Use Of Genetic Information Research Articles

Implementation of inpatient models of pharmacogenetics programs.

The operational elements essential for establishing an inpatient pharmacogenetic service are reviewed, and the role of the pharmacist in the provision of genotype-guided drug therapy in pharmacogenetics programs at three institutions is highlighted. Pharmacists are well positioned to assume important roles in facilitating the clinical use of genetic information to optimize drug therapy given their expertise in clinical pharmacology and therapeutics. Pharmacists have assumed important roles in implementing inpatient pharmacogenetics programs. This includes programs designed to incorporate genetic test results to optimize antiplatelet drug selection after percutaneous coronary intervention and personalize warfarin dosing. Pharmacist involvement occurs on many levels, including championing and leading pharmacogenetics implementation efforts, establishing clinical processes to support genotype-guided therapy, assisting the clinical staff with interpreting genetic test results and applying them to prescribing decisions, and educating other healthcare providers and patients on genomic medicine. The three inpatient pharmacogenetics programs described use reactive versus preemptive genotyping, the most feasible approach under the current third-party payment structure. All three sites also follow Clinical Pharmacogenetics Implementation Consortium guidelines for drug therapy recommendations based on genetic test results. With the clinical emergence of pharmacogenetics into the inpatient setting, it is important that pharmacists caring for hospitalized patients are well prepared to serve as experts in interpreting and applying genetic test results to guide drug therapy decisions. Since genetic test results may not be available until after patient discharge, pharmacists practicing in the ambulatory care setting should also be prepared to assist with genotype-guided drug therapy as part of transitions in care.

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine

Accurate interpretation of DNA sequence variation is a prerequisite for implementing personalized medicine. Discrepancies in interpretation between testing laboratories impede the effective use of genetic test results in clinical medicine. To better understand the underpinnings of these discrepancies, we quantified differences in variant classification internally over time and those between our diagnostic laboratory and other laboratories and resources. We assessed the factors that contribute to these discrepancies and those that facilitate their resolution. Our process resolved 72% of nearly 300 discrepancies between pairs of laboratories to within a one-step classification difference and identified key sources of data that facilitate changes in variant interpretation. The identification and harmonization of variant discrepancies will maximize the clinical use of genetic information; these processes will be fostered by the accumulation of additional population data as well as the sharing of data between diagnostic laboratories.

Role of pharmacogenetics in public health and clinical health care: a SWOT analysis.

Pharmacogenomics has been lauded as an important innovation in clinical medicine as a result of advances in genomic science. As one of the cornerstones in precision medicine, the vision to determine the right medication in the right dosage for the right treatment with the use of genetic information has not exactly materialised, and few genetic tests have been implemented as the standard of care in health systems worldwide. Here we review the findings from a SWOT analysis to examine the strengths, weaknesses, opportunities and threats around the role of pharmacogenetics in public health and clinical health care, at the micro, meso and macro levels corresponding to the perspectives of the individuals (scientists, patients and physicians), the health-care institutions and the health systems, respectively.

Marginal role for 53 common genetic variants in cardiovascular disease prediction

ObjectiveWe investigated discrimination and calibration of cardiovascular disease (CVD) risk scores when genotypic was added to phenotypic information. The potential of genetic information for those at intermediate risk by a...

BRCA1 and BRCA2 Mutation Testing in Young Women With Breast Cancer.

