Genetic Testing and Primary Care

To the Editor: In calling for “[f]ederal regulation and oversight of genetic testing . . . to ensure appropriate quality and prevent inappropriate use,” Dr Cheng and colleagues¹ ignore the extensive regulation under which all clinical laboratory testing in the United States is lawfully performed. The Clinical Laboratory Improvement Amendments (CLIA) and accompanying regulations set forth strict requirements for assay validation, quality control/quality assurance, performance assessment, and associated clinical and technical personnel.² The College of American Pathologists (CAP), certification by which deems laboratories compliant with CLIA regulations, has standards that by law must meet or exceed those imposed by CLIA.³ Although the CLIA regulations do not specifically mandate that laboratories confirm the clinical validity of genetic tests they offer, both the CAP and professional practice obligations require evidence of the clinical performance characteristics of these assays.⁴ Moreover, a recent draft report of the Secretary's Advisory Committee on Genetics, Health, and Society found that “there have been few documented cases in which patients experienced harm because of errors in a CLIA-regulated genetic test.”⁵