Send to

Choose Destination
Epidemiology. 2016 Jul;27(4):602-11. doi: 10.1097/EDE.0000000000000471.

Review Article: The Role of Molecular Pathological Epidemiology in the Study of Neoplastic and Non-neoplastic Diseases in the Era of Precision Medicine.

Author information

From the aDepartment of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA; bDivision of MPE Molecular Pathological Epidemiology, Brigham and Women's Hospital, Boston, MA; cDepartment of Pathology, Brigham and Women's Hospital, and Harvard Medical School, Boston, MA; dDepartment of Medical Oncology, Dana-Farber Cancer Institute, and Harvard Medical School, Boston, MA; eDepartment of Nutrition, Harvard T.H. Chan School of Public Health, Boston, MA; fDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA; gYale Institute for Network Science, Yale University, New Haven, CT; hInstitute of Medical Sciences, University of Aberdeen, Aberdeen, United Kingdom; iDivision of Gastroenterology, Massachusetts General Hospital, Boston, MA; jChanning Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, and Harvard Medical School, Boston, MA; kDepartment of Epidemiology, Richard M. Fairbanks School of Public Health, Melvin and Bren Simon Cancer Center, Indiana University, Indianapolis, IN; lDivision of Rheumatology, Immunology and Allergy, Department of Medicine, Brigham and Women's Hospital, and Harvard Medical School, Boston, MA; mDepartment of Immunology and Infectious Diseases, Harvard T.H. Chan School of Public Health, Boston, MA, USA; nDivision of Adolescent/Young Adult Medicine, Boston Children's Hospital, Boston, MA; and oDepartment of Emergency Medicine, Massachusetts General Hospital, Boston, MA.


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 Meeting Series, and the Strengthening the Reporting of Observational Studies in Epidemiology-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.

[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Wolters Kluwer Icon for PubMed Central
Loading ...
Support Center