Date of Completion

4-22-2020

Embargo Period

4-22-2023

Keywords

BRCA1, BRCA2, hereditary mutations, breast cancer, ovarian cancer, family-based genetic counseling

Major Advisor

Keith M. Bellizzi, PhD, MPH

Associate Advisor

Laura K. M. Donorfio, PhD

Associate Advisor

Preston A. Britner, PhD

Field of Study

Human Development and Family Studies

Degree

Doctor of Philosophy

Open Access

Open Access

Abstract

One in 8 women will be diagnosed with breast cancer in her lifetime, but only 5-10% of women who are diagnosed have a BRCA1 and BRCA2 (BReast CAncer) genetic mutation. These mutations naturally occur in biological family units, and women with these mutations live with an increased rate of breast/ovarian cancers. The standard of genetic counseling care is individualized counseling, in which one at-risk family member is tested at a time. A new and potentially more relevant genetic counseling approach, family-based genetic counseling, tests all at-risk family members at one time as one cohesive patient group. The current study explored lived experiences and preferences (i.e., individualized, family-based) of women who have tested positive for these mutations and psychosocial outcomes of genetic counseling.

A sample of 60 BRCA1/2-positive women was recruited through multiple online support groups. Participants completed an online questionnaire outlining demographic characteristics, genetic counseling information, and HRQoL outcomes. A subset of this sample (n=34) were interviewed to gain experiential insight into their genetic counseling experience and preferences for genetic counseling. Six themes emerged: sources affecting perceived risk, preventive concerns and decisions, experiences in healthcare, emotional reactions to genetic counseling, future recommendations, and family support and communication. Three interesting subthemes were also identified, including 1) “pre-vivor”, how women of this demographic describe themselves to others, 2) “testing intuition”, the idea of knowing one’s genetic test results were positive before receiving them, and 3) the “hard truth” that prophylactic surgeries are the only true option, whereas ongoing surveillance just buy time. Preferentially, women would have chosen family-based genetic counseling instead of the standard individualized counseling if given the choice. Anxiety (ppppppppBRCA1/2 genetic mutations.

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