Proposed Regulatory Framework for Direct-to-Consumer Genetic Testing: Diagnostics vs. Genetic Screening

To the Editor: On December 6, 2013, 23andMe stopped marketing direct-to-consumer (DTC)1 disease-predictive genetic testing to comply with the FDA's directive (1). Although the FDA's action was intended to protect the American public from questionable disease risk predictions, we believe the agency failed to assess all the benefits of DTC testing. Despite assurances asserting support for consumer genetic testing (2), the FDA's action strongly discourages DTC providers from offering the tests to consumers, undermining the investments the US government has made in the genome project. We list examples where, in our opinion, the FDA's regulatory requirements for the DTC industry are excessive. Is there too much emphasis on the analytical specificity rather than the diagnostic sensitivity of a test? The performance of a genetic test depends on both sensitivity and specificity. Yet the FDA's focus on reproducibility overemphasizes analytical specificity while diminishing the role of diagnostic sensitivity, resulting in a bias toward simplified single-nucleotide polymorphism (SNP) panels. Luminex and Autogenomics have received FDA approval for smaller genotyping panels for cytochrome P450 genes with 4 alleles, and extended panels with 19 alleles have secured European Union In Vitro Diagnostic Directive certification and are marketed in Europe. Reducing the number of markers improves technical replication …