As in many areas of our lives, the COVID-19 pandemic has impacted the at-home genetic testing market. People are thinking about their health more than ever. When confronted with their care choices, they are more clearly seeing a need for a healthcare overhaul and recognizing the value of non-traditional options. As a result of these shifting perspectives, the consumer-initiated genetic testing (CIT) market steps up as a viable option for those interested in proactively learning about their genetic contributions to disease.
The interest in at-home testing has been demonstrated by the mass uptake of direct-to-consumer (DTC) genetic tests, evidenced by the interaction every genetic counselor reading this has probably experienced when friends, family members and neighbors ask, “So what do you think about 23andMe?” However, CIT seems to be less well understood by the public and healthcare professionals alike. What sets the CIT oﬀerings apart from DTC tests are clinical oversight of the entire testing process, personal and family medical history intake, condensed pre-test counseling through direct patient outreach, physician review for approval, and 1:1 post-test genetic counseling. By design, a DTC product bypasses clinicians to increase access to genetic information. CIT weaves in clinician involvement and support throughout the process, while also increasing access beyond the clinic.
Having said that, it is important for consumers to be discerning in their CIT choices, including technology used, validation completed and clinical support oﬀered. The company I work for has a rigorous review process when determining whether to support a particular laboratory test that involves a thorough review of the analytical and clinical validity of the test, availability of consumer-friendly education and reporting, and appropriate lab experience and certification. We support testing for high-coverage NGS panels from CLIA-certified labs, reporting on evidence-based, actionable pathogenic and likely pathogenic results. Potential diagnoses include a pharmacogenomic result which can assist a physician with prescribing an eﬀective medication after years of medication failure, the discovery of a pathogenic variant in BRCA2 without a known family history of cancer, or a vague family history of sudden death finally being made clear when a pathogenic variant in MYBPC3 is uncovered. A validated CIT report is a real finding, with real health implications. While clinical confirmation is still an important step for patient follow-up, the finding should not be equated with analysis of raw data which we know is riddled with inaccuracies.
CIT increases access to cost-eﬀective testing at home. It allows for clinically valid results to reach people who may be in regions of the country where fewer genetics services are available. While we have seen a variety of orders from consumers across the country, similar to many areas of genetics, our cohort is lacking in diversity. A demographic review of consumers in 2019 showed that 71% were white. This is a challenge that may improve through investigating and combating barriers to CIT for non-white populations, such as meeting people where they are in the community with purposeful education in appropriate languages, providing equitable access, ensuring that cost is not a limiting factor and demonstrating diversity in our team.
CIT is an invitation for a person to play a proactive role in their own health. The support of genetic counseling to better understand the implications of the result and appropriate next steps arms them for a productive discussion with their physician around proactive screening and management once the result is confirmed. A recent study by our group showed increased levels of empowerment after genetic counseling to review CIT test results as compared to a patient-friendly report alone. It is extremely important for patients to feel empowered outside of the clinic to encourage results to turn into action and improve health outcomes.
As individuals become more interested in their genetic health, the CIT model oﬀers a population level health intervention. The value of providing clinical oversight and genetic counseling support for at-home genetic tests allows for expansion into new areas of testing that have the capacity to revolutionize care. Preconceived notions within the healthcare system of the at-home testing market can be overcome through collaboration and a deeper understanding of what that market consists of and can oﬀer. Together, genetic counselors in clinics, labs and alternative service delivery models can serve our exponentially growing patient population with expertise and compassion.