In recent years, third-party genetic interpretation services have emerged to help individuals understand their raw genetic data obtained from researchers, clinicians, and direct-to-consumer genetic testing companies. The objectives of these services vary but include matching users to genetic relatives, selling customized diet and fitness plans, and providing health risk assessments. As these services proliferate, concerns are being raised about their accuracy, safety, and privacy practices. Thus far, US regulatory agencies have not taken an official position with respect to third-party genetic interpretation services, which has caused uncertainty regarding whether and how they might be regulated. To clarify this area, we analyzed their potential oversight by four US agencies that generally have been active in the regulation of genetic testing services and information: the Centers for Medicare and Medicaid Services, the Food and Drug Administration, the Department of Health and Human Services’ Office of Civil Rights, and the Federal Trade Commission. We conclude that the scope of federal jurisdiction over third-party genetic interpretation services—while limited—could be appropriate at this time, subject to agency clarification and appropriate exercise of oversight.'Direct-to-consumer raw genetic data and third-party interpretation services: more burden than bargain?' by Tia Moscarello, Brittney Murray, Chloe M. Reuter and Erin Demo in (2019) 21 Genetics in Medicine 539–541 comments
The latest response to consumers’ increased demand for accessible genetic health information is the US Food and Drug Administration (FDA)’s recent approval of 23andMe’s direct-to-consumer (DTC) genetic test for the three common BRCA1 and BRCA2 pathogenic variants found in the Ashkenazi Jewish population.1 23andMe and other DTC genetic testing companies officially report out ancestry, trait, and some health information, while also providing consumers with files of their raw genetic data. Up to 62% of consumers use third-party applications to interpret the raw data and health information not included in companies’ reports. Little data exists on the nature and prevalence of clinical follow up of third-party raw genetic data interpretation, nor on the psychosocial impact on the consumer and their families. This information is of timely importance as a recent study suggests that 40% of genetic variations within DTC raw data sent for clinical confirmation are false positives. This raises many questions about the impact of DTC genetic testing and third-party interpretation tools, including the appropriate use of healthcare resources, clinical utility, provider and patient understanding of limitations, and psychological impact on consumers. In this commentary, we present four case vignettes from cardiovascular genetics clinics to bring awareness to possible harms of DTC raw data interpretation. Future studies investigating the breadth and frequency of cases such as these are required to understand the scope of this harm.The authors offer a 'Call to action', stating
As the demand for DTC genetic testing grows and the availability of raw data interpretation tools remain available, we anticipate the consumer themes illustrated above are likely to increase. While DTC genetic testing can empower patients to learn about some medically actionable genetic risk, there are also clear limitations of and misconceptions surrounding such testing. xxx The medical utility of DTC genetic testing is low, but even our limited experience demonstrates that it is placing a burden on the healthcare system to (1) clinically confirm these genetic results and (2) confirm that a patient does not have a clinical diagnosis of the disease associated with the reported SNP. The recommendation that all results obtained from the raw genetic data of DTC tests need to be clinically confirmed5 and recent data on false-positive rates indicate that almost half of consumers seeking clinical confirmation of their genetic testing results would be a waste of healthcare dollars.
There is limited research on what consumers do with the interpretation of their raw genetic data. Recent studies suggest that 20–30% of consumers share DTC genetic testing results, including raw data interpretation with one or more healthcare providers. However, despite its clear medical importance given the propensity for false positives, it is not known how many consumers seek a clinical evaluation for the conditions associated with the identified SNP(s), or clinical confirmation of the identified variants. It is also unclear how many healthcare providers sustain misconceptions about the validity of these results. To better understand the prevalence and extent of such outcomes, more research is needed to understand the patient experience and possible harms of receiving raw data interpretation results. To inform policy, future studies should investigate the frequency of these outcomes. Both the clinical and consumer genetics communities must collaborate to ensure consumers have access to valid data and correct interpretations of it. Studies exploring the education, support, and medical care surrounding DTC genetic testing and third-party raw data interpretation are needed to minimize harms to patients and reduce unnecessary costs to the healthcare system.