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

<p>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 (<em>Mdn_I</em> = 14.75, <em>Mdn_U</em> = 11.33; <em>p</em> < 0.001) and scientific literacy (<em>Mdn_I</em> = 10.5, <em>Mdn_U</em> = 4; <em>p</em> < 0.001) as well as with income, education level, and type of insurance coverage (<em>p</em> < 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.</p>

Name thesis:degree_name

Masters of Science (MS)

Level thesis:degree_level

Thesis (MS)

Year dc:date.available

2025

Authors dc:creator

• Albracht, Brenna D
• <p>0009-0001-9451-1252</p>

Contributors dc:contributor

• Meagan Choates, MS, CGC
• Myla Ashfaq, MS, CGC
• Jacqueline Harkenrider, MS, CGC

• genetic counseling
• carrier screening
• informed choice
• scientific literacy
• health literacy
• genetic literacy
• sociodemographic factor
• decision making
• genetic testing
• pretest education
• Genetics
• Maternal and Child Health
• Obstetrics and Gynecology
• Other Genetics and Genomics

Repository record dc:identifier

https://digitalcommons.library.tmc.edu/utgsbs_dissertations/1438

OAI identifier oai:identifier

oai:digitalcommons.library.tmc.edu:utgsbs_dissertations-2495