadigan, Colleen; Martinez, Esteban; Arnedo, Mireia; Egaña-Gorroño, Lander; Gatell, Jose M.; Law, Matthew; Bendall, Courtney; Petoumenos, Kathy; Rockstroh, Jürgen; Wasmuth, Jan-Christian; Kabamba, Kabeya; Delforge, Marc; De Wit, Stephane; Berger, Florian; Mauss, Stefan; de Paz Sierra, Mariana; Losso, Marcelo; Belloso, Waldo H.; Leyes, Maria; Campins, Antoni; Mondi, Annalisa; De Luca, Andrea; Bernardino, Ignacio; Barriuso-Iglesias, Mónica; Torrecilla-Rodriguez, Ana; Gonzalez-Garcia, Juan; Arribas, José R.; Fanti, Iuri; Gel, Silvia; Puig, Jordi; Negredo, Eugenia; Gutierrez, Mar; Domingo, Pere; Fischer, Julia; Fätkenheuer, Gerd; Alonso-Villaverde, Carlos; Macken, Alan; Woo, James; McGinty, Tara; Mallon, Patrick; Mangili, Alexandra; Skinner, Sally; Wanke, Christine A.; Reiss, Peter; Weber, Rainer; Bucher, Heiner C.; Fellay, Jacques; Telenti, Amalio; Tarr, Philip E.

    2013-01-01

    Background Persons infected with human immunodeficiency virus (HIV) have increased rates of coronary artery disease (CAD). The relative contribution of genetic background, HIV-related factors, antiretroviral medications, and traditional risk factors to CAD has not been fully evaluated in the setting of HIV infection. Methods In the general population, 23 common single-nucleotide polymorphisms (SNPs) were shown to be associated with CAD through genome-wide association analysis. Using the Metabochip, we genotyped 1875 HIV-positive, white individuals enrolled in 24 HIV observational studies, including 571 participants with a first CAD event during the 9-year study period and 1304 controls matched on sex and cohort. Results A genetic risk score built from 23 CAD-associated SNPs contributed significantly to CAD (P = 2.9×10−4). In the final multivariable model, participants with an unfavorable genetic background (top genetic score quartile) had a CAD odds ratio (OR) of 1.47 (95% confidence interval [CI], 1.05–2.04). This effect was similar to hypertension (OR = 1.36; 95% CI, 1.06–1.73), hypercholesterolemia (OR = 1.51; 95% CI, 1.16–1.96), diabetes (OR = 1.66; 95% CI, 1.10–2.49), ≥1 year lopinavir exposure (OR = 1.36; 95% CI, 1.06–1.73), and current abacavir treatment (OR = 1.56; 95% CI, 1.17–2.07). The effect of the genetic risk score was additive to the effect of nongenetic CAD risk factors, and did not change after adjustment for family history of CAD. Conclusions In the setting of HIV infection, the effect of an unfavorable genetic background was similar to traditional CAD risk factors and certain adverse antiretroviral exposures. Genetic testing may provide prognostic information complementary to family history of CAD. PMID:23532479

  5. 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.

  6. Personalized ophthalmology.

    PubMed

    Porter, L F; Black, G C M

    2014-07-01

    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.

  7. 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

  8. Association analysis between 12 genetic variants of ten genes and personality traits in a young chinese Han population.

    PubMed

    Gong, Pingyuan; Zheng, Anyun; Zhang, Kejin; Lei, Xu; Li, Fengchao; Chen, Dongmei; Chi, Wanyu; Tong, Xueli; Zheng, Zijian; Gao, Xiaocai; Zhang, Fuchang

    2010-09-01

    Some genes involved in neurotransmission synthesis and transmission have been hypothesized to affect personality traits. To investigate the possible roles of these genes in personality traits of 16 Personality Factor Questionnaire, we performed a population-based study in a young Chinese Han cohort. In the study, we selected some functional variations in ten candidate genes (COMT, DBH, DRD(2), DRD(3), DAT, MAOA, GRM(1), GRIN2B, 5-TH(2A), and 5-TH(6)) encoding components in dopamine, glutamate, and 5-hydroxytryptamine pathways. The results showed the T102C in 5-TH(2A) was associated with X3 (emotional and quiet alertness) and B (reasoning) (F = 4.71 and 6.23; p = 0.009 and 0.002), Val158Met in COMT with E (dominance) (F = 7.01; p = 0.0009), while the variations in DBH, DRD(2), DRD(3), MAOA, GRM(1), GRIN2B, and 5-TH(6) were not associated with any of the personality traits. This finding suggests that T102C in 5-TH(2A) and Val158Met in COMT play roles in some human personality traits.

  9. Contribution of Genetic Background and Clinical Risk Factors to Low-Trauma Fractures in Human Immunodeficiency Virus (HIV)-Positive Persons: The Swiss HIV Cohort Study

    PubMed Central

    Junier, Thomas; Rotger, Margalida; Biver, Emmanuel; Ledergerber, Bruno; Barceló, Catalina; Bartha, Istvan; Kovari, Helen; Schmid, Patrick; Fux, Christoph; Bernasconi, Enos; Brun del Re, Claudia; Weber, Rainer; Fellay, Jacques; Tarr, Philip E.

    2016-01-01

    Background. The impact of human genetic background on low-trauma fracture (LTF) risk has not been evaluated in the context of human immunodeficiency virus (HIV) and clinical LTF risk factors. Methods. In the general population, 6 common single-nucleotide polymorphisms (SNPs) associate with LTF through genome-wide association study. Using genome-wide SNP arrays and imputation, we genotyped these SNPs in HIV-positive, white Swiss HIV Cohort Study participants. We included 103 individuals with a first, physician-validated LTF and 206 controls matched on gender, whose duration of observation and whose antiretroviral therapy start dates were similar using incidence density sampling. Analyses of nongenetic LTF risk factors were based on 158 cases and 788 controls. Results. A genetic risk score built from the 6 LTF-associated SNPs did not associate with LTF risk, in both models including and not including parental hip fracture history. The contribution of clinical LTF risk factors was limited in our dataset. Conclusions. Genetic LTF markers with a modest effect size in the general population do not improve fracture prediction in persons with HIV, in whom clinical LTF risk factors are prevalent in both cases and controls. PMID:27419173

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

    PubMed

    Meyer-Lindenberg, A; Kolachana, B; Gold, B; Olsh, A; Nicodemus, K K; Mattay, V; Dean, M; Weinberger, D R

    2009-10-01

    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.

  11. 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 National Society of Genetic Counselors ...

  12. Genetic variations in xenobiotic metabolic pathway genes, personal hair dye use, and risk of non-Hodgkin lymphoma.

    PubMed

    Zhang, Yawei; Hughes, Kathryn J; Zahm, Shelia Hoar; Zhang, Yaqun; Holford, Theodore R; Dai, Li; Bai, Yana; Han, Xuesong; Qin, Qin; Lan, Qing; Rothman, Nathaniel; Zhu, Yong; Leaderer, Brian; Zheng, Tongzhang

    2009-11-15

    From 1996 to 2000, the authors conducted a population-based case-control study among Connecticut women to test the hypothesis that genetic variation in xenobiotic metabolic pathway genes modifies the relation between hair dye use and risk of non-Hodgkin lymphoma. No effect modifications were found for women who started using hair dyes in 1980 or afterward. For women who started using hair dye before 1980 as compared with never users, a statistically significantly increased risk of non-Hodgkin lymphoma was found for carriers of CYP2C9 Ex3-52C>T TT/CT genotypes (odds ratio (OR) = 2.9, 95% confidence interval (CI): 1.4, 6.1), CYP2E1 -332T>A AT/AA genotypes (OR = 2.0, 95% CI: 1.2, 3.4), a homozygous or heterozygous 3-base-pair deletion in intron 6 of GSTM3 (OR = 2.3, 95% CI: 1.3, 4.1), GSTP1 Ex5-24A>G AA genotypes (OR = 1.8, 95% CI: 1.1, 2.9), or NAT2 genotypes conferring intermediate/rapid acetylator status (OR = 1.6, 95% CI: 1.0, 2.7). The observed associations were mainly seen for follicular lymphoma. In contrast, no significantly increased risk was observed for starting hair dye use before 1980 (relative to never use) among women who were homozygous wild-type for the CYP2C9, CYP2E1, or GSTM3 polymorphisms, women carrying 1 or 2 copies of the variant GSTP1 allele, or women who were slow NAT2 acetylators. A possible role of genetic variation in xenobiotic metabolism in the carcinogenicity of hair dye use needs to be confirmed in larger studies.

  13. Genetic Variations in Xenobiotic Metabolic Pathway Genes, Personal Hair Dye Use, and Risk of Non-Hodgkin Lymphoma

    PubMed Central

    Zhang, Yawei; Hughes, Kathryn J.; Zahm, Shelia Hoar; Holford, Theodore R.; Dai, Li; Bai, Yana; Han, Xuesong; Qin, Qin; Lan, Qing; Rothman, Nathaniel; Zhu, Yong; Leaderer, Brian; Zheng, Tongzhang

    2009-01-01

    From 1996 to 2000, the authors conducted a population-based case-control study among Connecticut women to test the hypothesis that genetic variation in xenobiotic metabolic pathway genes modifies the relation between hair dye use and risk of non-Hodgkin lymphoma. No effect modifications were found for women who started using hair dyes in 1980 or afterward. For women who started using hair dye before 1980 as compared with never users, a statistically significantly increased risk of non-Hodgkin lymphoma was found for carriers of CYP2C9 Ex3-52C>T TT/CT genotypes (odds ratio (OR) = 2.9, 95% confidence interval (CI): 1.4, 6.1), CYP2E1 -332T>A AT/AA genotypes (OR = 2.0, 95% CI: 1.2, 3.4), a homozygous or heterozygous 3-base-pair deletion in intron 6 of GSTM3 (OR = 2.3, 95% CI: 1.3, 4.1), GSTP1 Ex5-24A>G AA genotypes (OR = 1.8, 95% CI: 1.1, 2.9), or NAT2 genotypes conferring intermediate/rapid acetylator status (OR = 1.6, 95% CI: 1.0, 2.7). The observed associations were mainly seen for follicular lymphoma. In contrast, no significantly increased risk was observed for starting hair dye use before 1980 (relative to never use) among women who were homozygous wild-type for the CYP2C9, CYP2E1, or GSTM3 polymorphisms, women carrying 1 or 2 copies of the variant GSTP1 allele, or women who were slow NAT2 acetylators. A possible role of genetic variation in xenobiotic metabolism in the carcinogenicity of hair dye use needs to be confirmed in larger studies. PMID:19822571

  14. Balancing personalized medicine and personalized care.

    PubMed

    Cornetta, Kenneth; Brown, Candy Gunther

    2013-03-01

    The current description of personalized medicine by the National Institutes of Health is "the science of individualized prevention and therapy." Although physicians are beginning to see the promise of genetic medicine coming to fruition, the rapid pace of sequencing technology, informatics, and computer science predict a 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 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 on 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. Because 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.

  15. A Randomized Placebo-controlled Trial to Test a Genetically-informed Biomarker ForPersonalizing Treatment for Tobacco Dependence

    PubMed Central

    Lerman, Caryn; Schnoll, Robert A.; Hawk, Larry W.; Cinciripini, Paul; George, Tony P.; Wileyto, E. Paul; Swan, Gary E.; Benowitz, Neal I.; Heitjan, Daniel F.; Tyndale, Rachel F.

    2015-01-01

    Summary Background There is substantial variability in therapeutic response and adverse effects with pharmacotherapies for tobacco dependence. Biomarkers to optimize treatment choice for individual smokers may improve treatment outcomes.Wetested whether a genetically-informed biomarker of nicotine clearance, the nicotine metabolite ratio (NMR; 3’hydroxycotinine/cotinine), predicts response to nicotine patch vs. varenicline for smoking cessation. Methods AnNMR-stratified multicenter, randomized, placebo-controlled clinical trial was conducted from November 2010-September 2013 at 4 sites. Treatment-seeking smokers (1246: 662 slow metabolizers; 584 normal metabolizers) were randomized to 11-weeks of nicotine patch (active patch + placebo pill), varenicline (active pill + placebo patch), or placebo (placebo pill + patch), plus behavioral counseling; an intent-to-treat analysis was conducted. Participants were followed for 12-months following the target quit date.The primary endpoint was biochemically verified 7-day point prevalence abstinence at the end of treatment (EOT) to estimate the pharmacologic effect of treatment by NMR. Secondary outcomes were side-effects, withdrawal symptoms, and 6- and 12-month abstinence rates. ClinicalTrials.govregistration: NCT01314001 Findings In the longitudinal model including all time points, the NMR-by-treatment interaction was significant (ratio of odds ratios (ORR)=1·96; CI=(1·11, 3·46); p=0·02). The results indicate that varenicline was more efficacious than nicotine patch for normal metabolizers, whilethe efficacy was equivalent for slow metabolizers. In cross-sectional analyses, the interaction was significant at EOT (ORR)=1·89; CI=(1·02, 3·45); p=0·04) andat 6-months (ORR=2·07; CI=(1·01, 4·22); p=0·05), but not at 12-months (p=0·14). An NMR-by-treatment interaction showed that slow (vs. normal) metabolizers reported greater overallside-effects severity with vareniclinevs. placebo (β−1·06; CI=(−2·08, −0

  16. Posterior Cingulate Glucose Metabolism, Hippocampal Glucose Metabolism, and Hippocampal Volume in Cognitively Normal, Late-Middle-Aged Persons at 3 Levels of Genetic Risk for Alzheimer Disease

    PubMed Central

    Protas, Hillary D.; Chen, Kewei; Langbaum, Jessica B. S.; Fleisher, Adam S.; Alexander, Gene E.; Lee, Wendy; Bandy, Daniel; de Leon, Mony J.; Mosconi, Lisa; Buckley, Shannon; Truran-Sacrey, Diana; Schuff, Norbert; Weiner, Michael W.; Caselli, Richard J.; Reiman, Eric M.

    2013-01-01

    metabolism in cognitively normal persons at increased genetic risk for Alzheimer disease. PMID:23599929

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

    PubMed Central

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

    2013-01-01

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

  18. 76 FR 53135 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-08-25

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction... persons to assess prevalence of and trends in: (1) Risk behaviors for HIV infection, (2) HIV testing behaviors, and (3) exposure to, use of, and impact of HIV prevention services. The results of this...

  19. 76 FR 12121 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-03-04

    ... information from persons at risk for HIV infection. These data have substantial impact on prevention program... 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. Personalized Medicine and Pharmacogenomics

    MedlinePlus

    Healthy Lifestyle Consumer health Pharmacogenomics holds the promise that drugs might one day be tailored to your genetic ... 05, 2015 Original article: http://www.mayoclinic.org/healthy-lifestyle/consumer-health/in-depth/personalized-medicine/art-20044300 . ...

  1. A reduced-toxicity regimen is associated with durable engraftment and clinical cure of nonmalignant genetic diseases among children undergoing blood and marrow transplantation with an HLA-matched related donor.

    PubMed

    Mahadeo, Kris Michael; Weinberg, Kenneth I; Abdel-Azim, Hisham; Miklos, David B; Killen, Renna; Kohn, Donald; Crooks, Gay M; Shah, Ami J; Kharbanda, Sandhya; Agarwal, Rajni; Kapoor, Neena

    2015-03-01

    Blood and marrow transplantation (BMT) is a standard curative therapy for patients with nonmalignant genetic diseases. Myeloablative conditioning has been associated with significant regimen-related toxicity (RRT), whereas reduced-intensity conditioning regimens have been associated with graft failure. In this prospective pilot trial conducted at 2 centers between 2006 and 2013, we report the outcome of 22 patients with nonmalignant genetic diseases who were conditioned with a novel reduced-toxicity regimen: i.v. busulfan (16 mg/kg), alemtuzumab (52 mg/m(2)), fludarabine (140 mg/m(2)), and cyclophosphamide (105 mg/kg). The median age of the study population was 3.5 years (range, 5 months to 26 years). No cases of sinusoidal obstruction syndrome, severe or chronic graft-versus-host disease (GVHD), or primary graft failure were reported. Median time to neutrophil engraftment (>500 cells/μL) and platelet engraftment (>20K cells/μL) were 19 (range, 12 to 50) and 23.5 (range, 14 to 134) days, respectively. The median length of follow-up was 3 years (range, .2 to 6.3). The overall survival rates were 95% at 100 days (95% confidence interval, .72 to .99) and 90% at 6 years (95% confidence interval, .68 to .98). RRT and chronic GVHD are significant barriers to BMT for patients with nonmalignant genetic diseases. This alemtuzumab-based reduced-toxicity regimen appears to be promising with durable engraftment, effective cure of clinical disease, low rates of RRT, and no observed chronic GVHD.

