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Article Abstract
Introduction: Hereditary cancer syndromes (HCS), such as hereditary breast and ovarian cancer syndrome (HBOC) and Lynch syndrome (LS), represent approximately 10% of all cancers. Along with medical burdens associated with the genetic risk of developing cancer, many individuals face stigma and discrimination. Genetic discrimination refers to negative treatment, unfair profiling, or harm based on genetic characteristics, manifesting as "felt" stigma (ostracization without discriminatory acts) or "enacted" stigma (experiencing discriminatory acts). This study aimed to describe concerns and experiences of genetic discrimination faced by individuals with HCS.
Methods: Semi-structured qualitative interviews were conducted with individuals with molecularly confirmed HCS residing in Ontario, British Columbia, and Newfoundland and Labrador, Canada. Purposive sampling was applied to obtain a diverse sample across demographic characteristics. Study procedures were informed by interpretive description; data were thematically analyzed using constant comparison.
Results: Seventy-three participants were interviewed (39 HBOC, 34 LS; 51 females, 21 males, 1 gender-diverse; aged 25-80). Participants described multifaceted forms of genetic discrimination across healthcare, insurance, employment, and family/social settings. Participants valued the Genetic Nondiscrimination Act's protective intent but demonstrated limited knowledge of its existence and provisions. Limited knowledge, coupled with policy constraints in non-legislative settings and third-party use of proxy genetic information, hindered participants' ability to whistleblow or seek recourse.
Conclusion: Our results illuminate a disconnection between the intended protective effects of genetic nondiscrimination legislation and ongoing genetic discrimination faced by individuals with hereditary conditions. To better support these individuals, this study encourages public outreach and knowledge translation efforts to increase awareness of nondiscrimination legal protections.
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