The applications of big data in molecular diagnostics.

Autor: Wong YKE; Department of Health Technology and Informatics, Hong Kong Polytechnic University , Hong Kong Special Administrative Region., Lam KW; Department of Health Technology and Informatics, Hong Kong Polytechnic University , Hong Kong Special Administrative Region., Ho KY; Department of Health Technology and Informatics, Hong Kong Polytechnic University , Hong Kong Special Administrative Region., Yu CSA; Codex Genetics Limited , Hong Kong Special Administrative Region., Cho WC; Department of Clinical Oncology, Queen Elizabeth Hospital , Hong Kong Special Administrative Region., Tsang HF; Department of Health Technology and Informatics, Hong Kong Polytechnic University , Hong Kong Special Administrative Region., Chu MKM; Department of Life Science, The Hong Kong University of Science and Technology , Hong Kong Special Administrative Region., Ng PWL; Department of Pathology, Queen Elizabeth Hospital , Hong Kong Special Administrative Region., Tai CSW; Department of Applied Biology and Chemical Technology, Hong Kong Polytechnic University , Hong Kong Special Administrative Region., Chan LWC; Department of Health Technology and Informatics, Hong Kong Polytechnic University , Hong Kong Special Administrative Region., Wong EYL; Department of Health Technology and Informatics, Hong Kong Polytechnic University , Hong Kong Special Administrative Region., Wong SCC; Department of Health Technology and Informatics, Hong Kong Polytechnic University , Hong Kong Special Administrative Region.
Jazyk: angličtina
Zdroj: Expert review of molecular diagnostics [Expert Rev Mol Diagn] 2019 Oct; Vol. 19 (10), pp. 905-917. Date of Electronic Publication: 2019 Aug 29.
DOI: 10.1080/14737159.2019.1657834
Abstrakt: Introduction : Big Data technologies instilled an informational perspective to our understanding of the world. However, fundamental issues such as the management and storage of data can create privacy concerns. Heterogeneous types of data pose challenges in reproducibility and standardization. It is now an opportunity for us to help the health-care professionals, educators, and policy-makers understand the impact of Big Data, and steer the development roadmap to positively impact the molecular diagnostic industry. Area covered : In this review, we discuss the latest trends in applying Big Data to several key areas of molecular diagnostics: metagenomics, Mendelian disease screening, personalized medicine, and metabolomics. The limitations of utilizing bioinformatics and Big Data analytic tools are also summarized. We further propose an action plan on how to prepare a new generation of health-care professionals to step into the age of Big Data through a tailor-made bioinformatics training program. Expert opinion : In order to cope with the development of these powerful technologies, issues of ethics, regulations, and data format standardization are urgently needed. Besides, a long-term planning to train medical scientists, pathologists, and specialists on bioinformatics is necessary. It is an appropriate time to review all these issues before implementing these tests for patients' diagnosis, prognosis and treatment efficacy.
Databáze: MEDLINE