Quality assurance and quality improvement in U.S. clinical molecular genetic laboratories

A robust quality-assurance program is essential for laboratories that perform molecular genetictesting to maintain high-quality testing and be able to address challenges associated with performanceor delivery of testing services as the use of molecular genetic tests continues to expand inclinical and public health practice. This unit discusses quality-assurance and quality-improvementconsiderations that are critical for molecular genetic testing performed for heritable diseases andconditions. Specific discussion is provided on applying regulatory standards and best practices inestablishing/verifying test performance, ensuring quality of the total testing process, monitoringand maintaining personnel competency, and continuing quality improvement. The unit providesa practical reference for laboratory professionals to use in recognizing and addressing essentialquality-assurance issues in human molecular genetic testing. It should also provide useful informationfor genetics researchers, trainees, and fellows in human genetics training programs, aswell as others who are interested in quality assurance and quality improvement for moleculargenetic testing.