Alternative approaches to proficiency testing in molecular genetics.

Abstract

Clinical genetic testing laboratories have come under scrutiny in the US and Europe with increasing public awareness of genomic research. Such increased publicly driven demand for quality can improve laboratories and encourage high standards of excellence. The Department of Health and Human Services Secretary’s Advisory Committee on Genetic Testing (1) was instrumental in placing genetic testing in the public eye and exerted pressure on genetic providers to organize our profession and address public concerns, particularly concerns about laboratory quality. Are safeguards in place to prevent poor-quality genetic testing? Multiple federal and state agencies as well as professional organizations have developed guidelines, recommendations, and checklists with which laboratories must comply. In the US these include the Clinical Laboratory Improvement Amendments (CLIA) of 1988 (2), Genetic Testing Under the Clinical Laboratory Improvement Amendments (3), New York State Department of Health Laboratory Standards (4), the College of American Pathologists (CAP) checklist for molecular pathology laboratories (5), the American College of Medical Genetics (ACMG) Standards and Guidelines for Clinical Genetics Laboratories (6), and a NCCLS guideline (7). A recent review of quality assurance in genetic testing has been addressed in the ACCE [analytical validity, clinical validity, clinical utility, and ELSI (ethical, legal, and social issues of genetic testing)] report on carrier screening for cystic fibrosis, a CDC-sponsored project (8). Internal and external quality assurance and quality-control programs have been established to ensure that laboratories can reliably produce (and reproduce) high-quality results in a timely manner and with clinical utility for patients and healthcare providers. Proficiency testing (PT) identifies weaknesses and provides guidance for improvement. The ACMG/CAP PT program has been providing a molecular genetics laboratory survey with challenges on multiple genetic disorders since 1995, and CAP has provided on-site laboratory inspection and a certification …