Background: To deliver appropriate support to patients and their families, it is central to know the needs of those affected by a disease. As a chronic disease, Hereditary Chronic Pancreatitis (HCP) usually accompanies those affected for their lifetime and can lead to substantial psychological and social consequences for the individuals affected and their families. Since the subjective experience of individuals living with HCP has not yet been investigated, the current PhD thesis examines the ethical and social issues which arise in the context of HCP. Methods: To get a comprehensive overview of the ethical and social issues involved, different methods were combined. A qualitative study with patients and their relatives was conducted to acquire an understanding of living with HCP. Based on the issues identified, ethical and conceptual analyses and a systematic review were conducted to supplement the empirical findings. Results: Twenty-four individual interviews and one focus group were conducted. The participants described HCP as a continuous but unstable part of their lives. The ‘shifting perspectives model’ by Paterson covers this experience adequately, but due to the shifting character of HCP, the participants reported pathologization as a problematical issue in their lives. Additionally, the study demonstrates that genetic testing has a wide influence in familial contexts and is accompanied by normative issues, e.g. related to reproductive decisions. The study revealed ...