  2. Recent advances in forensic genetics.

    PubMed

    Walsh, Simon J

    2004-01-01

    Like many applications of molecular diagnostics, the field of forensic biology is undergoing a phase of expansion and diversification. The growth of forensic DNA databases and adoption of sophisticated analytical methods have catalyzed this increasing role. The range of molecular markers exploited in the fight against crime is beginning to increase too, and genes implying personal or physical characteristics are emerging in the research literature. However, the operational context of forensic biology is unlike many other fields of science. Harmonizing technological breakthroughs with the requirements of law enforcement agencies and the complexities of the legal system is an added challenge and one which evokes ongoing debate. This review examines the current status of this dynamic and important application of modern genetics.

  3. 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

  4. 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.

  5. Person Reliability

    ERIC Educational Resources Information Center

    Lumsden, James

    1977-01-01

    Person changes can be of three kinds: developmental trends, swells, and tremors. Person unreliability in the tremor sense (momentary fluctuations) can be estimated from person characteristic curves. Average person reliability for groups can be compared from item characteristic curves. (Author)

  6. 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.

  7. 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

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

    PubMed

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

    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.

  9. Patient decision-making for clinical genetics.

    PubMed

    Anderson, Gwen

    2007-03-01

    Medicine is incorporating genetic services into all avenues of health-care, ranging from the rarest to the most common diseases. Cognitive theories of decision-making still dominate professionals' understanding of patient decision-making about how to use genetic information and whether to have testing. I discovered a conceptual model of decision-making while carrying out a phenomenological-hermeneutic descriptive study of a convenience sample of 12 couples who were interviewed while deciding whether to undergo prenatal genetic testing. Thirty-two interviews were conducted with 12 men and 12 women separately. Interviews were transcribed verbatim and all data were analyzed using three levels of coding that were sorted into 30 categories and then abstracted into three emergent meta-themes that described men's and women's attempts to make sense and find meaning in how to best use prenatal genetic technology. Their descriptions of how they thought about, communicated, and coped with their decision were so detailed it was possible to discern nine different types of thinking they engaged in while deciding to accept or decline testing. They believed that decision-making is a process of working through your own personal style of thinking. This might include only one or any combination of the following types of thinking: analytical, ethical, moral, reflective, practical, hypothetical, judgmental, scary, and second sight, as described in detail by these 12 couples.

  10. DSDs: genetics, underlying pathologies and psychosexual differentiation

    PubMed Central

    Arboleda, Valerie A.; Sandberg, David E.; Vilain, Eric

    2015-01-01

    Mammalian sex determination is the unique process whereby a single organ, the bipotential gonad, undergoes a developmental switch that promotes its differentiation into either a testis or an ovary. Disruptions of this complex genetic process during human development can manifest as disorders of sex development (DSDs). Sex development can be divided into two distinct processes: sex determination, in which the bipotential gonads form either testes or ovaries, and sex differentiation, in which the fully formed testes or ovaries secrete local and hormonal factors to drive differentiation of internal and external genitals, as well as extragonadal tissues such as the brain. DSDs can arise from a number of genetic lesions, which manifest as a spectrum of gonadal (gonadal dysgenesis to ovotestis) and genital (mild hypospadias or clitoromegaly to ambiguous genitalia) phenotypes. The physical attributes and medical implications associated with DSDs confront families of affected newborns with decisions, such as gender of rearing or genital surgery, and additional concerns, such as uncertainty over the child’s psychosexual development and personal wishes later in life. In this Review, we discuss the underlying genetics of human sex determination and focus on emerging data, genetic classification of DSDs and other considerations that surround gender development and identity in individuals with DSDs. PMID:25091731

  11. Metamorphosis and animal personality: a neglected opportunity.

    PubMed

    Wilson, Alexander D M; Krause, Jens

    2012-10-01

    Developmental perspectives represent an underutilized area of animal personality research, in spite of their obvious importance in biology. Animals that undergo metamorphosis are particularly neglected and represent a unique in situ experimental opportunity to study how personality differences are associated with physiological, morphological, or ecological traits over development.

  12. 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.

  13. 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

  14. Lifestyle Advice Combined with Personalized Estimates of Genetic or Phenotypic Risk of Type 2 Diabetes, and Objectively Measured Physical Activity: A Randomized Controlled Trial

    PubMed Central

    van Sluijs, Esther M. F.; Marteau, Theresa M.; Sutton, Stephen

    2016-01-01

    Background Information about genetic and phenotypic risk of type 2 diabetes is now widely available and is being incorporated into disease prevention programs. Whether such information motivates behavior change or has adverse effects is uncertain. We examined the effect of communicating an estimate of genetic or phenotypic risk of type 2 diabetes in a parallel group, open, randomized controlled trial. Methods and Findings We recruited 569 healthy middle-aged adults from the Fenland Study, an ongoing population-based, observational study in the east of England (Cambridgeshire, UK). We used a computer-generated random list to assign participants in blocks of six to receive either standard lifestyle advice alone (control group, n = 190) or in combination with a genetic (n = 189) or a phenotypic (n = 190) risk estimate for type 2 diabetes (intervention groups). After 8 wk, we measured the primary outcome, objectively measured physical activity (kJ/kg/day), and also measured several secondary outcomes (including self-reported diet, self-reported weight, worry, anxiety, and perceived risk). The study was powered to detect a between-group difference of 4.1 kJ/kg/d at follow-up. 557 (98%) participants completed the trial. There were no significant intervention effects on physical activity (difference in adjusted mean change from baseline: genetic risk group versus control group 0.85 kJ/kg/d (95% CI −2.07 to 3.77, p = 0.57); phenotypic risk group versus control group 1.32 (95% CI −1.61 to 4.25, p = 0.38); and genetic risk group versus phenotypic risk group −0.47 (95% CI −3.40 to 2.46, p = 0.75). No significant differences in self-reported diet, self-reported weight, worry, and anxiety were observed between trial groups. Estimates of perceived risk were significantly more accurate among those who received risk information than among those who did not. Key limitations include the recruitment of a sample that may not be representative of the UK population, use of self

  15. [Genetic risk and discrimination].

    PubMed

    Vidal Gallardo, Mercedes

    2010-01-01

    The continuous advances in our society in the last decades have allowed us to get to know the personal genetic data. Although this discovery has important benefits, it also causes a great paradox, since the genetic information can be an element of social stigma, and its inappropriate use can damage the fundamental rights. It is obvious that there are cases in which the genetic risk, that is, the predisposition of a person to suffer some illnesses, can be a discriminatory element, especially in the contractual field.

  16. Personality disorders

    MedlinePlus

    ... this page: //medlineplus.gov/ency/article/000939.htm Personality disorders To use the sharing features on this page, please enable JavaScript. Personality disorders are a group of mental conditions in ...

  17. 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 ...

  18. Evolutionary genomics of animal personality.

    PubMed

    van Oers, Kees; Mueller, Jakob C

    2010-12-27

    Research on animal personality can be approached from both a phenotypic and a genetic perspective. While using a phenotypic approach one can measure present selection on personality traits and their combinations. However, this approach cannot reconstruct the historical trajectory that was taken by evolution. Therefore, it is essential for our understanding of the causes and consequences of personality diversity to link phenotypic variation in personality traits with polymorphisms in genomic regions that code for this trait variation. Identifying genes or genome regions that underlie personality traits will open exciting possibilities to study natural selection at the molecular level, gene-gene and gene-environment interactions, pleiotropic effects and how gene expression shapes personality phenotypes. In this paper, we will discuss how genome information revealed by already established approaches and some more recent techniques such as high-throughput sequencing of genomic regions in a large number of individuals can be used to infer micro-evolutionary processes, historical selection and finally the maintenance of personality trait variation. We will do this by reviewing recent advances in molecular genetics of animal personality, but will also use advanced human personality studies as case studies of how molecular information may be used in animal personality research in the near future.

  19. 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 ( ...

  20. Genetically reduced FAAH activity may be a risk for the development of anxiety and depression in persons with repetitive childhood trauma.

    PubMed

    Lazary, Judit; Eszlari, Nora; Juhasz, Gabriella; Bagdy, Gyorgy

    2016-06-01

    Fatty acid amide hydrolase (FAAH) inhibitors are addressed for promising anxiolytics, but human studies on genetically reduced FAAH activity, stress and affective phenotypes are scarce. We investigated the effect of a functional polymorphism of FAAH (FAAH C385A or rs324420; low FAAH activity and high anandamide concentration are associated with the A allele) together with childhood adversity on the anxious and depressive phenotypes in 858 subjects from the general population. Phenotypes were measured by the Zung Self-Rating Depression Scale (ZSDS), the depression and anxiety subscales of the Brief Symptom Inventory (BSI-DEP, BSI-ANX) and the State-Trait Anxiety scales (STAI-S, STAI-T). Childhood Adversity Questionnaire (CHA) was used to assess early life traumas. Frequency of the A allele was greater among subjects with high ZSDS scores compared to the CC genotype. Furthermore, FAAH C385A and the CHA have shown a robust gene-environment interaction, namely, significantly higher anxiety and depression scores were exhibited by individuals carrying the A allele if they had high CHA scores compared to CC carriers. These data provided preliminary evidence that genetically reduced FAAH activity and repetitive stress in the childhood are associated with increased vulnerability for anxiety and depression in later life. Our results together with earlier experimental data suggest that permanently elevated anandamide level together with early life stress may cause a lifelong damage on stress response probably via the downregulation of CB1R during the neurodevelopment in the brain. It may also point to pharmacogenomic consequences, namely ineffectiveness or adverse effects of FAAH inhibitors in this subpopulation.

  1. Genetics in Relation to Biology.

    ERIC Educational Resources Information Center

    Stewart, J. Bird

    1987-01-01

    Claims that most instruction dealing with genetics is limited to sex education and personal hygiene. Suggests that the biology curriculum should begin to deal with other issues related to genetics, including genetic normality, prenatal diagnoses, race, and intelligence. Predicts these topics will begin to appear in British examination programs.…

  2. 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

  3. Genetic characterization drives personalized therapy for early-stage non-small-cell lung cancer (NSCLC) patients and survivors with metachronous second primary tumor (MST)

    PubMed Central

    Ding, Xingchen; Wang, Linlin; Liu, Xijun; Sun, Xindong; Yu, Jinming; Meng, Xue

    2017-01-01

    Abstract Rationale: The pathogenesis and progression of lung cancer is a complicated process in which many genes take part. But molecular gene testing is typically only performed in advanced-stage non-squamous non-small-cell lung cancer (NSCLC). The value of tyrosine kinase inhibitors (TKI) administration is not widely recognized with respect to early-stage NSCLC. Patient concerns: Here, we present a case of a man, heavy smoker who initially presented with stage IA lung adenocarcinoma (LADC). Three years after a lung lobectomy, he was diagnosed with advanced lung squamous cell carcinoma (SCC), according to laboratory, imaging, and pathological examinations. Diagnoses The case initially had an early-stage LADC with an L858R epidermal growth factor receptor (EGFR) mutation. A subsequent advanced SCC bearing EGFR L858R/T790M mutations occurred 3 years after surgery. Interventions: The comprehensive therapy we utilized, including surgical resection for the early-stage lesion and GP chemotherapy and local radiotherapy as the first line therapy along with gefitinib maintenance treatment for the advanced metachronous second primary tumors (MST). Outcomes: The synthetical therapy, have resulted in our patient with remaining alive and progression free for 4.5 years. Lessons: This case suggests that changes in molecular pathology should be monitored closely throughout cancer progression to guide personalized therapy and improve prognosis. We further review administration of TKI to early-stage NSCLC and to the metachronous second primary tumors (MST) in survivors. PMID:28272214

  4. Personalized nutrition and obesity.

    PubMed

    Qi, Lu

    2014-08-01

    The past few decades have witnessed a rapid rise in nutrition-related disorders such as obesity in the United States and over the world. Traditional nutrition research has associated various foods and nutrients with obesity. Recent advances in genomics have led to identification of the genetic variants determining body weight and related dietary factors such as intakes of energy and macronutrients. In addition, compelling evidence has lent support to interactions between genetic variations and dietary factors in relation to obesity and weight change. Moreover, recently emerging data from other 'omics' studies such as epigenomics and metabolomics suggest that more complex interplays between the global features of human body and dietary factors may exist at multiple tiers in affecting individuals' susceptibility to obesity; and a concept of 'personalized nutrition' has been proposed to integrate this novel knowledge with traditional nutrition research, with the hope ultimately to endorse person-centric diet intervention to mitigate obesity and related disorders.

  5. 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.

  6. Personalized medicine: hope or hype?

    PubMed Central

    Salari, Keyan; Watkins, Hugh; Ashley, Euan A.

    2012-01-01

    Medicine has always been personalized. For years, physicians have incorporated environmental, behavioural, and genetic factors that affect disease and drug response into patient management decisions. However, until recently, the ‘genetic’ data took the form of family history and self-reported race/ethnicity. As genome sequencing declines in cost, the availability of specific genomic information will no longer be limiting. Rather, our ability to parse these data and our decision whether to use it will become primary. As our understanding of genetic association with drug responses and diseases continues to improve, clinically useful genetic tests may emerge to improve upon our previous methods of assessing genetic risks. Indeed, genetic tests for monogenic disorders have already proven useful. Such changes may usher in a new era of personalized medicine. In this review, we will discuss the utility and limitations of personal genomic data in three domains: pharmacogenomics, assessment of genetic predispositions for common diseases, and identification of rare disease-causing genetic variants. PMID:22659199

  7. Genetic Mapping

    MedlinePlus

    ... Fact Sheets Fact Sheets En Español: Mapeo Genético Genetic Mapping What is genetic mapping? How do researchers ... genetic map? What are genetic markers? What is genetic mapping? Among the main goals of the Human ...

  8. Genetic Counseling

    MedlinePlus

    ... Home > Pregnancy > Before or between pregnancies > Genetic counseling Genetic counseling E-mail to a friend Please fill ... a genetic counselor in your area. What is genetic counseling? Genetic counseling helps you understand how genes , ...

  9. Genetic Counseling for Congenital Heart Defects

    MedlinePlus

    ... Peripheral Artery Disease Venous Thromboembolism Aortic Aneurysm 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 ...

  10. 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…

  11. 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…

  12. Genetic screening for deafness.

    PubMed

    Smith, Richard J H; Hone, Stephen

    2003-04-01

    Genetic testing for deafness has become a reality. It has changed the paradigm for evaluating deaf and hard-of-hearing persons and will be used by physicians for diagnostic purposes and as a basis for treatment and management options. Although mutation screening is currently available for only a limited number of genes, in these specific instances, diagnosis, carrier detection, and reproductive risk counseling can be provided. In the coming years there will be an expansion of the role of genetic testing and counseling will not be limited to reproductive issues. Treatment and management decisions will be made based on specific genetic diagnoses. Although genetic testing may be a confusing service for the practicing otolaryngologist, it is an important part of medical care. New discoveries and technologies will expand and increase the complexity of genetic testing options and it will become the responsibility of otolaryngologists to familiarize themselves with current discoveries and accepted protocols for genetic testing.

  13. [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.

  14. 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…

  15. Undergoing enucleation of the eye. Part 2: postoperative care.

    PubMed

    Cooper, John

    In this, the second of a 2-part article, the author discusses the postoperative care of patients who undergo enucleation of the eye. Part one explored aspects of preoperative care of enucleated patients. In the immediate period following surgery, patients require support and advice regarding pain, nausea and simple care of the eye socket. Apart from the intrinsic postoperative demands of the surgery, there are also the difficulties and challenges associated with providing psychological support and helping patients cope with the loss of an eye. Ultimately, the patient can overcome any initial problems and eventually be able to wear a custom-made prosthesis, which will hopefully allow the patient to move on with their lives. As in the first part, the author will use both referenced material and anecdotal references (upon personal reflection) to analyze the ongoing postoperative care and support of these patients.

  16. 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)

  17. [Alcohol dependence, temper and personality].

    PubMed

    Lejoyeux, Michel

    2004-12-01

    This review focuses on classical and recent research work in the field of alcohol dependence. Data from psychopathological studies trying to determine a "pre-addictive" personality are exposed. More recent studies assess personality disorders and dimensions of temperament associated to alcohol dependence. Sensation seeking, antisocial personality and novelty seeking appear as the main psychological parameters involved in dependence. Sensation seeking is a dimension of personality often associated to behavioral dependence. Sensation seeking is assessed with a five-component scale including general factor, thrill and adventure seeking, experience-seeking, disinhibition, and boredom susceptibility. Patients presenting alcohol dependence have a higher level of sensation seeking. Neurophysiological and genetic studies try to correlate these personality features to biological parameters. Preliminary results of these works are presented and discussed.

  18. 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.

  19. New Genetics

    MedlinePlus

    ... Home > Science Education > The New Genetics The New Genetics Living Laboratories Classroom Poster Order a Free Copy ... Piece to a Century-Old Evolutionary Puzzle Computing Genetics Model Organisms RNA Interference The New Genetics is ...

  20. Genetic Disorders

    MedlinePlus

    ... Management Education & Events Advocacy For Patients About ACOG Genetic Disorders Home For Patients Search FAQs Genetic Disorders ... Spanish Genetic Disorders FAQ094, April 2014 PDF Format Genetic Disorders Pregnancy What are genes? What are chromosomes? ...

  1. 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.

