Characteristics of Clinical Molecular-Genetic Testing Laboratories in the United States

Abstract

Molecular-genetic tests have recently become a regular part of clinical practice. They are performed by a heterogeneous group of institutions, including academic centers, nonprofit organizations, and commercial laboratories. Concerns have been raised about the proliferation of commercial clinical genetics laboratories and their impact on academic-based genetic laboratory services (1)(2)(3)(4). Regulatory agencies and peer groups have questioned the adequacy of training of laboratory directors and have recommended minimum guidelines for the delivery of clinical genetics services (5)(6). Accreditation bodies such as the College of American Pathologists (CAP) and the New York State Department of Health (NYDOH) have recently developed specific standards for laboratories providing genetic testing to help ensure its quality. In the near future, further changes in the regulatory landscape for genetic testing are anticipated (7). Despite these concerns, few quantitative data are available about the institutional, demographic, and economic characteristics of clinical genetic testing laboratories and their acceptance of proposed quality standards (7)(8)(9)(10)(11)(12). Such data are needed to assess the quality of testing, strategies for regulatory oversight, and availability of case material for research and training programs. To evaluate the current laboratory environment for genetic testing, we sought to determine key features of clinical molecular-genetic laboratories and their directors in the US. Data were obtained via an anonymous mail survey of laboratory directors. The methods used for the survey were described previously (8). In brief, all genetic testing laboratories in the US that in January 1998 offered clinical genetic testing for one or more of six common genetic diseases were identified from the Helix directory (http://healthlinks.washington.edu/helix/). Care was taken to include most of the highest-volume genetic tests performed in the US. An anonymous questionnaire and subsequent reminder letter were mailed …