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

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 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.

SUBMITTER: Ogino S

PROVIDER: S-EPMC4892980 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature

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

Ogino Shuji S Nishihara Reiko R VanderWeele Tyler J TJ Wang Molin M Nishi Akihiro A Lochhead Paul P Qian Zhi Rong ZR Zhang Xuehong X Wu Kana K Nan Hongmei H Yoshida Kazuki K Milner Danny A DA Chan Andrew T AT Field Alison E AE Camargo Carlos A CA Williams Michelle A MA Giovannucci Edward L EL

Epidemiology (Cambridge, Mass.) 20160701 4

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, obesit ...[more]

PMID: 26928707

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Project description:BackgroundPrecision medicine has been adopted in a range of clinical settings where omics data have led to greater characterisation of disease and stratification of patients into subcategories of phenotypes and pathologies. However, in orthopaedics, precision medicine lags behind other disciplines such as cancer. Joint registries have now amassed a huge body of data pertaining to implant performance which can be broken down into performance statistics for different material types in different cohorts of patients. The National Joint Registry of England, Wales and Northern Ireland (NJR) is now one of the largest datasets available. Other registries such as those from Sweden and Australia however contain longer follow-up. Together, these registries can provide a wealth of informative for the orthopaedics community when considering which implant to give to any particular patient.Questions/purposesWe aim to explore the benefits of combining multiple large data streams including joint registries, published data on osteoarthritis (OA) pathogenesis and pathology and data concerning performance of each implant material combination in terms of biocompatibility. We believe that this analysis will provide a comprehensive overview of implant performance hopefully aiding surgeons in making more informed choices about which implant should be used in which patient.MethodsData from three joint registries were combined with established literature to highlight the heterogeneity of OA disease and the different clinical outcomes following arthroplasty with a range of material types.ResultsThis review confirms that joint registries are unable to consider differences in arthritis presentation or underlying drivers of pathology. OA is now recognised to present with varying pathology with differing morbidity in different patient populations. Equally, just as OA is a heterogeneous disease, there are disparate responses to wear debris from different material combinations used in joint replacement surgery. This has been highlighted by recent high-profile scrutiny of early failure of metal-on-metal total hip replacement (THR) implants.ConclusionsBringing together data from joint registries, biomarker analysis, phenotyping of OA patients and knowledge of how different patients respond to implant debris will lead to a truly personalised approach to treating OA patients, ensuring that the correct implant is given to the correct patient at the correct time.

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

Publications

Review Article: 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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