Center calls for stronger federal regulation of genetic testing

Requests agency to issue proposed regulation to assure quality of genetic tests

The Genetics and Public Policy Center this week called on Mark McClellan, Administrator of the Centers for Medicare and Medicaid Services (CMS), to end years of delay in assuring the safety and accuracy of genetic testing by issuing a proposed rule to create a genetic testing specialty under the Clinical Laboratory Improvement Amendments (CLIA) of 1988. The delay has meant that scientific and technological advances in genetic testing have outpaced the government’s ability to provide adequate oversight, maintains the Center, which was established by The Pew Charitable Trusts through Johns Hopkins University.

CMS, an agency of the U.S. Department of Health and Human Services, administers standards for diagnostic laboratory testing, such as those used for blood sugar, urinalysis, or HIV infection, to ensure that the tests are accurate and reliable and that physical conditions at the laboratories meet certain expectations.

“For more than ten years, federal advisory committees have been calling upon the government to provide more oversight of genetic tests,” the letter to McClellan from the Center notes. CMS responded to the growing sense of urgency to improve genetic testing oversight five years ago by issuing a Notice of Intent of proposed rulemaking that incorporated recommendations from a federal advisory group regarding development of a genetic testing specialty.

“More than five years later, nothing has been issued by (CMS),” the letter says. During the same period, the genetic testing industry has grown dramatically; today, more than 800 genetics tests are available clinically, and many more are in development. “These genetic tests may be the basis for profound life decisions, such as whether to undergo prophylactic mastectomy, terminate a pregnancy, or take a certain drug or certain dosage of a drug,” according to the letter.

Under CLIA, CMS is charged with developing standards for how medical laboratory tests are conducted, the training and proficiency of laboratory personnel, and other standards to ensure the quality of clinical tests. The problem, says Center policy analyst Gail Javitt, an author of the letter, is that CLIA did not include a genetic testing specialty for the then-nascent field of genetic testing as part of its oversight regime.

“The absence of a specialty area for genetic testing with specifically tailored requirements for the now-burgeoning genetic testing industry hampers CLIA’s ability to oversee the quality of genetic testing and adequately to ensure its safety,” she writes. “We urge CMS to take immediate steps to issue proposed regulations for a genetic testing specialty.”

The Center reviewed all the comments that were collected by CMS five years ago in response to the Notice of Intent, Javitt explains. “There were no showstoppers here in terms of issues central to the regulation,” she says. “Rather, we found substantial support for the creation of a genetic testing specialty.” There were specific concerns about a few of the proposed requirements detailed in the Notice of Intent, she explained, but these that could be left out of the final rule without unduly weakening the regulation. “A genetic testing specialty is achievable if it focuses on key quality requirements such as analytic and clinical validity of the tests and proficiency standards for laboratory personnel,” she added.

“The government has been dragging its feet for more than 10 years about improving the quality of genetic testing,” she said. “It’s time to move swiftly to protect the American public and publish a proposed rule.”