Clinical geneticists in birth defects surveillance and epidemiology research programs: Past, present and future roles

Angela E. Lin, Sonja A. Rasmussen, Angela Scheuerle, Roger E. Stevenson

Research output: Contribution to journalReview article

5 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)69-75
Number of pages7
JournalBirth Defects Research Part A - Clinical and Molecular Teratology
Volume85
Issue number1
DOIs
StatePublished - Jan 1 2009

Keywords

  • Birth defects monitoring program
  • Classification
  • Coding
  • Surveillance system
  • Syndrome delineation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Embryology
  • Developmental Biology

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