Voluntary quality control programs have helped to establish criteria and standards for genetics laboratories and laboratory personnel. The committee finds the current state of voluntary laboratory quality control programs in human genetics to be beneficial, but generally inadequate to address the special issues posed by genetic testing, because these programs lack essential enforcement authority. The impact of these voluntary programs should be strengthened by the publication of the names of laboratories that have satisfied the proficiency and other requirements. Before names are withheld from a published list of "quality" laboratories, any laboratory not satisfying these requirements should be given an opportunity to rectify its deficiencies.

The clinical implications of commonly performed prenatal tests, particularly the abortion of presumably affected fetuses, warrant that laboratories performing them participate in proficiency testing programs.

The performance standard for genetic testing should be as close to zero error as possible. Laboratories with any error in proficiency testing should be placed on probation, with proficiency testing repeated using blinded methods. Unless the laboratory can attain the required standard in performing and interpreting any genetic test, its certification to perform that test should be removed.

The existing CLIA88 regulations could ensure the quality of genetic laboratory testing were they to be fully implemented and applied to genetic testing. Action by DHHS would help to ensure the quality of the most frequently performed genetic tests by (1) establishing genetics as a subspecialty under the CLIA88 regulations; (2) rating specific genetic tests for complexity; and (3) requiring proficiency testing for genetic tests.

The first step would be to require all laboratories providing any genetic test to obtain a certificate from HCFA. Next, would be development of a system for verifying the accuracy and reliability of the tests they perform. Third, laboratories performing genetic tests would be subject to inspection every two years. To make this approach meaningful, the laboratory inspectors would have to be well versed in the unique aspects of genetic tests, including the interpretation included in the report of results. A specific training unit on genetic testing should be included in HCFA's educational training program for inspectors, and the same training should be required of inspectors in agencies deemed by HCFA capable of performing inspections. In addition to these steps, HCFA could determine that existing proficiency programs for genetic tests satisfy its standards; HCFA could deem these proficiency testing programs to be required by laboratories providing those tests until such time as other programs are developed (see previous section on voluntary programs and Box 3-2 in this chapter). A laboratory that failed proficiency testing in a "deemed" program would be subject to HCFA sanctions even if that program was voluntary and did not itself impose sanctions.

It is doubtful that adequate quality control can be ensured with voluntary proficiency testing. This holds for newborn and other types of screening as well. As with any genetic testing, participation in proficiency testing programs



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