Lax Oversight of Genetic Tests

WASHINGTON, D.C. — Better oversight of genetic testing laboratories by the Centers for Medicare and Medicaid Services (CMS) is “critical to ensuring the quality of genetic testing in the United States,” and failure to provide it “poses a risk to the public's health,” according to a Petition for Rulemaking submitted today to CMS Administrator Mark McClellan by the Genetics and Public Policy Center, Public Citizen, and Genetic Alliance. “The promise of genetics to improve health and healthcare will not be realized unless laboratories performing genetic tests provide accurate and reliable test results,” the petitioners declare. They call upon CMS to create a “genetic testing specialty” that would establish regulations tailored to genetic testing laboratories under the provisions of the Clinical Laboratories Improvement Amendments of 1988 (CLIA), which CMS administers.

“Making sure that laboratories can accurately and reliably perform genetic tests is a fundamental requirement for the success of genetic medicine, and a fundamental obligation of CMS,” says Kathy Hudson, director of the Genetics and Public Policy Center.

Congress enacted CLIA to ensure that laboratories performing millions of tests on patient samples every year provide accurate and reliable results. At the time CLIA took effect, genetic testing was in its infancy; today, it is an integral part of clinical medicine and among the fastest-growing areas of laboratory testing. Clinical tests are available for about 1,000 genetic conditions, and these tests are having an increasing impact on public health through improved diagnosis, treatment, and prevention of disease, the petition explains.

The petition points to nearly a decade of inaction on the part of CMS in developing a genetic specialty, despite numerous calls by government advisory bodies and expert committees to do so. In 2000, the government announced its intent to issue a proposed rule for a genetic testing specialty. Public comments on the notice of intent were solicited and more than 50 were received, but no further regulatory action occurred for the next five years. In April 2006, the Department of Health and Human Services placed issuance of the proposed rule on its regulatory agenda for completion by November, and many organizations – including the Genetics and Public Policy Center – received assurances that CMS would finally create a genetic specialty under CLIA.

In July 2006, however, CMS reneged on those assurances in communications with Genetic Alliance, and shortly after in discussions with the Genetics and Public Policy Center, the petitioners say. CMS now says that current regulations are adequate and that no genetic testing specialty is needed. The petition lays out the case that better safeguards are authorized by CLIA, that errors in genetic testing can and have had tragic consequences, and that CMS has set standards for most other complex tests performed by diagnostic laboratories. In the absence of genetic testing standards, laboratory practices are widely divergent and often substandard, according to research conducted by the Genetics and Public Policy Center.

“Congress expected, and the public expects, CMS to do its job: guarantee the quality of laboratory genetic testing,” Hudson explains. “We expect CMS to live up to its promises and fulfill its obligations to safeguard public health.”

The Genetics and Public Policy Center is an independent, nonpartisan source of information about public policy related to human genetic technologies, and is supported at the Berman Bioethics Institute of Johns Hopkins University by The Pew Charitable Trusts. Public Citizen is a consumer group comprising approximately 100,000 members nationwide that, through its Health Research Group, advocates for the interests of consumers in health care policy. Genetic Alliance provides leadership and infrastructure development for more than 600 disease-specific advocacy organizations, representing more than 1,000 genetic conditions affecting more than 25 million Americans.