Author ORCID Identifier

https://orcid.org/0009-0005-6019-0066

Date of Graduation

5-2026

Document Type

Thesis (MS)

Program Affiliation

Genetic Counseling

Degree Name

Masters of Science (MS)

Advisor/Committee Chair

Meagan Choates, MS, CGC

Committee Member

Blair Stevens, MS, CGC

Committee Member

Claire Singletary, MS, CGC

Committee Member

Hector Mendez-Figueroa, MD

Committee Member

Émile Moura Coelho da Silva, MS, CGC

Abstract

Purpose: This study evaluated patient decision-making and preferences for genetic carrier screening (CS) panel size and described patient rationale for panel size selection.

Methods: Pregnant participants completed a survey following an online genetics education module or genetic counseling session. Participants were randomized into one of four groups in which the small, medium, and large panel sizes varied by gene number. Survey questions elicited information on demographics, background information and knowledge about CS, and preferences for CS panel size and content.

Results: Participant selection between small (40.8%, n = 212/519), medium (26%, n = 135/519), and large (33.1%, n = 175/519) panel options did not differ significantly between randomized groups (p = 0.523). The strongest predictors of panel size selection were the statements “I would want the SMALLEST/BIGGEST panel if cost was the same for all options” (χ²(9) = 94.15, p < 0.001).

Conclusion: Panel size relative to its position among other options is more important than the specific number of conditions presented. Therefore, a one-size-fits-all approach for CS implementation is not appropriate. Clinicians should offer a range of pre-selected options, including a small, medium, and large option, and consider clarifying cost in pre-test counseling.

Keywords

Carrier Screening, Expanded Carrier Screening, Patient Decision-making, Genetic testing, Genetic Counseling, Reproductive Genetic Testing, Panel Size

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Available for download on Friday, April 30, 2027

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