Perceived utility of genetic carrier screening in a diverse patient population

Current reproductive guidelines call for offering expanded carrier screening (ECS) for genetic conditions. Currently available panels can include screening for carrier status of tens to hundreds of autosomal recessive and/or X-linked conditions. Clinical utility is based on alterations to reproductive decision-making, but study cohorts supporting the utility of ECS largely consist of individuals of European ancestry who are highly educated, of high income, and who often receive preconception counseling. There is a lack of research on the views of patients from diverse backgrounds. Therefore, we aimed to assess and compare perceptions of the utility of ECS and targeted carrier screening (TCS) in an ethnically, economically, and educationally diverse population. We administered a survey to obstetrics and gynecology patients in Houston, Texas in the fall of 2022. Questions regarding genetic testing, reproductive management, and demographics were asked. Of the respondents who wanted children in the future, expressed interest in knowing reproductive genetic risks, and would consider using this information to change reproductive plans (114/186, 61%), 100 indicated their test preference, with 70 (70%) preferring ECS and 30 (30%) preferring TCS. There was no statistical difference in test preference by race and ethnicity, education, income, or insurance. Eighty-one of the 114 participants provided feedback on the utility of CS, and 74/81 (91%) of them found it useful. Only 30/81 (37%) of them, however, stated that they would change their reproductive plans if identified as at-risk. Participants were more likely to change their reproductive plans if they were not pregnant (OR = 3.63; 95 CI = 1.26-10.47), had not had prior genetic testing (OR = 3.03; 95 CI = 1.02-8.95), or had higher income (OR = 1.25; 95 CI = 1.00-1.55). This heterogeneous cohort expands upon data from previous homogeneous cohorts assessing CS utility. While attitudes toward CS were favorable, its perceived utility was lower. Information on reproductive management options should be provided to patients in the preconception period, and access to reproductive services must be improved for those with lower incomes. Further insight on the perspectives of diverse populations is imperative to defining the utility of carrier screening most accurately and equitably.