Purpose of review: 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.
Recent findings: 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.
Summary: 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.
Counsyl, South San Francisco, California, USA
Correspondence to Gabriel A. Lazarin, MS, 180 Kimball Way, South San Francisco, CA 94080, USA. Tel: +1 888 268 6795; e-mail: firstname.lastname@example.org