Do Patients Have Preferences with Regard to Carrier Screening Panel Size? 

Jolie Marie Bourek, BS (Advisor: Meagan Choates, MS, CGC) 

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.

Advisory Committee:

• Meagan Choates, MS, CGC, Chair
• Hector Mendez-Figueroa, MD
• Emile Moura Coelho da Silva, MS, CGC
• Claire Singletary, MS, CGC
• Blair Stevens, MS, CGC

Join via Microsoft Teams (Please contact Ms. Bourek for her Teams meeting info.)