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CMS Rejects Citizen Petition to Add Genetic Specialty to CLIA, Says Cost Is Main Barrier

Nearly one year after three non-profits petitioned the Centers for Medicare and Medicaid Services to create a genetic specialty under the Clinical Laboratory Improvement Amendments, the agency has concluded that existing quality control guidelines can sufficiently ensure the safety of genetic tests and adding new directives would be too costly.
Last September Johns Hopkins University’s Genetics & Public Policy Center, Public Citizen, and Genetic Alliance filed a Citizen Petition asking CMS to strengthen its oversight of genetic tests by creating a genetic testing specialty [see PGx Reporter 09-27-2006]. In its response, delivered 11 months later, CMS said it has “carefully considered” the petition and has “concluded that the arguments and supportive evidence do not justify rulemaking to establish a new genetics specialty under CLIA at this time.”
Creating a genetic testing specialty under CLIA would be a step toward making proficiency testing mandatory for all CLIA-certified laboratories — a requirement that would be too expensive to meet, according to the agency.
CMS, which last year said it would create a specialty area for genetic tests but changed its mind soon after, didn’t offer an estimate for how much it would cost to develop a genetic specialty. Regardless, GPPC slammed the agency for what it considers choosing cost over public safety.
“CMS has abdicated responsibility for ensuring the quality of genetic tests and has erroneously placed cost considerations above the public’s health,” GPPC Director Kathy Hudson said in a statement released after CMS issued its decision in August. “The letter uses the word ‘cost’ repeatedly, but not once does it mention health and safety. That’s astounding for an agency charged with protecting patients by ensuring laboratory quality.”
GPPC is reviewing its options and plans to offer its expertise to the HHS Secretary's Advisory Committee on Genetics Health and Society and to Congress, two entities that are separately considering methods to ensure the safety of genetic tests, GPPC Law and Policy Director Gail Javitt told Pharmacogenomics Reporter this week in an email.
CMS’ Reasons
To support its decision, CMS cited an order in its mandate that says “each agency must ‘adopt a regulation only upon a reasoned determination that the benefits of the intended regulation justify its costs,’ and then ‘tailor its regulations to impose the least burden on society … consistent with obtaining the regulatory objective …’”
A CMS official in June hinted that the agency might make such a decision [see PGx Reporter 06-13-2007] arguing that there is currently no genetic testing specialty because it will not provide clinical validity; solve proficiency testing and quality control issues; address the ethical, legal, and social implications of genetic testing; or tackle direct-to-consumer marketing issues.
The official, CMS Division of Laboratories Director Judith Yost, had added that creating a genetic testing specialty will disrupt the existing infrastructure and lock labs into outmoded standards in a rapidly evolving field.
Reviewing the Citizen Petition, CMS found that petitioners failed to establish that the absence of a genetic specialty “is the principal or even a central reason” that proficiency testing is not more widespread in genetics.
According to the agency there are approximately 16 proficiency tests, but more than 1,000 genetic tests. The agency sees the lack of proficiency testing as a technological and financial issue, and does not feel that a genetic specialty would stimulate the development of proficiency tests.
“Since public funding does not pay for the costs of proficiency testing, the expense of developing and administering a proficiency test must be recouped by charges levied upon laboratories that undergo testing,” CMS reasons.
In the agency’s view, since a small number of labs will seek proficiency tests for any given genetic test, and because the time frame for developing a proficiency test exceeds the time it takes to bring a genetic test to market, there is no financial incentive for creating a national PT infrastructure.
Further supporting its decision, CMS cites its experience developing national proficiency testing standards for Pap smears. Although proficiency testing for Pap smears was required under CLIA and a cytology specialty was already available, “CMS could not mandate this proficiency testing due to the lack of a program with sufficient materials to provide widespread test availability.
“Despite strenuous efforts by CMS and the Centers for Disease Control and Prevention, no nationwide cytogynecological proficiency testing became available until 2005, almost 17 years after passage of CLIA,” the agency said in its August letter.
Currently, the agency feels that the most cost-effective approach to establishing the safety of genetic tests is through partnerships between professional and public organizations to have more stringent quality control and develop new proficiency tests.
CMS has also stated that it intends to collaborate with other federal agencies, namely CDC, FDA, NIH, and the Federal Trade Commission, as well as professional associations, to develop additional proficiency tests, to evaluate analytical test validation of laboratory-developed tests, and to ensure effective oversight of genetic tests.
The agency also intends to work with the Clinical Laboratory Standards Institute to develop guidelines on molecular and genetic testing, and collaborate with the CDC to provide better information to surveyors and laboratories on its website about genetic tests.
The Rebuttal
As a petitioner, the GPPC took issue with several reasons CMS gave for its decision. Mainly, GPPC rejects CMS’ conclusion that the barriers to proficiency testing are “technological and financial” rather than regulatory. Instead, GPPC feels that more proficiency testing would be available for more genetic tests if laboratories were required by CMS to enroll them.
“At a time when the FDA, expert advisory groups, Congress, and the public have focused increasing attention on critical gaps in the oversight needed to ensure the quality of genetic tests, CMS has turned a blind eye to its responsibilities,” GPPC’s Hudson said in a statement.

