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Genomic Screening in Obstetrics and Gynecology

Adams, Michael C. MS; Berg, Jonathan S. MD, PhD; Pearlman, Mark D. MD; Vora, Neeta L. MD

doi: 10.1097/AOG.0000000000000871
Contents: Current Commentary

There are a number of new genetic tests and a variety of recommendations for obstetrician–gynecologists. In recent years, screening of low-risk pregnant women with noninvasive prenatal testing has been proposed as well as universal BRCA1 and BRCA2 screening of all women regardless of risk status. Both proposed genetic screening tests raise complicated issues relating to predictive value, cost, and consequences after screening to both the health care system as a whole as well as serious potential adverse consequences for the patient. In addition, there are significant barriers relating to clinician education in proper use of these genetic tests as well as logistic issues of performing adequate genetic counseling in a busy general practice. We recommend that pregnant women offered noninvasive prenatal testing be informed of its advantages and disadvantages compared with standard screening with the caveat that positive noninvasive prenatal tests must be confirmed with further, invasive testing. We recommend against population genetic screening of all women for BRCA1 and BRCA2 mutations until there are comprehensive data regarding harms and benefits as well as cost-effectiveness. Finally, we recommend that new educational models for genetics be developed for obstetrics and gynecology residency training so that future health care providers will be prepared for the opportunities and challenges that genetic testing creates.

Is obstetrics and gynecology ready for increased genetic screening in low-risk women?

Department of Genetics and the Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina; and the Department of Obstetrics, Gynecology, and Surgery, University of Michigan, Ann Arbor, Michigan.

Corresponding author: Neeta L. Vora, MD, Department of Obstetrics and Gynecology, Division of Maternal-Fetal Medicine, 3010 Old Clinic Building, CB# 7516, University of North Carolina at Chapel Hill, Chapel Hill, NC 27599; e-mail:

Financial Disclosure The authors did not report any potential conflicts of interest.

© 2015 by The American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reserved.