![]() ![]() In the case of disease risk, lay-persons may see genetic explanations as the main, or only, factor in disease etiology and may be more likely to feel distress or hopelessness when they are presented with genetic risk information ( Dar-Nimrod & Heine, 2011). ![]() Termed “genetic essentialism,” this is the idea that lay-persons view genetic influences as powerful, deterministic, and immutable ( Gould & Heine, 2012). Individuals who receive genetic test results may overweight or misunderstand disease risk information. In a survey of 10,000 physicians, only 10% indicated comfort with genetic testing results ( Christensen, Vassy, et al., 2016 Patay & Topol, 2012).Īnother challenging and central aspect of returning genetic test results are the potential negative emotional and behavioral reactions when an individual learns about their genetic risk for some disease or trait. The number of practicing physicians is larger, of course ( Bureau of Labor Statistics, 2015b), but only a small fraction believe they can capably and correctly interpret genetic test results. There are currently somewhere between two and three thousand licensed practicing genetic counselors in the United States ( Bureau of Labor Statistics, 2015a), a number that is not expected to grow rapidly in the coming years ( Accreditation Council for Genetic Counseling, 2016 Sarah Lawrence College, 2016). On the other hand, the number of genetic counselors and physicians available to interpret and return genetic test results is growing slowly. From 2005 to 2015 there were an average of nearly 4,000 new entries each year in the NHGRI-EBI Catalog of published genome-wide association studies (GWAS), a repository of associations between genetic variants and (usually) complex diseases and traits ( Burdett et al., 2016 McKusick-Nathans Institute of Genetic Medicine, 2016b). For example, between 19 there were on average ~80,000 updates per year to the Online Mendelian Inheritance in Man (OMIM) ( McKusick-Nathans Institute of Genetic Medicine, 2016a) database. What is more, interpretations of genetic variants will change over time as research results continue to accumulate. The system is not structured to return results for hundreds of thousands of individuals, each of whom could be tested at hundreds of millions of known varying sites in their genome where each variant is, in principle, a candidate for disease-related interpretation. They order, interpret, and return results from genetic tests of targeted genomic loci for specific medical purposes ( Yu et al., 2013). In the traditional clinical genetic test results return model, doctors and genetic counselors act as conduits and gatekeepers. ![]() An important question is whether and how such data may be returned to the individuals or patients who provided their DNA and, if returned, how those individuals may interpret and be affected by this information. ![]() To date, hundreds of thousands of individual whole genome sequences have been generated, including individual research studies that have sequenced over 10,000 individuals each ( Telenti et al., 2016). The return of genetic test results in the population at large is increasingly feasible as the cost of genome sequencing drops and knowledge about genotype-disease relationships increases ( Mardis, 2011 Ritchie et al., 2015). ![]()
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