Molecular epidemiology is a branch of 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" was integrated to create 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. 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
- Molecular pathological epidemiology
- Molecular pathology
- Personalized medicine
- Precision medicine
- "What is Molecular Epidemiology?". Molecular Epidemiology Homepage. University of Pittsburgh. 28 July 1998. Retrieved 15 January 2010.
- "What is Molecular Epidemiology?". aacr.org. Retrieved 2008-02-19.
- Kilbourne ED (Apr 1973). "The molecular epidemiology of influenza". J Infect Dis. 127 (4): 478–87. PMID 4121053.
- Schulte, Paul A.; Perera, Frederica P. (1993). Molecular Epidemiology: Principles and Practice. Academic Press. p. 588. ISBN 0-12-632346-1.
- "IMETAF". Retrieved 2009-07-27.
- MEG-UK http://www.ukems.org/groups/meg/
|url=missing title (help). Retrieved 2009-07-27.
- Ambrosone, CB; Kadlubar, FF (August 1997). "Formation of a molecular epidemiology group?". Cancer Epidemiology, Biomarkers and Prevention 6 (8): 651–653. PMID 9264281.
- "Molecular Epidemiology Working Group (MEG)". American Association for Cancer Research. Retrieved 2014-03-21.
- Ogino S, Lochhead P, Chan AT, Nishihara R, Cho E, Wolpin BM, Meyerhardt AJ, Meissner A, Schernhammer ES, Fuchs CS, Giovannucci E. Molecular pathological epidemiology of epigenetics: emerging integrative science to analyze environment, host, and disease. Mod Pathol 2013;26:465-484.
- Sherman ME, Howatt W, Blows FM, Pharoah P, Hewitt SM, Garcia-Closas M. Molecular pathology in epidemiologic studies: a primer on key considerations. Cancer Epidemiol Biomarkers Prev 2010;19(4):966-972.
- Ogino S, King EE, Beck AH, Sherman ME, Milner DA, Giovannucci E. Interdisciplinary education to integrate pathology and epidemiology: Towards molecular and population-level health science. Am J Epidemiol 2012;176:659-667.
- Kuller LH. Invited commentary: the 21st century epidemiologist--a need for different training? Am J Epidemiol 2012;176(8):668-671.
- Ogino S, Beck AH, King EE, Sherman ME, Milner DA, Giovannucci E. Ogino et al. respond to "The 21st century epidemiologist". Am J Epidemiol 2012;176:672-674.
- Ogino S, Stampfer M. Lifestyle factors and microsatellite instability in colorectal cancer: the evolving field of molecular pathological epidemiology. J Natl Cancer Inst 2010;102:365-367.
- Ogino S, Chan AT, Fuchs CS, Giovannucci E. Molecular pathological epidemiology of colorectal neoplasia: an emerging transdisciplinary and interdisciplinary field. Gut 2011;60:397-411
- Field AE, Camargo Jr CA, Ogino S. The merits of subtyping obesity: one size does not fit all. JAMA 2013;310:2147-2148.
- Curtin K, Slattery ML, Samowitz WS. CpG island methylation in colorectal cancer: past, present and future. Pathology Research International 2011; 2011: 902674.
- Hughes LA, Khalid-de Bakker CA, Smits KM, van den Brandt PA, Jonkers D, Ahuja N, Herman JG, Weijenberg MP, van Engeland M. The CpG island methylator phenotype in colorectal cancer: Progress and problems. Biochim Biophys Acta 2012; 1825: 77-85.
- Ku CS, Cooper DN, Wu M, Roukos DH, Pawitan Y, Soong R, Iacopetta B. Gene discovery in familial cancer syndromes by exome sequencing: prospects for the elucidation of familial colorectal cancer type X. Mod Pathol 2012; 25: 1055-68.
- Chia WK, Ali R, Toh HC. Aspirin as adjuvant therapy for colorectal cancer-reinterpreting paradigms. Nat Rev Clin Oncol 2012; 9: 561-70.
- Spitz MR, Caporaso NE, Sellers TA. Integrative cancer epidemiology--the next generation. Cancer Discov 2012; 2: 1087-90.
- Zaidi N, Lupien L, Kuemmerle NB, Kinlaw WB, Swinnen JV, Smans K. Lipogenesis and lipolysis: The pathways exploited by the cancer cells to acquire fatty acids. Prog Lipid Res 2013; 52: 585-9.
- Ikramuddin S, Livingston EH. New Insights on Bariatric Surgery Outcomes. JAMA 2013; 310: 2401-2.
- MEG/AACR homepage of the Molecular Epidemiology Group of the American Association for Cancer Research
- MEG-UK homepage of the United Kingdom Environmental Mutagen Society (UKMES) Molecular Epidemiology Group
- 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