By the end of 2018, more than 26 million consumers had undergone direct-to-consumer (DTC) genetic testing. These genetic tests promise to identify medically relevant genetic variants, identify a consumer’s genetic heritage, or uncover the identities of long-lost relatives. It remains unclear how consumers will manage the information they acquire from these tests.
They often search for individual genetic variants, arriving at a variety of websites and message boards of questionable accuracy and completeness. This muddies a consumer’s picture of their own health, and can build false expectations about the use of these tests. Perhaps even more troubling is that a number of watchdog organizations have raised alarm bells about DTC testing and privacy concerns. Privacy policies may be intentionally vague, or give companies the right to use consumer test results for research or other purposes.
The Role of Clinical PGx in Managing Patient Expectations
As interest in DTC genetic testing increases, the clinical pharmacogenomic testing community has an important role to play. It must manage patient expectations about the possibilities and limitations of genetic testing, especially DTC genetic testing. DTC tests are entertaining, and often contain useful information, but they are no substitute for clinical tests built on empirical, actionable data.
The shifting landscape of genetic testing at the end of 2018 has clarified the need for greater genetic literacy, and raised important questions about regulation.
Regulatory Progress in 2018
The FDA now allows 23andMe to market a handful of medical genetic tests directly to consumers. However, healthcare providers are explicitly prohibited from using this data. This decision may frustrate consumers, but it ultimately may improve healthcare outcomes by encouraging consumers to seek clinical PGx testing and appropriate counseling from healthcare providers.
As the heavy marketing of DTC tests, including those that address medical issues, increases, primary care will be at the fore of PGx. Consumers may present test data to their primary care providers, necessitating greater genetic literacy in family practice. Consumers are especially interested in testing that may inform preventative care choices. Primary care is ground zero for these discussions, and the right genetic testing strategy can enhance consumer healthcare options.
The Importance of Education
A 2018 article in Genome Biology predicts a tenfold increase in genotyped consumers by 2021, which would mean more than 100 million consumers who have undergone genetic testing. The time for providers to get ahead of the genetic literacy curve is now.
Consumers tend to view genetics as destiny, and may oversimplify the meaning of test results. One example can be found in myriad articles referring to mutations of BRCA1 and BRCA2 as “genes for breast cancer,” suggesting these genes make breast cancer inevitable. The reality is much more complicated, and no single genetic mutation guarantees a cancer diagnosis.
As awareness of DTC testing increases without any concomitant increase in consumer genetic literacy, it is unclear how consumers will respond to genetic testing results. Genetic counseling from providers can help set reasonable expectations and encourage consumers to select only panels that provide actionable data.
Synthesizing and Understanding Genetic Data
Consumers have increasingly become the co-creators of their healthcare data. This role is a valuable one, since information from consumers can inform healthcare decisions. But incomplete or inaccurate information can undermine treatment decisions and testing recommendations. Reliable repositories of healthcare data, especially genetic data, can increase the value of genetic testing and ensure more uniform recommendations across providers and healthcare organizations.
Novel programs such as TSI’s Precision Health Nexus can help clinical organizations access genetic data on a single platform, while placing patients with clinicians who have PGx expertise. These and similar programs set clinical genetic testing apart from entertainment-based DTC consumer testing.