should be required of laboratories providing newborn screening tests. This could be accomplished by designating genetic screening tests as moderate or high complexity under CLIA88. HCFA should examine the proficiency testing programs for genetic screening tests described earlier in this chapter and, if they meet its criteria, deem them acceptable.
The committee recommends that HCFA create a new specialty of clinical genetics into which it can incorporate the existing subspecialty of clinical cytogenetics, and also create new subspecialties of biochemical and molecular genetics. MSAFP testing and other methods of prenatal testing for birth defects should be incorporated into one of these three subspecialties. Most genetic tests should be classified as high complexity under CLIA88, primarily to ensure that supervisory personnel have adequate training in genetics. Although genetic tests might someday be simple enough to be feasible for home use, the difficulties of interpreting results would still render them of high complexity.
Within its existing authorities, HCFA can take steps to enhance the quality of tests for rare disorders, for which specific requirements may never be established. According to a HCFA representative, requirements for proficiency testing are unlikely to be established for low-volume tests unless their clinical or public health implications are high (J. Yost, HCFA, personal communication, January 1992). The establishment of such requirements could be costly both to HCFA and to laboratories that must participate.
The committee strongly recommends that the genetics community, under the leadership of its professional societies, designate a small number of laboratories as centralized facilities for tests for rare disorders . These organizations should establish and publicize a register of the tests performed by these central laboratories and encourage referral of specimens to them. The register should be easily accessible to a wide range of health care providers. It could also be included in the data bases of the National Library of Medicine. An external proficiency testing program should be established for the central laboratories. The genetics community should also study the possibility of setting a minimum volume of a genetic test that a laboratory must perform annually in order to obtain certification for that test and ensure the quality of test performance. With its informatics and data base capabilities, the National Library of Medicine should maintain a data base of centralized laboratories performing tests for rare disorders, genetic counseling centers, and support groups, which should be available to laboratories and providers at no charge.
HCFA and CDC should give high priority to requiring established proficiency programs for genetic tests. The New York State program can be considered a model for many genetic tests, although high priority should also be extended to setting specific requirements for other frequently performed prenatal tests. HCFA should incorporate standards and procedures for assessing genetic tests in its training programs for current and new laboratory inspectors.
Laboratories in academic health centers and elsewhere that conduct re-