Reproductive genetic counseling challenges associated with diagnostic exome sequencing in a large academic private reproductive genetic counseling practice. (4th September 2015)

• Record Type: Journal Article
• Authors: Westerfield, Lauren E.; Stover, Samantha R.; Mathur, Veena S.; Nassef, Salma A.; Carter, Tiffiney G.; Yang, Yaping; Eng, Christine M.; Van den Veyver, Ignatia B.; Chitty, Lyn S.; Bianchi, Diana W.
• Is Part Of: Prenatal diagnosis. Volume 35:Number 10(2015:Oct.)
• Page Start: 1022
• Page End: 1029
• Publication Date: 2015-09-04
• Subjects: Prenatal diagnosis -- Periodicals; Fetus -- Diseases -- Diagnosis -- Periodicals; Electronic journals; 618.32075
• DOI: 10.1002/pd.4674
• Languages: English
• ISSNs: 0197-3851

Abstract

<abstract abstract-type="main"> <title>Abstract</title> <sec id="pd4674-sec-0001" sec-type="section"> <title>Objective</title> <p>Diagnostic whole exome sequencing (WES) is rapidly entering clinical genetics, but experience with reproductive genetic counseling aspects is limited. The purpose of this study was to retrospectively review and report on our experience with preconception and prenatal genetic counseling for diagnostic WES.</p> </sec> <sec id="pd4674-sec-0002" sec-type="section"> <title>Method</title> <p>We performed a retrospective chart review over 34 months in a large private prenatal genetic counseling practice and analyzed data for referral indications, findings, and results of genetic counseling related to diagnostic WES.</p> </sec> <sec id="pd4674-sec-0003" sec-type="section"> <title>Results</title> <p>Ten of 14 patients counseled about diagnostic WES for ongoing pregnancies pursued the test, resulting in identification of three pathogenic variants (30%). Five of 15 patients seeking counseling about familial WES results in an affected proband pursued prenatal diagnosis, resulting in identification of one affected fetus and five unaffected fetuses. We experienced challenges related to complexity and uncertainty of results, turnaround time, cost and insurance overage, and multidisciplinary fetal care coordination.</p> </sec> <sec id="pd4674-sec-0004" sec-type="section"> <title>Conclusion</title> <p>Despite having experienced complexity and identified challenges of the reproductive genetic counseling, availability of diagnostic WES contributed important information that aided in prenatal care planning and decision‐making. Future enhanced provider education and larger studies to systematically study the integration of WES in reproductive genetic counseling and prenatal care will be important. © 2015 John Wiley & Sons, Ltd.</p> </sec> </abstract>