Date of Award

2014

Document Type

Open Access Dissertation

Department

Genetic Counseling

First Advisor

Janice G Edwards

Abstract

Purpose: This study explored opinions and attitudes of genetic counselors regarding three controversial applications of preimplantation genetic diagnosis (PGD): PGD for early-onset Alzheimer, use of embryos that are BRCA positive after PGD revealed no disease-free embryos to be available, and PGD to select against a variant of unknown significance (VUS) for Marfan syndrome. Methods: Genetic counselors were contacted through the National Society of Genetic Counselors (NSGC) electronic mailing list. Inclusion criteria required that a participant was currently practicing as a genetic counselor, was a member of the NSGC, and has counseled patients about PGD. Twenty-nine participants volunteered to participate and 24 recorded interviews were transcribed for data analysis. The survey consisted of 34 questions including demographic questions, qualitative questions about each of the three case scenarios, and general questions about PGD. Qualitative analysis was performed using a conventional content analysis approach as described by Hsieh (2005). Results: Themes common to all three scenarios included: necessity of appropriate/thorough counseling, the importance of the genetic indications, patient perceptions, and respect for patient autonomy in decision making. Multiple themes were also described for each unique case scenario. The majority (65%,15/23) of participants felt PGD for an adult-onset disorder was least controversial, and PGD for a VUS was most controversial. Conclusion: Participants felt that PGD was appropriate for life limiting conditions, cases where there was an established diagnosis with a known pathogenic mutation, and when symptom severity and disease burden were significant. Participants agreed that appropriate/thorough counseling was necessary, patient perceptions of `serious' disease were critical, and patient autonomy were key factors when dealing with controversial applications of PGD. Ultimately, genetic counseling is recommended and patients need to understand the benefits, disadvantages, and the potential outcomes of PGD in order to make the decision that is most appropriate for their families.

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