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CMS Does Not Need Genetic Specialty For Molecular Diagnostics, Official Says

Despite efforts by some in the life-sciences industry to increase government oversight of laboratory-developed genetic tests, the Centers for Medicare and Medicaid Services maintains that provisions under the Clinical Laboratory Improvement Amendments of 1988 are sufficient to safely regulate such products.
In a recent web conference hosted by the American Association for Clinical Chemistry, CMS Division of Laboratories Director Judith Yost said 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.
Additionally, she said creating a genetic testing specialty will only disrupt the existing infrastructure and lock labs into outmoded standards in a rapidly evolving field.
CMS, which had previously agreed to create a specialty area for genetic tests, but changed its mind last year, “feels at this time that no specialty is necessary,” Yost told Pharmacogenomics Reporter in an e-mail last week. “At the time the CLIA regulations were published in 1992, genetic testing was just in its early developmental stages and so it was not anticipated. Additionally, the CLIA specialties correspond to Medicare payment structure and categories and there is none there either.”
However, others argue that because the use and variety of genetic tests is growing so rapidly, regulatory bodies should start issuing rules to enforce more stringent evaluation of diagnostics.
Johns Hopkins University’s Genetics & Public Policy Center, Public Citizen, and Genetic Alliance are part of this faction. Last year, these nonprofit organizations 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].
Today, laboratories that perform genetic testing must be certified by CMS under CLIA. Although CMS has “specialty areas,” or tailored regulations, for certain types of complex tests, there is no such program for clinical genetic tests.
According to a GPPC paper, “Creating a Genetic Testing Specialty Under CLIA: What Are We Waiting For?,” although clinical genetic tests are considered to be high complexity, CMS does not contain a specialty area for molecular and biochemical genetic tests, and proficiency testing for such products is currently voluntary.
Creating a genetic testing specialty under CLIA would be a step toward making proficiency testing mandatory for all CLIA-certified laboratories. However, some laboratory test developers are against the idea because it would impose greater regulatory burdens on them.
GPPC Director of Law and Policy Gail Javitt has said that CMS has not yet responded to the Citizen Petition. However, Yost, during her AACC Web presentation, asserted the agency’s stance by saying 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.
Rather, Yost said, the agency is using existing CLIA regs to enhance oversight of genetic tests, making efforts to better train surveyors, working with the US Food and Drug Administration and the Centers for Disease Control to conduct complex site inspections, and enhancing its website to provide publicly available information about laboratory performance.

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Is a Genetic Specialty Unnecessary?

According to Yost, “the overriding reason” for not forming a genetic specialty under CLIA is that “these tests are already covered by CLIA and no definitive data exists to warrant it.” In her AACC presentation, Yost cited data from a CMS survey showing that laboratory performance data over time shows improved performance. She told Pharmacogenomics Reporter in an e-mail that “there was no indication of more problems in one area of testing than another.” (See graph for further details.)
Additionally, by CMS’ own assessments, the laboratory community is not “unanimous” in its desire for a genetic specialty.
However, a GPPC survey conducted last year of 190 completed questionnaires by labs that perform molecular testing showed that nearly 75 percent of laboratory directors support more oversight of genetic testing under CLIA, and more than 90 percent found proficiency testing to be useful in improving genetic testing quality.
The GPPC survey also found a correlation “between doing proficiency testing, getting deficiencies, and reporting incorrect test reports.”
The survey found that 35 percent of respondents offer some genetic tests for which they perform no proficiency testing; 16 percent of labs that do not carry out proficiency testing for all tests reported multiple deficiencies in proficiency testing; and that 2 percent of labs do proficiency testing on all tests.
Additionally, the survey found that 60 percent of labs that reported multiple proficiency deficiencies said they had issued four or more incorrect test reports in the past two years. GPPC’s report found that 35 percent of labs reported no deficiencies.
Under CLIA, CMS established “specialty areas” for different types of testing, including an area for microbiology, immunology, chemistry, hematology, and pathology. These specialty areas have tailored regulatory requirements for that particular type of testing.
“Perhaps because genetic testing was in its infancy at the time CLIA was enacted, CMS did not initially establish a genetic testing specialty,” GPPC said in its paper.
But today tests are commercially available for 1,000 disease settings, and the rapidly advancing field needs more specialized regulatory attention, the groups contend. 
“The absence of a genetic testing specialty with specifically tailored requirements for the now burgeoning genetic testing industry hampers the agency’s ability to ascertain and ensure the quality of a laboratory’s testing,” GPPC said in the paper. “In particular, the absence of a specialty has meant that there are no specific ‘proficiency tests’ that laboratories must perform to show they can reliably get the ‘right answer’ in performing a genetic test.”
Although many laboratories conduct proficiency testing under the aegis of professional organizations, such programs are voluntary and cover a small number of commercially available tests. 

“CMS survey data over time shows improved performance of labs and there was no indication of more problems in one area of testing than another.”

No Pressure
Throughout the 1990s, several government advisory committee reviews determined that a genetic testing specialty was needed, yet no such program has been developed. Following these assessments, CMS even announced in 2000 it would develop a specialty program under CLIA. The CDC, the regulatory body that advises CMS on CLIA, went as far as to develop the framework for a genetic testing specialty and solicited public input for such a program.
Gaining momentum, the HHS in April 2006 placed the genetic testing specialty project on its regulatory agenda with plans for it to be implemented by November 2006. However, in July CMS reneged on its decision.
“With no notice to the public [CMS] abruptly reversed course, deciding not to issue a regulation for a genetic testing specialty … assert[ing] that creating a specialty lacks sufficient ‘criticality’ to warrant rulemaking and that existing regulations are adequate,” GPPC states in its report “Public Health at Risk: Failures in Oversight of Genetic Testing Laboratories.”
What is CMS Doing?
According to CMS’ Yost, although proficiency testing is not mandatory for all genetic tests, laboratories are still subject to accuracy checks twice a year, and for 83 tests proficiency testing is mandatory. Issues surrounding a test’s clinical validity, DTC, informed consent, genetic counseling, and ethical concerns are beyond the purview of CMS, she added.
Additionally, in her presentation materials, Yost outlined CMS’ ongoing and future efforts to train surveyors, work with other regulatory agencies to conduct site inspections, and inform the public about laboratory performance.
Currently, CMS issues guidance to state surveyors, hires experts to train surveyors, publishes educational materials for labs, and works with CDC to design alternative proficiency testing and quality certification mechanisms.
“CMS works in collaboration with CDC and FDA on many CLIA issues,” Yost informed Pharmacogenomics Reporter over e-mail. “Occasionally, during onsite inspections, a surveyor identifies a unique test, perhaps something that is developed by the laboratory and not FDA approved, that requires additional scientific and technical expertise to evaluate. CDC and FDA are assisting CMS with these reviews.”
Additionally, as CMS collects data on genetic testing laboratory performance, the agency is planning to make this data available to the public through enhancements to its Website.

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