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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http://dx.doi.org/10.1159/000542210 | DOI Listing |
Gut Microbes
December 2025
Institut National de la Santé et de la Recherche Médicale (INSERM), InCOMM Intestine ClinicOralOmics Metabolism & Microbiota UMR1297 Inserm / Université Toulouse III, Toulouse, France.
Recent sets of evidence have described profiles of 16S rDNA sequences in host tissues, notably in fat pads that are significantly overrepresented and can serve as signatures of metabolic disease. However, these recent and original observations need to be further detailed and functionally defined. Here, using state-of-the-art targeted DNA sequencing and discriminant predictive approaches, we describe, from the longitudinal FLORINASH cohort of patients who underwent bariatric surgery, visceral, and subcutaneous fat pad-specific bacterial 16SrRNA signatures.
View Article and Find Full Text PDFFront Immunol
December 2024
Department of Pathology, Stavanger University Hospital, Stavanger, Norway.
Human papilloma virus (HPV) infections vary in their oncogenic potential, and whether an infection progresses to cervical intraepithelial neoplasia (CIN) also depends on the immune response. Therefore, the aim of the present study was to explore biomarkers related to the immune system and cell proliferation, in combination with HPV classified as having high (HOP) or low oncogenic potential (LOP), that can possibly guide a more accurate identification of women following cervical cancer screening programmes in need for immediate follow-up with a biopsy. A next-generation sequencing transcriptomic immune profile analysis applied to 28 persistent CIN3 lesions and 14 normal biopsies identified four genes, the immune markers and and the tumour markers and , as possible markers for differentiating between CIN3 and normal tissue.
View Article and Find Full Text PDFZhonghua Yu Fang Yi Xue Za Zhi
December 2024
Department of prosthodontics, The Affiliated Hospital of Qingdao University, Qingdao266003, China School of Stomatology, Qingdao University, Qingdao266023, China.
To analyze the effect of Iron deficiency anemia (IDA) and Black stain (BS) on the microbial community of dental plaque. A total of 136 preschool children aged 3 to 6 years old from 12 kindergartens in Shinan District and Shibei District of Qingdao City were investigated by using a cluster sampling method from April to May 2019. They were divided into two groups based on oral examination: the early childhood caries (ECC) group and the caries-free (CF) group.
View Article and Find Full Text PDFGene
December 2024
Department of General Biology, State University of Londrina, Londrina, Paraná, Brazil. Electronic address:
MicroRNAs can be found intracellularly incorporated into extracellular vesicles (EV-miRNAs) or extracellularly as cell-free miRNAs (cf-miRNAs). This study aimed to compare the diagnostic and prognostic potential of four miRNAs with recognized roles in prostate cancer as cf-miRNAs and EV-miRNAs, obtained from liquid biopsies (LB). Total RNA was isolated from whole plasma and plasma EVs from 15 controls (CTR) and 30 patients (20 with localized prostate cancer (PCa), 10 with metastatic prostate cancer (mPCa)).
View Article and Find Full Text PDFGeroscience
December 2024
Department of Pharmacology & Nutritional Sciences, Diabetes and Obesity Research Priority Area, University of Kentucky, Lexington, KY, USA.
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