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Assessing Genetic Risks: Implications for Health and Social Policy
ulations under the Clinical Laboratory Improvement Amendments of 1988 (CLIA88) and the medical devices legislation under which the Food and Drug Administration regulates genetic testing products such as test kits, probes, and reagents. The committee found that although adequate legislative authority exists to oversee the quality of genetic testing, this authority is not in fact being implemented for genetic testing. For example, existing CLIA88 regulations could ensure the quality of genetic laboratory testing, but these regulations are not being applied to genetic testing at all. Similarly, FDA has authority to regulate genetic testing kits and associated genetic test reagents and DNA probes, but such tests are rarely being submitted to FDA for approval.
The safety and effectiveness of genetic tests should be established before they are used routinely and, even when that comes to pass, great care should be taken in performing the tests and interpreting the results. The committee is concerned that the regulatory burden not impede further development of tests or the offering of genetic testing services by laboratories; nevertheless, the committee believes that the nature of genetic tests and their interpretation, and the magnitude of the personal and clinical decisions that may be made based on those results—including the abortion of affected fetuses—warrant a standard with close to ''zero" chance of error for such tests. Consequently, laboratories and personnel performing these tests should participate in proficiency testing programs, including review of the interpretation provided by the laboratory to referring physicians. Laboratories with any error should be placed on probation, and proficiency testing repeated, preferably using blinded methods. Unless the laboratory can attain this standard, its certification to perform this test should be removed.
Existing quality assurance in genetic testing is voluntary and has improved laboratory quality in its participants, but the committee finds that current laboratory quality control programs are inadequate to address the special issues posed by genetic testing primarily because these programs lack essential enforcement authority. As genetic testing expands, these voluntary programs should and will be replaced by the requirements of CLIA88. In the interim, the committee believes that the impact of voluntary programs could be strengthened by publishing the names of laboratories that have satisfied proficiency and other requirements. This is now done by the National Tay-Sachs Disease and Allied Disorders Association, Inc., which publishes results of the quality assessment conducted by the International Tay-Sachs Disease Quality Control Reference Standards and Data Collection Center. Before publication, any laboratory not satisfying these requirements should be given ample opportunity to rectify its deficiencies.
Genetics laboratories should provide reports in an easily understandable form for referring physicians who are not genetics specialists. The evaluation of the quality of these reports should be an important component of the proficiency testing process. These reports, including interpretation of the results, should also be reviewed by the Health Care Financing Administration (HCFA) as part of