  2. Antisocial personality disorder

    MedlinePlus

    Sociopathic personality; Sociopathy; Personality disorder - antisocial ... are often seen in the development of antisocial personality. Some doctors believe that psychopathic personality (psychopathy) is ...

  3. Motherhood and genetic screening: a personal perspective.

    PubMed

    Place, Fiona

    2008-10-01

    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 of 'successful' birth outcomes showcasing the importance of their work. Unsurprisingly this has lead to women being expected to take control - from timing a pregnancy to choosing one particular pregnancy over another - they are to improve their lives and the health of their offspring. But are these developments all 'good' news? Is it safe to assume the push to achieve better birth outcomes and the concomitant use of prenatal testing automatically improves lives? Could it be the issues raised are causing some lives to become harder? How meaningful, for example, are tests such as amniocentesis and CVS? As the mother of a child with Down syndrome I believe it is important for myself and other women in similar situations to share their lived experience. Perhaps we can illuminate some of the more complex and troubling issues these technological advances have the capacity to create - not only for ourselves - but for all women.

  4. 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…

  5. 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…

  6. Prenatal Genetic Counselling

    PubMed Central

    McGillivray, Barbara C.

    1986-01-01

    Genetic concerns and indications for prenatal diagnosis are first recognized by the family physician. Review of personal, pregnancy and family history may indicate concerns beyond that of advanced maternal age. Amniocentesis is still the most frequently used modality for prenatal diagnosis, but detailed ultrasound is valuable for structural abnormalities, and chorionic villus sampling is now being tested as an alternative to amniocentesis. PMID:21267316

  7. Clinical practice on the horizon: personalized medicine.

    PubMed

    Chadwell, Katherine

    2013-01-01

    With the advent of the human genome project, we have never known so much about the uniqueness of individuals. Personalized medicine is poised to use this genetic and genomic information along with the impact of environment and clinical presentation to provide healthcare from an individual perspective. This offers the opportunity to improve our ability to diagnose and predict disease, provide earlier intervention, identify new treatment regimens, and address the safety and efficacy of drug use. The impact of personalized medicine to our current model of healthcare delivery is tremendous, and although strides have been made, there are still challenges and barriers to overcome before personalized medicine can be fully implemented. Advanced practice nurses may not be fully aware of the personalized medicine initiative or may not be well versed on genetic and genomic content, which is a key concept of personalized medicine. The role of advanced practice nurses is an integral part of the healthcare system, and as such, they are poised to be key providers and contributors to personalized medicine. The personalized medicine initiative is discussed along with examples of genetic and genomic information that lend to our understanding, diagnosis, and treatment of disease, as well as the role and responsibilities of advanced practice nurses. Resources for personalized medicine and genetic and genomic content are provided.

  8. [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.

  9. Personalized medicine in cardiovascular diseases.

    PubMed

    Lee, Moo-Sik; Flammer, Andreas J; Lerman, Lilach O; Lerman, Amir

    2012-09-01

    Personalized medicine is a novel medical model with all decisions and practices being tailored to individual patients in whatever ways possible. In the era of genomics, personalized medicine combines the genetic information for additional benefit in preventive and therapeutic strategies. Personalized medicine may allow the physician to provide a better therapy for patients in terms of efficiency, safety and treatment length to reduce the associated costs. There was a remarkable growth in scientific publication on personalized medicine within the past few years in the cardiovascular field. However, so far, only very few cardiologists in the USA are incorporating personalized medicine into clinical treatment. We review the concepts, strengths, limitations and challenges of personalized medicine with a particular focus on cardiovascular diseases (CVDs). There are many challenges from both scientific and policy perspectives to personalized medicine, which can overcome them by comprehensive concept and understanding, clinical application, and evidence based practices. Individualized medicine serves a pivotal role in the evolution of national and global healthcare reform, especially, in the CVDs fields. Ultimately, personalized medicine will affect the entire landscape of health care system in the near future.

  10. Personal Finance.

    ERIC Educational Resources Information Center

    Marine Corps Inst., Washington, DC.

    Developed as part of the Marine Corps Institute (MCI) correspondence training program, this course on personal finance is designed to provide all Marines with the ability to manage their financial affairs successfully. Introductory materials include specific information for MCI students, a course introduction, and a study guide (guidelines to…

  11. 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.

  12. Attitudes toward direct-to-consumer advertisements and online genetic testing among high-risk women participating in a hereditary cancer clinic.

    PubMed

    Perez, Giselle K; Cruess, Dean G; Cruess, Stacy; Brewer, Molly; Stroop, Jennifer; Schwartz, Robin; Greenstein, Robert

    2011-07-01

    Genetic testing for the breast cancer genes 1/2 (BRCA 1/2) has helped women determine their risk of developing breast and ovarian cancer. As interest in genetic testing has grown, companies have created strategies to disseminate information about testing, including direct-to-consumer advertising (DTCA) and online genetic testing. This study examined attitudes toward DTCA and online testing for BRCA among 84 women at a high-risk clinic as well as additional factors that may be associated with these attitudes, such as personal and familial cancer history, cancer worry and risk perception, and history with genetic testing/counseling. Results showed that the majority of the women held favorable attitudes toward DTCA for BRCA testing but did not support online testing. Factors such as familial ovarian cancer, cancer worry, and satisfaction with genetic counseling/testing were associated with positive attitudes toward DTCA, whereas personal breast cancer history was related to negative attitudes. The findings suggest that women may view DTCA as informational but rely on physicians for help in their decision to undergo testing, and also suggest that cancer history may affect women's acceptance of DTCA and genetic testing.

  13. 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.

  14. 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.

  15. 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

  16. Genetics: advances in genetic testing for deafness

    PubMed Central

    Shearer, A. Eliot; Smith, Richard J.H.

    2013-01-01

    Purpose of review To provide an update on recently discovered human deafness genes and to describe advances in comprehensive genetic testing platforms for deafness, both of which have been enabled by new massively parallel sequencing technologies. Recent findings Over the review period, three syndromic and six nonsyndromic deafness genes have been discovered, bringing the total number of nonsyndromic deafness genes to 64. Four studies have shown the utility of massively parallel sequencing for comprehensive genetic testing for deafness. Three of these platforms have been released on a clinical or commercial basis. Summary Deafness is the most common sensory deficit in humans. Genetic diagnosis has traditionally been difficult due to extreme genetic heterogeneity and a lack of phenotypic variability. For these reasons, comprehensive genetic screening platforms have been developed with the use of massively parallel sequencing. These technologies are also accelerating the pace of gene discovery for deafness. Because genetic diagnosis is the basis for molecular therapies, these advances lay the foundation for the clinical care of deaf and hard-of-hearing persons in the future. PMID:23042251

  17. Personalized nutrition and obesity

    PubMed Central

    Qi, Lu

    2017-01-01

    The past few decades have witnessed a rapid rise in nutrition-related disorders such as obesity in the United States and over the world. Traditional nutrition research has associated various foods and nutrients with obesity. Recent advances in genomics have led to identification of the genetic variants determining body weight and related dietary factors such as intakes of energy and macronutrients. In addition, compelling evidence has lent support to interactions between genetic variations and dietary factors in relation to obesity and weight change. Moreover, recently emerging data from other ‘omics’ studies such as epigenomics and metabolomics suggest that more complex interplays between the global features of human body and dietary factors may exist at multiple tiers in affecting individuals’ susceptibility to obesity; and a concept of ‘personalized nutrition’ has been proposed to integrate this novel knowledge with traditional nutrition research, with the hope ultimately to endorse person-centric diet intervention to mitigate obesity and related disorders. PMID:24716734

  18. 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.

  19. 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.

  20. 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.

  1. 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

  2. Gaps in Incorporating Germline Genetic Testing Into Treatment Decision-Making for Early-Stage Breast Cancer.

    PubMed

    Kurian, Allison W; Li, Yun; Hamilton, Ann S; Ward, Kevin C; Hawley, Sarah T; Morrow, Monica; McLeod, M Chandler; Jagsi, Reshma; Katz, Steven J

    2017-04-12

    Purpose Genetic testing for breast cancer risk is evolving rapidly, with growing use of multiple-gene panels that can yield uncertain results. However, little is known about the context of such testing or its impact on treatment. Methods A population-based sample of patients with breast cancer diagnosed in 2014 to 2015 and identified by two SEER registries (Georgia and Los Angeles) were surveyed about genetic testing experiences (N = 3,672; response rate, 68%). Responses were merged with SEER data. A patient subgroup at higher pretest risk of pathogenic mutation carriage was defined according to genetic testing guidelines. Patients' attending surgeons were surveyed about genetic testing and results management. We examined patterns and correlates of genetic counseling and testing and the impact of results on bilateral mastectomy (BLM) use. Results Six hundred sixty-six patients reported genetic testing. Although two thirds of patients were tested before surgical treatment, patients without private insurance more often experienced delays. Approximately half of patients (57% at higher pretest risk, 42% at average risk) discussed results with a genetic counselor. Patients with pathogenic mutations in BRCA1/2 or another gene had the highest rates of BLM (higher risk, 80%; average risk, 85%); however, BLM was also common among patients with genetic variants of uncertain significance (VUS; higher risk, 43%; average risk, 51%). Surgeons' confidence in discussing testing increased with volume of patients with breast cancer, but many surgeons (higher volume, 24%; lower volume, 50%) managed patients with BRCA1/2 VUS the same as patients with BRCA1/2 pathogenic mutations. Conclusion Many patients with breast cancer are tested without ever seeing a genetic counselor. Half of average-risk patients with VUS undergo BLM, suggesting a limited understanding of results that some surgeons share. These findings emphasize the need to address challenges in personalized communication

  3. New Strategies in Personalized Medicine for Solid Tumors: Molecular Markers and Clinical Trial Designs

    PubMed Central

    Jürgensmeier, Juliane M.; Eder, Joseph P.; Herbst, Roy S.

    2017-01-01

    The delineation of signaling pathways to understand tumor biology combined with the rapid development of technologies that allow broad molecular profiling and data analysis, has led to a new era of personalized medicine in oncology. Many academic institutions now routinely profile patients and discuss them in personalized medicine tumor boards before making treatment recommendations. Clinical trials initiated by pharmaceutical companies often require specific markers for enrollment or at least explore multiple options for future markers. In addition to the still small number of targeted agents that are approved for the therapy of patients with histological and molecularly defined tumors, there is a broad range of novel targeted agents in development that are undergoing clinical studies with companion profiling to determine the best responding patient population. While the present focus of profiling are genetic analyses, additional testing of RNA, protein and immune parameters are being developed and incorporated in clinical research and are likely to contribute significantly to future patient selection and treatment approaches. As the advances in tumor biology and human genetics have identified promising tumor targets, the ongoing clinical evaluation of novel agents will now need to show if the promise can be translated into benefit for patients. PMID:25183480

  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. Genetic screening, health care and the insurance industry. Should genetic information be made available to insurers?

    PubMed

    Ossa, Diego F; Towse, Adrian

    2004-06-01

    The potential use of genetic tests in insurance has raised concerns about discrimination and individuals losing access to health care either because of refusals to test for treatable diseases, or because test-positives cannot afford premiums. Governments have so far largely sought to restrict the use of genetic information by insurance companies. To date the number of tests available with significant actuarial value is limited. However, this is likely to change, raising more clearly the question as to whether the social costs of adverse selection outweigh the social costs of individuals not accessing health care for fear of the consequences of test information being used in insurance markets. In this contribution we set out the policy context and model the potential trade-offs between the losses faced by insurers from adverse selection by insurees (which will increase premiums reducing consumer welfare) and the detrimental health effects that may result from persons refusing to undergo tests that could identify treatable health conditions. It argues that the optimal public policy on genetic testing should reflect overall societal benefit, taking account of these trade-offs. Based on our model, the factors that influence the outcome include: the size of and value attached to the health gains from treatment; deterrent effects of a disclosure requirement on testing for health reasons; incidence of the disease; propensity of test-positives to adverse select; policy value adverse selectors buy in a non-disclosure environment; and price elasticity of demand for insurance. Our illustrative model can be used as a benchmark for developing other scenarios or incorporating real data in order to address the impact of different policies on disclosure and requirement to test.

  6. Using genetic technologies to reduce, rather than widen, health disparities

    Technology Transfer Automated Retrieval System (TEKTRAN)

    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 medicin...

  7. Reducing psychological distress in patients undergoing chemotherapy.

    PubMed

    Milanti, Ariesta; Metsälä, Eija; Hannula, Leena

    Psychological distress is a common problem among patients with cancer, yet it mostly goes unreported and untreated. This study examined the association of a psycho-educational intervention with the psychological distress levels of breast cancer and cervical cancer patients undergoing chemotherapy. The design of the study was quasi-experimental, pretest-posttest design with a comparison group. One hundred patients at a cancer hospital in Jakarta, Indonesia, completed Distress Thermometer screening before and after chemotherapy. Fifty patients in the intervention group were given a psycho-educational video with positive reappraisal, education and relaxation contents, while receiving chemotherapy. Patients who received the psycho-educational intervention had significantly lower distress levels compared with those in the control group. Routine distress screening, followed by distress management and outcome assessment, is needed to improve the wellbeing of cancer patients.

  8. 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

  9. Schizotypal Personality Disorder

    MedlinePlus

    Schizotypal personality disorder Overview By Mayo Clinic Staff People with schizotypal personality disorder are often described as odd or eccentric ... in social situations, as the person with schizotypal personality disorder responds inappropriately to social cues and holds ...

  10. 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

  11. Personalized medicine in rheumatology.

    PubMed

    Kłak, Anna; Paradowska-Gorycka, Agnieszka; Kwiatkowska, Brygida; Raciborski, Filip

    2016-01-01

    In the era of the 21(st) century, rheumatoid arthritis (RA) is still poorly characterized. Rheumatoid arthritis is a common but heterogeneous disease, not only in the course and clinical symptoms, but also in the clinical response to treatment. Now it is known that early, correct diagnosis and starting treatment with disease-modifying drugs (DMARDs), of which methotrexate (MTX) remains the gold standard in the treatment of RA, is crucial in order to prevent joint destruction, functional disability and an unfavourable disease outcome. Early diagnosis of rheumatoid arthritis is significant in so much as the primary treatment can be started better. Pharmacogenetic and pharmacogenomic studies, which help determine the genetic profile of individual patients, may bring us closer to personalized medicine. Further studies on RA should allow for the identification of disease-specific genes at the stage when their tolerance by the organism is still preserved (before auto-aggression develops).

  12. Personalized medicine in rheumatology

    PubMed Central

    Kłak, Anna; Kwiatkowska, Brygida; Raciborski, Filip

    2016-01-01

    In the era of the 21st century, rheumatoid arthritis (RA) is still poorly characterized. Rheumatoid arthritis is a common but heterogeneous disease, not only in the course and clinical symptoms, but also in the clinical response to treatment. Now it is known that early, correct diagnosis and starting treatment with disease-modifying drugs (DMARDs), of which methotrexate (MTX) remains the gold standard in the treatment of RA, is crucial in order to prevent joint destruction, functional disability and an unfavourable disease outcome. Early diagnosis of rheumatoid arthritis is significant in so much as the primary treatment can be started better. Pharmacogenetic and pharmacogenomic studies, which help determine the genetic profile of individual patients, may bring us closer to personalized medicine. Further studies on RA should allow for the identification of disease-specific genes at the stage when their tolerance by the organism is still preserved (before auto-aggression develops). PMID:27826172

  13. Personality development and temperament.

    PubMed

    Berger, M

    1982-01-01

    This paper identifies a number of problems that emerge in our attempts to trace a developmental linkage between early-appearing individual differences in temperament and later personality. It is suggested that the major problem is that of inadequate theory, from which it follows that there will be problems of definition and methodology. Attention is also drawn to difficulties associated with the concept of 'development'. Certain early-appearing individual difference are identified, for which there is accumulating evidence of a genetic or constitutional basis. Further, these appear to show some stability and are accorded an important role in a number of theories, especially that of Eysenck. It is suggested that his approach, despite its many limitations, is worth further exploration.

  14. 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.

  15. 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

  16. Genetic testing in ALS

    PubMed Central

    McLaughlin, Russell L.; Heverin, Mark; Thorpe, Owen; Abrahams, Sharon; Al-Chalabi, Ammar; Hardiman, Orla

    2017-01-01

    Objective: To determine the degree of consensus among clinicians on the clinical use of genetic testing in amyotrophic lateral sclerosis (ALS) and the factors that determine decision-making. Methods: ALS researchers worldwide were invited to participate in a detailed online survey to determine their attitudes and practices relating to genetic testing. Results: Responses from 167 clinicians from 21 different countries were analyzed. The majority of respondents (73.3%) do not consider that there is a consensus definition of familial ALS (FALS). Fifty-seven percent consider a family history of frontotemporal dementia and 48.5% the presence of a known ALS genetic mutation as sufficient for a diagnosis of FALS. Most respondents (90.2%) offer genetic testing to patients they define as having FALS and 49.4% to patients with sporadic ALS. Four main genes (SOD1, C9orf72, TARDBP, and FUS) are commonly tested. A total of 55.2% of respondents would seek genetic testing if they had personally received a diagnosis of ALS. Forty-two percent never offer presymptomatic testing to family members of patients with FALS. Responses varied between ALS specialists and nonspecialists and based on the number of new patients seen per year. Conclusions: There is a lack of consensus among clinicians as to the definition of FALS. Substantial variation exists in attitude and practices related to genetic testing of patients and presymptomatic testing of their relatives across geographic regions and between experienced specialists in ALS and nonspecialists. PMID:28159885

  17. 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.

