Practices of sickle cell disease genetic screening and testing in the prenatal population

Prince, A., Cruz-Bendezú, A., Gunawansa, N., Wade, J., Coleman-Cowger, V. H., Schulkin, J., Macri, C. J. | JNPM 2023;

Abstract: BACKGROUND: Genetic screening and testing are technologies historically underutilized in Black populations despite predicting diseases like sickle cell disease (SCD), which is predominantly found in Blacks. We surveyed prenatal patients to understand choices, beliefs and experiences surrounding genetic screening and testing, specifically for SCD. METHODS: In this cross-sectional study, we surveyed 322 women during prenatal visits. Responses were analyzed to identify barriers to care and education about testing and screening for SCD. Patients rated whether they agreed or disagreed 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 Black. Screening questions were adjusted for differences in race, insurance, and education levels to show significant differences in responses between 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]). The statements “if sickle cell is not in their family, then it is likely not in themselves or their children,” was significantly different between Black and White populations (p = 0.011, OR 95% CI = 0.207 [0.081–0.526]). CONCLUSION: Our findings suggest gaps in screening, testing, education, and pregnancy management choices between Black and White patients. Research should focus on decreasing these healthcare gaps and improving education that address concerns about SCD for relevant populations.

*Corresponding Author: 

Arianna Prince, BS, George Washington School of Medical and Health Sciences, 2300 I Street NW, Washington, DC 20037, USA. Tel.: +1 917 456 7156; E-mail: