Principles and Foibles of Precision Medicine

Abstract

• Introduction

The term “precision medicine” is used often as a positive phrase to summarize vaguely the future of a medicine, which is supported massively by digital inventions, artificial intelligence, and IT-infrastructures. The vague term allows many persons in policy and management to sell their ideas in a positive colorful form to believers. However, because of its vagueness the term is also hiding substantial problems of the clinical fields in the future, which are not easy to solve.

• Goal

To focus on open questions and specifically address the challenges of the new data rich medicine and how to enable in the future a personal, empathic, and trustful exchange between doctors and patients in a constantly changing knowledge environment. It shall become clear that “precision medicine” needs infrastructural and knowledge management inventions in the traditional health care systems and new IT-solutions to support collaboration between doctors and patients.

Material and Methods

The paper is based on personal experience regarding the clinical management and studies of rare diseases. In addition, it reflects publications analyzing the problems and the state of CDSS systems during 60 years after their first utilization. Further, it reflects publications of studies of the German National Council in Research Data Infrastructures (RFII).

• Results

Medical Schools tend to include usage of IT-technology and digital tools into their curriculum. Very slowly, this process is moving ahead. The issue is not very much addressed in the professional update training of physicians during their working life. The change into data based handling of knowledge in treatment processes and individual linking of patient data and therapeutic options is still in its early stage of development. The inclusion of KI-and CDSS tools into the clinical decision process and an adequate documentation of this is in its infancy. It needs to be understood and trained. A trustful personal exchange between doctors and patients about rare diseases and rare combinations of factors in a precision medicine diagnostic process also to include a documentation of diagnostic steps and therapeutic actions in a way that is understood by both of them. This is one of the key challenges in clinical reality on the long way to the promised precision medicine world. One option to support the documentation of facts and exchange between patients and doctors is the model of a digital twin linking data worlds of doctors and patients and supporting legally transparent decision flows. The digital twin concept is not easy to build up, but may be a key element in a new generation on IT systems in clinical medicine keeping the more and more complex and dynamic knowledge and data worlds understandable for all parties.

• Conclusion

The complexity of long-term data management for clinical purposes needs new structuring solutions because the currently available software systems optimize interfacing between different data worlds but do not focus of a productive physician – patient dialogue and its long-term documentation. Therefore, it is a good option to conceptualize the idea of a digital twin as data model for this purpose by a powerful design phase that is followed by efficiency and usability validation studies. Currently the ideas about a digital twin are often cited but systematic architectural research is missing. Corresponding to this research the medical faculties in the world have to modernize their curricula for empowering the next generations of doctors to work with such support tools for their dialogue with their patients – building up a new trust concept for empathic physician action which can be on the latest level of data based medical research and treatment knowledge.