BRCA testing is recommended for young women diagnosed as having breast cancer, but little is known about decisions surrounding testing and how results may influence treatment decisions in young patients. To describe the use of BRCA testing and to evaluate how concerns about genetic risk and use of genetic information affect subsequent treatment decisions in young women with breast cancer. Cross-sectional analysis of data collected following the opening of the study to accrual from October 10, 2006, through December 31, 2014, as part of the Helping Ourselves, Helping Others: Young Women's Breast Cancer Study, an ongoing prospective cohort study. Study participants included 897 women aged 40 years and younger at breast cancer diagnosis from 11 academic and community medical centers. Frequency and trends in the use of BRCA testing and how genetic information is used to make treatment decisions among women who test positive vs negative for a BRCA mutation. A total of 780 (87.0%) of 897 women reported BRCA testing by 1 year after breast cancer diagnosis (mean age at diagnosis, 35.3 vs 36.9 years for untested women; P < .001), with the frequency of testing increasing among women diagnosed from August 1, 2006, through December 31, 2013. Of 39 women who were diagnosed as having breast cancer in 2006, 30 (76.9%) reported testing. In 2007, a slightly lower percentage of women (87 of 124 [70.2%]) reported testing; however, the proportion tested increased each subsequent year, with 141 (96.6%) of 146 and 123 (95.3%) of 129 women diagnosed as having breast cancer in 2012 and 2013, respectively, reporting BRCA testing (P < .001). Among untested women, 37 (31.6%) of 117 did not report discussion of the possibility that they might have a mutation with a physician and/or genetic counselor, and 43 (36.8%) of 117 were thinking of testing in the future. A total of 248 (29.8%) of 831 women said that knowledge or concern about genetic risk influenced treatment decisions; among these women, 76 (86.4%) of 88 mutation carriers and 82 (51.2%) of 160 noncarriers chose bilateral mastectomy (P < .001). Fewer women reported that systemic treatment decisions were influenced by genetic risk concern. Rates of BRCA1 and BRCA2 mutation testing are increasing in young women with breast cancer. Given that knowledge and concern about genetic risk influence surgical decisions and may affect systemic therapy trial eligibility, all young women with breast cancer should be counseled and offered genetic testing, consistent with the National Comprehensive Cancer Network guidelines.

DNA Testing for Family Reunification in Canada: Points to Consider

Countries have adopted different laws, policies, and practices that allow immigration officers to request in certain cases DNA tests to confirm biological relationships in the context of family reunification. In Canada, Citizenship and Immigration Canada has adopted a policy of suggesting DNA testing only as a last resort in cases where no documentary evidence has been submitted or where the evidence provided is deemed unsatisfactory. However, in practice, there have been concerns on the increasing use of DNA tests in family reunification processes of nationals from certain regions including Africa, Asia, and Latin America. Moreover, the Immigration and Refugee Protection Regulations (IRPR) presents a biological definition of family as a determinant of parenthood in the context of family reunification that is inconsistent with the psychosocial definition used in provincial family laws. Although there are cases that can justify the request for DNA tests, there are also significant social, legal, and ethical issues, including discrimination and unfair practices, raised by this increasing use of genetic information in immigration. This policy brief identifies points to consider for policymakers regarding the use of DNA testing in Canadian family reunification procedures. These include (1) the need to refine the policy of “using DNA testing as a last resort” and its implementation, (2) the need to modify the definition of “dependent child” under the IRPR to reflect the intrinsic reality of psychosocial family ties, and (3) the importance of conducting more research on the use of DNA testing in other immigration contexts.

RELATIONSHIPS AMONG TURKISH PRE-SERVICE SCIENCE TEACHERS’ GENETICS LITERACY LEVELS AND THEIR ATTITUDES TOWARDS ISSUES IN GENETICS LITERACY

The importance of genetically literate individuals who can understand and join debates about genetics related issues, including gene therapy or cloning has been acknowledged by societies. With this respect, raising genetically literate individuals has become more prominent. Teachers’ knowledge in genetics literacy and their attitudes towards issues in genetics literacy influence their teaching practices. As a wide range of variables effect teachers’ genetics literacy levels and attitudes, this study examined how a set of variables including pre-service science teachers’ self-perceived interest, knowledge and importance of genetics, gender, academic achievement, socioeconomic status (household income, employment status and educational level of parents) are related to the their genetics literacy levels and attitudes towards various genetics literacy issues. Data was collected from 355 pre-service science teachers through administration of Genetics Literacy Assessment Inventory and Attitudes towards Issues in Genetics Literacy Scale. Canonical correlation analysis suggested that self-perceived interest and importance in genetics literacy issues, gender and parents’ educational levels were positively associated with participants’ genetics literacy levels, as well as attitudes towards the use of genetic information, gene therapy, and gene therapy applications. On the other hand, self-perceived knowledge, GPA, household income, employment status of parents were not found to be associated. Key words: genetics literacy, pre-service science teachers, attitude, socio-demographic variables.

