Awareness and Uptake of Direct-to-Consumer Genetic Testing Among Cancer Cases, Their Relatives, and Controls: The Northwest Cancer Genetics Network
ABSTRACT To determine if awareness of, interest in, and use of direct-to-consumer (DTC) genetic testing is greater in a sample of high-risk individuals (cancer cases and their relatives), compared to controls.
Participants were recruited from the Northwest Cancer Genetics Network. A follow-up survey was mailed to participants to assess DTC genetic testing awareness, interest, and use.
One thousand two hundred sixty-seven participants responded to the survey. Forty-nine percent of respondents were aware of DTC genetic testing. Of those aware, 19% indicated interest in obtaining and <1% reported having used DTC genetic testing. Additional information supplied by respondents who reported use of DTC genetic tests indicated that 55% of these respondents likely engaged in clinical genetic testing, rather than DTC genetic testing.
Awareness of DTC genetic testing was greater in our sample of high-risk individuals than in controls and population-based studies. Although interest in and use of these tests among cases in our sample were equivalent to other population-based studies, interest in testing was higher among relatives and people who self-referred for a registry focused on cancer than among cases and controls. Additionally, our results suggest that there may be some confusion about what constitutes DTC genetic testing.
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ABSTRACT: Single nucleotide polymorphisms (SNPs) have the potential to improve personalized medicine in breast cancer care. As new SNPs are discovered, further enhancing risk classification, SNP testing may serve to complement family history and phenotypic risk factors when assessed in a clinical setting. SNP analysis is particularly relevant to high-risk women who may seek out such information to guide their decision-making around risk-reduction. However, little is known about how high-risk women may respond to SNP testing with regard to clinical decision-making. We examined high-risk women's interest in SNP testing for breast cancer risk through an online survey of hypothetical testing scenarios. Women stated their preferences for sharing test results and selected the most likely follow-up action they would pursue in each of the test result scenarios (above average and below average risk for breast cancer). Four hundred seventy-eight women participated. Most women (89 %) did not know what a SNP was prior to the study. Once SNP testing was described, 75 % were interested in SNP testing. Participants stated an interest in lifestyle interventions for risk-reduction and wanted to discuss their testing results with their doctor or a genetic counselor. Women are interested in SNP testing and are prepared to make lifestyle changes based on testing results. Women's preference for discussing testing results with a healthcare provider aligns with the current trend towards SNP testing in a clinical setting.Journal of Genetic Counseling 12/2014; DOI:10.1007/s10897-014-9803-7 · 1.75 Impact Factor
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ABSTRACT: Direct-to-consumer genetic testing (DTC-GT) has sparked much controversy and undergone dramatic changes in its brief history. Debates over appropriate health policies regarding DTC-GT would benefit from empirical research on its benefits, harms, and limitations. We review the recent literature (2011-present) and summarize findings across (1) content analyses of DTC-GT websites, (2) studies of consumer perspectives and experiences, and (3) surveys of relevant health care providers. Findings suggest that neither the health benefits envisioned by DTC-GT proponents (e.g., significant improvements in positive health behaviors) nor the worst fears expressed by its critics (e.g., catastrophic psychological distress and misunderstanding of test results, undue burden on the health care system) have materialized to date. However, research in this area is in its early stages and possesses numerous key limitations. We note needs for future studies to illuminate the impact of DTC-GT and thereby guide practice and policy regarding this rapidly evolving approach to personal genomics.09/2013; 1(3):182-200. DOI:10.1007/s40142-013-0018-2
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ABSTRACT: It is the position of the Academy of Nutrition and Dietetics that nutritional genomics provides insight into how diet and genotype interactions affect phenotype. The practical application of nutritional genomics for complex chronic disease is an emerging science and the use of nutrigenetic testing to provide dietary advice is not ready for routine dietetics practice. Registered dietitian nutritionists need basic competency in genetics as a foundation for understanding nutritional genomics; proficiency requires advanced knowledge and skills. Unlike single-gene defects in which a mutation in a single gene results in a specific disorder, most chronic diseases, such as cardiovascular disease, diabetes, and cancer are multigenetic and multifactorial and therefore genetic mutations are only partially predictive of disease risk. Family history, biochemical parameters, and the presence of risk factors in individuals are relevant tools for personalizing dietary interventions. Direct-to-consumer genetic testing is not closely regulated in the United States and may not be accompanied by access to health care practitioners. Applying nutritional genomics in clinical practice through the use of genetic testing requires that registered dietitian nutritionists understand, interpret, and communicate complex test results in which the actual risk of developing a disease may not be known. The practical application of nutritional genomics in dietetics practice will require an evidence-based approach to validate that personalized recommendations result in health benefits to individuals and do not cause harm.Journal of the American Academy of Nutrition and Dietetics 02/2014; 114(2):299-312. DOI:10.1016/j.jand.2013.12.001 · 2.44 Impact Factor