Determining the Optimal Approach for Government-Regulated Genetic Testing

Abstract

With recent activity by both the US Food and Drug Administration (FDA)2 and the US Government Accountability Office (GAO), a new era of government-regulated genetic testing is upon us. In the past 10 years, the scope and volume of genetic tests [most falling into the category of laboratory-developed tests (LDTs)] being offered has increased dramatically. Traditionally, genetic tests have been for single-gene disorders, such as cystic fibrosis and Marfan syndrome. In recent years, the scope and complexity of genetic testing has increased, and there has been a shift in emphasis toward predicting disease, especially complex disease. This shift has been mainly due to the arrival of direct-to-consumer (DTC) testing to the genetic-testing market. DTC genetic tests, which have not been under the review of the FDA, are traditionally offered via the Internet and are performed in the manufacturers' accredited laboratories as LDTs. The FDA's first public foray into oversight of DTC genetic testing was in May 2010, after Pathway Genomics, a DTC genetic-testing company based in San Diego, announced the upcoming availability of their personal genetic-testing kits at Walgreens drugstores nationwide. After Pathway's announcement, the FDA promptly sent an enforcement letter to Pathway, in which they declared Pathway's testing kit a medical device, and asked them to respond within 15 days to explain why their test should not require premarket review (1). The FDA followed suit by sending similar letters to 19 additional genetic-testing companies in the following months. In July, the FDA held its 2-day “Public Meeting on Oversight of Laboratory Developed Tests,” at which many genetic-testing companies and genetics organizations participated (2). During this …