Growing Calls in United States, Europe to Improve Regulation of Genetic Testing

Abstract

ALTHOUGH THE NUMBER OF GEnetic tests available has exploded in the past decade and a half, clinicians and patients are often on their own to try to assess whether such tests might help improve care. Tests were available for only about 100 genetic diseases in 1993, a number that soared to more than 1700 in 2008, according to GeneTests, a resource operatedby theUniversityofWashingtonand funded by the National Institutes of Health that includes information on genetic tests (http://www.ncbi.nlm.nih.gov /sites/GeneTests/). But governments in the United States and Europe provide limited oversight of such tests, and there is inadequate evidence on the extent to which genetic tests improve patient care. Suchconcernshave led tocalls for enhancedregulationofgenetic tests,andrecent actions suggest growing consensus amongsomegovernmentalagencies,nonprofitorganizations,andcommercialclinical laboratories that action is needed. The current regulatory framework is complex. The US Food and Drug Administration (FDA) requires a premarket review of test kits sold to outside laboratories, but so far it has not required such premarket review for tests that are made by a laboratory for its own use. The Centers for Medicare & Medicaid Services (CMS) provides some oversight for quality of clinical laboratory testing under the Clinical Laboratory Improvement Amendments (CLIA) of 1988. There are also some voluntary certification and oversight programs operated by professional organizations. The American College of Medical Genetics (ACMG) offers both technical and clinical guidelines, which laboratories may choose to follow. InanApril2008reportbyanadvisory committee to theSecretaryof theUSDepartment of Health and Human Services (DHHS)reviewedandpointedoutmany flaws in this system of oversight (http: //oba.od.nih.gov/oba/SACGHS/reports /SACGHS_oversight _report.pdf). The committee identified gaps in the regulation of laboratory quality and test validity, inadequate transparency about testing, insufficient knowledge about the whether the tests are clinically useful, and a lack of education among clinicians and consumers about such tests. It also outlined recommendations for improvement. Now there is a growing chorus of individuals, advocacygroups,government agencies,andcommercialgroupswhosay thatthispatchworkofoversightdoesadisservicetoall stakeholdersandmustberevamped.ManyofthecallsurgeimplementationofstepsrecommendedintheDHHS committee’s report. In April, the Genetics and Public Policy Center at Johns Hopkins University, the Coalition for 21st Century Medicine—a group that represents genetic testing companies and other groups—and more than 100 patient advocacy groups, genetic test manufacturers, and other interested parties sent a letter to the newly appointed DHHS Secretary, Kathleen Sebelius, calling on her to revamp regulation of genetic tests. “Accurate, reliable, and timely advanced diagnostics offer enormous promise, but poor quality testing can harm patients and waste scarce resources,” according to the letter. The letter calls for government oversight of all genetic tests, including those created and used by the same laboratory, prioritized according to the potential risk associated with a test. It also urged establishment of a mandatory national registry of laboratory tests and stronger regulation of testing laboratories, to ensure test accuracy.