Date of Award

2017

Document Type

Open Access Thesis

Department

Genetic Counseling

Sub-Department

School of Medicine

First Advisor

Janice Edwards

Abstract

Purpose: This study explored the perspectives of intended parents regarding genetic carrier screening of a gamete donor. The main goal of this study was to determine how much genetic carrier screening information a recipient would prefer to receive about potential donors. The study also aimed to identify factors that potentially influence a recipient’s choice of donor based on genetic screening results. Methods: An online questionnaire was developed to assess intended parents’ preferences regarding expanded carrier screening (ECS) of their donors. Participants were recruited from various online support groups and were eligible if they had previously utilized or were currently utilizing donor gametes. A total of 58 usable responses were collected and reflect insight into the perspectives of intended parents regarding which factors associated with genetic carrier screening influence their choice of donor. The questionnaire consisted of demographic questions, general questions about carrier screening, a genetics knowledge quiz, and questions about hypothetical scenarios in which a donor was a carrier for one of four distinct conditions: hemochromatosis, Usher syndrome, Bardet-Biedl syndrome, and GRACILE syndrome. Results: The majority of women (91.4%, 53/58) opted for ECS of their potential gamete donor, preferred over traditional ethnicity- or family history-based screening. Participants were comfortable proceeding with a donor with the knowledge that he/she was a carrier for a mild genetic condition (hemochromatosis, 83.3%). Fewer respondents were comfortable proceeding with a donor who was a carrier for a more severe condition (Usher, 37.0%; BBS, 39.1%; GRACILE, 39.1%). Conclusion: Intended

parents prefer ECS for their donors over traditional ethnicity- or family history-based screening. Participants were uncomfortable with a donor who is a carrier for severe, lifelimiting conditions, regardless of statistical risk. Expanded carrier screening is desired and could be beneficial for use in gamete donation; however, given the overall discomfort with identification of positive carrier status, ECS would significantly alter clinical decision making in these settings. Increased genetic education of recipients on the implications of ECS carrier results is indicated, and access to genetic counseling services may be indicated for optimal implementation.

Rights

© 2017, Erika Kristy Jackson

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