Quality assurance in medical and public health genetics services: a systematic review

As genetic services grow in scope, issues of quality assessment in genetic services are emerging. These efforts are well developed for molecular and cytogenetic testing and laboratories, and newborn screening programs, but assessing quality in clinical services has lagged, perhaps owing to the small work force and the recent evolution from a few large training programs to multiple training sites. We surveyed the English language, peer-reviewed literature to summarize the knowledge-base of quality assessment of genetics services, organized into the tripartite categories of the Donabedian model of "structure," "process," and "outcome." MEDLINE searches from 1990 to July 2008, yielded 2,143 articles that addressed both "medical/genetic screening and counseling" and "quality indicators, control, and assurance." Of the 2,143 titles, 131 articles were extracted for in-depth analysis, and 55 were included in this review. Twenty-nine articles focused on structure, 19 on process, and seven on outcomes. Our review underscored the urgent need for a coherent model that will provide health care organizations with tools to assess, report, monitor, and improve quality. The structure, process, and outcomes domains that make up the quality framework provide a comprehensive lens through which to examine quality in medical genetics.