General Recommendations for Quality Assurance Programs for Laboratory Molecular Genetic Tests

A comprehensive year-long effort in gathering detailed technical information to characterize the focus of quality assurance (QA) and proficiency testing/performance evaluation (PT/PE) programs for molecular genetic testing (MGT) for human inheritable diseases, has resulted in practical recommendations that could significantly improve the quality of genetic testing laboratory practices. Significant input was received from clinicians, researchers, and laboratory scientists intimately involved with medical genetics and genetic testing in diagnostic laboratories. This effort was carried out in response to the recommendations of the Genetic Testing Work Group to CLIAC (Clinical Laboratory Improvement Advisory Committee, 1988) for CDC research into QA for MGT, with specific emphasis on PE/PT programs.

Critical examination of the technologies used in molecular genetic testing — nucleic acid amplification (NAA), DNA sequencing, Southern blot analysis (SBA), and fluorescence in situ hybridization (FISH) — has resulted in five major recommendations that form the basis of a longterm MGT/QA action plan: 1) conduct pilot research to develop positive controls and test samples for pilot performance evaluation (PE) programs; 2) develop PE programs to supplement what already exists, particularly for diseases and/or methodologies not covered by existing programs; 3) establish laboratory-oriented, disease-specific consortia to provide quality assurance (QA) support as a forum for information networking, and providing methods validation through results comparison; 4) establish and link laboratory oriented and disease specific databases with other appropriate internet resources; and 5) improve training and continuing education for clinicians, laboratory scientists, and technicians.