The objective of this study is to report the clinical experience of universal carrier screening (UCS) at a single, large referral center in the United States.METHODS:
A large, prospectively collected database of patients referred for genetic counseling and agreeing to undergo UCS was retrospectively reviewed. The database contained demographic, screening and diagnostic testing information for women who underwent UCS between November 2013 and July 2015.RESULTS:
A total of 849 women underwent UCS, with a mean patient age of 32.8 years (SD 6.26; range 16.8–44.7). Most patients (83.7%) did not have a family or personal history of genetic disease. Four commercial providers with various platforms of expanded screening were used in the study. In 103 cases a limited UCS was chosen by the patient to identify from 1–6 genetic disorders. A total of 266 positive results for 66 total traits or conditions were identified in 223 patients (26.3%), with two or more conditions reported in 39 patients (14.6%). Increasing the number of conditions in the panel was significantly associated with an increased percentage of screens with at least one positive result (P=.003). The most commonly reported screen-positive traits or conditions were hemoglobinopathies (N=46), cystic fibrosis (N=23), and fragile X syndrome (N=21). Following ACOG recommendations for carrier screening (only cystic fibrosis, fragile X, and SMA), 195 (73.3%) conditions would not have been identified.CONCLUSION:
UCS identified a large number of carriers of genetic disease. Current ACOG guidelines for UCS in clinical practice would have only identified 26.7% of carriers.