Current controversies in traditional and expanded carrier screening.

Abstract:

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.

authors

Lazarin GA,Goldberg JD

doi

10.1097/GCO.0000000000000256

subject

Has Abstract

pub_date

2016-04-01 00:00:00

pages

136-41

issue

2

eissn

1040-872X

issn

1473-656X

journal_volume

28

pub_type

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