The Influence of Scientific, Genetic, and Health Literacy on Carrier Screening Decision-Making

For those wishing to assess their reproductive risks and make informed decisions in their reproductive planning, carrier screening for autosomal recessive and X-linked conditions, as well as cell-free DNA (cfDNA) screening for aneuploidy, are recommended during pregnancy. Despite similarities in purpose, sample requirements, insurance coverage, and safety, a lower percentage of individuals elect carrier screening than cfDNA screening, suggesting there may be a disconnect in what patients perceive as valuable information for their pregnancy. Previous studies have attempted to explain the factors associated with carrier screening uptake or decline; however, no models have yet accounted for a patient’s literacy level in health, genetics, and science. Thus, this study aimed to establish rates of these literacies in a prenatal population and determine whether these literacies were related to carrier screening uptake or informed decision-making. Patients receiving care at UTHealth prenatal clinics were offered a survey following standardized carrier screening education consisting of a demographics questionnaire, a modified Multivariate Measure of Informed Choice (mMMIC), and three validated tools each assessing a different literacy: a single question assessing health literacy, the Genetic Literacy and Comprehension (GLAC) measure, and a survey developed by Pew Research to measure scientific literacy. Testing decisions were confirmed via chart review. Health, genetic, and scientific literacy was identified at a rate of 91%, 69%, and 23%, respectively. Carrier screening uptake was 67% in primigravida patients compared to 91% for cfDNA screening and was not found to be associated with literacy. However, informed choice regarding carrier screening (14.7%) was associated with both genetic (MdnI = 14.75, MdnU = 11.33; p < 0.001) and scientific literacy (MdnI = 10.5, MdnU = 4; p < 0.001) as well as with income, education level, and type of insurance coverage (p < 0.001 for all). This study illustrates that higher rates of scientific and genetic literacy, as well as socioeconomic factors, are associated with informed carrier screening decision-making.