Hereditary chronic pancreatitis (HCP) is a genetically determined condition characterized by intermittent acute episodes of pancreatitis and long-term impairment of the exocrine and endocrine pancreatic functions. Genetic test results can have substantial psychological and social consequences for the individuals tested and their families. Nevertheless, little is known so far about the subjective experience of individuals genetically tested for HCP. This qualitative study examines the viewpoints of HCP patients and their relatives in order to identify the psychosocial and ethical implications related to genetic testing within families. Semi-structured qualitative individual interviews and a focus group with HCP patients and their family members were conducted. Data were audio-recorded, transcribed verbatim and analysed using qualitative content analysis. A total of 28 individuals were enrolled in the study: 24 individuals (17 patients, 7 relatives) were interviewed in semi-structured one-on-one interviews and 4 individuals (2 patients, 2 life partners) participated in the focus group. Emerging topics covered (1) genetic testing in childhood, (2) genetic testing within the family and (3) family planning. The study reveals that genetic testing for HCP has a wide influence in familial contexts and is accompanied by normative issues, such as autonomy, reproductive decisions and sharing of information within the family. The results raise the awareness of the complexity of family contexts: familial relationships and dynamics can have great influence on the individual decisions related to genetic testing. Increased understanding of these relational contexts can help health professionals, for example, in counselling, to discuss genetic testing better with patients and families.

遗传性慢性胰腺炎 (HCP) 是一种由基因决定的疾病，其特征是胰腺炎的间歇性急性发作和胰腺外分泌和内分泌功能的长期损害。基因检测结果会对被检测者及其家人产生重大的心理和社会影响。然而，到目前为止，对 HCP 基因检测个体的主观体验知之甚少。这项定性研究考察了 HCP 患者及其亲属的观点，以确定与家庭内基因检测相关的社会心理和伦理影响。对 HCP 患者及其家庭成员进行了半结构化的定性个人访谈和焦点小组。数据被录音，逐字转录并使用定性内容分析进行分析。共有 28 人参加了研究：24 人（17 名患者，7 名亲属）在半结构化的一对一访谈中接受了采访，4 人（2 名患者，2 名生活伴侣）参加了焦点小组。新兴主题涵盖 (1) 儿童时期的基因检测，(2) 家庭内的基因检测和 (3) 计划生育。该研究表明，HCP 的基因检测在家庭环境中具有广泛的影响，并伴随着规范性问题，例如自主权、生育决定和家庭内的信息共享。结果提高了对家庭环境复杂性的认识：家庭关系和动态可以对与基因检测相关的个人决定产生重大影响。