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The issue of genetic regulation re-emerged in September 2006 when the FDA published draft guidance that regulates a specific type of LDTs known as In Vitro Diagnostic Multivariate Index Assays (IVDMIAs), which employ algorithms that are proprietary in nature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.   The FDA may release a final IVDMIA guidance in 2010.

To get more information on genetic testing and LDT oversight, please visit the following Web sites:

Federal Regulations

• February 1992 CLIA'88
• July 2007 Revised IVDMIA Guidance
• September 2007 Revised FDA ASR Q & A

Government/Advisory Committee Reports

• June 2000 SACGT Genetics Oversight Recommendations
• June 2006 GAO Report on Nutrigenetic Testing
• April 2008 SACGHS Final Report Genetics Oversight

AACC Position Statements

• 08/20/07  AACC submitted comments on the July 26, 2007 draft of the FDA's In Vitro Diagnostic Multivariate Index Assays Guidance.
• 06/19/07 AACC wrote to Senator Obama expressing concerns regarding S.976, the Genomics and Personalized Medicine Act of 2007.
• 05/23/07 AACC wrote to Senator Edward Kennedy (D-MA) expressing its concerns about S.736, the Laboratory Test Improvement Act.
• 03/05/07 AACC submitted comments to the FDA regarding its ASR Frequently Asked Questions guidance.
• 02/13/07 AACC submitted comments to the FDA regarding the FDA IVDMIA draft guidance.
• 07/15/03 AACC submitted comments to the FDA regarding its draft guidance, entitled Multiplex Tests for Heritable DNA Markers, Mutations and Expression Patterns; Draft Guidance for Industry and FDA Reviewers.
• 05/16/01 An AACC initiated coalition writes to HHS Secretary Tommy Thompson urging the agency to reconsider the FDA's involvement in genetic testing.
• 01/31/01 AACC provides comments to SACGT regardings its proposed template of essential information for health care professionals ordering genetic tests.
• 01/25/01 AACC provides comments to SACGT regarding its proposed testing methodology for regulating genetic testing
• 06/22/00 AACC submits comments to CDC regarding CLIA regulation of genetic testing.
• 05/22/00 AACC submits comments to SACGT regarding additional federal oversight of genetic testing.
• 01/27/00 AACC submitted comments to the Secretary's Advisory Committee on Genetic Testing regarding federal oversight of genetic testing.
• 03/10/97 AACC's comments on NIH Task Force on Genetic Testing's recommendations.

• March 15, 2007 IVDMIA audioconference