BOX 3-2 Voluntary Quality Assurance and Proficiency Testing Programs
New England Regional Genetics Group and the Foundation for Blood Research
The New England Regional Genetics Group (NERGG) sponsored the first proficiency testing program for MSAFP screening in pregnant women. Since 1983, the Foundation for Blood Research (FBR) in Maine has served as the national testing and training resource for the use of MSAFP. The foundation provides quality control and proficiency training programs that include (1) bimonthly quality assessment; (2) assessment of the ability of laboratories to measure MSAFP levels reliably; (3) assessment of the laboratories' ability to interpret the AFP result, adjust for critical variables, and make screening recommendations to referring laboratories; (4) assessment of the quality of commercial test kits as well as individual laboratory performance; and (5) telephone consultation on laboratory problems. In 1986, the College of American Pathologists also began to offer proficiency testing for MSAFP; since 1988, FBR and CAP have offered such proficiency testing jointly. In addition, FBR now offers proficiency testing for so-called triple-marker screening for Down syndrome; and this program is also offered jointly with CAP (Haddow and McKnight, 1992).
National Voluntary Biochemical Genetics Laboratory Proficiency Testing Program
This voluntary program was established in 1985 by Frits Hommes and the Southeastern Region Genetics Group (SERGG) to provide quality standards and proficiency testing for biochemical genetic tests. It includes criteria for assessing adequate performance in (1) measuring inborn errors of metabolism of amino acids, organic acids, glycosaminoglycans, and oligosaccharides, as well as the assay of galactose-1-phosphate; (2) reporting analytical results; and (3) interpreting those results. A supervisory committee evaluates the results. Laboratories with unsatisfactory results are notified and offered a repeat test. Summary results of all participating laboratories are distributed after the supervisory committee has evaluated all the tests, including the repeat tests. Testing is performed twice a year, in February and September. Sixteen rounds of testing have been completed, with evidence of improved performance (Hommes, 1992).
International Tay-Sachs Disease Quality Control Reference Standards and Data Collection Center
A voluntary, international laboratory quality assurance and proficiency testing program for Tay-Sachs disease has existed since 1973 (Kaback et al., 1977). Laboratories that make an error on the first round of proficiency testing on 25 unknown samples are not accredited but have an opportunity to be retested with 10 additional samples. If the laboratory achieves 100 percent accuracy in the second round, it can still be accredited; if there is an error on the second round, the laboratory is not accredited.
The list of accredited laboratories is widely disseminated to Jewish organizations by the National Tay-Sachs and Allied Diseases Association, Inc. Although the only leverage exerted is not to publish the names of laboratories that fail its proficiency programs, the system has effectively closed some laboratories, and