P830: Who are we missing: Examining health insurance coverage for expanded carrier screening

Introduction: Despite a wealth of studies examining the barriers of expanded carrier screening (ECS) implementation and usage, there is limited research on the impact of health insurance coverage policies on patients' access to carrier screening.Our study aimed to examine the effect of coverage criteria utilized by payors on the detection of an individual's carrier status.Methods: We performed a retrospective chart review of patients and their reproductive partners at a single institution who had a positive carrier screening result to collect demographic information, carrier screening results, and family medical history.Demographic information included patient reported sex, ethnicity, and gravida.We estimated the proportion of individuals who would not have met health insurance coverage criteria for carrier screening that would detect their full carrier status based on policies used by major payors in the State of California.We defined full carrier status as the conditions an individual tested positive as being a heterozygote for ECS.Results: The positive yield of ECS in our study population was 48% (657/1358).Of the positive participants, 93% would not have had their full carrier status detected if carrier screening following health insurance coverage policies was elected in lieu of ECS.The ethnicity groups with the highest proportion of participants who would not have their carrier status detected were East Asian (94%) and White (94%), followed by South Asian (93%) and South Asian (93%).Conclusion: Our review of health insurance policies in California revealed payors generally rely on ethnicity and family history to determine what type of carrier screening a policyholder is eligible for, therefore missing a significant portion of people who are carriers for genetic conditions.Previous studies have consistently demonstrated that patients misidentify their ethnicity or ancestry and report incomplete family health histories.Our study shows that the criteria used by payors to determine what type of screening is covered for policyholders leads to insufficient and inequitable carrier screening strategies.