What Are You Missing? Expanded Genetic Carrier Testing Identifies At-risk Couples [17L]

• Published in: Obstetrics and gynecology (New York. 1953) Vol. 131 Suppl 1; no. 1; p. 133S
• Main Authors: Swope, Betsy, Tschirgi, Matt, Farner, Stephanie, Adamski, Craig, Terhaar, Catherine, Settler, Christina
• Format: Journal Article
• Language: English
• Published: by The American College of Obstetricians and Gynecologists. Published by Wolters Kluwer Health, Inc. All rights reserved 01.05.2018
• ISSN: 0029-7844; 1873-233X
• DOI: 10.1097/01.AOG.0000533556.76315.0e

INTRODUCTION:Expanded genetic carrier testing allows couples to determine their reproductive risk for genetic disorders regardless of an individualʼs ancestral background or geographic origin. METHODS:As part of routine laboratory management, requisitions were reviewed for information on reproductive partners. Our database was queried for names of reproductive partners, and demographic information was cross-referenced to determine validity of the matched sample. A retrospective analysis was performed for known matched reproductive pairs and descriptive analysis regarding ethnicity, test ordered, and results of genetic carrier testing on each matched pair was performed. RESULTS:Data was entered for 1,585 reproductive partners; after validation and confirmation of carrier testing performed, 783 known reproductive pairs were confirmed. Forty-six (5.9%) couples were found to be at risk for the same autosomal recessive disorder(s), includinghereditary hemochromatosis (20), cystic fibrosis (10), familial Mediterranean fever (6), hemoglobinopathies (5), spinal muscular atrophy (3), primary congenital glaucoma (2), and phenylalanine hydroxylase deficiency (PKU) (1). An additional 1% were potentially at increased risk for the same genetic disorder due to indeterminate results by enzyme analysis or hemoglobin electrophoresis. CONCLUSION:Our study identified 6.9% of couples to be at increased risk to have an affected child, and demonstrates the importance of testing partners to allow for reproductive decision-making. Additionally, 28 (61%) of these couples were found to be carriers of disorders only included on expanded carrier testing panels. Therefore, testing patients with an expanded pan-ethnic panel will identify more couples at risk for disorders that would be missed by current ethnicity-based recommendations.