Integration of molecular pathology, epidemiology and social science for global precision medicine

Abstract

Summary The precision medicine concept and the unique disease principle imply that each patient has unique pathogenic processes resulting from heterogeneous cellular genetic and epigenetic alterations, and interactions between cells (including immune cells) and exposures, including dietary, environmental, microbial, and lifestyle factors. As a core method field in population health science and medicine, epidemiology is a growing scientific discipline that can analyze disease risk factors, and develop statistical methodologies to maximize utilization of big data on populations and disease pathology. The evolving transdisciplinary field of molecular pathological epidemiology (MPE) can advance biomedical and health research by linking exposures to molecular pathologic signatures, enhancing causal inference, and identifying potential biomarkers for clinical impact. The MPE approach can be applied to any diseases, although it has been most commonly used in neoplastic diseases (including breast, lung and colorectal cancers) because of availability of various molecular diagnostic tests. However, use of state-of-the-art genomic, epigenomic and other omic technologies and expensive drugs in modern healthcare systems increases racial, ethnic and socioeconomic disparities. To address this, we propose to integrate molecular pathology, epidemiology, and social science. Social epidemiology integrates the latter two fields. The integrative social MPE model can embrace sociology, economics and precision medicine, address global health disparities and inequalities, and elucidate biological effects of social environments, behaviors, and networks. We foresee advancements of molecular medicine, including molecular diagnostics, biomedical imaging, and targeted therapeutics, which should benefit individuals in a global population, by means of an interdisciplinary approach of integrative MPE and social health science.

Associations between folate metabolism enzyme polymorphisms and breast cancer: A meta‐analysis

“…Second, to more precisely measure the effects of certain genetic factors on disease occurrence and development, gene‐environmental interactions should also be considered. However, since included studies only focused on the effects of certain gene polymorphisms on individual susceptibility to BC, such analyses were not applicable in the current meta‐analysis . Third, it should be noted that a recent meta‐analyses conducted by Kumar et al also tried to explore potential associations between MTHFR rs1801133 variant and BC.…”

Transdisciplinary approaches enhance the production of translational knowledge

“…79, 80 These are just a few examples but we emphasize that epidemiology continues to spur synergy in new ways. Among the newest epidemiology-based transdisciplines are epigenetic epidemiology 81–83 and molecular pathological epidemiology 84, 85 . These transdisciplines are demonstrating that when molecular biologists, pathologists, and epidemiologists collaborate, they can evaluate molecular factors in new ways that permit the identification of etiologic subgroups and the physiologic mechanisms of disease.…”

Prospects of Molecular Biotechnology in Diagnostics: Step Towards Precision Medicine

“…Such fusion proteins are probable targets for targeted cancer therapies. For example, imatinib mesylate (Gleevec Ò ) targets the BCR-ABL fusion protein that is generated from pieces of two genes that get joined together in some leukemia cells and promotes the growth of leukemic cells [2].…”