TY - JOUR
T1 - Precision Medicine Informatics
T2 - Principles, Prospects, and Challenges
AU - Afzal, Muhammad
AU - Riazul Islam, S. M.
AU - Hussain, Maqbool
AU - Lee, Sungyoung
N1 - Funding Information:
The European Union (EU) is putting forward numerous efforts to promote precision medicine in the European region. As the world’s biggest public-private partnership between the EU and the European pharmaceutical industry, the Innovative Medicine Initiative (IMI) facilitates collaborations between the stakeholders and provides grants and other financial support to major research projects [143]. The IMI in phase 2, which is the IMI 2 program (2014-2020), will get a total budget of e3.276 billion, which e1 billion came from the Health theme of the EU’s Seventh Framework Program for Research (FP7) and e1 billion came from in-kind contributions from EFPIA companies [144]. According to a report by ZION, the European precision medicine market is expected to reach approximately USD 72,800 Million by 2022 [145]. Under EU’s Horizon 2020 Program, Barcelona has started the European three-dimensional (3D) genomics project Multi-scale complex genomics with a goal to standardize experiments in 3D genomics and relevant activities, such as the storage of data. The project is allocated a budget of e3 million and will be conducted over three years [146]. The EU funded project PerMed, which is where representatives from EU Member States in conjunction with other associated countries and stakeholders, have developed a European strategy framework for personalized medicine [6]. PerMed [147] is the coordination and support action (CSA) of 27 partners that include European key stakeholders and decision makers to allow synergies, avoid duplication, and ensure maximum transparency for preparing Europe to lead the global way [148]. The International Consortium for Personalized Medicine (ICPerMed) is a voluntary EU Member states-led collaboration that brings together over 30 European and international partners to work on coordinating and fostering research to develop and evaluate personalized medicine [6], [149].
Funding Information:
This work was supported in part by the Ministry of Science and ICT (MSIT), South Korea, through the Information Technology Research Center (ITRC) Support Program under Grant IITP-2017-0-01629, and in part by the Institute for Information & Communications Technology Promotion (IITP), through the Korea Government (MSIT) under Grant 2017-0-00655 and Grant NRF-2019R1A2C2090504.
Funding Information:
Australia is perhaps the world’s first country to have a center specializing in precision medicine for infants and your children. It is funded at Murdoch University and has received $473,000 in funding from the WA Department of Health [150]. Precision medicine has the potential to transform Australia’s health care system, which was described in a report released by the Australian Council of Learning Academies (ACOLA) [151]. ACOLA has started a project on precision medicine with a goal to explore the current trends in precision medicine technologies and to broaden the implementation in the Australian context. In the ACOLA detailed report, there are 12 potential areas that are highlighted where precision medicine is likely to show significant impact in the next five to ten years [152]. Australian Genomics is a national network of clinicians, researchers, and diagnostic geneticists, and it is made up of more than 70 partners organizations with a vision to integrate genomic medicine into healthcare across Australia [153]. The National Health and Medical Research Council (NHMRC) awarded a $25 million grant in 2015 to Australian Genomics for a targeted call for research into preparing Australia for the genomics revolution in healthcare.
Publisher Copyright:
© 2013 IEEE.
PY - 2020/1/23
Y1 - 2020/1/23
N2 - 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 impose a set of new requirements on the different stakeholders. Some studies are available that discuss about the different aspects of PM. Nevertheless, a holistic representation of those aspects deemed to confer with the technological perspective, in relation to the applications and challenges, have been mostly ignored. In this context, this paper surveys the advances in PM from the informatics viewpoint and reviews the enabling tools and techniques in a categorized manner. In addition, the study discusses how other technological paradigms, which include big data, artificial intelligence, and the internet of things, can be exploited to advance the potentials of PM. Furthermore, the paper provides some guidelines for future research for a seamless implementation and a wide-scale deployment of PM based on the identified open issues and the associated challenges. As a result, the paper proposes an integrated holistic framework for PM motivating informatics researchers to design their relevant research work in an appropriate context.
AB - 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 impose a set of new requirements on the different stakeholders. Some studies are available that discuss about the different aspects of PM. Nevertheless, a holistic representation of those aspects deemed to confer with the technological perspective, in relation to the applications and challenges, have been mostly ignored. In this context, this paper surveys the advances in PM from the informatics viewpoint and reviews the enabling tools and techniques in a categorized manner. In addition, the study discusses how other technological paradigms, which include big data, artificial intelligence, and the internet of things, can be exploited to advance the potentials of PM. Furthermore, the paper provides some guidelines for future research for a seamless implementation and a wide-scale deployment of PM based on the identified open issues and the associated challenges. As a result, the paper proposes an integrated holistic framework for PM motivating informatics researchers to design their relevant research work in an appropriate context.
KW - artificial intelligence
KW - big data
KW - bioinformatics
KW - clinical decision support
KW - deep learning
KW - informatics
KW - machine learning
KW - Precision medicine
KW - the Internet of Things
UR - http://www.scopus.com/inward/record.url?scp=85079804832&partnerID=8YFLogxK
U2 - 10.1109/ACCESS.2020.2965955
DO - 10.1109/ACCESS.2020.2965955
M3 - Article
AN - SCOPUS:85079804832
VL - 8
SP - 13593
EP - 13612
JO - IEEE Access
JF - IEEE Access
SN - 2169-3536
M1 - 8957137
ER -