  18. Genetics of fibromyalgia.

    PubMed

    Buskila, Dan; Neumann, Lily

    2005-10-01

    The pathogenesis of fibromyalgia (FM) and related conditions is not entirely understood. Recent evidence suggests that these syndromes may share heritable pathophysiologic features. Familial studies suggest that genetic and familial factors may play a role in the etiopathogenesis of these conditions. There is evidence that polymorphisms of genes in the serotoninergic and catecholaminergic systems are linked to the pathophysiology of FM and related conditions and are associated with personality traits. The precise role of genetic factors in the etiopathology of FM remains unknown, but it is likely that several genes are operating together to initiate this syndrome. Larger longitudinal studies are needed to better clarify the role of genetics in the development of FM.

  19. 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.

  20. Putting medical genetics into practice.

    PubMed

    Ferguson-Smith, Malcolm A

    2011-01-01

    This article describes a fragment of history on the growing impact of genetics on the practice of medicine over 50 years, as experienced by a medical geneticist who helped to provide services to patients at risk of genetic disorders. It is a personal account influenced by a fascination with chromosomes that has drawn him into many studies, including sex determination, gene discovery, fetal diagnosis, phylogenomics, and karyotype evolution.

  1. Genetic counseling

    MedlinePlus

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

  2. 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 ...

  3. Genetic modification and genetic determinism.

    PubMed

    Resnik, David B; Vorhaus, Daniel B

    2006-06-26

    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.

  4. 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

  5. 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.

  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. A Preoperative Personalized Risk Assessment Calculator for Elderly Ovarian Cancer Patients undergoing Primary Cytoreductive Surgery

    PubMed Central

    Barber, Emma L; Rutstein, Sarah; Miller, William C; Gehrig, Paola A

    2015-01-01

    Objective Cytoreductive surgery for ovarian cancer has higher rates of postoperative complication than neoadjuvant chemotherapy followed by surgery. If patients at high risk of postoperative complication were identified preoperatively, primary therapy could be tailored. Our objective was to develop a predictive model to estimate the risk of major postoperative complication after primary cytoreductive surgery among elderly ovarian cancer patients. Methods Patients who underwent primary surgery for ovarian cancer between 2005-2013 were identified from the National Surgical Quality Improvement Project. Patients were selected using primary procedure CPT codes. Major complications were defined as grade 3 or higher complications on the validated Claviden-Dindo scale. Using logistic regression, we identified demographic and clinical characteristics predictive of postoperative complication. Results We identified 2,101 ovarian cancer patients of whom 35.9% were older than 65. Among women older than 65, the rate of major postoperative complication was 16.4%. Complications were directly associated with preoperative laboratory values (serum creatinine, platelets, white blood cell count, hematocrit), ascites, white race, and smoking status, and indirectly associated with albumin. Our predictive model had an area under receiver operating characteristic curve of 0.725. In order to not deny patients necessary surgery, we chose a 50% population rate of postoperative complication which produced model sensitivity of 9.8% and specificity of 98%. Discussion Our predictive model uses easily and routinely obtained objective preoperative factors to estimate the risk of postoperative complication among elderly ovarian cancer patients. This information can be used to assess risk, manage postoperative expectations, and make decisions regarding initial treatment. PMID:26432038

  8. What counts as effective genetic counselling for presymptomatic testing in late-onset disorders? A study of the consultand's perspective.

    PubMed

    Guimarães, Lídia; Sequeiros, Jorge; Skirton, Heather; Paneque, Milena

    2013-08-01

    Genetic counselling must be offered in the context of presymptomatic testing (PST) for severe late-onset diseases; however, effective genetic counselling is not well defined, and measurement tools that allow a systematic evaluation of genetic practice are still not available. The aims of this qualitative study were to (1) recognize relevant aspects across the whole process of genetic counselling in PST for late-onset neurodegenerative disorders that might indicate effective practice from the consultand's perspective; and (2) analyse aspects of current protocols of counselling that might be relevant for successful practice. We interviewed 22 consultands undergoing PST for late-onset neurological disorders (Huntington disease, spinocerebellar ataxias and familial amyloid polyneuropathy ATTRV30M) in the three major counselling services for these diseases in Portugal. The main themes emerging from the content analysis were (1) the consultand's general assessment of the PST process in genetic services; (2) appropriateness and adaptation of the protocol to the consultand's personal expectations and needs; and (3) consultand's experience of the decision-making process and the role of engagement and counselling skills of the counsellor. Participants also provided a set of recommendations and constructive criticisms relating to the length of the protocol, the time gap between consultations and the way results were delivered. These issues and the construction of the relationship between counsellor and counselee should be further investigated and used for the improvement of current protocols of counselling.

  9. Needed Research on the Genes and Environment in Human Psychological Development: Perspectives from Behavior Genetics. A Special Report of the USOE-Sponsored Grant Study: Critical Appraisal of Research in the Personality-Emotions-Motivation Domain.

    ERIC Educational Resources Information Center

    Loehlin, John C.; And Others

    The task group report presented in this publication is one of a series prepared by eminent psychologists who have served as consultants in the U.S.O.E.-sponsored grant study to conduct a Critical Appraisal of the Personality-Emotions-Motivation Domain. In order to attain the goal of identifying important problems and areas for new research and…

  10. 76 FR 27326 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-05-11

    ... Interpretation is a national systematic study investigating how the rapid evolution of laboratory medicine is... undergoing rapid change with the continuing introduction of new tests, increased focus on...

  11. 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.

  12. Listeria monocytogenes meningitis in a human immunodeficiency virus-positive patient undergoing hemodialysis.

    PubMed

    Calubiran, O V; Horiuchi, J; Klein, N C; Cunha, B A

    1990-01-01

    Listeria monocytogenes bacteremia without meningitis has been reported in patients who have undergone long-term hemodialysis and have transfusional iron overload. On the other hand, cases of Listeria bacteremia without meningitis have occurred sporadically among the acquired immunodeficiency syndrome population, mostly homosexuals. There have been no reports of Listeria meningitis occurring among persons who are antibody positive to human immunodeficiency virus or are intravenous drug abusers having chronic renal failure and undergoing hemodialysis. This patient represents the first case of Listeria bacteremia and meningitis to occur in an intravenous drug abuser who is human immunodeficient antibody positive, is receiving hemodialysis, and has transfusional iron overload.

  13. Personal genomics services: whose genomes?

    PubMed Central

    Gurwitz, David; Bregman-Eschet, Yael

    2009-01-01

    New companies offering personal whole-genome information services over the internet are dynamic and highly visible players in the personal genomics field. For fees currently ranging from US$399 to US$2500 and a vial of saliva, individuals can now purchase online access to their individual genetic information regarding susceptibility to a range of chronic diseases and phenotypic traits based on a genome-wide SNP scan. Most of the companies offering such services are based in the United States, but their clients may come from nearly anywhere in the world. Although the scientific validity, clinical utility and potential future implications of such services are being hotly debated, several ethical and regulatory questions related to direct-to-consumer (DTC) marketing strategies of genetic tests have not yet received sufficient attention. For example, how can we minimize the risk of unauthorized third parties from submitting other people's DNA for testing? Another pressing question concerns the ownership of (genotypic and phenotypic) information, as well as the unclear legal status of customers regarding their own personal information. Current legislation in the US and Europe falls short of providing clear answers to these questions. Until the regulation of personal genomics services catches up with the technology, we call upon commercial providers to self-regulate and coordinate their activities to minimize potential risks to individual privacy. We also point out some specific steps, along the trustee model, that providers of DTC personal genomics services as well as regulators and policy makers could consider for addressing some of the concerns raised below. PMID:19259127

  14. Use of Dexmedetomidine in Patients Undergoing Craniotomies

    PubMed Central

    Jadhav, Nalini; Wagaskar, Vinayak; Kondwilkar, Bharati; Patil, Rajesh

    2017-01-01

    Introduction The neuroanaesthesia ensures stable perioperative cerebral haemodynamics, avoids sudden rise in intracranial pressure and prevents acute brain swelling. The clinical characteristics of dexmeditomidine make this intravenous agent a potentially attractive adjunct for neuroanaesthesia and in the neurological intensive care unit. Aim This study aimed to assess the effect of dexmedetomidine on intraoperative haemodynamic stability and to assess the intraoperative requirements of analgesic and other anaesthetic agents, and also to assess postoperative sedation, respiratory depression and any other side effects of dexmedetomidine as compared to placebo. Materials and Methods This prospective randomized study was done in 60 patients of either sex, age between 18 to 60 years and American Society of Anaesthesiologist (ASA) Grade I and II undergoing elective craniotomies under General Anaesthesia (GA) for intracranial Space Occupying Lesion (SOL). These 60 patients underwent thorough history, clinical examination and laboratory investigations. They were randomly divided into two groups, Group D (received Inj. Dexmedetomidine) and Group P (received Inj. Placebo). During bolus and infusion Heart Rate (HR), Systolic Blood Pressure (SBP), Diastolic Blood Pressure (DBP), Mean Arterial Pressure (MAP), Peripheral oxygen saturation (SPO2) was recorded at every five minutes interval for first 20 minute. Results The mean age in Group D was 39.5 years and in Group P was 40 years. The sex distribution in two groups was in Group D, 12 patients (40%) were females and 18 (60%) patients were males. While in Group P 10 (33.3%) were females and 20 (66.7%) patients were males. The two groups were comparable with respect to diagnosis and type of surgery of patients and difference was not statistically significant. The mean HR, the mean DBP and the mean MAP was lower in Group D as compared to Group P and the difference was statistically significant. Conclusion Dexmedetomidine

  15. The burden of bowel preparations in patients undergoing elective colonoscopy

    PubMed Central

    El Reda, Zeinab D; Harb, Ali H; Abou Fadel, Carla G; Sarkis, Fayez S; Chalhoub, Jean M; Abou Mrad, Rachel

    2015-01-01

    Background An adequate bowel preparation is an important quality measure for optimal colonoscopy. Aims The aim of this article is to study the burden of bowel preparations by examining seven specific variables (hunger, taste, volume, sleep, social, work, and adverse events (AEs)). Methods Ambulatory patients undergoing elective colonoscopy completed a questionnaire regarding their experience with the prescribed preparation. The seven study variables were graded using a numerical scale of 0–10 (best to worst). A score >6 was considered to indicate a significant impact and used as primary outcome. Patients were also asked to grade in descending order what they perceived as the worst aspect of the preparation. Results A total of 216 patients completed the survey. Preparations consisted of split-dose sodium picosulfate (SPS) (n = 49), split-dose 4 l PEG ± menthol (n = 49), full-dose PEG (n = 68), and 2 l split-dose PEG + ascorbic acid (n = 50). Except for work and AEs, all variables were considered to have a negative impact by >20% of patients (range 20.4–34.2). SPS was superior to PEG regimens in taste (4.1% vs. 35.9%) and volume (0% vs. 44.9%) (p < 0.05 for both) but inferior for hunger (30.6% vs. 19.2%; p = 0.09). The addition of menthol to PEG significantly improved taste (22.4% vs. 41.5%; p = 0.02). Sleep disturbances were most common with SPS and least with split-dose PEG (30.6% vs. 17.4%; p < 0.05). Overall, patients ranked volume, taste, and hunger as most burdensome. Conclusions The burden of bowel preparation is substantial. An informed personalized choice of preparation may improve adherence, tolerability and colon cleansing. PMID:27087962

  16. Dizziness and Falls in Obese Inpatients Undergoing Metabolic Rehabilitation

    PubMed Central

    Corna, Stefano; Aspesi, Valentina; Cau, Nicola; Scarpina, Federica; Gattini Valdés, Natalia; Brugliera, Luigia; Cimolin, Veronica

    2017-01-01

    Aim The relationship between dizziness and falls in the obese population is a relatively unexplored issue. The aims of the present study were to define the 1-year prevalence of dizziness in an obese inpatient population undergoing metabolic rehabilitation and to investigate possible correlations with fall events. Materials and Methods We recruited 329 obese subjects: 203 female (BMI 43,74 kg/m2 ± 0.5 SE; age 17–83 years, 58.33 ± 0.9 SE) and 126 male (BMI 44,27kg/m2 ± 0.7 DE age 27–79 years, 58.84 ± 1 SE). To assess dizziness we used the validated Italian version (38) of the Dizziness Handicap Inventory (DHI). Results Out of the experimental sample, 100 subjects did not complain of dizziness and felt confident about their balance control, while 69.6% reported some degree of dizziness. Their mean DHI score was 22.3, which corresponds to mild dizziness. Twenty-one percent reported more severe dizziness (DHI score > 40). The majority of our sample reported minor dizziness and its perception appears to be independent from BMI: DHI scores were consistent across classes of obesity. Discussion The rate of dizziness and falls (30.1%) in an this obese population was higher than that previously reported in a general matched population. However, obese subjects, in our sample, seem to underestimate their risk of fall and DHI score does not appear a reliable predictor of falls. Since complications associated with falls in obese persons generally require longer treatments than in lean individuals, our findings should be taken into account in order to identify other predictors, including cognitive and perceptual, of risk of fall and to implement fall prevention programs. PMID:28076370

  17. Meiosis I: when chromosomes undergo extreme makeover.

    PubMed

    Miller, Matthew P; Amon, Angelika; Ünal, Elçin

    2013-12-01

    The ultimate success of cell division relies on the accurate partitioning of the genetic material. Errors in this process occur in nearly all tumors and are the leading cause of miscarriages and congenital birth defects in humans. Two cell divisions, mitosis and meiosis, use common as well as unique mechanisms to ensure faithful chromosome segregation. In mitosis, alternating rounds of DNA replication and chromosome segregation preserve the chromosome complement of the progenitor cell. In contrast, during meiosis two consecutive rounds of nuclear division, meiosis I and meiosis II, follow a single round of DNA replication to reduce the chromosome complement by half. Meiosis likely evolved through changes to the mitotic cell division program. This review will focus on the recent findings describing the modifications that transform mitosis into meiosis.

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

    PubMed Central

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

    2013-01-01

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

  19. 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.

  20. 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.

  1. 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.

  2. Histrionic personality disorder

    MedlinePlus

    Personality disorder - histrionic; Attention seeking - histrionic personality disorder ... Causes of histrionic personality disorder are unknown. Genes and early childhood events may be responsible. It is diagnosed more often in women than ...

  3. Schizoid Personality Disorder

    MedlinePlus

    Schizoid personality disorder Overview By Mayo Clinic Staff Schizoid personality disorder is an uncommon condition in which people avoid ... range of emotional expression. If you have schizoid personality disorder, you may be seen as a loner ...

  4. [Genetic examinations in health care].

    PubMed

    Indulski, J A; Lutz, W

    1996-01-01

    Genes are one of the most important indicators of disease incidence. Almost each diseases results from incorrect function of one or more genes. The disclosure of disease genetically conditioned depends, in many cases, on the effect of a broad spectrum of different environmental factors. Screening tests for carries of defective genes play a key role in the detection of risk for genetically conditioned diseases. Screening tests carried out for many years yielded a very diversified results. Some of them, for example, the screening test for the gene responsible for Tay-Sachs disease, produced good results, whereas results of other tests, like the test for the gene responsible for crescent anaemia, proved to be unsatisfactory. Among genetically conditioned diseases, neoplastic diseases are the subject of particular interest. It is already known that these diseases may be attributed to the accumulation of genetic errors in a normal cell, and that this phenomena applies to certain categories of genes. An analysis of genetic material of persons from the families with higher cancer incidence revealed the relationship between cancer and inheritance of some defective genes. Nevertheless, it should be stressed that the development of cancer is not definitely foregone even if genetic features of cancer disease are detected in a given person. The presence of such features only indicates an inborn or acquired defect (as a result of mutation) that predisposes him/her to illness. A great progress in molecular oncology made during the last years and the development of genetic maps relevant to neoplastic diseases should contribute to the detection of such genetic markers which could facilitate the identification of persons with a higher risk for neoplastic diseases and allow to take relevant preventive measures in due time.

  5. 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.

  6. Sex ratio dynamics and fluctuating selection on personality.

    PubMed

    Del Giudice, Marco

    2012-03-21

    Fluctuating selection has often been proposed as an explanation for the maintenance of genetic variation in personality. Here I argue that the temporal dynamics of the sex ratio can be a powerful source of fluctuating selection on personality traits, and develop this hypothesis with respect to humans. First, I review evidence that sex ratios modulate a wide range of social processes related to mating and parenting. Since most personality traits affect mating and parenting behavior, changes in the sex ratio can be expected to result in variable selection on personality. I then show that the temporal dynamics of the sex ratio are intrinsically characterized by fluctuations at various timescales. Finally, I address a number of evolutionary genetic challenges to the hypothesis. I conclude that the sex ratio hypothesis is a plausible explanation of genetic variation in human personality, and may be fruitfully applied to other species as well.