Sociocultural variation in attitudes toward use of genetic information and participation in genetic research by race in the United States: implications for precision medicine.

Background “Precision medicine” (PM) requires researchers to identify actionable genetic risks and for clinicians to interpret genetic testing results to patients. Whether PM will equally benefit all populations or exacerbate existing disparities is uncertain.Methods We ascertained attitudes toward genetic testing and genetic research by race in the United States using the online Amazon mTurk US workforce (n = 403 White; n = 56 African American (AA)). Generalized linear models were used to test differences in beliefs and preferences by race, adjusting for sociodemographics and prior genetic experience.Results AA were less likely than White to believe that genetic tests should be promoted or made available. Further, AA were less likely to want genetic testing results or to participate in genetic research.Conclusions Important dimensions that underlay PM are not universally accepted by all populations. Without clear attention to concerns, AA communities may not equally benefit from the rapidly-emerging trend in PM-centered research and clinical practice.

Psychomotor delay, dysmorphsim and epilepsy with underlying genetic etiology: A case report of first child with a genetically confirmed diagnosis of Angelman Syndrome on a hospital-based setting in Iraq

In this case report we discuss essential issue to be considered with regard to the clinical genetic testing in the epilepsies. The identification of genes that influence risk for the epilepsies has extremely important implications for both research and clinical practice. In a research context, information obtained may lead to the development of new treatments targeted to specific mechanisms, or even to ways of preventing epileptogenesis. In clinical practice, the use of genetic information can either clarify the diagnosis in people already known or suspected to have epilepsy (diagnostic testing), or to predict onset of epilepsy in people at risk of developing epilepsy because of a family history (predictive testing). This 8-year old girl presented because of rapid regression in the cognitive function and had disturbed consciousness which started few weeks before admission. History of delayed milestones, epilepsy, subtle facial dysmorphology, ataxic gait and happy demeanor collectively raised suspicion of genetic/metabolic disorder. Genetic study discovered a deletion involving the maternally derived chromosome 15q11 region and this deletion is associated with Angelman Syndrome.

Questions Posed by the Use of Genetic Information for Personalized Medicine Achievements and Promises

Personalised medicine (PM) has the potential to increase therapeutic effectiveness, reduce side effects and lower cost. The identification of biomarkers predictive of the clinical response to specific treatments in subsets of patients became reality for a variety of diseases. However, a better understanding of the benefits and limitations needs to be developed at the level of the general public as well as at the level of an individual patient. The upcoming ability to characterize each patient from the genetic point of view in a comprehensive manner is believed to have the potential to transform medicine, thus enabling accurate prognosis as well as a treatment outcome prediction. However, PM holds both promise and cause for concern. Although PM promises that an individual’s genetic information may be increasingly used to prioritize medical decision making, it raises in parallel fears and questions as to whether such use could be inequitable. Thus, there are many thoughts whether the use of individual genetic information in the delivery of health care can be a cause for concern, as it may lead to genetic discrimination and other problems such as with employers and private insurance companies. Finally, the main pitfall of predictive tests for complex disease remains the putative lack of proven medical benefit. A better understanding of the benefits PM will have to be developed at the level of the general public as well as at the level of an individual patient; which will also reassure people that their genetic data is used appropriately to choose therapeutic protocols and drugs.

