Molecular epidemiology is a branch of epidemiology and medical science that focuses on the contribution of potential genetic and environmental risk factors, identified at the molecular level, to the etiology, distribution and prevention of disease within families and across populations. This field has emerged from the integration of molecular biology into traditional epidemiologic research. Molecular epidemiology improves our understanding of the pathogenesis of disease by identifying specific pathways, molecules and genes that influence the risk of developing disease.
The term "molecular epidemiology" was first coined by Kilbourne in a 1973 article entitled "The molecular epidemiology of influenza". The term became more formalised with the formulation of the first book on Molecular Epidemiology: Principles and Practice by Schulte and Perera. At the heart of this book is the impact of advances in molecular research that have given rise to and enable the measurement and exploitation of the biomarker as a vital tool to link traditional molecular and epidemiological research strategies to understand the underlying mechanisms of disease in populations. Since Kilbourne's use of the term "molecular epidemiology" there has been a steady growth in the use of the term in the scientific articles where over 2500 articles have been published by 2009. In the overall scheme of things, for this time frame, this would not ordinarily be deemed a large number however, yet this does not include the vast explosion of scientific literature on biomarkers, genetics, enzymology as well as molecular and cell biology in relation to disease, all of which lend themselves, but which may not be recognised as, to the concepts and philosophies of molecular epidemiology.
In 1993, around the same time as Schulte and Perera published their book, there was also the formation of the International Molecular Epidemiology Task Force (IMETAF). This was an ambitious venture, which may have been catalysed by the enthusiasm and expertise drawn together in the preparation of the book but IMETAF does not, despite the meritable objectives, seem to have survived. More than likely its demise was due to its objectives perhaps being ahead of their time in a period of very dynamic change in terms of the molecular and genetic revolution that was underway and researchers' focus being on this and where it would take them. However if anything IMETAF is likely to have been a catalyst to the consideration of Molecular Epidemiology at more manageable National Levels where sustainability would also be more likely. One such example is the formation in 1996 of the Molecular Epidemiological Group (MEG-UK) of the United Kingdom Environmental Mutagen Society (UKEMS). Another example, which also reflects how the field of Cancer Research has probably been the most proactive in embracing the term Molecular Epidemiology in a broadest sense was the formation around the same time of Molecular Epidemiology Group of the American Association of Cancer Research MEG/AACR.,
While most molecular epidemiology studies are using conventional disease designation system for an outcome (with the use of exposures at the molecular level), compelling evidence indicates that disease evolution represents inherently heterogeneous process differing from person to person. Conceptually, each individual has a unique disease process different from any other individual ("the unique disease principle"), considering uniqueness of the exposome and its unique influence on molecular pathologic process in each individual. Studies to examine the relationship between an exposure and molecular pathologic signature of disease (particularly, cancer) became increasingly common throughout the 2000s. However, the use of molecular pathology in epidemiology posed unique challenges including lack of standardized methodologies and guidelines as well as paucity of interdisciplinary experts and training programs. The use of "molecular epidemiology" for this type of research masked the presence of these challenges, and hindered the development of methods and guidelines. Furthermore, the concept of disease heterogeneity appears to conflict with the premise that individuals with the same disease name have similar etiologies and disease processes.
To resolve these issues and address the paradigm shift, molecular pathology and epidemiology were integrated into an interdisciplinary field of molecular pathological epidemiology (MPE), defined as epidemiology of molecular pathology and heterogeneity of disease. A better understanding of heterogeneity of disease pathogenesis can further help to elucidate etiologies of disease. The MPE approach can be applied to not only neoplastic diseases but also non-neoplastic diseases. The concept and paradigm of MPE have become widespread in the 2010s.[third-party source needed] It can be regarded that "molecular epidemiology" broadly encompasses MPE and conventional-type molecular epidemiology (with the use of traditional disease designation system, but not molecular subclassification system).
- Genetic epidemiology
- Genome-wide association study
- Molecular medicine
- Personalized medicine
- Precision medicine
- Miquel Porta
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- mEpiWorks homepage of the International Working Group for Molecular Epidemiology (mEpiWorks) - an informal community to support the use of molecular tools in veterinary epidemiology
- Int J Molec Epidemiol Genet homepage of International Journal of Molecular Epidemiology and Genetics
- e-CPC homepage of e-Century Publishing Corporation
- Clinical and Molecular Epidemiology of Cancer Jul. 2014