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Updated: May 7, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
Genetic testing: when prediction generates stigmatization.
Julia DiMillo1, André Samson2, Anne Thériault2
1McGill University, Canada Julia.dimillo@mail.mcgill.ca.
BRCA1/2 gene mutations can lead to significant stigmatization for carriers, impacting their sense of self and family well-being. Psychological support is crucial for managing these challenges in genetic counseling and patient care.
Area of Science:
- Genetics
- Psychology
- Sociology
Background:
- BRCA1/2 gene mutations are associated with increased cancer risks.
- Understanding the lived experiences of mutation carriers is vital for supportive care.
Purpose of the Study:
- To explore the experiences of stigmatization among BRCA1/2 gene mutation carriers.
- To identify the types and impacts of stigma experienced by these individuals.
Main Methods:
- Grounded theory methodology was employed.
- Six BRCA1/2 gene mutation carriers (mean age 38.5 years) participated in the study.
Main Results:
- Three forms of stigmatization were identified: by anticipation, rejection, and affiliation.
- Participants reported impacts on their sense of womanhood and fears of intergenerational stigma.
- Participants expressed feeling threatened by others due to their genetic status.
Conclusions:
- Stigmatization is a significant psychosocial burden for BRCA1/2 carriers.
- The findings highlight the need for tailored psychological support and counseling.
- Addressing stigma is essential for comprehensive patient follow-up and care.
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