Armed with clinical data suggesting that genetic testing should have federal oversight, three nonprofit groups this week asked the Centers for Medicaid and Medicare Services to resume its plan to regulate such tests under the Clinical Laboratories Improvement Act rules after it said in August it would end its plan to start a genetic testing specialty.
Declaring that they “believe this action is required under CLIA,” the Genetics and Public Policy Center, the Genetic Alliance, and Public Citizen this week filed a formal petition asking CMS to create a genetic testing specialty.
“This is consistent with what we have asked for in the past,” Gail Javitt, law and policy director for the GPPC, told Pharmacogenomics Reporter this week. “What’s new is [that] we now have some data … that demonstrates the importance of proficiency testing, not in an abstract way, but in a more concrete way.”
Creating a genetic testing specialty is a step toward proficiency-testing standards for genetic tests that would have to be met by all CLIA-certified laboratories performing them. While creating the specialty would mean a greater regulatory burden in some sense, the three nonprofits argue in their petition that a recent survey of clinical laboratory directors supports the notion that oversight would serve public health.
The petition includes information from an article reporting the results of a GPPC survey of laboratory directors that appears in this month’s Nature Biotechnology.
The survey is based on 190 completed questionnaires from labs that perform molecular or biochemical genetic testing and return results to patients.
The petition mentions three key points from the survey that support installing proficiency testing for clinical lab tests in general, and argues that mistakes in genetic testing are probably causing harm.
The survey shows there is a correlation “between doing proficiency testing, getting deficiencies, and reporting incorrect test reports,” said Javitt.
First, the survey found that 35 percent of respondents offer some tests for which they perform no proficiency testing. Second, the survey found that 16 percent of labs that do not carry out proficiency testing for all tests reported multiple deficiencies in proficiency testing, compared to 2 percent of labs that do proficiency testing on all tests.
Third, the survey linked these deficiencies with the annual number of reported lab errors: 60 percent of labs that reported multiple proficiency deficiencies said they had issued four or more incorrect test reports in the past two years, compared to 35 percent of labs reporting no deficiencies.
Laboratories answered that they didn’t perform proficiency testing for a variety of reasons, including the lack of appropriate evaluation programs in the area and satisfaction with in-house methods, said Javitt.
According to at least one molecular diagnostic company, possible regulatory burdens resulting from a CLIA genetic testing specialty include more paperwork and the collection of patients’ informed consent. Complying with new standards is not a big concern, Matt Watson, CEO of CombiMatrix Molecular Diagnostics, said in March.
Now You See It, Now You Don’t
In March, a CMS official told Pharmacogenomics Reporter sister publication GenomeWeb News that a genetic testing specialty amendment was in clearance at the agency.
But early last month CMS told GPPC that it had abandoned its “long-stated intent to create a specialty, and that current regulations are adequate to ensure the accuracy and reliability of genetic testing laboratories,” according to the petition.
CMS is required by law to respond to the petition within 180 days from the date it was filed, which was Sept. 26. Should the agency take longer, the three nonprofits have the right to sue the agency, although that action seems unlikely, said Peter Lurie, deputy director of Public Citizen’s health research group.
“If they do make a decision and you’re unhappy with it, you can challenge the decision [through a lawsuit] on its merits; that’s where this could lead,” he said.
But a lawsuit is not what the three organizations are looking for. “What we really hope is … for them to go ahead” and create a genetic testing specialty, in light of CMS’ previous movement in that direction, said Sharon Terry, CEO of Genetic Alliance, a patient advocacy group focused on particular genetic diseases.
A spokesperson for CMS said this week that the agency was not ready to comment on the petition. The CLIA Committee, a part of the Centers for Disease Control and Prevention that oversees some aspects of CLIA labs, was not able to comment before deadline for this article.
The CLIA Committee first announced the government’s intent to create a genetic specialty with a 2000 Notice of Intent in the Federal Register, according to GPPC.
The arrival of pharmacogenomic testing as routine clinical care sometime in the near future will make greater oversight of genetic tests absolutely necessary, said Javitt.
“Pharmacogenetics potentially opens every one of us up for genetic testing” whereas genetic testing was once mostly reserved for particular situations and rare conditions, she said. “That’s many, many, many more [potential] genetic tests out there,” said Javitt. “We’re concerned that the regulatory environment is just not robust enough right now to ensure that those tests are accurate and reliable.”
“People with genetic diseases need access to tests that are reliable so that we can get on to the next phases, [such as] therapies and treatments,” said Genetic Alliance’s Terry.
The alliance plans to hold a forum of advocates later this year who will listen to experts, industry representatives, and others to come up with a set of regulatory recommendations for CLIA that will ensure reliability and safety, while not discouraging innovation.
Public Citizen “see[s] this as a relatively unregulated area — particularly given the number of tests and the potential consequences of inaccurate results,” said Lurie.
The group hopes to convince CMS that it has treated genetic testing differently from other types of high-complexity testing, which have all been addressed through creation of a specialty, he added.