Genetic information obtained about one person simultaneously reveals information about their biological relatives, yet considerable variation exists in how families are considered and involved across clinical genetics. This thesis investigates the role of the family in clinical genetics, with the specific aim of determining how families should be considered and involved in genetic healthcare. The central questions driving this investigation are: How do healthcare practitioners and scholars currently conceptualise family consideration and involvement across clinical genetics? What explains the variation in these approaches? Most importantly, which approach provides the most coherent guidance for practice, and how can such a conclusion be justified? First, a narrative literature review of 297 publications (2015–2025) identifies five distinct approaches to family involvement: individual-based, proband-led, intermediate, hybrid, and family-based. The review reveals that proband-led approaches dominate current practice (33 percent of included publications), yet only 21 percent of publications explicitly justify their chosen approach, and only 14 percent advance a normative argument—indicating the literature in this area is predominantly descriptive. Second, conceptual analysis introduces two frames underlying these approaches: the individual frame (emphasising autonomy, privacy, and individual decision-making) and the family frame (emphasising interdependence and shared responsibility). Each approach represents different weightings of these frames, explaining persistent tensions in practice. Third, this thesis derives normative guidance from the activity of genetic counselling itself. By examining genetic risk—a constitutive feature of genetic counselling—as inherently familial, probabilistic, and transgenerational, this thesis demonstrates that genetic risk is fundamentally relational in nature. This relational nature provides justification for approaches that recognise individuals as embedded within family networks while respecting individual autonomy. This thesis contributes a taxonomy of approaches, conceptual frameworks illuminating normative commitments, and a relational approach to practice derived from internal features of professional practice rather than external principles.
Joseph Allen Mackle (Sun,) studied this question.