Precision Medicine Informatics: Principles, Prospects, and Challenges

TL;DR

This paper surveys the role of informatics in advancing Precision Medicine, discussing enabling tools, technological paradigms, challenges, and proposing a holistic framework for future research and implementation.

Contribution

It provides a comprehensive review of informatics approaches in Precision Medicine and introduces an integrated framework to guide future research and deployment.

Findings

Identifies key informatics tools and techniques for PM

Highlights the role of big data, AI, and IoT in PM

Proposes a holistic framework for PM implementation

Abstract

Precision Medicine (PM) is an emerging approach that appears with the impression of changing the existing paradigm of medical practice. Recent advances in technological innovations and genetics, and the growing availability of health data have set a new pace of the research and imposes a set of new requirements on different stakeholders. To date, some studies are available that discuss about different aspects of PM. Nevertheless, a holistic representation of those aspects deemed to confer the technological perspective, in relation to applications and challenges, is mostly ignored. In this context, this paper surveys advances in PM from informatics viewpoint and reviews the enabling tools and techniques in a categorized manner. In addition, the study discusses how other technological paradigms including big data, artificial intelligence, and internet of things can be exploited to advance the potentials of PM. Furthermore, the paper provides some guidelines for future research for seamless implementation and wide-scale deployment of PM based on identified open issues and associated challenges. To this end, the paper proposes an integrated holistic framework for PM motivating informatics researchers to design their relevant research works in an appropriate context.