Integrating clinical genetics in cardiology: Current practices and recommendations for education.

PURPOSE: Recent advances in genetics can facilitate the identification of at-risk individuals and diagnosis of cardiovascular disorders. As a nascent field, more research is needed to optimize the clinical practice of cardiovascular genetics, including the assessment of educational needs to promote appropriate use of genetic testing. METHODS: Qualitative interviews conducted with cardiovascular specialists (N = 43) were audiotaped. Thematic analysis was conducted on professional transcripts. RESULTS: Participants recognized the value of genetics in identifying and diagnosing at-risk individuals. However, organizational systems, cost, and feeling of unpreparedness were identified as barriers. Participants felt that the rapid pace of genetic science resulted in further challenges to maintaining an adequate knowledge base and highlighted genetics experts' importance. Even when a genetics expert was available, participants wanted to know more about which patients benefit most from genetic testing and expressed a desire to better understand management recommendations associated with a positive test result. CONCLUSION: Participants recognized the benefit but felt underprepared to provide recommendations for genetic testing and, in some cases, lacked organizational resources to refer patients to a genetics expert. Additional training in genetics for cardiology practitioners and ensuring availability of a genetics expert can improve the use of genetics in cardiology settings.

How patients deal with an ambiguous medical test: Decision-making after genetic testing.

OBJECTIVE: We know little about how patients make decisions when they receive a variant of uncertain significance result (VUS) from genetic testing. The purpose of this study was to elucidate a model of patient-informed decision-making after receiving a VUS result. METHODS: Using an adapted Mental Models Approach, we conducted semi-structured interviews with women who received a VUS result from genetic testing for hereditary breast cancer (N = 20) to explore factors they believed were relevant to their decision-making. Two coders used a coding scheme informed by experts in hereditary breast cancer to conduct analysis. Inter-coder reliability was α = .86. RESULTS: Three overarching decision themes emerged from the interviews: managing ambiguity, medical risk management, and sharing results with others. While participants noted some difficulty understanding their result, genetic counselors' interpretations, psychosocial factors (e.g., risk perceptions), and competing extrinsic demands influenced their decisions. CONCLUSION: Complex influences affect patient decision-making after a VUS result from genetic testing and may encourage health protective behavior. PRACTICE IMPLICATIONS: Even patients who understand their test result could use support managing the ambiguity of their test result and sharing it with others.

A Review of African Americans' Beliefs and Attitudes About Genomic Studies: Opportunities for Message Design.

Precision Medicine, the practice of targeting prevention and therapies according to an individual's lifestyle, environment or genetics, holds promise to improve population health outcomes. Within precision medicine, pharmacogenomics (PGX) uses an individual's genome to determine drug response and dosing to tailor therapy. Most PGX studies have been conducted in European populations, but African Americans have greater genetic variation when compared with most populations. Failure to include African Americans in PGX studies may lead to increased health disparities. PGX studies focused on patients of African American descent are needed to identify relevant population specific genetic predictors of drug responses. Recruitment is one barrier to African American participation in PGX. Addressing recruitment challenges is a significant, yet potentially low-cost solution to improve patient accrual and retention. Limited literature exists about African American participation in PGX research, but studies have explored barriers and facilitators among African American participation in genomic studies more broadly. This paper synthesizes the existing literature and extrapolates these findings to PGX studies, with a particular focus on opportunities for message design. Findings from this review can provide guidance for future PGX study recruitment.

What People Want to Know About Their Genes: A Critical Review of the Literature on Large-Scale Genome Sequencing Studies.

From a public health perspective, the "All of Us" study provides an opportunity to isolate targeted and cost-effective prevention and early-detection strategies. Identifying motivations for participation in large-scale genomic sequencing (LSGS) studies, and motivations and preferences to receive results will help determine effective strategies for "All of Us" study implementation. This paper offers a critical review of the literature regarding LSGS for adult onset hereditary conditions where results could indicate an increased risk to develop disease. The purpose of this review is to synthesize studies which explored peoples' motivations for participating in LSGS studies, and their desire to receive different types of genetic results. Participants were primarily motivated by altruism, desire to know more about their health, and curiosity. When asked about hypothetically receiving results, most participants in hypothetical studies wanted all results except those which were uncertain (i.e., a variant of uncertain significance (VUS)). However, participants in studies where results were returned preferred to receive only results for which an intervention was available, but also wanted VUS. Concerns about peoples' understanding of results and possible psychosocial implications are noted. Most studies examined populations classified as "early adopters," therefore, additional research on motivations and expectations among the general public, minority, and underserved populations is needed.