Look before you leap: genomic screening in obstetrics and gynecology.

Abstract:

: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.

journal_name

Obstet Gynecol

authors

Adams MC,Berg JS,Pearlman MD,Vora NL

doi

10.1097/AOG.0000000000000871

subject

Has Abstract

pub_date

2015-06-01 00:00:00

pages

1299-1305

issue

6

eissn

0029-7844

issn

1873-233X

pii

00006250-201506000-00006

journal_volume

125

pub_type

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