Whether, when, and how to communicate genetic risk to minors: 'I wanted more information but I think they were scared I couldn't handle it'.

Genetic test results are often relevant not only to persons tested, but also to their children. Questions of whether, when, and how to disclose parental test results to children, particularly minors, can be difficult for parents to navigate. Currently, limited data are available on these questions from the perspective of minors.

Family Communication Patterns and Challenges of Huntington's Disease Risk, the Decision to Pursue Presymptomatic Testing, and Test Results.

Background: Communicating genetic information within families can provide individuals with the emotional support, alert family members to their own potential risk, and strengthen relationships. However, these communications have the potential to cause emotional distress to individuals and family members if family members are informed of a risk they do not wish to know or discuss. Communication about the decision to pursue testing and test results are especially sensitive in Huntington's disease (HD), where individuals often feel strongly about either knowing or not knowing their genetic status.

Risk perception before and after presymptomatic genetic testing for Huntington's disease: Not always what one might expect.

Background: In 1983, Huntington's disease (HD) was the first genetic disease mapped using DNA polymorphisms. Shortly thereafter, presymptomatic genetic testing for HD began in the context of two research studies. One of these trials was at the Johns Hopkins University Huntington's Disease Center.

Barriers to clinical adoption of next-generation sequencing: a policy Delphi panel's solutions.

Aim: Identify solutions to the most important policy barriers to the clinical adoption of next-generation sequencing.

Materials & Methods: Four-round modified policy Delphi with a multistakeholder panel of 48 experts. The panel deliberated policy solutions to (previously reported) challenges deemed most important to address.

Barriers to clinical adoption of next generation sequencing: Perspectives of a policy Delphi panel.

This research aims to inform policymakers by engaging expert stakeholders to identify, prioritize, and deliberate the most important and tractable policy barriers to the clinical adoption of next generation sequencing (NGS). A 4-round Delphi policy study was done with a multi-stakeholder panel of 48 experts. The first 2 rounds of online questionnaires (reported here) assessed the importance and tractability of 28 potential barriers to clinical adoption of NGS across 3 major policy domains: intellectual property, coverage and reimbursement, and FDA regulation.

Physicians' perspectives regarding pragmatic clinical trials.

Aim: Practicing physicians inevitably become involved in pragmatic clinical trials (PCTs), including comparative effectiveness research. We sought to identify physicians' perspectives related to PCTs.

Methods: In-depth semistructured interviews with 20 physicians in the USA.

Genomics and infectious disease: a call to identify the ethical, legal and social implications for public health and clinical practice.

Advances in genomics are contributing to the development of more effective, personalized approaches to the prevention and treatment of infectious diseases. Genetic sequencing technologies are furthering our understanding of how human and pathogen genomic factors - and their interactions - contribute to individual differences in immunologic responses to vaccines, infections and drug therapies. Such understanding will influence future policies and procedures for infectious disease management.

Public preferences regarding informed consent models for participation in population-based genomic research.

Purpose: Some large population biobanks that house biospecimens and health information for research seek broad consent from participants, whereas others reconsent for specific new studies. Understanding research participants' attitudes and preferences about broad and narrow consent may improve recruitment, retention, and public support.

Methods: An online survey was conducted among a representative sample of 4,659 US adults to examine relationships between consent preferences and demographic factors, beliefs about privacy and the value of research, and the perceived trustworthiness of researchers.

Preferences for opt-in and opt-out enrollment and consent models in biobank research: a national survey of Veterans Administration patients.

Purpose: In 2006, the Department of Veterans Affairs launched the Genomic Medicine Program with the goal of using genomic information to personalize and improve health care for veterans. A step toward this goal is the Million Veteran Program, which aims to enroll a million veterans in a longitudinal cohort study and establish a database with genomic, lifestyle, military-exposure, and health information. Before the launch of the Million Veteran Program, a survey of Department of Veterans Affairs patients was conducted to measure preferences for opt-in and opt-out models of enrollment and consent.

Public preferences regarding the return of individual genetic research results: findings from a qualitative focus group study.

Purpose: People are interested in receiving their individual research results in exchange for participating in genetic research. However, it is unclear whether the public understands the nature and limitations of these results and whether they would want information with unknown clinical utility.

Methods: We conducted 10 focus groups in three US cities to examine the types of results people would want and the perceived value of different types of individual research results.

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

Direct-to-consumer genetic testing has generated speculation about how customers will interpret results and how these interpretations will influence healthcare use and behavior; however, few empirical data on these topics exist. We conducted an online survey of DTC customers of 23andMe, deCODEme, and Navigenics to begin to address these questions. Random samples of U.

Functional CRH variation increases stress-induced alcohol consumption in primates.

Corticotropin-releasing factor (CRF), encoded by the CRH gene, is a key integrator of stress responses, and, as such, CRH gene variation may contribute to individual differences in susceptibility to stress-related pathology. In rhesus macaques, a single nucleotide polymorphism (SNP) is found within the CRH promoter (-248C--> T). Here, we assessed whether this variant influenced stress responding and, because increased CRF system activity drives alcohol drinking in rodents, we examined whether it predicted voluntary alcohol consumption as a function of prior stress exposure.

CRH haplotype as a factor influencing cerebrospinal fluid levels of corticotropin-releasing hormone, hypothalamic-pituitary-adrenal axis activity, temperament, and alcohol consumption in rhesus macaques.

Context: Both highly stress-reactive and novelty-seeking individuals are susceptible to alcohol use disorders. Variation in stress reactivity, exploration, and response to novelty have been attributed to differences in corticotropin-releasing hormone (CRH) system function. As such, CRH gene variation may influence risk for alcohol use and dependence.

Sexual dichotomy of an interaction between early adversity and the serotonin transporter gene promoter variant in rhesus macaques.

A polymorphism in the human serotonin transporter gene promoter (5-HTTLPR) is associated with anxiety and increased risk for developing depression in the face of adversity. Here, we report that among infant rhesus macaques, an orthologous polymorphism (rh5-HTTLPR) interacts with adversity in the form of peer rearing to influence adrenocorticotropic hormone (ACTH) response to stress and, further, that this interaction is sexually dichotomous. ACTH responses to separation are higher in l/s than in l/l males.

Rearing condition and rh5-HTTLPR interact to influence limbic-hypothalamic-pituitary-adrenal axis response to stress in infant macaques.

Background: In humans and macaques, a promoter polymorphism that decreases transcription of the serotonin transporter gene is associated with anxiety. Serotonin transporter gene disruption in rodents produces anxious animals with exaggerated limbic-hypothalamic-pituitary-adrenal (LHPA) responses to stress. We wanted to determine whether serotonin transporter gene promoter variation (rh-5HTTLPR) and rearing condition would interact to influence endocrine responses to stress in infant rhesus macaques.