  7. Genetic testing of the short child.

    PubMed

    Johnston Rohrbasser, L B

    2011-01-01

    Increased understanding of the pathogenetics of short stature and readily available genetic testing have changed the face of diagnostic endocrinology. It remains essential, however, that each short child undergoes detailed clinical, auxological and traditional endocrine assessment to determine which gene (or genes) to study. Diagnostic algorithms and clinical scoring systems are reviewed and the implications of genetic testing for determination of therapy type are discussed. At present, results from genetic testing do not reliably indicate which growth-promoting therapy would be most effective. However, pharmacogenetic testing may play a future role in the individualisation of therapy.

  8. 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…

  9. Romantic Relationship Satisfaction Moderates the Etiology of Adult Personality

    PubMed Central

    South, Susan C.; Krueger, Robert F.; Elkins, Irene; Iacono, William G.; McGue, Matt

    2015-01-01

    The heritability of major normative domains of personality is well-established, with approximately half the proportion of variance attributed to genetic differences. In the current study, we examine the possibility of gene x environment interaction (GxE) for adult personality using the environmental context of intimate romantic relationship functioning. Personality and relationship satisfaction are significantly correlated phenotypically, but to date no research has examined how the genetic and environmental components of variance for personality differ as a function of romantic relationship satisfaction. Given the importance of personality for myriad outcomes from work productivity to psychopathology, it is vital to identify variables present in adulthood that may affect the etiology of personality. In the current study, quantitative models of GxE were used to determine whether the genetic and environmental influences on personality differ as a function of relationship satisfaction. We drew from a sample of now-adult twins followed longitudinally from adolescence through age 29. All participants completed the Multidimensional Personality Questionnaire (MPQ) and an abbreviated version of the Dyadic Adjustment Scale (DAS). Biometric moderation was found for eight of the eleven MPQ scales examined: Well-Being, Social Potency, Negative Emotionality, Alienation, Aggression, Constraint, Traditionalism, and Absorption. The pattern of findings differed, suggesting that the ways in which relationship quality moderates the etiology of personality may depend on the personality trait. PMID:26581694

  10. Romantic Relationship Satisfaction Moderates the Etiology of Adult Personality.

    PubMed

    South, Susan C; Krueger, Robert F; Elkins, Irene J; Iacono, William G; McGue, Matt

    2016-01-01

    The heritability of major normative domains of personality is well-established, with approximately half the proportion of variance attributed to genetic differences. In the current study, we examine the possibility of gene × environment interaction (G×E) for adult personality using the environmental context of intimate romantic relationship functioning. Personality and relationship satisfaction are significantly correlated phenotypically, but to date no research has examined how the genetic and environmental components of variance for personality differ as a function of romantic relationship satisfaction. Given the importance of personality for myriad outcomes from work productivity to psychopathology, it is vital to identify variables present in adulthood that may affect the etiology of personality. In the current study, quantitative models of G×E were used to determine whether the genetic and environmental influences on personality differ as a function of relationship satisfaction. We drew from a sample of now-adult twins followed longitudinally from adolescence through age 29. All participants completed the Multidimensional Personality Questionnaire (MPQ) and an abbreviated version of the Dyadic Adjustment Scale. Biometric moderation was found for eight of the eleven MPQ scales examined: well-being, social potency, negative emotionality, alienation, aggression, constraint, traditionalism, and absorption. The pattern of findings differed, suggesting that the ways in which relationship quality moderates the etiology of personality may depend on the personality trait.

  11. 14 CFR 204.5 - Certificated and commuter air carriers undergoing or proposing to undergo substantial change in...

    Code of Federal Regulations, 2011 CFR

    2011-01-01

    ... undergoing or proposing to undergo substantial change in operations, ownership, or management. 204.5 Section..., ownership, or management. (a) A certificated or commuter air carrier proposing a substantial change in... operations, management, or ownership, including changes that may affect the air carrier's citizenship,...

  12. 14 CFR 204.5 - Certificated and commuter air carriers undergoing or proposing to undergo substantial change in...

    Code of Federal Regulations, 2010 CFR

    2010-01-01

    ... undergoing or proposing to undergo substantial change in operations, ownership, or management. 204.5 Section..., ownership, or management. (a) A certificated or commuter air carrier proposing a substantial change in... operations, management, or ownership, including changes that may affect the air carrier's citizenship,...

  13. Affective temperament and personal identity.

    PubMed

    Stanghellini, Giovanni; Rosfort, René

    2010-10-01

    The complex relationship between temperament and personal identity, and between these and mental disorders, is of critical interest to both philosophy and psychopathology. More than other living creatures, human beings are constituted and characterized by the interplay of their genotype and phenotype. There appears to be an explanatory gap between the almost perfect genetic identity and the individual differences among humans. One reason for this gap is that a human being is a person besides a physiological organism. We propose an outline of a theoretical model that might somewhat mitigate the explanatory discrepancies between physiological mechanisms and individual human emotional experience and behaviour. Arguing for the pervasive nature of human affectivity, i.e., for the assumption that human consciousness and behaviour is characterised by being permeated by affectivity; to envisage the dynamics of emotional experience, we make use of a three-levelled model of human personal identity that differentiates between factors that are simultaneously at work in the constitution of the individual human person: 1) core emotions, 2) affective temperament types/affective character traits, and 3) personhood. These levels are investigated separately in order to respect the methodological diversity among them (neuroscience, psychopathology, and philosophy), but they are eventually brought together in a hermeneutical account of human personhood.

  14. Cancers related to genetic mutations

    PubMed Central

    Power, Tara E.; Robinson, John

    2006-01-01

    OBJECTIVE To review psychosocial issues family physicians might wish to be aware of when discussing genetic testing for predisposition for cancer with their patients. QUALITY OF EVIDENCE Articles from academic journals were reviewed. Studies provided level II and III evidence. MAIN MESSAGE Family physicians should be prepared to explore their patients’ decisions for or against genetic testing, as well as to discuss the possible outcomes of a decision to test. While genetic testing has many potential benefits, patients are at risk of having psychosocial problems at many stages in a genetic testing inquiry. To minimize these problems, family physicians should discuss motivation for testing and the potential psychosocial effect of both deciding to undergo and deciding to forgo genetic testing for cancer-related genes. Also important are deciding whether patients qualify for the tests; coping with the waiting period before testing can be done; and discussing positive, negative, and inconclusive outcomes of testing. CONCLUSION Family physicians are likely in the best position to discuss genetic testing for predisposition for cancer with their patients given their knowledge of both the tests and their patients’ ability to cope with testing. PMID:17279200

  15. 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.

  16. 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

  17. 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)

  18. Genetic Drift of HIV Populations in Culture

    PubMed Central

    Voronin, Yegor; Holte, Sarah; Overbaugh, Julie; Emerman, Michael

    2009-01-01

    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. PMID:19300501

  19. The genetics of neuroticism and human values.

    PubMed

    Zacharopoulos, George; Lancaster, Thomas M; Maio, Gregory R; Linden, David E J

    2016-04-01

    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.

  20. 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

  1. 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…

  2. 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

  3. 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

  4. 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.

  5. 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

  6. Factors Affecting Patients Undergoing Cosmetic Surgery in Bushehr, Southern Iran

    PubMed Central

    Salehahmadi, Zeinab; Rafie, Seyyed Reza

    2012-01-01

    BACKGROUND Although, there have been extensive research on the motivations driving patient to undergo cosmetic procedures, there is still a big question mark on the persuasive factors which may lead individuals to undergo cosmetic surgery. The present study evaluated various factors affecting patients undergoing cosmetic surgery in Bushehr, Southern Iran. METHODS From 24th March 2011 to 24th March 2012, eighty-one women and 20 men who wished to be operated in Fatemeh Zahra Hospital in Bushehr, Southern Iran and Pars Clinic, Iran were enrolled by a simple random sampling method. They all completed a questionnaire to consider reasons for cosmetic procedures. The collected data were statistically analyzed. RESULTS Demographical, sociological and psychological factors such as age, gender, educational level, marital status, media, perceived risks, output quality, depression and self-improvement were determined as factors affecting tendency of individuals to undergo cosmetic surgery in this region. Trend to undergo cosmetic surgery was more prevalent in educational below bachelor degree, married subjects, women population of 30-45 years age group. Education level, age, marital status and gender were respectively the influential factors in deciding to undergo cosmetic surgery. Among the socio-psychological factors, self-improvement, finding a better job opportunity, rivalry, media, health status as well as depression were the most persuasive factors to encourage people to undergo cosmetic surgery too. Cost risk was not important for our samples in decision making to undergo cosmetic surgery. CONCLUSION We need to fully understand the way in which the combination of demographic, social and psychological factors influence decision-making to undergo cosmetic surgery. PMID:25734051

  7. [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.

  8. 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.

  9. 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.

  10. 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…

  11. Awareness, attitudes and perspectives of direct-to-consumer genetic testing in Greece: a survey of potential consumers.

    PubMed

    Mavroidopoulou, Vasiliki; Xera, Ellie; Mollaki, Vasiliki

    2015-09-01

    Direct-to-consumer genetic testing (DTCGT) is now offered by numerous companies. The present survey aimed to explore awareness, interest, reasons to take and refuse DTCGT, and understanding of results amongst 725 higher education students in Greece. A third of the responders were aware of DTCGT and interest was dependent on cost. More than 60% of the participants would undergo DTCGT to learn more about their health, to warn their children, so that their doctor can monitor their health and change their lifestyle. Nevertheless, they would prefer to consult their doctor first and expressed concerned about their personal data. After receiving results from a hypothetical DTC genetic test predicting higher risk for colon cancer, 59.5% of the responders thought that they could understand the results but 46.1% believed that the results have diagnostic value. In total, 83.6% of the participants would ask their doctor to explain the results and 70.4% would discuss results with their family. In conclusion, the majority of higher education students in Greece appreciate the benefits of genetic testing but with the involvement of their doctor. A physician's participation in the process and informing the public about the true value of genetic testing, are crucial to avoid misinterpretation of DTCGT results.

  12. Behavioral phenotypes in genetic syndromes: genetic clues to human behavior.

    PubMed

    Cassidy, Suzanne B; Morris, Colleen A

    2002-01-01

    A behavioral phenotype is the characteristic cognitive, personality, behavioral, and psychiatric pattern that typifies a disorder. A number of genetic syndromes have been identified as having this type of distinctive and consistent behavior pattern. It may act as an important diagnostic sign, like a malformation or characteristic facial appearance. Such patterns are also useful for the physician's anticipatory guidance from an educational, rehabilitative, and parenting perspective. In addition, because they are the consequences of known genetic alterations, behavioral phenotypes can be potentially highly valuable clues to the identification of genes in the population that are important to determination of cognitive skills or deficits, personality determinants, behavioral abnormalities, or psychiatric disorders. The nature of a behavioral phenotype and its potential for genetic insight can be appreciated through the examples of Williams syndrome, Prader-Willi syndrome, and Angelman syndrome. The cognitive and behavioral characteristics of these disorders are distinctive. Williams syndrome is known for its association with remarkable conversational verbal abilities and excessive empathy, whereas Prader-Willi syndrome is known for temper tantrums and obsessive-compulsive features, and Angelman syndrome is associated with a constantly happy affect and hyperactivity. The genetic basis for each of these disorders is known, and the pathophysiology and genotype-phenotype correlations are beginning to provide insight into genes responsible for personality characteristics and behavioral abnormalities.

  13. 76 FR 18553 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-04-04

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction... in clients' self-reported HIV transmission risk behaviors after participating in the intervention... participant will complete a 20 minute, self administered, computer based interview prior to...

  14. 76 FR 17867 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-03-31

    ... HUMAN SERVICES Agency for Toxic Substances and Disease Registry Agency Forms Undergoing Paperwork Reduction Act Review The Agency for Toxic Substances and Disease Registry (ATSDR) publishes a list of... Disease Registry (ATSDR), Office of Noncommunicable Diseases, Injury, and Environmental Health...

  15. 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...

  16. 75 FR 63485 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-15

    ... Informatics, Division of Integrated Surveillance Systems and Services (DISSS). States will continue to use..., Integrating Public Health Information and Surveillance Systems, NEDSS includes data standards, an Internet... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork...

  17. Personal Computer Literacy: Personal and Professional Applications.

    ERIC Educational Resources Information Center

    Hiemstra, Roger; Tucker, Hugh

    The different uses to which two adult educators put their personal computers illustrate some of the many personal and professional applications of microcomputers and point to some implications for home computers in the field of adult education. Relying primarily upon prepared software packages, the first educator relies on his computer as a…

  18. Personalized medicine: CCO's vision, accomplishments and future plans.

    PubMed

    Guo, Jennifer; Kamel-Reid, Suzanne; Rutherford, Michael; Hart, Jennifer; Melamed, Saul; Pollett, Aaron

    2015-01-01

    Personalized medicine is a rapidly expanding field, with the potential to improve patient care. Its benefits include increasing efficiency in cancer screening, diagnosis and treatment through early detection, targeted therapy and identifying individuals with an underlying genetic risk for cancer or adverse outcomes. Through the work of Cancer Care Ontario (CCO)'s Pathology and Laboratory Medicine Program, a number of initiatives have been undertaken to support developments in personalized medicine. In keeping with the momentum of recent accomplishments, CCO has led the formation of the Personalized Medicine Steering Committee to develop a comprehensive provincial genetics strategy for the future of cancer care.

  19. Genetic Alliance

    MedlinePlus

    ... all things Genetic Alliance, Expecting Health and more... Co-Creating A Healthy Future See all the photos, videos, slideshows and more that we co-created at our 30th Anniversary conference. BioTrust BioTrust ...

  20. Genetics (image)

    MedlinePlus

    ... chromosomes to their child, 22 autosomal and 1 sex chromosome. The inheritance of genetic diseases, abnormalities, or traits ... chromosome the abnormal gene resides on (autosomal or sex chromosome), and by whether the gene itself is dominant ...

  1. Genetic Counseling

    PubMed Central

    Reid, Kathryn J.; Sakati, Nadia; Prichard, Lorraine L.; Schneiderman, Lawrence J.; Jones, Oliver W.; Dixson, Barbara K.

    1976-01-01

    The geographic distribution of County Health Department clinic facilities in the state of California has made it readily possible to establish a regionalized program for genetic counseling services, using public health nurses as a major source of case-finding. From both consumer and health professional standpoints, regionalized satellite genetic counseling clinics have been successful, and in particular, the effectiveness of public health nurses in identifying clinical genetic problems is readily apparent. Long-term follow-up reinforcement of genetic counseling appears to be an important conclusion from these studies. It is our suggestion that reinforcement of counseling would best be accomplished through the health team member (physician, nurse and so forth) following the patient or family rather than through the consulting geneticist. PMID:946335

  2. Personalized Medicine: Pharmacogenomics and Drug Development.

    PubMed

    Mirsadeghi, Somayeh; Larijani, Bagher

    2017-03-01

    Personalized medicine aims is to supply the proper drug to the proper patient within the right dose. Pharmacogenomics (PGx) is to recognize genetic variants that may influence drug efficacy and toxicity. All things considered, the fields cover a wide area, including basic drug discovery researches, the genetic origin of pharmacokinetics and pharmacodynamics, novel drug improvement, patient genetic assessment and clinical patient administration. At last, the objective of Pharmacogenomics is to anticipate a patient's genetic response to a particular drug as a way of presenting the best possible medical treatment. By predicting the drug response of an individual, it will be possible to increase the success of therapies and decrease the incidence of adverse side effect.

  3. Chasing Mendel: five questions for personalized medicine

    PubMed Central

    Joyner, Michael J; Prendergast, Franklyn G

    2014-01-01

    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?’ PMID:24882820

  4. 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

  5. Drug & Gene Interaction Risk Analysis With & Without Genetic Testing Among Patients Undergoing MTM

    ClinicalTrials.gov

    2017-02-22

    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

  6. The Role of Aggressive Personality and Family Relationships in Explaining Family Conflict

    PubMed Central

    Horwitz, Briana N.; Ganiban, Jody M.; Spotts, Erica L.; Lichtenstein, Paul; Reiss, David; Neiderhiser, Jenae M.

    2011-01-01

    This study investigated whether genetic and environmental influences on global family conflict are explained by parents’ personality, marital quality, and negative parenting. The sample comprised 876 same-sex pairs of twins, their spouse, and one adolescent child per twin from the Twin and Offspring Study in Sweden (TOSS). Genetic influences on aggressive personality were correlated with genetic influences on global family conflict. Nonshared environmental influences on marital quality and negative parenting were correlated with nonshared environmental influences on global family conflict. Results suggest that parents’ personality and unique experiences within their family relationships are important for understanding genetic and environmental influences on global conflict in the home. PMID:21480697

  7. Shaping priorities in genetic medicine.

    PubMed

    Boyle, Philip J

    1995-01-01

    ... Such moral problems raise the question whether society should make all or only some of the potential and existing genetic technologies widely available. Add to this the very real concern that the throng of products and services generated through this research has the potential to put significant further pressure on a health care system that already cannot provide adequate services to all persons. Given current restructuring of U.S. health services along the lines of managed health care, the need and desire of public and private parties to manage health resources aggressively by controlling costs and quality of care will call the question about what services to make available, to whom, on what basis. By what criteria should priorities be set? Should genetic services sought by only a few be made available? Should genetic screening and testing be offered for conditions for which there is no cure? Should specific groups be targeted for the distribution of genetic services? Are any genetic services more important than others? Where do genetic services fit relative to other health services? And -- the perennial question -- who should make these decisions? What does the newly emerging debate over the fair distribution of health resources mean for genetics?

