Exploring stigma in Huntington's disease: A scoping review of methods and conceptualizations for understanding experiences of gene expansion carriers and at‐risk individuals

Many individuals affected by the hereditary neurological condition Huntington's disease (HD) have reported experiences of stigmatization, yet the extant literature is currently theoretically and methodologically underdeveloped. Therefore, this scoping review aimed to examine the methodological approaches and theoretical conceptualizations of stigma used and to identify areas of underrepresentation given the emerging evidence base. A systematic search of five databases and hand-searches of included papers resulted in 3273 articles. Thirty-two met predefined inclusion criteria, which included primary research reporting experiences of stigma by people with HD or who have an inherited genetic risk. Selected articles represented qualitative (59% of included papers), quantitative (22%), and mixed-methods (19%) designs. Almost half did not provide theoretical definitions of stigma. Theories describing societal unacceptance based upon a discrediting attribute of an individual by the sociologist Erving Goffman, and of discrimination solely based upon real/perceived differences from the typical genome, were most prominent among theories referenced, conceptualizing stigma and genetic discrimination respectively. Findings suggested a limited theoretical grounding of stigma in primary research exploring HD, with a lack of discussion around conceptualizations of stigma applied to people affected by HD. Future research should apply clear definitions to differentiate constructs contributing to different forms of stigma and could explore whether experiences of stigma and support needs might differ across groups affected by HD. Implications for theoretical development and multilevel interventions are also discussed.