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.
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: Sumit Punj; Yassmine Akkari; Jennifer Huang; Fei Yang; Allison Creason; Christine Pak; Amiee Potter; Michael O Dorschner; Deborah A Nickerson; Peggy D Robertson; Gail P Jarvik; Laura M Amendola; Jennifer Schleit; Dana Kostiner Simpson; Alan F Rope; Jacob Reiss; Tia Kauffman; Marian J Gilmore; Patricia Himes; Benjamin Wilfond; Katrina A B Goddard; C Sue Richards Journal: Am J Hum Genet Date: 2018-05-10 Impact factor: 11.025