Who Are We Missing: Examining Health Insurance Coverage for Expanded Carrier Screening

Our study aimed to examine the effect of coverage criteria utilized by payors on the detection of an individual's carrier status.

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. We estimated the proportion of individuals who would not have met coverage criteria for carrier screening that would detect their full carrier status based on policies used by major healthcare payors in California.

Of the participants with positive carrier screening results, 93% would not have had their full carrier status detected if carrier screening following payor policies was elected instead of expanded carrier screening. The highest proportion of participants who would not have their carrier status detected were of East Asian ethnicity (94%) and White ethnicity (94%), followed by South Asian ethnicity (93%) and Hispanic ethnicity (93%).

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 heterozygous for pathogenic variants. These criteria contribute to insufficient, unequal and limited carrier screening strategies.