Counseling for personal health implications identified during reproductive genetic carrier screening. (2nd September 2021)

• Record Type: Journal Article
• Authors: Gbur, Samantha; Mauney, Logan; Gray, Kathryn J.; Wilkins‐Haug, Louise; Guseh, Stephanie
• Is Part Of: Prenatal diagnosis. Volume 41:Number 11(2021)
• Page Start: 1460
• Page End: 1466
• Publication Date: 2021-09-02
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.6033
• Languages: English
• ISSNs: 0197-3851

Abstract

Abstract: Objective: Preconception and prenatal carrier screening is designed to provide reproductive risk information, but carriers for some autosomal recessive or X‐linked conditions also have personal health risks. This study investigated the prevalence of and inclusion of personal health implications in pre‐ and post‐test counseling. Methods: Twelve genetic conditions with personal health risks for carriers included on carrier screening panels but not otherwise screened routinely were identified (e.g., Gaucher disease with Parkinson's disease risk). A retrospective review was performed of patients with a positive carrier screen for one of these conditions at our center from 2012 to 2019. Results: Of 6147 individuals that had carrier screening for one of the twelve conditions, 96 (1.56%) did not report a known family history and screened positive for one of the conditions. Testing was ordered largely by reproductive endocrinologists (51.0%) and genetic counselors (35.4%). Most individuals did not receive pre‐ (96.8%) or post‐test (64.6%) counseling about personal health risks. Post‐test counseling was performed principally by genetic counselors (97.1%). For carriers of conditions with guidelines for specialist referral, most individuals (75.9%) were referred. Conclusion: Expanded genetic carrier screening increasingly identifies individuals with personal health implications, but patients are frequently not counseled before or after testing. These findings stress the importance of developing guidelines for practitioners about expanded carrier screening counseling and follow‐up. Key points: American College of Obstetricians and Gynecologists (ACOG) currently recommends offering carrier screening to all pregnant women For some autosomal recessive and X‐linked genetic disorders, there are health implications for carriers Our study found that most patients who tested positive as carriers for conditions with personal health risks were not counseled about those risks before or after genetic carrier testing, even when a genetic counselor was involved