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In addition to the symptoms of the condition itself, stigmatisation is often described by those who live with hereditary conditions as a major challenge. This study explores the stigmatisation experiences of people with inherited conditions and their families in Portugal. Seventeen semi-structured interviews were conducted with individuals affected with a hereditary condition, asymptomatic carriers and family members, recruited through patient support organizations and social media. The data were analysed through inductive content analysis, resulting in three major categories: (i) stigmatisation contexts; (ii) psychosocial impacts; and (iii) coping strategies to deal with the stigma. The findings suggest the perception of stigma in family and social life, including specific contexts and systems such as academic, work, health care, social security and insurance. The stigma is associated with embarrassment, sadness, and frustration at the personal level, and with social impacts such as isolation, interpersonal distance, and avoidance of relationships. Participants often resort to providing explanations about their condition and to social isolation as a coping strategy for dealing with stigma. This study provides insights that reinforce the continuous need to raise awareness about hereditary conditions at a societal level and their associated impacts, to provide specific training for healthcare professionals on the potential stigma attached to inherited conditions, and to implement national strategies to reduce stigmatisation.<\/jats:p>","DOI":"10.1007\/s12687-025-00784-5","type":"journal-article","created":{"date-parts":[[2025,3,27]],"date-time":"2025-03-27T14:45:05Z","timestamp":1743086705000},"page":"873-887","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Stigmatisation experiences in families with hereditary conditions: an exploratory study"],"prefix":"10.1007","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-1803-9321","authenticated-orcid":false,"given":"Joana","family":"Oliveira","sequence":"first","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8766-7646","authenticated-orcid":false,"given":"\u00c1lvaro","family":"Mendes","sequence":"additional","affiliation":[]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6535-4315","authenticated-orcid":false,"given":"Milena","family":"Paneque","sequence":"additional","affiliation":[]}],"member":"297","published-online":{"date-parts":[[2025,3,25]]},"reference":[{"key":"784_CR1","unstructured":"Abbey S, Charbonneau M, Tranulis C, Moss P, Baici W, Dabby L, Gautam M, Par\u00e9 M (2011) Stigma and discrimination. 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