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Updated: May 7, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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.

Journal of Health Psychology

|September 17, 2013

Summary

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.

Keywords:

breast cancer cancer genetic testing health psychology stigma

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Published on: January 16, 2019

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.