Many DTC (Direct-to-Consumer) tests use a polygenic risk score (PRS) to ESTIMATE that individuals potential disease risk.

The LACK of regulation in the Laboratory Developed Testing (LDT) also extends into a market that targets consumers for “wellness” testing. These tests are perceived as clinical, when the actual results – as well as what data went into the risk score – has NOT been validated or truly vetted. Seasoned professors from Carle Illinois College of MedicineUniversity of Illinois Urbana-Champaign, and Harvard Medical School have been quoted in an article from JAMA, Journal of the American Medical Association published yesterday stating concerns about poorly regulated testing.

“While the FDA has the authority to regulate DTC products, one of the main reasons many PRS-based DTCs go unregulated is that they are marketed as general wellness products, which the FDA claims don’t fall under its purview.”

“They noted concerns about consumers’ misunderstanding of the tests’ accuracy or utility, which could result in poor medical decisions. For instance, consumers might equate their PRSs to a clinical diagnosis or replace a validated, traditional diagnosis for a free, online PRS consultation. For example, they said, a consumer might rely on 23andMe‘s type 2 diabetes PRS risk report over a standard hemoglobin A1C test from a physician.”

“As genomic sequencing and interpretation complexifies, improves, and becomes more akin to software than true laboratory-based tests, a nimble regulatory approach will be key to safeguarding the public health,” they concluded.”


Contact us at CGI to learn more. truth-in-genomics@genomicinterpretation.org or ph +1 (801) 810-4097.