  8. The Heritability of Personality is not Always 50%: Gene-Environment Interactions and Correlations between Personality and Parenting

    PubMed Central

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

    2008-01-01

    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 to both 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. PMID:19012656

  9. Personality disorders in gay, lesbian, bisexual, and transgender chemically dependent patients.

    PubMed

    Grant, Jon E; Flynn, Meredith; Odlaug, Brian L; Schreiber, Liana R N

    2011-01-01

    This study sought to examine personality disorders and their related clinical variables in a sample of gay, lesbian, bisexual, and transgender (GLBT) individuals with substance use disorders. Study participants were 145 GLBT patients who were admitted to a residential dual diagnosis chemical dependency treatment program. A total of 136 (93.8%) had at least one personality disorder. The most common personality disorders were borderline (n = 93; 64.1%), obsessive-compulsive (n = 82; 56.6%), and avoidant (n = 71; 49.0%) personality disorders. Preliminary data suggest that there is a high prevalence of personality disorders in the GLBT population undergoing chemical dependency treatment. 

  10. 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)

  11. Personal protective equipment

    MedlinePlus

    ... medlineplus.gov/ency/patientinstructions/000447.htm Personal protective equipment To use the sharing features on this page, please enable JavaScript. Personal protective equipment is special equipment you wear to create a ...

  12. Paranoid personality disorder

    MedlinePlus

    Personality disorder - paranoid; PPD ... American Psychiatric Association. Paranoid personality disorder. Diagnostic and Statistical Manual of ental Disorders . 5th ed. Arlington, VA: American Psychiatric Publishing. 2013:649-652. Blais MA, ...

  13. Narcissistic Personality Disorder

    MedlinePlus

    ... to make you feel angry or defeated Key personal information, including traumatic events in your past and ... symptoms affect your life, including school, work and personal relationships? How do you feel — and act — when ...

  14. Borderline Personality Disorder

    MedlinePlus

    ... you have noticed, and for how long Key personal information, including traumatic events in your past and ... are these symptoms affecting your life, including your personal relationships and work? How often during the course ...

  15. Creativity, Personality and Intelligence.

    ERIC Educational Resources Information Center

    Wakefield, James A., Jr.; Goad, Nancy A.

    1981-01-01

    Creativity is discussed in terms of H. Eysenck's personality theory. Creative persons are characterized by introversion, neuroticism, psychoticism, and moderate to high intelligence. The literature is reviewed on similarities and differences between creativity and pathology. (Author/DB)

  16. Genetic screening

    PubMed Central

    Andermann, Anne; Blancquaert, Ingeborg

    2010-01-01

    Abstract OBJECTIVE To provide a primer for primary care professionals who are increasingly called upon to discuss the growing number of genetic screening services available and to help patients make informed decisions about whether to participate in genetic screening, how to interpret results, and which interventions are most appropriate. QUALITY OF EVIDENCE As part of a larger research program, a wide literature relating to genetic screening was reviewed. PubMed and Internet searches were conducted using broad search terms. Effort was also made to identify the gray literature. MAIN MESSAGE Genetic screening is a type of public health program that is systematically offered to a specified population of asymptomatic individuals with the aim of providing those identified as high risk with prevention, early treatment, or reproductive options. Ensuring an added benefit from screening, as compared with standard clinical care, and preventing unintended harms, such as undue anxiety or stigmatization, depends on the design and implementation of screening programs, including the recruitment methods, education and counseling provided, timing of screening, predictive value of tests, interventions available, and presence of oversight mechanisms and safeguards. There is therefore growing apprehension that economic interests might lead to a market-driven approach to introducing and expanding screening before program effectiveness, acceptability, and feasibility have been demonstrated. As with any medical intervention, there is a moral imperative for genetic screening to do more good than harm, not only from the perspective of individuals and families, but also for the target population and society as a whole. CONCLUSION Primary care professionals have an important role to play in helping their patients navigate the rapidly changing terrain of genetic screening services by informing them about the benefits and risks of new genetic and genomic technologies and empowering them to

  17. 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.

  18. Person-oriented perspectives in neurology.

    PubMed

    Lisak, Marijana; Demarin, Vida; Trkanjec, Zlatko; Zavoreo, Iris; Kes, Vanja Bašić

    2014-12-01

    Person-oriented medicine is characterized by a holistic approach in patient ma- nagement that embraces physical, psychological, social and spiritual aspects of health and dise- ase. It responds to the needs of patients and health care workers to form an effective therapeutic relationship based on trust, empathy, compassion and responsiveness to the individual needs of a patient. Person-oriented perspectives in neurology include active collaborative partnership between a physician and a patient, and intuitive perception, which has a neurobiological correlate in the hu- man mirror neuron system, thus expressing a considerable impact on the quality of the physician's diagnostic and therapeutic activities. On the other hand, personalized approach in medicine implies integration of clinical information and personal genotyping. Personalized neurology provides gene- based preclinical prediction of disease with improved risk assessment, early detection of disease and targeted intervention. The combination of personalized approach and clinical information accelera- tes the translation of genetic discoveries into clinical practice, which ultimately results in improved health care system. Person-oriented perspectives contribute significantly to the growing pluralism of medical science and provide a greater humanization of medicine, individualized treatment and autonomy during therapeutic processes.

  19. About Genetic Counselors

    MedlinePlus

    ... seeing a genetic counselor? Q. What is a genetic counselor? A. Genetic counselors are healthcare professionals with ... and serve as patient advocates. Q. What is genetic counseling? A. Genetic counseling is the process of ...

  20. 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 ...

  1. Discovering the Hidden Person.

    ERIC Educational Resources Information Center

    Zener, Rita; Ezcurdia, Laura Noriega

    1997-01-01

    Working from normalization theory, uses a graphical metaphor to illustrate the liberation of the "hidden self." Explains the layers of the metaphor, the "false person," the "intelligent, rational person," and the "hidden person," and offers several ways educators can work to uncover the layers surrounding…

  2. Personal, Anticipated Information Need

    ERIC Educational Resources Information Center

    Bruce, Harry

    2005-01-01

    Background: The role of personal information collections is a well known feature of personal information management. The World Wide Web has introduced to such collections ideas such as filing Web pages or noting their existence in "Bookmarks" and "Favourites". Argument: It is suggested that personal information collections are…

  3. 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…

  4. What Is Personalization?

    ERIC Educational Resources Information Center

    Keefe, James W.

    2007-01-01

    A personalized school is one in which each individual person, whether student or teacher, matters a great deal and has a program that is good for him or her. Today, schools are faced with an equally large transition from arbitrary grouping patterns to personalized learning alternatives. Unfortunately, they are also currently blessed with policy…

  5. Personality and Fibromyalgia Syndrome

    PubMed Central

    Malin, Katrina; Littlejohn, Geoffrey O

    2012-01-01

    Objectives: We aimed to review how personality characteristics contribute to the onset, maintenance or modulation of fibromyalgia. Method: The databases Medline and PsychINFO were examined from 1967 to 2012 to identify studies that investigated associations between fibromyalgia and personality. Search terms included fibromyalgia and personality, trait psychology, characteristics and individual differences. Results: Numerous studies indicate that patients with fibromyalgia experience psychological distress. Various instruments have been used to evaluate distress and related psychological domains, such as anxiety or depression, in fibromyalgia. In many cases, these same instruments have been used to study personality characteristics in fibromyalgia with a subsequent blurring of cause and effect between personality and psychological distress. In addition, the symptoms of fibromyalgia may change pre-illness personality characteristics themselves. These issues make it difficult to identify specific personality characteristics that might influence the fibromyalgia process. Despite this inherent problem with the methodologies used in the studies that make up this literature review, or perhaps because of it, we found no defined personality profile specific to fibromyalgia. However, many patients with fibromyalgia do show personality characteristics that facilitate psychological responses to stressful situations, such as catastrophising or poor coping techniques, and these in turn associate with mechanisms contributing to fibromyalgia. Conclusion: No specific fibromyalgia personality is defined but it is proposed that personality is an important filter that modulates a person’s response to psychological stressors. Certain personalities may facilitate translation of these stressors to physiological responses driving the fibromyalgia mechanism. PMID:23002409

  6. Personalized genomic disease risk of volunteers

    PubMed Central

    Gonzalez-Garay, Manuel L.; McGuire, Amy L.; Pereira, Stacey; Caskey, C. Thomas

    2013-01-01

    Next-generation sequencing (NGS) is commonly used for researching the causes of genetic disorders. However, its usefulness in clinical practice for medical diagnosis is in early development. In this report, we demonstrate the value of NGS for genetic risk assessment and evaluate the limitations and barriers for the adoption of this technology into medical practice. We performed whole exome sequencing (WES) on 81 volunteers, and for each volunteer, we requested personal medical histories, constructed a three-generation pedigree, and required their participation in a comprehensive educational program. We limited our clinical reporting to disease risks based on only rare damaging mutations and known pathogenic variations in genes previously reported to be associated with human disorders. We identified 271 recessive risk alleles (214 genes), 126 dominant risk alleles (101 genes), and 3 X-recessive risk alleles (3 genes). We linked personal disease histories with causative disease genes in 18 volunteers. Furthermore, by incorporating family histories into our genetic analyses, we identified an additional five heritable diseases. Traditional genetic counseling and disease education were provided in verbal and written reports to all volunteers. Our report demonstrates that when genome results are carefully interpreted and integrated with an individual’s medical records and pedigree data, NGS is a valuable diagnostic tool for genetic disease risk. PMID:24082139

  7. FDA Approves 1st Direct-to-Consumer Genetic Risk Tests

    MedlinePlus

    ... 164507.html FDA Approves 1st Direct-to-Consumer Genetic Risk Tests They screen for gene variants linked ... on Thursday approved the first direct-to-consumer genetic health risk tests. Known as the 23andMe Personal ...

  8. Mobile Phone Technology to Increase Genetic Counseling for Women with Ovarian Cancer and Their Families

    DTIC Science & Technology

    2015-06-01

    AWARD NUMBER: W81XWH-14-1-0102 TITLE: Mobile Phone Technology to Increase Genetic Counseling for Women with Ovarian Cancer and Their Families...11May2015 4. TITLE AND SUBTITLE 5a. CONTRACT NUMBER Mobile Phone Technology to Increase Genetic Counseling for Women with Ovarian Cancer and Their...Mobile Application for Genetic Information on Cancer (mAGIC) intervention to motivate ovarian cancer survivors to undergo genetic counseling. The

  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. 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.

  11. 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.

  12. Using Genetic Technologies To Reduce, Rather Than Widen, Health Disparities

    PubMed Central

    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.

    2016-01-01

    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

  13. 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

  14. 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.

  15. Clinical Cancer Genetics Disparities among Latinos.

    PubMed

    Cruz-Correa, Marcia; Pérez-Mayoral, Julyann; Dutil, Julie; Echenique, Miguel; Mosquera, Rafael; Rivera-Román, Keila; Umpierre, Sharee; Rodriguez-Quilichini, Segundo; Gonzalez-Pons, Maria; Olivera, Myrta I; Pardo, Sherly

    2016-12-12

    The three major hereditary cancer syndromes in Latinos (Hereditary Breast and Ovarian Cancer, Familial Adenomatous Polyposis and Lynch Syndrome) have been shown to exhibit geographic disparities by country of origin suggesting admixture-based disparities. A solid infrastructure of clinical genetics geared towards diagnosis and prevention could aid in reducing the mortality of these cancer syndromes in Latinos. Currently, clinical cancer genetic services in Latin America are scarce. Moreover, limited studies have investigated the mutational spectrum of these cancer syndromes in Latinos resulting in gaps in personalized medicine affecting diagnosis, treatment and prevention. The following commentary discusses available genotype and clinical information on hereditary cancer in Latinos and highlights the limited access for cancer genetic services in Latin America including barriers to genetic testing and alternatives for providing better access to genetic services. In this review, we discuss the status of clinical genetic cancer services for both US Latinos and those Latinos living in Latin America.

  16. Shedding new light on genetic dark matter

    PubMed Central

    2010-01-01

    Discoveries from genome-wide association studies have contributed to our knowledge of the genetic etiology of many complex diseases. However, these account for only a small fraction of each disease's heritability. Here, we comment on approaches currently available to uncover more of the genetic 'dark matter,' including an approach introduced recently by Naukkarinen and colleagues. These authors propose a method for distinguishing between gene expression driven by genetic variation and that driven by non-genetic factors. This dichotomy allows investigators to focus statistical tests and further molecular analyses on a smaller set of genes, thereby discovering new genetic variation affecting risk for disease. We need more methods like this one if we are to shed a powerful light on dark matter. By enhancing our understanding of molecular genetic etiology, such methods will help us to understand disease processes better and will advance the promise of personalized medicine. PMID:21067556

  17. [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.

  18. 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.

  19. Radiation hazards from horses undergoing scintigraphy using technetium-99m.

    PubMed

    Whitelock, R G

    1997-01-01

    This paper quantifies the extent of the radiation hazard to personnel from horses undergoing scintigraphy using technetium99m methylene diphosphonate (99Tcm-MDP). From the data produced it is possible to derive safe working protocols which are comfortably within the legislated limits for whole body doses as set out in the Ionising Radiations Regulations 1985. Measurements were made of the surface and environmental activities which result from individuals undergoing scintigraphic evaluation and also from urine contaminated bedding. The use of both high and low activities in the assessment of the radiation hazard to personnel and owners is considered.

  20. Parameter Inference for Biochemical Systems that Undergo a Hopf Bifurcation

    PubMed Central

    Kirk, Paul D. W.; Toni, Tina; Stumpf, Michael P. H.

    2008-01-01

    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. PMID:18456830

  1. 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.

  2. [Evolution and quality of the diet of women with severe and morbid obesity undergoing gastric bypass].

    PubMed

    Rebolledo, Annabella; Basfi-fer, Karen; Rojas, Pamela; Codoceo, Juana; Inostroza, Jorge; Carrasco, Fernando; Ruz, Manuel

    2009-03-01

    Evolution and quality of the diet of women with severe and morbid obesity undergoing gastric bypass. The objective of this study was to evaluate the changes of dietary intake and quality of the diet in patients undergoing gastric bypass. In forty-four women with severe and morbid obesity it was assessed their nutrient intakes before and 6, 12, and 18 months after gastric bypass by using three-day food records. Vitamin and mineral intakes from supplements were strictly controlled though personalized records. With the exceptions of calcium and vitamin A, energy and nutrient intakes were significantly decreased at 6, 12, and 18 month after bypass compared to the pre-surgery period. Dietary intakes of calcium, iron, zinc, copper, folic acid, vitamin C, and vitamin E were below 100% of adequacy from the 6th month after the surgery and thereafter. This situation is reverted when nutrient intakes supplied by supplements are taken into account. Although a "U" shape trend was observed in the nutrient intakes results during the experimental period, in most cases the differences between the observed values at month 12 and 18 were not significant. In conclusion, these patients had important reductions of their energy and nutrient intakes as result of gastric bypass. Routine supplements may correct this situation, nevertheless, the anatomical alterations inherent to this type of surgery may cause that total nutrient intakes reaching adequacy values slightly above 100%, may not necessarily be able to avoid the development of nutritional deficiencies.

  3. RNA genetics

    SciTech Connect

    Domingo, E. ); Holland, J.J. . Dept. of Biology); Ahlquist, P. . Dept. of Plant Pathology)

    1988-01-01

    This book contains the proceedings on RNA genetics: RNA-directed virus replication Volume 1. Topics covered include: Replication of the poliovirus genome; Influenza viral RNA transcription and replication; and Relication of the reoviridal: Information derived from gene cloning and expression.

  4. 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)

  5. Genetic influences in common respiratory disorders.

    PubMed

    Workman, M Linda; Winkelman, Chris

    2008-06-01

    Respiratory disorders are common problems for adults and children in North America and generally represent the outcome of gene-environment interactions. Some problems are considered genetic in origin, such as cystic fibrosis, and others are considered environmental in origin, such as respiratory infections. Emerging information indicates that even genetic-based disorders are influenced by the environment and that environmental-based disorders are modified by personal genetic factors in individual physiologic responses. An understanding of an individual's personal risk factors for disease or health problem development can allow health care professionals to tailor health promotion strategies and treatment plans with appropriate environmental manipulation. This article explores the genetic influences that may affect the individual's physiologic responses and the consequences of environmental stimuli.

  6. 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.

  7. 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.

