Open Access

Regina Mueller

• 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 the broad range of ethical and social issues that those affected by HCP face. In this context, patient advocacy organizations (PAOs) are seen as an important source of support by patients and their families. Discussion: Given the various tasks ascribed to PAOs, it is unclear what roles PAOs have and what responsibilities they bear. Although the conceptual analysis and the systematic review provided an orientation about PAOs’ responsibility, no general answer can be given. Instead, each PAO and its specific situation must be evaluated individually. Responsibility as a relational concept can help to structure these situations and to understand the role of PAOs in the healthcare sector and in current bioethical debates better. Conclusion: The thesis provides empirical and conceptual findings on the ethical and social issues in the context of a rare, genetically determined, chronic disease. It is important to recognize these three dimensions and their interplay to deliver optimal care to those affected. The results build a comprehensive starting point for healthcare professionals managing genetically determined, chronic diseases, but more research is needed to bring the results of this thesis into practice.