Precision Medicine Informatics: Principles, Prospects, and Challenges

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.

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“…Numerous muscular disorders overlap phenotypically with MFM. NGS-based genetic analyses can resolve clinical dilemmas and facilitate exact diagnosis [ 25 , 26 ]. Additionally, with the reporting of new cases, the reported clinical manifestations of mutations in a given gene are likely to expand.…”

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“…Although various initiatives have worked in this line to facilitate the adoption of the data standards especially in the omics discipline such as BioSharing, (works to ensure the standards are searchable and informative. ), to extend the existing standards, the relevant stakeholders should cooperate to educate the potential adopters for understanding and using the existing data standards [21].…”

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