Regulation of Genetic and Laboratory-Developed Tests
Over the past decade, there have been various attempts to expand federal oversight of genetic testing. Since most genetic tests are laboratory-developed tests (LDTs), these two issues have become intertwined. (LDTs are assays developed by the laboratory, which are for internal use and are not sold to outside entities.) Although laboratory-developed genetic tests are regulated by CMS under CLIA’88, and are part of the accreditation inspection processes, they are not subject to FDA 510(k) or PMA requirements. The FDA currently regulates genetic tests sold as kits and the analyte specific reagents (ASRs) used to ‘make’ genetic LDTs.
The issue of genetic regulation re-emerged in September 2006 when the FDA published draft guidance that regulates a specific type of LDTs known as In Vitro Diagnostic Multivariate Index Assays (IVDMIAs), which employ algorithms that are proprietary in nature and report a result that cannot be easily interpreted by a well-trained health care practitioner. This new policy is very controversial as a number of clinical laboratories and practitioners have expressed concerns about the potential impact of this new policy on innovation and patient access to cutting edge technologies. The FDA held a public forum on this issue in February 2007 and released a revised guidance in this area in July 2007.
In the legislative realm, there have been two bills introduced pertaining to the regulation of LDTs. The first and more comprehensive is S.736, the Laboratory Improvement Act, introduced by Senator Edward Kennedy (D-MA), which would require laboratories performing LDTs be registered with the FDA and submit data demonstrating the analytical and clinical validity of the tests. Although the intent of the legislation was to address a number of direct-to-consumer genetic tests, the impact of the bill is much broader--affecting any test performed by a laboratory that was not purchased as part of a test system or as an individual test kit. To date, the Senate has not taken action on this measure.
A second bill, S.976, the Genomics and Personalized Medicine Act, introduced by Senator Barak Obama (D-IL), takes a much narrower approach, proposing an Institute of Medicine study to gather and evaluate data on LDTs and make recommendations regarding appropriate oversight. Senator Obama succeeded in including a provision in H.R.3580, the Food and Drug Administration Act of 2007 (the bill reauthorizing the FDA medical device user fee), which would require an Institute of Medicine study to:
“assess the overall safey and quality of genetic tests and prepare a report that includes recommendations to improve Federal oversight and regulation of genetic tests,”
if the Secretary’s Advisory Committee on Genetics, Health and Society (SACGHS) fails to complete a planned report on this topic by July 2008. SACGHS completed their study before the deadline, thus negating the legislative provision.
To get more information on genetic testing and LDT oversight, please visit the following Web sites:
Federal Regulations
Legislative Proposals
Government/Advisory Committee Reports
AACC Position Statements
AACC Programs