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      The Role of Molecular Pathological Epidemiology in the Study of Neoplastic and Non-Neoplastic Diseases in the Era of Precision Medicine

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          Abstract

          Molecular pathology diagnostics to subclassify diseases based on pathogenesis are increasingly common in clinical translational medicine. Molecular pathological epidemiology (MPE) is an integrative transdisciplinary science based on the unique disease principle and the disease continuum theory. While it has been most commonly applied to research on breast, lung, and colorectal cancers, MPE can investigate etiologic heterogeneity in non-neoplastic diseases such as cardiovascular diseases, obesity, diabetes mellitus, drug toxicity, and immunity-related and infectious diseases. This science can enhance causal inference by linking putative etiologic factors to specific molecular biomarkers as outcomes. Technological advances increasingly enable analyses of various -omics, including genomics, epigenomics, transcriptomics, proteomics, metabolomics, metagenomics, microbiome, immunomics, interactomics, etc. Challenges in MPE include sample size limitations (depending on availability of biospecimens or biomedical / radiological imaging), need for rigorous validation of molecular assays and study findings, and paucities of interdisciplinary experts, education programs, international forums, and standardized guidelines. To address these challenges, there are ongoing efforts such as multidisciplinary consortium pooling projects, the International Molecular Pathological Epidemiology (MPE) Meeting Series, and the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE)-MPE guideline project. Efforts should be made to build biorepository and biobank networks, and worldwide population-based MPE databases. These activities match with the purposes of the Big Data to Knowledge (BD2K), Genetic Associations and Mechanisms in Oncology (GAME-ON), and Precision Medicine Initiatives of the United States National Institute of Health. Given advances in biotechnology, bioinformatics, and computational / systems biology, there are wide open opportunities in MPE to contribute to public health.

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          Author and article information

          Journal
          9009644
          1090
          Epidemiology
          Epidemiology
          Epidemiology (Cambridge, Mass.)
          1044-3983
          1531-5487
          9 April 2016
          July 2016
          01 July 2017
          : 27
          : 4
          : 602-611
          Affiliations
          [a ]Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA, USA
          [b ]Division of MPE Molecular Pathological Epidemiology, Brigham and Women’s Hospital, Boston, MA, USA
          [c ]Department of Pathology, Brigham and Women’s Hospital, and Harvard Medical School, Boston, MA, USA
          [d ]Department of Medical Oncology, Dana-Farber Cancer Institute, and Harvard Medical School, Boston, MA, USA
          [e ]Department of Nutrition, Harvard T.H. Chan School of Public Health, Boston, MA, USA
          [f ]Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA
          [g ]Yale Institute for Network Science, Yale University, New Haven, CT, USA
          [h ]Institute of Medical Sciences, University of Aberdeen, Aberdeen, UK
          [i ]Division of Gastroenterology, Massachusetts General Hospital, Boston, MA, USA
          [j ]Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital, and Harvard Medical School, Boston, MA, USA
          [k ]Department of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin and Bren Simon Cancer Center, Indiana University, Indianapolis, IN, USA
          [l ]Division of Rheumatology, Immunology and Allergy, Department of Medicine, Brigham and Women’s Hospital, and Harvard Medical School, Boston, MA, USA
          [m ]Department of Immunology and Infectious Diseases, Harvard T.H. Chan School of Public Health, Boston, MA, USA
          [n ]Division of Adolescent/Young Adult Medicine, Boston Children’s Hospital, Boston, MA, USA
          [o ]Department of Emergency Medicine, Massachusetts General Hospital, Boston, MA, USA
          Author notes
          Corresponding author: Shuji Ogino, MD, PhD, MS, Division of MPE Molecular Pathological Epidemiology, Brigham and Women’s Hospital, 450 Brookline Ave., Room M422, Boston, MA 02215 USA, Telephone: +1-617-632-1972; Fax: +1-617-582-8558, shuji_ogino@ 123456dfci.harvard.edu
          Article
          PMC4892980 PMC4892980 4892980 nihpa776074
          10.1097/EDE.0000000000000471
          4892980
          26928707
          473d0375-4336-4e54-932c-3fe357fa654e
          History
          Categories
          Article

          unique tumor principle,epidemiologic methods,informatics,integrative epidemiology,molecular pathologic epidemiology,translational epidemiology

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