Affiliations: Business Development, Cepheid, 904 Caribbean Drive, Sunnyvale, CA 94089, USA | NIST Division of Biochemical Sciences, Chemical Sciences and Technology Laboratory, National Institute of Standards and Technology, Gaithersburg, MD, USA
Abstract: The majority of genetic tests done today are completely home brew assays. A few of the more common tests are based on ASR level reagents. To date the only genetic assays that are available as FDA-approved in vitro diagnostic (IVD) kits are for analysis of the Factor V (Leiden) and Factor II (promoter G to A) mutations associated with thrombophilia risk for assessment of cytochrome P450 2D6 and 2C19 polymorphisms and for analysis of mutations in the CFTR gene. In this regard, the lab community has taken the lead in development of standards and controls for genetic tests. As genetic testing enters the mainstream, we expect to see more approvals of IVD kits, and the IVD manufacturing community will take a larger role in providing the control materials for these assays. Commercially run proficiency testing programs are only available for the most common genetic tests. All other tests must use approaches such as sample swapping between labs to fulfill this requirement.
