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Executive Summary........... 4
Introduction........... 5
CLIA: Intent and Implementation........... 7
CLIA and Genetic Tests........... 9
Genetic Testing Laboratory Errors........... 14
Opinions on Oversight........... 18
Conclusion: Why a Specialty is Needed........... 19
References........... 20

 

 

The Human Genome Project unleashed a torrent of information about the human genome and the role of genetic variation in human health. As a result, genetic testing is now among the fastest-growing areas of laboratory medicine. Today, genetic tests for about 1000 diseases are clinically available, with hundreds more available in a research setting.

Making sure that laboratories can accurately and reliably perform genetic tests is a fundamental requirement for the success of genetic medicine, and the government has a key role to play in overseeing laboratory quality. Congress has provided federal agencies a broad mandate to ensure the accuracy and reliability of genetic testing, but inattention and delay have meant that this mandate has gone unheeded.

This report describes the role of the Clinical Laboratories Improvement Amendments of 1988 (CLIA) in ensuring laboratory quality, and documents the repeated failure of the Centers for Medicare and Medicaid Services (CMS) to implement this law with respect to genetic testing laboratories. It identifies the lack of transparency regarding laboratory quality as a key impediment to sound healthcare decision making by healthcare providers and patients.

The report also summarizes data from the Genetics and Public Policy Center’s recent survey of genetic testing laboratory directors. Survey findings indicate a clear correlation between participation in proficiency testing, which is not currently required under CLIA for genetic testing, and test quality. The findings also show that nearly three-quarters of laboratory directors surveyed 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 report concludes that implementation of CLIA with respect to genetic testing laboratories through the creation of a genetic testing specialty is necessary to ensure the quality of genetic testing, to fulfill the promise of genetic medicine, and to protect the public’s health.