“The letter uses the word ‘cost’ repeatedly, but not once does it mention health and safety. That’s astounding for an agency charged with protecting patients by ensuring laboratory quality.”

In Hudson’s view, CMS already has the authority under CLIA to create a genetic testing specialty but has “refused to act. … A clear directive from Congress could break this impasse.”
Having failed in its attempt to petition CMS to make a change independently, the GPPC may instead seek to urge Congress to force the agency to create a genetic specialty. “Certainly we will continue to focus on the importance of PT for genetic testing laboratory quality,” Javitt told Pharmacogenomics Reporter. “Currently the SACGHS and Congress are considering the issue and, in the short term, we will be providing our expertise to them.”
Peter Lurie, deputy director of the government and industry watchdog Public Citizen, also a petitioner, added that “the agency is using its own history of bureaucratic ineptitude as the basis for not moving forward on genetic tests. That’s just absurd.”
By citing how long it took to establish national proficiency testing for Pap Smears, the agency is giving “the excuse ‘it’s too hard for us,’” Lurie added. Such an excuse “is unacceptable when it comes to patient safety.”
According to the GPPC, Genetic Alliance, and Public Citizen, CMS’ response rejects recommendations of other federal agencies that describe a need for a genetic testing specialty.
In addition, GPPC’s 2006 survey of directors for genetic testing laboratories found that labs don’t always enroll in proficiency testing, and that there is an inverse relationship between the amount of proficiency testing a lab performs and the errors that the lab experiences in its testing processes.
GPPC’s survey also found that “a majority of genetic testing laboratories support the creation of a genetic testing specialty, which is a means to get enhancements to CLIA such as mandated PT,” Javitt told PGx Reporter this week. There is some disagreement in this regard since CMS’ Yost asserted that the need for a genetic specialty is not established by survey data, and there is no solidarity within the laboratory community regarding the issue.
Evolving Regulatory Landscape
CMS’ decision against requiring proficiency testing for genetic tests comes at a time when other federal agencies and Congress are looking to increase oversight of gene-based diagnostics.
For instance, the FDA has said that it, and not CLIA, should regulate in vitro diagnostic multivariate index assays, and has issued a draft guidance outlining its arguments [see PGx Reporter 08-01-2007].
Additionally, there are currently two bills under consideration in Congress that aim to increase federal oversight of genetic tests: Illinois Senator and Democratic presidential candidate Barack Obama’s “Genomics and Personalized Medicine Act of 2006” and Senator Edward Kennedy’s (D-Mass.) “The Laboratory Test Improvement Act.”
Obama has also recently introduced an amendment to the pending Prescription Drug User Fee Amendments of 2007 (S. 1082) that would allocate federal funds to study the safety of genetic tests [see PGx Reporter 06-06-2007].

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