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Direct-to-consumer personal genome testing is now widely available to consumers. Proponents argue that knowledge is power but critics worry about consumer safety and potential harms resulting from misinterpretation of test information. In this article, we consider the health system implications of direct-to-consumer personal genome testing, focusing on issues of accountability, both corporate and professional.

This book explores implicit choices made by researchers, policy makers, and funders regarding who benefits from society's investment in health research. The authors focus specifically on genetic research and examine whether such research tends to reduce

Precision medicine is a new health care concept intended to hasten progress toward individualized treatment and, in so doing, to improve everyone's opportunity to enjoy good health. Yet, this concept pays scant attention to opportunities for change in the social determinants that are the major driv­ers of health. Precision medicine research is likely to generate improvements in medical care but may have the unintended conse­quence of worsening existing disparities in health care access. For prevention, precision medicine emphasizes comprehensive risk prediction and individual efforts to accom­plish risk reduction. The application of the precision medicine vision to type 2 diabe­tes, a growing threat to population health, fails to acknowledge collective responsibility for a health-promoting society.Ethn Dis. 2019;29(Suppl 3):669-674;doi:10.18865/ed.29.S3.669

Genome sequencing technology provides new and promising tests for clinical practice, including whole genome sequencing, which measures an individual's complete DNA sequence, and whole exome sequencing, which measures the DNA for all genes coding for proteins. These technologies make it possible to test for multiple genes in a single test, which increases the efficiency of genetic testing. However, they can also produce large amounts of information that cannot be interpreted or is of limited clinical utility. This additional information could be distracting for patients and clinicians, and contribute to unnecessary healthcare costs. The potential for genomic sequencing to improve care will be context-dependent, varying for different patients and clinical settings. This Article argues that a disciplined approach is needed, incorporating research to assess when and how genomic information can improve clinical outcomes, practice guidelines that direct optimal uses of genomic sequencing, and efforts to limit the production of genomic information unrelated to the clinical needs of the patient. Without this approach, genomic testing could add to current unsustainable healthcare costs and prove unaffordable in the long run.

Genetic research can produce information that is beyond the aims of the research study yet may be of clinical or personal interest to study participants. We conducted semi-structured interviews with 44 researchers who were asked to describe how they would respond to a hypothetical vignette regarding the disclosure of findings with unanticipated clinical significance to research study participants. Interviews were transcribed and analyzed using content and thematic analyses. Researchers' decision-making processes about whether to disclose incidental findings were governed by potentially conflicting duties in three primary domains: Information quality, adherence to rules, and participant welfare. There are several actions researchers can take to prepare for incidental findings, including: Adding specific language in informed consent documents to state clearly how investigators will handle disclosure; exploring how prepared participants might be during the consent process to make decisions about how they would like to be approached in the event of incidental findings; developing procedures for appropriately communicating individual results and providing follow-up support based on participant preferences; and, in genetic research, having an awareness of the range of traits expressed by the genes under study.

<i>Objective:</i> Family history of cancer is recognized as one of the most important risk factors in predicting personal cancer risk. Nevertheless, there are few published population-based estimates of family history prevalence by age categories. <i>Methods:</i> We used responses of female controls (n = 4,754) from the population-based Cancer and Steroid Hormone study (1980–1982) to estimate the frequency of family history of various cancers among female relatives. We determined the age- and race-specific prevalence of family history of breast, ovarian, endometrial, and other cancers in first-degree female relatives of women aged 20–54 years. To evaluate changes in reporting family history over time, we also analyzed responses of control women (n = 1,544) from the Women's Interview Study on Health (WISH) (1990–1992) to estimate the prevalence of family history of breast cancer. <i>Results:</i> The prevalence of a first-degree family history of breast, ovarian, endometrial, and cervical cancers was 6.4% (95% CI 5.7–7.1%), 1.1% (0.8–1.4%), 3.5% (3.0–4.0%), and 2.1% (1.7–2.5%), respectively. Among first-degree female relatives, the prevalence of family history of colon, lung, and thyroid cancers was 2.4% (2.1–2.9%), 1.5% (1.2–1.8%), and 0.5% (0.3–0.7%), respectively. The prevalence of family history of breast and colon cancers increased significantly with respondent's age. Similar results for family history of breast cancer were obtained from an analysis of responses from the WISH. <i>Conclusions:</i> In addition to providing a point of reference for research and health policy, these results may be of interest to providers who care for female patients because of the usefulness of information about family history of cancer for assessing lifetime risk of cancer.