Genetic Susceptibility to Oxidative Stress and Cardiovascular Disease

Cardiovascular disease continues to be the leading cause of death in patients with Type-2 Diabetes Mellitus (T2D). Aggressive use of HMG-CoA Reductase Inhibitors (statins) and blood pressure lowering agents are showing signs of success as rates of coronary heart disease are on the decline (Ali et al., 2013); however, a substantial amount of residual risk remains suggesting that additional prevention strategies are needed particularly in light of recent increases in the prevalence of T2D (Gregg et al., 2007). Treatments that block the damaging effects of oxidants have long been considered as potential strategies to reduce the risk of cardiovascular disease. Because redox signaling in the heart and other tissues can have both physiological and pathological effects (Burgoyne et al., 2012) any benefit from anti-oxidant therapies may be limited. Indeed, while Vitamin E showed benefit in a mouse atherosclerosis model (Pratico et al., 1998) and observational studies showed an inverse association of Vitamin E intake and cardiovascular disease (Jha et al., 1995), randomized double blind placebo controlled trials do not support a benefit from Vitamin E, and even suggested harm (Lonn et al., 2005). The discordant results of anti-oxidant clinical trials compared with observational and experimental studies raise many considerations including whether clinical trials testing anti-oxidant compounds should target enrollment of subjects that have increased oxidant stress (Robinson et al., 2006). In this issue of EBioMedicine, Kobylecki et al. contribute to our understanding of the role of the natural anti-oxidant system plays in cardiovascular disease through their analysis of the Copenhagen General Population Study and the Copenhagen City Heart Study (Kobylecki et al., 2015). The authors studied a single nucleotide polymorphism in the extracellular superoxide dismutase-3 gene (SOD3) that results in the exchange of an amino acid causing the SOD3 peptide to not be retained in the blood vessel wall. Diabetic individuals heterozygous for this SOD3 variant were found to have an increased risk of cardiovascular disease while strikingly there was no signal in subjects without diabetes. These findings, supported by independent studies (Mohammedi et al., 2015), suggest that some individuals have a genetically-driven impairment of anti-oxidant defenses that predispose them to cardiovascular disease in states of oxidant stress such as diabetes. What is currently unknown is whether restoring anti-oxidant defenses in people that carry the SOD3 polymorphism abrogates the additional risk of cardiovascular disease. Two points should be emphasized. First, despite the negative findings of previous randomized clinical trials this study and others like it should motivate the continued development and testing of novel anti-oxidant compounds to prevent cardiovascular disease, particularly in genetically susceptible individuals that have T2D. Second, genetic studies continue to identify meaningful insight into disease pathogenesis when results from animal and clinical studies conflict. We are on the verge of realizing the benefits of Precision Medicine in cancer therapy through the use of genetic information to guide treatment selection (Collins and Varmus, 2015). While the current use of genetics to guide the prevention of cardiovascular disease is in its infancy, clinical trials that focus on genetically at risk individuals may have the strongest ability to demonstrate a proof-of-principle for the potential benefits of novel treatments.

Personalized medicine and stroke prevention: where are we?

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.

Genetic factors of rheumatoid arthritis

Rheumatoid arthritis(RA)is one of common autoimmune diseases. As with other complex disorders, recent genome-wide association studies(GWASs)have greatly contributed to our understanding of RA etiology. In this review, the genetic configuration of RA as revealed through GWASs is described. In addition, I discuss the pathologic mechanisms of RA as suggested by the findings of genetic and functional studies of individual RA-associated genes, and the potential use of genetic information for novel drug discovery.

