Author ORCID Identifier

0009-0001-9451-1252

Date of Graduation

5-2025

Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Meagan Choates, MS, CGC

Committee Member

Myla Ashfaq, MS, CGC

Committee Member

Jacqueline Harkenrider, MS, CGC

Committee Member

Maureen Mork, MS, CGC

Committee Member

Rachel Newman, MD, MBA

Committee Member

Claire N. Singletary, MS, CGC

Abstract

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.

Keywords

genetic counseling, carrier screening, informed choice, scientific literacy, health literacy, genetic literacy, sociodemographic factor, decision making, genetic testing, pretest education

Download

Available for download on Thursday, April 30, 2026

Share

COinS