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Assessing Genetic Risks: Implications for Health and Social Policy
Each round of proficiency testing gets more difficult as the proficiency of the participating laboratories improves.
Voluntary Quality Assurance and Proficiency Testing in Genetics
The Council of Regional Networks of Genetic Services, the College of American Pathologists, the Centers for Disease Control and Prevention, and several other organizations have developed specific genetic tests or tests for specific disorders. These include maternal serum alpha-fetoprotein, Tay-Sachs disease, and Huntington disease, for which the organizations have established voluntary proficiency tests (see Box 3-2). Other organizations interested in the quality of genetic tests include the Organization for Clinical Laboratory Genetics, the American Society for Histocompatibility and Immunogenetics, the American Association of Blood Banks, the Technical Working Group on DNA Analysis Methods (TWGDAM), the National Reference System for the Clinical Laboratory, the National Committee for Clinical Laboratory Standards (NCCLS), and the new American College of Medical Genetics (ACMG). Many of the voluntary quality assurance programs grew from the efforts of the American Society of Human Genetics (ASHG) (Punnett, 1992).
CORN was established in 1985 as a coordinating body for state genetic services programs organized in 10 regions. CORN is funded by the Genetic Services Program of the Maternal and Child Health Program, Health Resources and Services Administration (HRSA), U.S. Department of Health and Human Services (DHHS). Laboratory quality assurance quickly became and remains a high priority for CORN. CORN has a Quality Assurance Committee (for laboratory services), as well as other committees on quality assurance and proficiency testing, and education. CORN's national proficiency testing programs include alpha-fetoprotein, biochemical genetics, hemoglobinopathies and newborn screening, and most recently, DNA-based tests.
The College of American Pathologists developed guidelines, criteria, and methods for quality control and standards for clinical laboratories. CAP played a key role in the implementation of the Clinical Laboratory Improvement Act of 1967 (see below) when its quality assurance and proficiency testing standards and activities were recognized (''deemed") by the Secretary of Health and Human Services to fulfill the requirements of the law. Since 1967, CAP has worked to maintain itself and M.D.-pathologists as the appropriate professional group to judge the quality of clinical laboratories. CAP has voluntary proficiency testing programs for cytogenetics and MSAFP screening that are recognized by some states. With input from ASHG, CAP has spent two years developing guidelines for what it calls "molecular pathology." The ASHG role in setting standards for laboratory genetics will be assumed by the ACMG in 1993. ACMG laboratory standards for genetics are now under final revision and will be very important in quality assurance in genetic testing.