State of play in direct-to-consumer genetic testing for lifestyle-related diseases: market, marketing content, user experiences and regulation

Abstract

Direct-to-consumer (DTC) genetic tests have aroused controversy. Critics have argued many of the tests are not backed by scientific evidence, misguide their customers and should be regulated more stringently. Proponents suggest that finding out genetic susceptibilities for diseases could encourage healthier behaviours and makes the results of genetics research available to the public. This paper reviews the state of play in DTC genetic testing, focusing on tests identifying susceptibilities for lifestyle-related diseases. It will start with mapping the market for the tests. The paper will review (1) research on the content of the online marketing of DTC tests, (2) studies on the effects of DTC genetic tests on customers and (3) academic and policy proposals on how to regulate the tests. Current studies suggest that the marketing of DTC genetic tests often exaggerates their predictive powers, which could misguide consumers. However, research indicates that the tests do not seem to have major negative effects (worry and confusion) but neither do they engender positive effects (lifestyle change) on current users. Research on regulation of the tests has most commonly suggested regulating the marketing claims of the companies. In conclusion, the risks and benefits of DTC genetic tests are less significant than what has been predicted by critics and proponents, which will be argued reflects broader historical trends transforming health and medicine.

A market in the making: the past, present and future of direct-to-consumer genomics

“…In this respect studies on the effects of DTCGT on consumers have found the tests to have null effects (for a synthesis, see Saukko 2013): consumers in these surveys do not interpret DTCGT genetic tests deterministically (Kaphingst et al 2012); they do not suffer longterm anxiety, but neither do they adopt healthier behaviors (Bloss, Schork, and Topol 2011;James et al 2011). A qualitative study of early adopters in the USA found them to be interested in health but aware of the limitations of the tests (McGowan, Fishman, and Lambrix 2010), and a study of Finnish consumers found them to be interested in genetics but also skeptical about the tests, or making sense of them through alternative interpretive frameworks, such as religion (Ruckenstein 2017).…”

Using a Historical Lens to Envision the Next Generation of Genomic Translation Research

“…predictive vs. susceptibility testing). A series of manuscripts analyzing the content of the health-related DTC genetic testing websites [75,76,77] found that text was written at a reading skill well above the level of US adults [75]. …”

Personal Genomics in Greece: An Overview of Available Direct-to-Consumer Genomic Services and the Relevant Legal Framework

“…Some consumers would make other choices regarding the provider of the test, if the online information was comprehensive [18]. …”