The finding that a number of laboratories had QA scores that may reflect suboptimal laboratory practices suggests that both personnel qualification and laboratory practice standards are most in need of improvement to ensure quality in clinical molecular genetic testing laboratories.

The availability of molecular genetic tests for the identification of mutant gene carriers, and for assessing individual genetic response to pharmacologic agents, infectious agents, and other environmental exposures, is expected to result in the increased use of the molecular genetic testing laboratory by primary care physicians. However, a number of concerns have been raised about such testing including the need for safeguards to protect patient privacy, and if the interface between genetic testing laboratories and the ordering physician facilitates the appropriate clinical use of the test result. In this study, genetic counselors were surveyed to determine their practices with regard to the clinical issues of informed consent and confidentiality in the context of genetic testing, and to assess their level of satisfaction with the reporting practices of molecular genetic testing laboratories. The results of this survey revealed that there is variability in the practices of genetic counselors with regard to obtaining informed consent, and that there are areas for improvement with regard to molecular genetic test reports, particularly in terms of interpretation of results.

Context.—It has been suggested that specific regulation of laboratories performing genetic testing may be needed to ensure standards and quality assurance, and to safeguard the rights of patients with regard to confidentiality and providing informed consent. Previously, a comprehensive analysis of current practices of molecular genetic testing laboratories was conducted, the results of which have assisted in the assessment of the need for regulation and its impact on access to testing. However, a study designed to determine clinical laboratory practices with regard to biochemical genetic testing has not been carried out. Objective.—To collect and analyze data regarding availability of clinical biochemical genetic testing, personnel standards, and laboratory quality assurance practices. Design.—A mail survey of biochemical genetic testing laboratory directors and assignment of a quality assurance score based on responses to genetic testing process items. Setting.—Hospital-based, independent, and research-based biochemical genetic testing laboratories in the United States. Participants.—Directors of biochemical genetic testing laboratories (n = 133; response rate 68.5%). Main Outcome Measure.—Laboratory process quality assurance score based on the standards defined by the American College of Medical Genetics Laboratory Practice Committee. Results.—Personnel qualifications varied, although all directors had doctoral degrees. The mean quality assurance score was 77% (range 28%–100%). Higher scores were associated with the following variables: test director having an MD degree versus PhD degree (P = .002), director board certification in biochemical genetics (P = .002), research and hospital laboratory versus independent laboratory setting (P < .001), and participation in a proficiency testing program (P = .03). Twelve percent of participants had a confidentiality policy, and 19% required informed consent before testing. Conclusion.—The finding that a number of laboratories had quality assurance scores that may reflect suboptimal laboratory practices, particularly with regard to reporting practices, suggests that personnel qualification and laboratory practice standards may be in need of improvement to ensure quality in clinical biochemical genetic testing laboratories, as well as the appropriate clinical use of the test results.