Quality assurance in molecular genetic testing laboratories

Context Specific regulation of laboratories performing molecular genetic te sts may be needed to ensure standards and quality assurance (QA) and safegu ard patient rights to informed consent and confidentiality. However, compre hensive analysis of current practices of such laboratories, important for a ssessing the need for regulation and its impact on access to testing, has n ot been conducted. Objective To collect and analyze data regarding availability of clinical mo lecular genetic testing, including personnel standards and laboratory pract ices, Design A mail survey in June 1997 of molecular genetic testing laboratory d irectors and assignment of a QA score based on responses to genetic testing process items. Setting Hospital-based, independent, and research-based molecular genetic t esting laboratories in the United States. Participants Directors of molecular genetic testing laboratories (n = 245; response rate, 74.9%), Main Outcome Measure Laboratory process QA score, using the American Colleg e of Medical Genetics Laboratory Practice Committee standards. Results The 245 responding laboratories reported availability of testing fo r 94 disorders, Personnel qualifications varied, although all directors had doctoral degrees. The mean QA score was 90% (range, 44%-100%) with 36 labo ratories (15%) scoring lower than 70%. Higher scores were associated with t est menu size of more than 4 tests (P = .01), performance of more than 30 a nalyses annually (P = .01), director having a PhD vs MD degree (P = .002), director board certification (P = .03), independent (P < .001) and hospital (P = .01) laboratories vs research laboratory, participation in proficienc y testing (P < .001), and Clinical Laboratory Improvement Amendment certifi cation (P = .006). Seventy percent of laboratories provided access to genet ic counseling, 69% had a confidentiality policy, and 45% required informed consent prior to testing. Conclusion The finding that a number of laboratories had QA scores that may reflect suboptimal laboratory practices suggests that both personnel quali fication and laboratory practice standards are most in need of improvement to ensure quality in clinical molecular genetic testing laboratories.