Expanded carrier screening: a current survey of physician utilization and attitudes

Purpose Expanded carrier screening (ECS) is an available component of preconception and prenatal care. There is complexity around offering, administering, and following-up test results. The goal of this study is to evaluate current physicians' utilization and attitudes towards ECS in current practice. Methods This was a prospective qualitative survey study. A 32-question electronic survey was distributed during a 1-year period to obstetricians-gynecologists who were identified using a Qualtrics listserv database. Results While more than 90% of physicians offered ethnic-based carrier screening (CS), ECS was offered significantly less (2010, 20.6%, and 2016, 27.1%). Physicians who were not fellowship-trained in reproductive endocrinology and infertility (REI) preferred ethnic-based carrier screening (95.9 vs 16.8%; P< 0.001). REI subspecialists were more likely to offer ECS (80%) compared to 70% of maternal fetal medicine physicians (MFM). Physicians were comfortable discussing negative results (53.6%) compared to positive results (48.4%). Most physicians (56%) believed that ECS should not be offered until the significance of each disease is understood; 52% believed that testing should be restricted to those conditions important to couples; while 26% felt that testing should be done regardless of the clinical significance. Conclusions Discussion and application of ECS has increased in clinical practice. However, lack of comfort with counseling and varying beliefs surrounding ECS continue to hinder its utilization. Further education and training programs, and subsequent evaluation are warranted.