Some authors have called for genetic ancestry test results to be used in healthcare, suggesting this would constitute “closing a gap” between health-related genetic testing and genetic ancestry testing ( 16). Find your roots,” “Explore your genetic roots,” “What's your tribe.”) ( 15). Advertising for a number of these companies strongly suggest they will connect the individual to their own ethnically-inflected history (“Discover your genetic heritage,” “Trace your DNA. In many cases, a primary motivation for consumers' engagement with DTC genetic testing is to receive this information ( 10).
The output normally consists of a list of percentages associated with particular continents and/or currently existing countries and/or ethnic/racial groups, depending on the company. One feature of some DTC genetic testing companies' output is referred to variously as biogeographical ancestry, genetic ethnicity, genetic heritage, or genetic ancestry (hereafter genetic ancestry), suggesting the person's DNA has been separated into sections associated with the places or groups from which the DNA originates. Recent work done by sociologists, anthropologists, and historians illustrates the myriad misunderstandings, miscommunications, and attempts to deal with historical discrimination between medical practitioners and marginalized people that have arisen around the issue of genetic testing ( 12– 14). There is also empirical evidence that concerns about DTC genetic testing are more prevalent for certain minority groups ( 11). This despite the fact a number of companies have issued public disclaimers, stating that “their services are not meant to be used as medical advice or as a diagnostic tool” ( 10). There is a definite mismatch between what consumers think that they are getting from these tests and what the companies themselves state they are giving to consumers of their products. The industry has been criticized for problems with reported invalidity of health-related results ( 7), lack of data privacy ( 8), and lack of transparency ( 9).
Between 20 some large scale companies in the industry worked to develop the evidence base to support their medical claims and, as a result, in 2017 the US FDA authorized the first DTC genetic test as an approved medical device, marking the start of a phase some authors have called DTC 2.0 ( 6). In the US context there were no clear regulatory mechanisms in place to assess the analytical validity, clinical validity, and clinical utility of DTC tests in the early 2000s when sale of genetic tests was beginning to gather speed ( 6). Explicitly health-related direct-to-consumer genetic testing emerged initially within an ambiguous regulatory setting in many countries ( 6). According to the MIT Technology Review, “he number of people who have had their DNA analyzed with direct-to-consumer genetic genealogy tests more than doubled during 2017 and now exceeds 12 million, according to industry estimates” ( 5). In 2016, one study identified 246 different companies who offered some form of an online DNA test, where 74 companies (roughly 30%) offered ancestry services, and 92 (roughly 37%) offered genetic relatedness services ( 4). Direct-to-consumer (DTC) genetic tests, as the name suggests, most often return results directly to the consumer without the involvement of a clinician and this industry has grown rapidly in the past two decades, despite the concerns of clinical geneticists and genetic counselors ( 2, 3). The progressive reduction in the cost of sequencing and genotyping, coupled with the limited demand for clinically-driven testing in the early 2000s led to companies marketing and selling their tests directly to consumers to increase sales ( 1). It may seem surprising now to think that not long ago genetic testing was largely confined to clinical and research contexts.