Clinical geneticists have contributed to the creation and operation of birth defects surveillance systems and epidemiology research programs. Over the years, many continue to assist the multidisciplinary staff at state-based and regional programs, national networks, and international databases. Currently, all centers participating in the National Birth Defects Prevention Study include a clinical geneticist, which has increased awareness of this role. It is generally assumed that the medical skills and expertise acquired from clinical practice of a clinical geneticist can assist in the tasks of record review, case classification, coding, staff education, peer networking, and research, but these activities have not been formally reviewed. To increase the general knowledge base, this article used the framework of an historical descriptive review focusing on a sample of birth defects surveillance systems presented as illustrative case studies. We examined the contribution of clinical geneticists to a sample of epidemiologic research studies from each program. Looking to the future, we discuss the education of other clinical geneticists, the need to evaluate performance, and the geneticist's participation with other public health colleagues in the shared goal of birth defects prevention.
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