  8. Statistical Enrichment of Epigenetic States Around Triplet Repeats that Can Undergo Expansions

    PubMed Central

    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

  9. Overexpression of csc1-1. A plausible strategy to obtain wine yeast strains undergoing accelerated autolysis.

    PubMed

    Cebollero, Eduardo; Martinez-Rodriguez, Adolfo; Carrascosa, Alfonso V; Gonzalez, Ramon

    2005-05-01

    The potential of several alternative genetic engineering based strategies in order to accelerate Saccharomyces cerevisiae autolysis for wine production has been studied. Both constitutively autophagic and defective in autophagy strains have been studied. Although both alternatives lead to impaired survival under starvation conditions, only constitutively autophagic strains, carrying a multicopy plasmid with the csc1-1 allele under the control of the TDH3 promoter, undergo accelerated autolysis in the experimental conditions tested. Fermentation performance is impaired in the autolytic strains, but industrial strains carrying the above-mentioned construction are still able to complete second fermentation of a model base wine. We suggest the construction of industrial yeasts showing a constitutive autophagic phenotype as a way to obtain second fermentation yeast strains undergoing accelerated autolysis.

  10. 77 FR 27064 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-05-08

    ... behaviors, health status, and health care utilization of Lesbian, Gay, Bisexual, and Transgender (LGBT... estimates of sexual minorities (Lesbian, Gay, Bisexual or Transgender persons) from this mode...

  11. Personalized Regenerative Medicine.

    PubMed

    Arjmand, Babak; Goodarzi, Parisa; Mohamadi-Jahani, Fereshteh; Falahzadeh, Khadijeh; Larijani, Bagher

    2017-03-01

    Personalized medicine as a novel field of medicine refers to the prescription of specific therapeutics procedure for an individual. This approach has established based on pharmacogenetic and pharmacogenomic information and data. The terms precision and personalized medicines are sometimes applied interchangeably. However, there has been a shift from "personalized medicine" towards "precision medicine". Although personalized medicine emerged from pharmacogenetics, nowadays it covers many fields of healthcare. Accordingly, regenerative medicine and cellular therapy as the new fields of medicine use cell-based products in order to develop personalized treatments. Different sources of stem cells including mesenchymal stem cells, embryonic stem cells and induced pluripotent stem cells (iPSCs) have been considered in targeted therapies which could give many advantages. iPSCs as the novel and individual pluripotent stem cells have been introduced as the appropriate candidates for personalized cell therapies. Cellular therapies can provide a personalized approach. Because of person-to-person and population differences in the result of stem cell therapy, individualized cellular therapy must be adjusted according to the patient specific profile, in order to achieve best therapeutic results and outcomes. Several factors should be considered to achieve personalized stem cells therapy such as, recipient factors, donor factors, and the overall body environment in which the stem cells could be active and functional. In addition to these factors, the source of stem cells must be carefully chosen based on functional and physical criteria that lead to optimal outcomes.

  12. 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.

  13. 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.

  14. 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

  15. Teaching Genetic Counseling Skills: Incorporating a Genetic Counseling Adaptation Continuum Model to Address Psychosocial Complexity.

    PubMed

    Shugar, Andrea

    2016-11-28

    Genetic counselors are trained health care professionals who effectively integrate both psychosocial counseling and information-giving into their practice. Preparing genetic counseling students for clinical practice is a challenging task, particularly when helping them develop effective and active counseling skills. Resistance to incorporating these skills may stem from decreased confidence, fear of causing harm or a lack of clarity of psycho-social goals. The author reflects on the personal challenges experienced in teaching genetic counselling students to work with psychological and social complexity, and proposes a Genetic Counseling Adaptation Continuum model and methodology to guide students in the use of advanced counseling skills.

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

    PubMed

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

    2008-09-01

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

  17. 77 FR 17063 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-03-23

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction... services, and HIV-related behaviors and clinical outcomes. This project collects data on behaviors and... current levels of behaviors that may facilitate HIV transmission: Sexual and drug use behaviors;...

  18. 76 FR 14020 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-03-15

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction... of Health and Human Services (DHHS), acting through NCHS, shall collect statistics on the extent and... large sampling frame of the ongoing National Immunization Survey (NIS) and Computer Assisted...

  19. 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

  20. 75 FR 3737 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-01-22

    ... includes heart disease, myocardial infarction, and stroke, is the leading cause of death for women in the... 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...

  1. 78 FR 53461 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-08-29

    ... Transmitted Disease (STD) and Human immunodeficiency virus (HIV) prevention training, training assistance, and... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction... grantees to use a single instrument when partnering with other Health and Human Services (HHS)...

  2. [Access to somatic care for patients undergoing psychiatric treatment].

    PubMed

    Cabaret, Wanda

    2010-01-01

    In France, there is no across-the-board formal connection between psychiatric and somatic treatment and the somatic care of patients undergoing psychiatric treatment remains very heterogeneous and inadequate. Despite some attempts at providing structure, it is the place of the physician which must be examined and optimised.

  3. 76 FR 7216 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-02-09

    ... 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...), Centers for Disease Control and Prevention (CDC). Background and Brief Description The CDC is...

  4. 75 FR 74054 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-11-30

    ... 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... Environmental Health (NCEH), Centers for Disease Control and Prevention (CDC). Background and Brief...

  5. 76 FR 58517 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-09-21

    ... 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... Environmental Health (NCEH), Centers for Disease Control and Prevention (CDC). Background and Brief...

  6. 77 FR 61415 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-10-09

    ... 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... (NVEAIS)--New--National Center for Environmental Health (NCEH), Centers for Disease Control and...

  7. 78 FR 52532 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-08-23

    ... Chronic Disease Prevention and Health Promotion (NCCDPHP), Centers for Disease Control and Prevention (CDC... across the U.S., CDC's National Center on Chronic Disease Prevention and Health Promotion proposes to... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork...

  8. 76 FR 51984 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-08-19

    ... 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...

  9. 78 FR 25741 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-05-02

    ... 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... memory, constantly being on-guard, disturbed sleep, high irritability); and avoidance of people...

  10. 78 FR 23767 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-04-22

    ... 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... (ACHS-II)--New--Agency for Toxic Substances and Disease Registry (ATSDR), Department of Health and...

  11. 78 FR 65652 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-11-01

    ... 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... Statistics (NCHS), Centers for Disease Control and Prevention (CDC). Background and Brief Description...

  12. 78 FR 23766 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-04-22

    ... 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... (ACHS-II)--New--Agency for Toxic Substances and Disease Registry (ATSDR), Department of Health and...

  13. 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...

  14. 75 FR 8955 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-02-26

    ... 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... Screening for Intimate Partner Violence--Revision--National Center for Injury Prevention and Control...

  15. 76 FR 14021 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-03-15

    ... 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... Control and Prevention, (CDC). Background and Brief Description Steady increases in the rate and...

  16. 77 FR 61407 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-10-09

    ... 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... Paperwork Reduction Act (44 U.S.C. Chapter 35). To request a copy of these requests, call the CDC...

  17. 77 FR 6803 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-02-09

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction....C. 242k), as amended, authorizes that the Secretary of Health and Human Services (DHHS), acting... groups such as the American Heart Association; schools of public health; private businesses;...

  18. 75 FR 65489 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-10-25

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction..., which is the measurement of environmental chemicals in human tissues and fluids, to assess such exposure... lag behind new biomonitoring data. The health effects on humans are, therefore, often uncertain...

  19. 76 FR 78262 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-12-16

    ... purpose of the proposed information collection is to monitor behaviors related to Human Immunodeficiency... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction... internet-using MSM are to (a) describe the prevalence of and trends in risk behaviors; (b) describe...

  20. 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... Health and Human Services (HHS) was directed to establish and implement procedures for...

  1. 76 FR 10907 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-02-28

    ... 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... Prevention Management Information System--Revision--National Center for Chronic Disease Prevention and...

  2. 75 FR 41206 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-07-15

    ... 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... Chronic Disease Prevention and Control Programs--New--National Center for Chronic Disease Prevention...

  3. 76 FR 32212 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-06-03

    ... 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... Prevention and Health Promotion (NCDDPHP), Centers for Disease Control and Prevention (CDC). Background...

  4. 75 FR 18503 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2010-04-12

    ... 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... Community Health, National Center for Chronic Disease Prevention and Health Promotion (NCCDPHP), Centers...

  5. 78 FR 17409 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-03-21

    ... 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... Center for Chronic Disease Prevention and Health Promotion (NCCDPHP), Centers for Disease Control...

  6. 76 FR 5378 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2011-01-31

    ... 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... Native Communities--New--National Center for Chronic Disease Prevention and Health Promotion...

  7. 78 FR 44566 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-07-24

    ... 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... Assessment and Pilot Training Evaluation--New--National Center for Chronic Disease Prevention and...

  8. 77 FR 40361 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2012-07-09

    ... 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... rates achieved by each ART program, the identity of each embryo laboratory used by such ART program,...

  9. 78 FR 40150 - Agency Forms Undergoing Paperwork Reduction Act Review

    Federal Register 2010, 2011, 2012, 2013, 2014

    2013-07-03

    ... HUMAN SERVICES Centers for Disease Control and Prevention Agency Forms Undergoing Paperwork Reduction... days of this notice. Proposed Project Preventive Health and Health Services Block Grant (OMB No. 0920... Preventive Health and Health Services (PHHS) Block Grant program was established to provide awardees with...

  10. Genetic advances uncover mechanisms of chemotherapy-induced peripheral neuropathy.

    PubMed

    Chua, K C; Kroetz, D L

    2017-04-01

    Chemotherapy-induced peripheral neuropathy (CIPN) is a common dose-limiting toxicity experienced in 30-40% of patients undergoing treatment with various chemotherapeutics, including taxanes, vinca alkaloids, epothilones, proteasome inhibitors, and thalidomide. Importantly, CIPN significantly affects a patient's quality of life. Recent genetic association studies are enhancing our understanding of CIPN pathophysiology and serve as a foundation for identification of genetic biomarkers to predict toxicity risk and for the development of novel strategies for prevention and treatment.

  11. Advances in personalized cancer immunotherapy.

    PubMed

    Kakimi, Kazuhiro; Karasaki, Takahiro; Matsushita, Hirokazu; Sugie, Tomoharu

    2017-01-01

    There are currently three major approaches to T cell-based cancer immunotherapy, namely, active vaccination, adoptive cell transfer therapy and immune checkpoint blockade. Recently, this latter approach has demonstrated remarkable clinical benefits, putting cancer immunotherapy under the spotlight. Better understanding of the dynamics of anti-tumor immune responses (the "Cancer-Immunity Cycle") is crucial for the further development of this form of treatment. Tumors employ multiple strategies to escape from anti-tumor immunity, some of which result from the selection of cancer cells with immunosuppressive activity by the process of cancer immunoediting. Apart from this selective process, anti-tumor immune responses can also be inhibited in multiple different ways which vary from patient to patient. This implies that cancer immunotherapy must be personalized to (1) identify the rate-limiting steps in any given patient, (2) identify and combine strategies to overcome these hurdles, and (3) proceed with the next round of the "Cancer-Immunity Cycle". Cancer cells have genetic alterations which can provide the immune system with targets by which to recognize and eradicate the tumor. Mutated proteins expressed exclusively in cancer cells and recognizable by the immune system are known as neoantigens. The development of next-generation sequencing technology has made it possible to determine the genetic landscape of human cancer and facilitated the utilization of genomic information to identify such candidate neoantigens in individual cancers. Future immunotherapies will need to be personalized in terms of the identification of both patient-specific immunosuppressive mechanisms and target neoantigens.

  12. Breast Cancer, BRCA Mutations, and Attitudes Regarding Pregnancy and Preimplantation Genetic Diagnosis

    PubMed Central

    Woodson, Ashley H.; Muse, Kimberly I.; Lin, Heather; Jackson, Michelle; Mattair, Danielle N.; Schover, Leslie; Woodard, Terri; McKenzie, Laurie; Theriault, Richard L.; Hortobágyi, Gabriel N.; Arun, Banu; Peterson, Susan K.; Profato, Jessica

    2014-01-01

    Background. Women with premenopausal breast cancer may face treatment-related infertility and have a higher likelihood of a BRCA mutation, which may affect their attitudes toward future childbearing. Methods. Premenopausal women were invited to participate in a questionnaire study administered before and after BRCA genetic testing. We used the Impact of Event Scale (IES) to evaluate the pre- and post-testing impact of cancer or carrying a BRCA mutation on attitudes toward future childbearing. The likelihood of pursuing prenatal diagnosis (PND) or preimplantation genetic diagnosis (PGD) was also assessed in this setting. Univariate analyses determined factors contributing to attitudes toward future childbearing and likelihood of PND or PGD. Results. One hundred forty-eight pretesting and 114 post-testing questionnaires were completed. Women with a personal history of breast cancer had less change in IES than those with no history of breast cancer (p = .003). The 18 BRCA-positive women had a greater change in IES than the BRCA-negative women (p = .005). After testing, 31% and 24% of women would use PND and PGD, respectively. BRCA results did not significantly affect attitudes toward PND/PGD. Conclusion. BRCA results and history of breast cancer affect the psychological impact on future childbearing. Intentions to undergo PND or PGD do not appear to change after disclosure of BRCA results. Additional counseling for patients who have undergone BRCA testing may be warranted to educate patients about available fertility preservation options. PMID:24951607

  13. Cerebellum and personality traits.

    PubMed

    Petrosini, Laura; Cutuli, Debora; Picerni, Eleonora; Laricchiuta, Daniela

    2015-02-01

    Personality traits are multidimensional traits comprising cognitive, emotional, and behavioral characteristics, and a wide array of cerebral structures mediate individual variability. Differences in personality traits covary with brain morphometry in specific brain regions. A cerebellar role in emotional and affective processing and on personality characteristics has been suggested. In a large sample of healthy subjects of both sexes and differently aged, the macro- and micro-structural variations of the cerebellum were correlated with the scores obtained in the Temperament and Character Inventory (TCI) by Cloninger. Cerebellar volumes were associated positively with Novelty Seeking scores and negatively with Harm Avoidance scores. Given the cerebellar contribution in personality traits and emotional processing, we investigated the cerebellar involvement even in alexithymia, construct of personality characterized by impairment in cognitive, emotional, and affective processing. Interestingly, the subjects with high alexithymic traits had larger volumes in the bilateral Crus 1. The cerebellar substrate for some personality dimensions extends the relationship between personality and brain areas to a structure up to now thought to be involved mainly in motor and cognitive functions, much less in emotional processes and even less in personality individual differences. The enlarged volumes of Crus 1 in novelty seekers and alexithymics support the tendency to action featuring both personality constructs. In fact, Novelty Seeking and alexithymia are rooted in behavior and inescapably have a strong action component, resulting in stronger responses in the structures more focused on action and embodiment, as the cerebellum is.

  14. Personal identification by eyes.

    PubMed

    Marinović, Dunja; Njirić, Sanja; Coklo, Miran; Muzić, Vedrana

    2011-09-01

    Identification of persons through the eyes is in the field of biometrical science. Many security systems are based on biometric methods of personal identification, to determine whether a person is presenting itself truly. The human eye contains an extremely large number of individual characteristics that make it particularly suitable for the process of identifying a person. Today, the eye is considered to be one of the most reliable body parts for human identification. Systems using iris recognition are among the most secure biometric systems.

  15. Recent advances in personalized lung cancer medicine

    PubMed Central

    Okimoto, Ross A; Bivona, Trever G

    2014-01-01

    The identification of molecular subtypes of non-small-cell lung cancer has transformed the clinical management of this disease. This is best exemplified by the clinical success of targeting the EGFR or ALK with tyrosine kinase inhibitors in the front-line setting. Our ability to further improve patient outcomes with biomarker-based targeted therapies will depend on a more comprehensive genetic platform that can rationally interrogate the cancer genome of an individual patient. Novel technologies, including multiplex genotyping and next-generation sequencing are rapidly evolving and will soon challenge the oncologist with a wealth of genetic information for each patient. Although there are many barriers to overcome, the integration of these genetic platforms into clinical care has the potential to transform the management of lung cancer through improved molecular categorization, patient stratification, and drug development, thereby, improving clinical outcomes through personalized lung cancer medicine. PMID:25506379

  16. Mitochondrial genetics

    PubMed Central

    Chinnery, Patrick Francis; Hudson, Gavin

    2013-01-01

    Introduction In the last 10 years the field of mitochondrial genetics has widened, shifting the focus from rare sporadic, metabolic disease to the effects of mitochondrial DNA (mtDNA) variation in a growing spectrum of human disease. The aim of this review is to guide the reader through some key concepts regarding mitochondria before introducing both classic and emerging mitochondrial disorders. Sources of data In this article, a review of the current mitochondrial genetics literature was conducted using PubMed (http://www.ncbi.nlm.nih.gov/pubmed/). In addition, this review makes use of a growing number of publically available databases including MITOMAP, a human mitochondrial genome database (www.mitomap.org), the Human DNA polymerase Gamma Mutation Database (http://tools.niehs.nih.gov/polg/) and PhyloTree.org (www.phylotree.org), a repository of global mtDNA variation. Areas of agreement The disruption in cellular energy, resulting from defects in mtDNA or defects in the nuclear-encoded genes responsible for mitochondrial maintenance, manifests in a growing number of human diseases. Areas of controversy The exact mechanisms which govern the inheritance of mtDNA are hotly debated. Growing points Although still in the early stages, the development of in vitro genetic manipulation could see an end to the inheritance of the most severe mtDNA disease. PMID:23704099

  17. Personalized medicine, genomics, and pharmacogenomics: a primer for nurses.

    PubMed

    Blix, Andrew

    2014-08-01

    Personalized medicine is the study of patients' unique environmental influences as well as the totality of their genetic code-their genome-to tailor personalized risk assessments, diagnoses, prognoses, and treatments. The study of how patients' genomes affect responses to medications, or pharmacogenomics, is a related field. Personalized medicine and genomics are particularly relevant in oncology because of the genetic basis of cancer. Nurses need to understand related issues such as the role of genetic and genomic counseling, the ethical and legal questions surrounding genomics, and the growing direct-to-consumer genomics industry. As genomics research is incorporated into health care, nurses need to understand the technology to provide advocacy and education for patients and their families.