<i>Objective:</i> The purpose of our study was to evaluate the evidence on the prevalence of cytochrome P450 enzyme polymorphisms as potential genetic factors influencing drug efficacy and safety in the indigenous populations of the American hemispheres. <i>Methods:</i> We conducted a systematic review of studies published between 1985 and 2006 using the Pubmed database. <i>Results:</i> We identified only 10 original research studies on <i>CYP2A6, CYP2D6, CYP2C9, CYP2C19 </i>and <i>CYP2E1</i> in 13 indigenous American populations. Interethnic differences in the frequency of <i>CYP450</i> genetic variants existed both among the examined indigenous populations and in comparison with African, Asian and European populations. <i>Conclusions:</i> There are surprisingly few data on <i>CYP450 </i>enzyme polymorphisms in indigenous American populations, and it is difficult to draw any clear inferences about how these populations might be expected to respond to drugs in relation to other racial or ethnic groups. This lack of information could create a barrier to the use of pharmacogenetic testing in these populations. Collaborative partnerships between indigenous communities and researchers are needed to avail the clinical benefits of <i>CYP450</i> enzyme polymorphism testing to indigenous populations.

<i>Objective:</i> The present study reports on the important issue of how family communication and support regarding breast cancer risk affects interest in genetic testing and mental health. <i>Methods:</i> Participants (n = 221) were women aged 18–74 who had at least one relative of Ashkenazi Jewish descent, no personal history of breast or ovarian cancer, and lived within 60 miles of Seattle, Wash. <i>Results:</i> Communication about breast cancer risk was reported with very low frequency across all types of relatives. Women talked with their mothers and sisters more often than their fathers, brothers, or children. The only significant predictor of interest in genetic testing was the individual level variable of seeking social support. <i>Conclusion:</i> Social support needs might be a part of the genetic testing process.

<i>Objective:</i> To document the role of physicians' family history of cancer in terms of personal use of cancer preventive services and in recommending that patients receive such services. <i>Methods:</i> We examined the Women Physicians' Health Study, a questionnaire-based study of a representative sample of 4,501 female physicians in the United States. <i>Results:</i> Among the physicians surveyed, 38.9% (95% confidence interval 37.1–40.7) reported a family history of cancer. A physician's self-reported family history of a specific cancer was positively associated with the physician having had a more recent screening exam for that cancer. Family history of any cancer was positively associated with older age, white race, recent sigmoidoscopy, recent mammogram, digital rectal exam, a blood stool test, history of cigarette smoking and history of recent alcohol use. Physicians' family histories did not significantly influence the reported frequency of recommendations of screening services for their patients. <i>Conclusions:</i> The observed association between a positive physician family history and personal cancer prevention practices suggests that physicians are receptive to the concept of a positive family history of cancer as a risk factor for cancer. This could present an educational opportunity for physicians to emphasize the importance of cancer family history in patients, particularly with respect to underutilized services such as screening for colorectal cancer.

