The applications of big data in molecular diagnostics

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.