A genetic risk score is associated with polycystic ovary syndrome-related traits

Is a genetic risk score (GRS) associated with polycystic ovary syndrome (PCOS) and its related clinical features? The GRS calculated by genome-wide association studies (GWASs) was significantly associated with PCOS status and its related clinical features. PCOS is a heterogeneous disorder and is characterized by oligomenorrhea, hyperandrogenism and polycystic ovary morphology. Although recent GWASs have identified multiple genes associated with PCOS, a comprehensive genetic risk study of these loci with PCOS and related traits (e.g. free testosterone, menstruation number/year and ovarian morphology) has not been performed. This study was designed as a cross-sectional case-control study. We recruited 862 women with PCOS and 860 controls. Women with PCOS were divided into four subgroups: (1) oligomenorrhea + hyperandrogenism + polycystic ovary, (2) oligomenorrhea + hyperandrogenism, (3) oligomenorrhea + polycystic ovary and (4) hyperandrogenism + polycystic ovary. Genomic DNA was genotyped for the PCOS susceptibility loci using the HumanOmni1-Quad v1 array. Venous blood was drawn in the early follicular phase to measure baseline metabolic and hormonal parameters. A GRS was calculated by summing the number of risk alleles from 11 single-nucleotide polymorphisms (SNPs) that were identified in previous GWASs on PCOS. A weighted GRS (wGRS) was calculated by multiplying the number of risk alleles for each SNP by its estimated effect (beta) obtained from the association analysis. The GRS was higher in women with PCOS than in controls (8.8 versus 8.2, P < 0.01) and was significantly associated with PCOS after adjusting for age and BMI. An analysis of GRS quartiles (Q1 = 3-5, Q2 = 6-8, Q3 = 9-11, Q4 = 12-15) revealed that the subjects in the highest quartile showed a remarkable increased risk of PCOS compared with those in the lowest quartile (odds ratio = 6.28, P < 0.001). Free testosterone level, menstruation number per year, ovarian volume and ovarian follicle numbers were significantly associated with the GRS (in all cases, P < 0.01). The wGRS yielded similar results. We used 11 loci for the calculation of GRS, but a higher number of PCOS risk alleles was reported in previous studies. Therefore, further studies should assess the value of GRS including the additional SNPs related to PCOS. Although a GRS of ≥12 was significantly associated with PCOS, the GRS showed a poor predictive value; therefore, the use of genetic information based on current GWAS data only may present problems. The GRS could be used to identify asymptomatic individuals among people at risk and stratify them into accurate risk categories for the purpose of individualizing treatment approaches, which could potentially improve health outcomes. None of the authors have any conflicts of interest to declare. No funding was obtained for the study.

Genetic risk for atrial fibrillation could motivate patient adherence to warfarin therapy: a cost effectiveness analysis.

BackgroundAtrial fibrillation (AF) increases risk of stroke, and although this stroke risk can be ameliorated by warfarin therapy, some patients decline to adhere to warfarin therapy. A prospective clinical study could be conducted to determine whether knowledge of genetic risk for AF could increase adherence to warfarin therapy for patients who initially declined therapy. As a prelude to a potential prospective clinical study, we investigated whether the use of genetic information to increase adherence could be cost effective.MethodsMarkov model assessed costs and utilities of two care strategies for AF patients who declined warfarin therapy. In the usual care strategy patients received aspirin. In the test strategy genetic risk for AF was assessed (genotype of the 4q25 locus) and some patients with a positive genetic test (≥1 risk allele) were assumed to adhere to warfarin therapy. The remaining patients received aspirin. The incremental cost-effectiveness ratio (ICER) was the ratio of the costs differential and the quality adjusted life-years (QALYs) differential for the two strategies.ResultsWe found that the 4q25 genetic testing strategy, compared with the usual care strategy (aspirin therapy), would be cost-effective (ICER $ 47,148) if 2.1 % or more of the test positive patients were to adhere to warfarin therapy. The test strategy would become a cost saving strategy if 5.3 % or more of the test positive patients were to adhere to warfarin therapy. If 20 % of test positive patients were to adhere to warfarin therapy in a hypothetical cohort of 1000 patients, 7 stroke events would be prevented and 3 extra-cranial major bleeding events would be caused over 5 years, resulting in a cost savings of ~ $250,000 and a net gain of 9 QALYs.DiscussionA clinical study to assess the impact of patient knowledge of genetic risk of AF on adherence to warfarin therapy would be merited because even a modest increase in patient adherence would make a genetic testing strategy cost-effective.ConclusionProviding patients who declined warfarin therapy with information about their genetic risk of AF would be cost effective if this genetic risk information resulted in modest increases in adherence.

Developmental Genetics and Congenital Anomalies of the Kidney and Urinary Tract.

