Practices of Sickle Cell Disease Genetic Screening and Testing in the Prenatal Population

Abstract

Background Genetic screening and testing has only recently become an accessible assessment for genetic risk. Unfortunately, these technologies have been underutilized in minority populations despite their usefulness for predicting diseases like sickle cell disease (SCD), often found in African American and Black and Hispanic populations. We surveyed prenatal patients to understand current choices, beliefs and experiences surrounding genetic screening and testing, specifically for sickle cell disease. Methods In this cross-sectional survey, we collected information from 322 women during prenatal visits from July 2019 through May 2021. Responses to questions about pregnancy screening and testing practices were analyzed for trends to identify barriers to care and education about testing and screening for sickle cell disease. Patients were asked to rate whether they agree or disagree with statements regarding sickle cell health behaviors. We used χ2 tests to compare categorical variables by self-reported race. Binary logistic regression was used to determine the odds ratios and confidence intervals for each outcome. Results Women were a mean (SD) age of 33.3 (6.1). 42.9% of patients self-identified as White while 41.3 of patients self- identified as African American/Black. Screening questions were adjusted for differences in race, insurance, and education levels to show significant differences in responses between African Americans/Blacks and Whites for screening for SCD (p=0.047, OR 95% CI= 0.455 [0.210-0.989]) and plans to meet with genetic counselors (p=0.049, OR 95% CI = 0.299 [0.090-0.993]). Regarding sickle cell health behaviors, only the responses to the statements about if sickle cell is not in their family, then it is likely not in themselves or their children, and partners' opinions about genetic screening remained significant (p=0.011 and p=0.081, respectively). Conclusions Our findings suggest gaps in screening, testing, and educational efforts between African American/Black and White patients, as well as differences in opinions regarding pregnancy management with a family history or gestational diagnosis of sickle cell disease. Future research should focus on decreasing these healthcare gaps and improving education that address concerns about SCD for relevant populations.