Current Landscape and New Paradigms of Proficiency Testing and External Quality Assessment for Molecular Genetics
Lisa V. Kalman , PhD; Ira M. Lubin , PhD; Shannon Barker , PhD; Desiree du Sart , PhD; Rob Elles , PhD; Wayne W. Grody , MD, PhD; Mario Pazzagli , PhD; Sue Richards , PhD; Iris Schrijver , MD; Barbara Zehnbauer , PhD
From the Laboratory Research and Evaluation Branch, Division of Laboratory Science and Standards, Office of Surveillance, Epidemiology, and Laboratory Services, Centers for Disease Control and Prevention, Atlanta, Georgia (Drs Kalman, Lubin, Barker, and Zehnbauer); the Department of Biomedical Engineering, Georgia Institute of Technology, Atlanta, Georgia (Dr Barker); the Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria Australia (Dr du Sart); the Manchester Academic Health Science Centre, Genetic Medicine, St Mary's Hospital, Manchester, Greater Manchester, United Kingdom (Dr Elles); the Departments of Pathology & Laboratory Medicine, Pediatrics, and Human Genetics, University of California, Los Angeles School of Medicine, Los Angeles, California (Dr Grody); the Department of Clinical Physiopathology, University of Florence, Florence, Italy (Dr Pazzagli); the Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, Oregon (Dr Richards); and the Departments of Pathology and Pediatrics, Stanford University School of Medicine, Stanford, California (Dr Schrijver).
Context.—Participation in proficiency testing (PT) or external quality assessment (EQA) programs allows the assessment and comparison of test performance among different clinical laboratories and technologies. In addition to the approximately 2300 tests for individual genetic disorders, recent advances in technology have enabled the development of clinical tests that quickly and economically analyze the entire human genome. New PT/EQA approaches are needed to ensure the continued quality of these complex tests.
Objectives.—To review the availability and scope of PT/EQA for molecular genetic testing for inherited conditions in Europe, Australasia, and the United States; to evaluate the successes and demonstrated value of available PT/EQA programs; and to examine the challenges to the provision of comprehensive PT/EQA posed by new laboratory practices and methodologies.
Data Sources.—The available literature on this topic was reviewed and supplemented with personal experiences of several PT/EQA providers.
Conclusions.—Proficiency testing/EQA schemes are available for common genetic disorders tested in many clinical laboratories but are not available for most genetic tests offered by only one or a few laboratories. Provision of broad, method-based PT schemes, such as DNA sequencing, would allow assessment of many tests for which formal PT is not currently available. Participation in PT/EQA improves the quality of testing by identifying inaccuracies that laboratories can trace to errors in their testing processes. Areas of research and development to ensure that PT/EQA programs can meet the needs of new and evolving genetic tests and technologies are identified and discussed.