Congenital anomalies of the kidney and urinary tract (CAKUT) are common birth defects and the leading cause of end-stage renal disease in children. There is a wide spectrum of renal abnormalities, from mild hydronephrosis to more severe cases, such as bilateral renal dysplasia. The etiology of the majority of cases of CAKUT remains unknown, but there is increasing evidence that genomic imbalance contributes to the pathogenesis of CAKUT. Advances in human and mouse genetics have contributed to increased understanding of the pathophysiology of CAKUT. Mutations in genes involved in both transcription factors and signal transduction pathways involved in renal development are associated with CAKUT. Large cohort studies suggest that copy number variants, genomic, or de novo mutations may explain up to one-third of all cases of CAKUT. One of the major challenges to the use of genetic information in the clinical setting remains the lack of strict genotype-phenotype correlation. However, identifying genetic causes of CAKUT may lead to improved diagnosis of extrarenal complications. With the advent of decreasing costs for whole genome and exome sequencing, future studies focused on genotype-phenotype correlations, gene modifiers, and animal models of gene mutations will be needed to translate genetic advances into improved clinical care.

The use of genetic information in the prediction of Type 2 diabetes.

Type 2 diabetes (T2D) is a metabolic disorder characterized by high blood glucose levels and elevated risk of cardiovascular events. The progression of T2D can be delayed, or prevented, so early prediction is of high importance. More than 70 genetic loci are associated with T2D risk, raising the possibility of early identification of future cases. Results show that the benefits in discrimination by including genes in current risk models are uncertain. Improvements have been shown in reclassification but are too modest for clinical use. Given the current guidelines for T2D risk assessment and the increasing availability of genotyped individuals, we could soon be able to use genetics, not to quantify risk, but to inform clinicians on those requiring earlier observation.

Applying tumor genotyping and new clinical approaches to the management of colorectal cancer.

The last two decades have seen a dramatic improvement in outcomes for patients with metastatic colorectal cancer (mCRC) with median survival now more than 30 months. This improvement in outcomes has come from a multidisciplinary approach to the care of patients with mCRC that combines systemic chemotherapy with improved surgical techniques, sophisticated radiologic interventions, and local therapy, and from the use of targeted drugs that have ushered in an era of genomic analysis in the standard care of mCRC. Treatment of mCRC is now individualized both based on pattern and extent of metastatic disease and tumor genetics, particularly mutations in oncogenes, such as KRAS, NRAS, and BRAF, and inactivation of the mismatch repair enzymes. In this special issue of the Journal of Gastrointestinal Oncology (JGO), applying tumor genotyping and new clinical approaches to the management of colorectal cancer, experts in the field review key advances in the management of CRC patients. The topics addressed in this issue encompass a variety of timely themes. Several articles address the use of genetic information in the management of CRC. Sylvester and Vakiani discuss genetic progression in mCRC and tumor heterogeneity between primary and metastatic CRC. Kawakami, Zaanan, and Sinicrope review implications of mismatch repair-deficient status on the management of early stage colorectal cancer. Clarke and Kopetz summarize the emerging understanding of BRAF mutant CRC as a distinct subset in CRC, and Corcoran discusses exciting early results in the targeting of these tumors. Finally, Lipsyc and Yaeger discuss recent data that oncogene mutations may affect the pattern of metastases of CRC. Several authors discuss advances in the treatment of patients with limited metastatic disease. McAuliffe, Qadan, and D’Angelica review advances in liver resection and hepatic arterial therapy for patients with colorectal cancer liver metastases. Ridge and Solomon review the use of radiofrequency ablation to treat colorectal lung metastases. Guend, Patel, and Nash discuss advances in the treatment of peritoneal-limited colorectal metastases and the use of intraperitoneal therapies. We believe this special issue of the JGO addresses many of the challenges and new approaches in the management of CRC. We hope you find it informative and enjoyable.