<i>Background:</i> Several gene variants conveying a modestly increased risk for disease have been described for colorectal cancer. Patient acceptance of gene variant testing in clinical practice is not known. We evaluated the potential impact of hypothetical colorectal-cancer-associated gene variant testing on quality of life, health habits and cancer screening behavior. <i>Methods:</i> First-degree relatives of colorectal cancer patients and controls from the Seattle Colorectal Cancer Familial Registry were invited to participate in a web-based survey regarding testing for gene variants associated with colorectal cancer risk. <i>Results:</i> 310 relatives and 170 controls completed the questionnaire. Quality of life for the hypothetical carrier state was modestly and nonsignificantly lower than current health after adjustment for sociodemographic and health factors. In the positive test scenario, 30% of respondents expressed willingness to change their diet, 25% to increase exercise, and 43% to start colorectal cancer screening. The proportions willing to modify these habits did not differ between groups. <i>Conclusions:</i> Testing for gene variants associated with colorectal cancer risk may not influence quality of life, but may impact health habits and screening adherence. Changing behaviors as a result of testing may help to reduce cancer incidence and mortality, particularly among those at higher risk for colorectal cancer.

Although ischemic heart disease tends to cluster in families, previous studies have reported a modest (2-fold increased risk) to strong (10-fold increased risk) contribution of family history to the explanation of disease occurrence. The authors assessed the familial aggregation of early-onset myocardial infarction in 11,307 adults aged <65 years who participated in the Third National Health and Nutrition Examination Survey. Logistic regression was used to obtain odds ratios (ORs) and 95% confidence intervals (CIs). A parental history was more common in those with (n = 237) than in those without (n = 11,070) a myocardial infarction (19.8 vs. 7.9%, p ≤ 0.01). Adults with a parental history were also more likely to have multiple risk factors for cardiovascular disease (OR for four or five risk factors compared with none: 2.9, 95% CI: 1.4, 6.3). After multivariate adjustment, the likelihood of myocardial infarction was more than three times greater among adults with a parental history than among those without (95% CI: 1.7, 6.7). A maternal history of myocardial infarction was strongly associated (OR = 6.1, 95% CI: 2.1, 17.4) with an increased likelihood of myocardial infarction, and a paternal history was associated with a 3-fold (95% CI: 1.5, 6.3) increased likelihood of myocardial infarction after adjustment for cardiovascular disease risk factors. These results suggest a familial aggregation of early-onset myocardial infarction and show that family history is strongly associated with cardiovascular disease risk factors.

As genomic researchers are encouraged to engage in broad genomic data shar­ing, American Indian/Alaska Native/Native Hawaiian (AI/AN/NH) leaders have raised questions about ownership of data and biospecimens and concerns over emerging challenges and potential threats to tribal sovereignty. Using a community-engaged research approach, we conducted 42 semi-structured interviews with tribal lead­ers, clinicians, researchers, policy makers, and tribal research review board members about their perspectives on ethical issues related to genetics in AI/AN/NH communi­ties. We report findings related to perspec­tives on genetic research, data sharing, and envisioning stronger oversight and manage­ment of data. In particular, participants voiced concerns about different models of data sharing, infrastructure and logistics for housing data, and who should have authority to grant access to data. The results will ultimately guide policy-making and the creation of guidelines and new strategies for tribes to drive the research agenda and promote ethically and culturally appropriate research.Ethn Dis.2019;29(Suppl 3):659-668;doi:10.18865/ed.29.S3.659

<i>Background/Aims:</i> This study was performed to identify primary care physicians' (PCPs) attitudes toward genetic medicine and their perceived needs for education in this area. <i>Methods:</i> Semistructured telephone interviews with 24 PCPs in the northwestern United States. <i>Results:</i> PCPs are interested in learning more about who should receive genetic testing and what tests are available. Training in counseling and risk communication is desired, as are 'just-in-time' resources to guide clinical decisions. <i>Conclusions:</i> PCPs are eager to learn about genetic medicine; however, their priorities may differ in emphasis from those put forward by genetics experts. Future educational efforts would do well to build on PCPs' prior knowledge base, highlight the clinical relevance of genetic medicine to primary care practice, and emphasize 'red flags': cues to alert PCPs to a potential genetic contribution.