CONCEPTUALISING A RELATIONAL, RESPONSIBILITY-BASED ACCOUNT OF GENETIC FAMILIAL RISK DISCLOSURE

Abstract

Patients with hereditary conditions may be advised to inform at-risk family members. However, current approaches to familial disclosure are dominated by individual-centric paradigms that prioritise patient autonomy, which may be unfair and difficult to justify where that information may benefit or prevent harm to others. This thesis aims to develop a relational account of familial disclosure with an approach that integrates qualitative research methods with normative analysis. The study focuses on Lynch syndrome and familial hypercholesterolemia, which are prevalent yet underdiagnosed. Fifty healthcare providers, patients and family members in Singapore were interviewed. This thesis holds that familial disclosure is a limited moral responsibility owed to family members and grounded on the principle of beneficence. This work’s novelty lies in its utilisation of responsibility as opposed to existing rights based approaches, and the development of a substantive framework that provides a pragmatic application to assessing responsibility.