  18. Genetic Testing (For Parents)

    MedlinePlus

    ... Old Feeding Your 1- to 2-Year-Old Genetic Testing KidsHealth > For Parents > Genetic Testing Print A ... blood, skin, bone, or other tissue is needed. Genetic Testing During Pregnancy For genetic testing before birth, ...

  19. Cancer Genetics Services Directory

    MedlinePlus

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

  20. Personal Visualization and Personal Visual Analytics.

    PubMed

    Huang, Dandan; Tory, Melanie; Aseniero, Bon Adriel; Bartram, Lyn; Bateman, Scott; Carpendale, Sheelagh; Tang, Anthony; Woodbury, Robert

    2015-03-01

    Data surrounds each and every one of us in our daily lives, ranging from exercise logs, to archives of our interactions with others on social media, to online resources pertaining to our hobbies. There is enormous potential for us to use these data to understand ourselves better and make positive changes in our lives. Visualization (Vis) and visual analytics (VA) offer substantial opportunities to help individuals gain insights about themselves, their communities and their interests; however, designing tools to support data analysis in non-professional life brings a unique set of research and design challenges. We investigate the requirements and research directions required to take full advantage of Vis and VA in a personal context. We develop a taxonomy of design dimensions to provide a coherent vocabulary for discussing personal visualization and personal visual analytics. By identifying and exploring clusters in the design space, we discuss challenges and share perspectives on future research. This work brings together research that was previously scattered across disciplines. Our goal is to call research attention to this space and engage researchers to explore the enabling techniques and technology that will support people to better understand data relevant to their personal lives, interests, and needs.

  1. Polyp detection rate and pathological features in patients undergoing a comprehensive colonoscopy screening

    PubMed Central

    Asadzadeh Aghdaei, Hamid; Nazemalhosseini Mojarad, Ehsan; Ashtari, Sara; Pourhoseingholi, Mohmad Amin; Chaleshi, Vahid; Anaraki, Fakhrosadat; Haghazali, Mehrdad; Zali, Mohammad Reza

    2017-01-01

    AIM To identify the prevalence, and clinical and pathologic characteristic of colonic polyps among Iranian patients undergoing a comprehensive colonoscopy, and determine the polyp detection rate (PDR) and adenoma detection rate (ADR). METHODS In this cross-sectional study, demographics and epidemiologic characteristics of 531 persons who underwent colonoscopies between 2014 and 2015 at Mehrad gastrointestinal clinic were determined. Demographics, indication for colonoscopy, colonoscopy findings, number of polyps, and histopathological characteristics of the polyps were examined for each person. RESULTS Our sample included 295 (55.6%) women and 236 (44.4%) men, with a mean age of 50.25 ± 14.89 years. Overall PDR was 23.5% (125/531). ADR and colorectal cancer detection rate in this study were 12.8% and 1.5%, respectively. Polyps were detected more significantly frequently in men than in women (52.8% vs 47.2%, P < 0.05). Polyps can be seen in most patients after the age of 50. The average age of patients with cancer was significantly higher than that of patients with polyps (61.3 years vs 56.4 years, P < 0.05). The majority of the polyps were adenomatous. More than 50% of the polyps were found in the rectosigmoid part of the colon. CONCLUSION The prevalence of polyps and adenomas in this study is less than that reported in the Western populations. In our patients, distal colon is more susceptible to developing polyps and cancer than proximal colon. PMID:28251034

  2. [The nature of personality: a co-evolutionary perspective].

    PubMed

    Asendorpf, J B

    1996-01-01

    Personality psychologists' attempts to explain human diversity have traditionally focused upon processes of person-situation interaction, and genotype-environment interaction. The great variability of genotypes and environments within cultures has remained unexplained in these efforts. Which processes may be responsible for the genetic and environmental variability within cultures? Answers to this question are sought in processes of genetic-cultural coevolution: mutation and sexual recombination of genes, innovation and synthesis of memes (units of cultural transmission), genotype-->environment and meme-->environment effects, and frequency-dependent natural and cultural selection. This twofold evolutionary explanation of personality differences within cultures suggests that a solid foundation of personality psychology requires bridging biology and cultural science.

  3. Personalized medicine and stroke prevention: where are we?

    PubMed

    Kim, Joosup; Thrift, Amanda G; Nelson, Mark R; Bladin, Christopher F; Cadilhac, Dominique A

    2015-01-01

    There are many recommended pharmacological and non-pharmacological therapies for the prevention of stroke, and an ongoing challenge is to improve their uptake. Personalized medicine is seen as a possible solution to this challenge. Although the use of genetic information to guide health care could be considered as the apex of personalized medicine, genetics is not yet routinely used to guide prevention of stroke. Currently personalized aspects of prevention of stroke include tailoring interventions based on global risk, the utilization of individualized management plans within a model of organized care, and patient education. In this review we discuss the progress made in these aspects of prevention of stroke and present a case study to illustrate the issues faced by health care providers and patients with stroke that could be overcome with a personalized approach to the prevention of stroke.

  4. Genetic predictive testing and private insurances.

    PubMed

    Abbing, H D

    1991-08-01

    Genetic information is a potential tool for selection of job applicants and of candidates for insurance. Social implications of genetic information may represent a threshold for the access to health care facilities. Some of the issues related to the use of predictive genetic information by private life and health insurance companies are discussed. They include the potential threat for the privacy of the individual and his relatives, the pressure to undergo genetic testing and the social consequences of the use of genetic information by private insurance companies. The justified financial interests of insurance companies and the interests of the individual to have his privacy protected and to be able to partake in social attainments have to be brought into balance. A ban on genetic testing in connection with access to insurances and a limitation to the use of existing genetic information have been suggested by the Dutch Health Council. This approach to the problem should be adopted throughout the European Communities, so that medical progress does not turn out to be against the interests of the consumer.

  5. Personal Virtual Libraries

    ERIC Educational Resources Information Center

    Pappas, Marjorie L.

    2004-01-01

    Virtual libraries are becoming more and more common. Most states have a virtual library. A growing number of public libraries have a virtual presence on the Web. Virtual libraries are a growing addition to school library media collections. The next logical step would be personal virtual libraries. A personal virtual library (PVL) is a collection…

  6. Personality Theory and TESOL

    ERIC Educational Resources Information Center

    Al Shalabi, M. Fadi; Salmani Nodoushan, Mohammad Ali

    2009-01-01

    In this paper, it is argued, based on evidence from psychological literature, that there are three major approaches to the study of personality, namely (1) situationism, (2) interactionism, and (3) constructivism. It is also noticed that these approaches have resulted in the emergence of three major types of personality theories: (i) type…

  7. Personality Theory and TESOL

    ERIC Educational Resources Information Center

    Al Shalabi, M. Fadi; Nodoushan, Mohammad Ali Salmani

    2009-01-01

    In this paper, it is argued, based on evidence from psychological literature, that there are three major approaches to the study of personality, namely (a) situationism, (b) interactionism, and (c) constructivism. It is also noticed that these approached have resulted in the emergence of three major types of personality theories: (1) type…

  8. Evaluating Personalized Risk Messages.

    ERIC Educational Resources Information Center

    Weinstein, Neil D.; And Others

    1992-01-01

    An experiment with 766 homeowners compared 3 strategies for delivering radon test results to homeowners. Small improvements in consumer satisfaction were found for personalized messages (a telephone call or personal letter) over a form letter. No detectable improvement was found in recall of advice or compliance for any strategy. (SLD)

  9. Personal Container Artists.

    ERIC Educational Resources Information Center

    Szekely, George

    2002-01-01

    Focuses on the study of personal containers and their uses in art creation for children. States that children are fascinated by boxes and containers. Provides examples of personal containers, such as lunch boxes, pencil cases, purses and valets, and school bags. (CMK)

  10. The Technological Personality

    ERIC Educational Resources Information Center

    Stivers, Richard

    2004-01-01

    If technology is the single most important factor in explaining the organization of modern societies, it is likewise the key to understanding the modern personality. The technological personality is the psychological counterpart to the technological society.Technology indirectly destroys the basis of a common morality and so leaves human…

  11. Personal Literacy Experience.

    ERIC Educational Resources Information Center

    Knotts, Lester William

    Literacy is inextricably linked to the social context in which literacy is taught, and in which the language is used. Cultural expectations require the use of specific literacies. Who a person is, in terms of a literacy user and a literacy worker are dictated by the culture in which a person chooses to operate. Literacy is not neutral, but an…

  12. Personal Food System Mapping

    ERIC Educational Resources Information Center

    Wilsey, David; Dover, Sally

    2014-01-01

    Personal food system mapping is a practical means to engage community participants and educators in individualized and shared learning about food systems, decisions, and behaviors. Moreover, it is a useful approach for introducing the food system concept, which is somewhat abstract. We developed the approach to capture diversity of personal food…

  13. Teacher Attitudes and Personality

    ERIC Educational Resources Information Center

    Wakefield, James A., Jr.; And Others

    1975-01-01

    The Minnesota Teacher Attitude Inventory (MTAI), the Edwards Personal Preference Schedule (EPPS), and the Vocational Preference Inventory (VPI) were administered to 183 undergraduate students enrolled in teacher education courses. The MTAI was compared with each of the two personality instruments by canonical analysis. Concludes that teacher's…

  14. The Power of Personality

    PubMed Central

    Roberts, Brent W.; Kuncel, Nathan R.; Shiner, Rebecca; Caspi, Avshalom; Goldberg, Lewis R.

    2015-01-01

    The ability of personality traits to predict important life outcomes has traditionally been questioned because of the putative small effects of personality. In this article, we compare the predictive validity of personality traits with that of socioeconomic status (SES) and cognitive ability to test the relative contribution of personality traits to predictions of three critical outcomes: mortality, divorce, and occupational attainment. Only evidence from prospective longitudinal studies was considered. In addition, an attempt was made to limit the review to studies that controlled for important background factors. Results showed that the magnitude of the effects of personality traits on mortality, divorce, and occupational attainment was indistinguishable from the effects of SES and cognitive ability on these outcomes. These results demonstrate the influence of personality traits on important life outcomes, highlight the need to more routinely incorporate measures of personality into quality of life surveys, and encourage further research about the developmental origins of personality traits and the processes by which these traits influence diverse life outcomes. PMID:26151971

  15. Identifying the CBK Personality.

    ERIC Educational Resources Information Center

    Kodman, Frank

    1984-01-01

    Examined certain personality traits that might distinguish the cold-blooded killer from a normal control group, softcore inmates, hardcore inmates, a random sample of inmates, and assaultive inmates. Found significant differences among incarcerated felons (N=250) and a normal control group in certain personality traits and significant test items.…

  16. Regulation of Genetic Tests

    MedlinePlus

    ... En Español: Regulación de pruebas genéticas Regulation of Genetic Tests Overview of Genetic Testing Introduction to Genetic ... Statements Congressional Activity Genetic Testing Resources Overview of Genetic Testing As the science of genomics advances, genetic ...

  17. Personality in Bonobos.

    PubMed

    Weiss, Alexander; Staes, Nicky; Pereboom, Jeffrey J M; Inoue-Murayama, Miho; Stevens, Jeroen M G; Eens, Marcel

    2015-09-01

    To better understand human and chimpanzee personality evolution, we obtained trait ratings of personality for 154 captive bonobos (~80% of the U.S. and European population). We found factors that we labeled Assertiveness, Conscientiousness, Openness, Agreeableness, Attentiveness, and Extraversion. The interrater reliabilities and test-retest reliabilities for these factors were comparable to those found in humans and other species. Using orthogonal targeted Procrustes rotations, we compared the bonobo dimensions with those of three samples of captive chimpanzees. Overall congruence coefficients indicated a fair degree of similarity; at the factor level, there was good evidence for Assertiveness, Conscientiousness, Openness, and Agreeableness in the chimpanzee samples; evidence for Attentiveness and Extraversion was poor. These findings suggest that, as expected given their close phylogenetic relationship, bonobo personality structure resembles chimpanzee personality structure in some respects. However, divergent evolution, perhaps as a result of socioecological differences between bonobos and chimpanzees, also appears to have shaped personality structure in these species.

  18. The big five personality traits: psychological entities or statistical constructs?

    PubMed

    Franić, Sanja; Borsboom, Denny; Dolan, Conor V; Boomsma, Dorret I

    2014-11-01

    The present study employed multivariate genetic item-level analyses to examine the ontology and the genetic and environmental etiology of the Big Five personality dimensions, as measured by the NEO Five Factor Inventory (NEO-FFI) [Costa and McCrae, Revised NEO personality inventory (NEO PI-R) and NEO five-factor inventory (NEO-FFI) professional manual, 1992; Hoekstra et al., NEO personality questionnaires NEO-PI-R, NEO-FFI: manual, 1996]. Common and independent pathway model comparison was used to test whether the five personality dimensions fully mediate the genetic and environmental effects on the items, as would be expected under the realist interpretation of the Big Five. In addition, the dimensionalities of the latent genetic and environmental structures were examined. Item scores of a population-based sample of 7,900 adult twins (including 2,805 complete twin pairs; 1,528 MZ and 1,277 DZ) on the Dutch version of the NEO-FFI were analyzed. Although both the genetic and the environmental covariance components display a 5-factor structure, applications of common and independent pathway modeling showed that they do not comply with the collinearity constraints entailed in the common pathway model. Implications for the substantive interpretation of the Big Five are discussed.

  19. Personalized medicine: is it a pharmacogenetic mirage?

    PubMed

    Shah, Rashmi R; Shah, Devron R

    2012-10-01

    The notion of personalized medicine has developed from the application of the discipline of pharmacogenetics to clinical medicine. Although the clinical relevance of genetically-determined inter-individual differences in pharmacokinetics is poorly understood, and the genotype-phenotype association data on clinical outcomes often inconsistent, officially approved drug labels frequently include pharmacogenetic information concerning the safety and/or efficacy of a number of drugs and refer to the availability of the pharmacogenetic test concerned. Regulatory authorities differ in their approach to these issues. Evidence emerging subsequently has generally revealed the pharmacogenetic information included in the label to be premature. Revised drugs labels, together with a flurry of other collateral activities, have raised public expectations of personalized medicine, promoted as 'the right drug at the right dose the first time.' These expectations place the prescribing physician in a dilemma and at risk of litigation, especially when evidence-based information on genotype-related dosing schedules is to all intent and purposes non-existent and guidelines, intended to improve the clinical utility of available pharmacogenetic information or tests, distance themselves from any responsibility. Lack of efficacy or an adverse drug reaction is frequently related to non-genetic factors. Phenoconversion, arising from drug interactions, poses another often neglected challenge to any potential success of personalized medicine by mimicking genetically-determined enzyme deficiency. A more realistic promotion of personalized medicine should acknowledge current limitations and emphasize that pharmacogenetic testing can only improve the likelihood of diminishing a specific toxic effect or increasing the likelihood of a beneficial effect and that application of pharmacogenetics to clinical medicine cannot adequately predict drug response in individual patients.

  20. Parental anxiety and concern for children undergoing dermatological surgery.

    PubMed

    Hoetzenecker, Wolfram; Guenova, Emmanuella; Krug, Markus; Goetz, Angelika; Amarov, Boyko; Haefner, Hans-Martin; Breuninger, Helmut

    2014-10-01

    Parents experience anxiety and concern about their children's anesthesia and surgeries, which can adversely affect the children's outcomes. Therefore, it is important to identify the factors that influence parental fear. Because dermatological surgery is often performed in young children, we examined how a child's age and the size of the dermatological surgical area affected the levels of parental anxiety and concern. The parents' levels of anxiety and concern were accessed by parental self-reports in a prospective observational study of 106 children undergoing dermatological surgery. Correlation analysis showed that the level of parental anxiety decreased with the child's age. In contrast, the level of parental anxiety increased with the size of the surgical area. Our findings thus indicate that parents whose children undergo large-sized surgeries at a young age are at high risk. This result should be considered when performing dermatological surgery in children.