Pew Funds Genetics and Public Policy Center's New Consumer Genetics Project
The Pew Charitable Trust has awarded $750,000 to the Genetics and Public Policy Center for a new project focused on consumer protections for applications of genetic testing.
Purpose and Analysis
Purpose
This paper reviews the comments submitted in response to the NOI and identifies areas of consensus as well as areas of concern and opposition. It finds that there was support for key recommendations in the NOI, and recommends that CMS issue a proposed rule that focuses on these key issues, while leaving aside those that were more controversial and arguably less central to ensuring laboratory quality. Before reviewing the comments, however, it is necessary to place the NOI within the overall history and purpose of CLIA and the regulation of laboratory tests more generally.
History
Concern about the quality of clinical laboratory testing arose long before the launch of the Human Genome Project. In response to widespread misreporting of Pap smear results, Congress enacted the Clinical Laboratory Improvement Amendments (CLIA) of 1988. In enacting CLIA, Congress gave CMS broad power to ensure that laboratories have the right facilities, personnel, and standards in place to ensure quality testing. Pursuant to CLIA, CMS established “specialty areas” for several types of testing, including (1) microbiology; (2) immunology; (3) chemistry; (4) hematology, and (5) pathology. The creation of a specialty area is a necessary step in the development of specific and tailored requirements for a particular category of testing, particularly testing that is complex to perform or interpret.
Perhaps because genetic testing was in its infancy at the time CLIA was enacted, CMS did not initially establish a genetic testing specialty. However, CLIA requires CMS to develop regulations to ensure the quality and safety of all clinical laboratory testing. To be sure, CLIA’s general requirements for laboratory quality, such as general obligations to have appropriately trained personnel, establish quality control procedures, and engage in proficiency testing, do apply to laboratories performing clinical genetic testing. However, the absence of a genetic testing specialty with specifically tailored and ensure the quality of a laboratory’s testing. 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. Many laboratories do follow the proficiency testing programs established by professional organizations, but such programs are voluntary and, moreover, are available for only a small number of genetic tests.
Indeed, concerns that the general provisions of CLIA were inadequate to ensure the quality of genetic testing led to recommendations for the creation of a genetic testing specialty. In May 2000, the CDC published a NOI in the Federal Register requesting public comment on the recommendation to create a genetic specialty under CLIA. The NOI specifically requested feedback on:
- The definition of genetic testing;
- The role of the laboratory director in documenting clinical validity;
- Who should be authorized to order a genetic test;
- Whether the laboratory should be responsible for documenting a patient’s informed consent;
- Whether additional procedures are needed to protect patient confidentiality;
- Whether more stringent personnel qualifications were needed to ensure genetic test quality; and
- Whether the recommended additions to the general requirements for preanalytic, analytic, and postanalytic phases of testing were appropriate.
Review and Analysis of NOI Responses
The CDC received 57 responses to the NOI. Respondents included academic laboratories (20), professional organizations (18), state and federal government agencies (8), commercial laboratories (5), manufacturers/industry (5), trade organizations (2), and other miscellaneous groups or individuals (2).4
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