title: Current controversies in traditional and expanded carrier screening.
abstract: OBJECTIVE
  Expanded carrier screening, which detects carriers for a large number of autosomal recessive and X-linked diseases, is increasing in clinical utilization. A recent joint statement from multiple professional societies, in addition to a growing literature base, offers perspective on rationale, decision points, and reasonable methods of implementation.
  
  
  RESULTS
  Current literature addresses three areas: pre- and posttest education, including optimal use of formal genetic counseling, and differing characteristics of laboratory tests. Surveys of obstetricians and genetics providers also offer insight into optimal practice methods.
  
  
  CONCLUSIONS
  We review the carrier screening process in chronological sequence - pretest, test selection, and posttest results disclosure - and points to be considered, recommending possible practice protocols based on available literature and our combined laboratory and clinical practice experience.
authors: Counsyl, South San Francisco, California, USA.
authors: Gabriel A
authors: GA
authors: Lazarin
authors: James D
authors: JD
authors: Goldberg
mesh_terms: D005817:Genetic Counseling / Q000941:ethics; D030342:Genetic Diseases, Inborn / Q000175:diagnosis; D005820:Genetic Testing / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D017410:Practice Guidelines as Topic