UC Irvine

Expanded carrier screening (ECS) enables reproductive couples to assess the risk of hundreds of inherited conditions in their offspring, surpassing the capabilities of smaller panels based on ancestry or family history. With a limited number of genetics professionals available to counsel patients on the testing, the responsibility often falls on non-genetic healthcare providers such as family medicine or obstetrics and gynecology physicians who often interact with reproductive couples. This study assessed Obstetrics and Gynecology (OBGYN) and Family Medicine (FM) resident trainees' current knowledge level of ECS to assess the need for further education. In addition, it identified barriers and factors reported by these physicians influencing their ordering practices in order to develop future strategies targeted to address these challenges. The findings from this study highlight that OBGYN and FM resident trainees have low baseline knowledge pertaining to expanded carrier screening and relevant professional guidelines. However, a single, live, case-based educational session significantly impacts their knowledge of ECS, awareness of professional guidelines, anticipated carrier screening ordering practices, and comfort and confidence in counseling about the testing. OBGYN and FM resident trainees reported the largest barrier to ordering ECS being lack of time with patient and the least reported, testing turnaround time. The factor most considered when choosing an ECS panel was a patient’s family history, and the least common factor was the laboratory performing testing. Ultimately, the findings of this study highlight the importance of incorporating more comprehensive and ongoing carrier screening education for non-genetics providers to ensure they have the confidence and knowledge needed for their patients.