Dimitra Konstantinidou

Institute for Ethics, History and Theory of Medicine, Ludwig Maximilian University of Munich

The development of genomic therapies, with their unprecedented precision and therapeutic power, has the potential to fundamentally transform medical practice. These therapies differ from traditional, previously predominant therapeutic approaches, which were based on population-based data. The personalised nature of genomic therapies offers new hope for patients belonging to small groups, such as those with rare diseases, or who carry unique mutations. This shift necessitates a redefinition of key concepts and methods in medicine, particularly with regard to evidence generation, evaluation and data collection in the context of individual treatment trials. Furthermore, it requires the adaptation of ethical and regulatory frameworks to address the specific challenges posed by these new therapies.

In particular, the ethical dichotomy between ‘research’ and ‘treatment’ – established for decades – is increasingly being called into question. Whilst this issue is already the subject of growing debate in American discourse, a comparable discussion is largely absent in German-speaking countries. This research gap represents a significant normative problem, as the distinction is no longer convincing in the context of individual therapies, given that established evaluation methods such as large randomised controlled trials are not applicable. As therapeutic decisions and the generation of knowledge increasingly converge, this has direct ethical and practical implications for key issues such as informed consent.

This traditional distinction between ‘research’ and ‘treatment’ proves to be ethically inadequate for individual genomic therapies. The aim of this article is therefore not only to shed light on the ongoing debate, but also to take a clear stance on genomic therapies, highlight their dynamics and propose a conceptual framework. In doing so, the introduction of a Learning Health System is proposed as an approach to bridging this divide. With certain adjustments, the implementation of such a system appears not only feasible but also ethically justified – at least in the context of genomic therapies.