Abstract P4-12-11: Patient perceptions of the impact of genetic testing for breast cancer risk on health insurance

Abstract Introduction: Genetic testing for breast cancer risk is increasingly available, and patients’ perceptions regarding how results may affect their health insurance may affect their likelihood to opt for testing. We sought to determine the changes in patient perceptions regarding the impact of genetic testing on health insurance over a five year period from 2005 to 2010. Notably, during this time period two significant U.S. federal health care laws were enacted. First, the Genetic Information Nondiscrimination Act (GINA) passed in 2008, protecting against the use of genetic information for health insurance coverage. Second, the Patient Protection and Affordable Care Act (PPACA) passed in 2010, representing a major regulatory overhaul of the U.S. health care system, promising universal access to health care coverage. Methods: The National Health Interview Survey is a population-based face-to-face survey conducted annually by the CDC. In 2005 and in 2010, a cancer supplement was fielded which asked respondents who had undergone genetic testing whether they felt this had, or would, affect their health insurance. We evaluated the cohort of participants who had undergone genetic testing for breast cancer, and used SUDAAN statistical software to evaluate changes in the proportion who felt genetic testing would adversely affect their health insurance, and factors associated with this perception. Results: In 2005, 48 respondents had undergone genetic testing for breast cancer, representing 333,544 people in the population. Of these, 16.8% felt that genetic testing had, or would, affect their health insurance. In 2010, 16 respondents had undergone genetic testing for breast cancer, representing 93,301 people in the population. Of these, 17.4% felt that genetic testing had, or would affect their health insurance. In 2005, this perception varied based on insurance status, education, and region; but in 2010, perceptions of the impact of genetic testing on health insurance were unaffected by these factors. Patient Perception of Genetic Testing Effect on Health Insurance 20052010 %p-value%p-valueInsurance 0.006 0.276Uninsured11.8 22.8 Medicaid0 59.5 Medicare28.7 7.0 Private15.7 18.8 Other35.4 0 Education 0.031 0.463&amp;lt; Grade 128.7 7.9 High School/GED0 17.2 Some college0 19.0 Associates34.5 19.5 Bachelors34.2 5.6 Masters/Prof/Doctorate38.3 42.5 Region 0.077 0.122Northeast35.3 30.3 Midwest17.0 6.1 South3.2 29.1 West5.8 10.7 Age 0.449 0.463&amp;lt;5526.2 14.0 &amp;gt;5512.2 21.1 Conclusion: More people undergoing genetic testing for breast cancer risk in 2010 were concerned that this would adversely affect their health insurance than in 2005, and there was less variation in this perception based on insurance, education and region than in the earlier period. We conclude that, despite the passage of significant U.S. legislation including GINA and PPACA, nearly 1 in 5 people undergoing genetic testing remained concerned about potential risk to their health insurance coverage. Accurate and early identification of those people carrying a cancer genetic mutation is crucial to cancer prevention and treatment efforts; our results suggest a dire need for improved education regarding federal protections for genetic testing so that any barriers to seeking genetic counseling are eliminated. Citation Format: Erin Hofstatter, Anees Chagpar. Patient perceptions of the impact of genetic testing for breast cancer risk on health insurance [abstract]. In: Proceedings of the Thirty-Seventh Annual CTRC-AACR San Antonio Breast Cancer Symposium: 2014 Dec 9-13; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2015;75(9 Suppl):Abstract nr P4-12-11.

“Bad genes” & criminal responsibility

The genetics of the accused is trying to break into the courts. To date several candidate genes have been put forward and their links to antisocial behavior have been examined and documented with some consistency. In this paper, we focus on the so called “warrior gene”, or the low-activity allele of the MAOA gene, which has been most consistently related to human behavior and specifically to violence and antisocial behavior. In preparing this paper we had two objectives. First, to summarize and analyze the current scientific evidence, in order to gain an in depth understanding of the state of the issue and determine whether a dominant line of generally accepted scientific knowledge in this field can be asserted. Second, to derive conclusions and put forward recommendations related to the use of genetic information, specifically the presence of the low-activity genotype of the MAOA gene, in modulation of criminal responsibility in European and US courts.