Molecular epidemiology

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.^[1] This field has emerged from the integration of molecular biology into traditional epidemiological 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.^[2]^[3] More broadly, it seeks to establish understanding of how the interactions between genetic traits and environmental exposures result in disease.^[4]

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>> [singing] Ain't no sunshine when she's gone. Go ahead, sing, your verse. [singing] Only darkness everyday. We're molecular epidemiologists. We're working on the translation of HPV, human papillomavirus, infection research into cervical cancer prevention, but we work on vaccines, HPV vaccine. And, does it work? Does the intervention change outcome? So we blend with laboratory scientists who invent, and then we try to say, is what you're finding usable and translatable to the clinical or the population screening situation. That's a wonderful, wonderful thing here is to be able to walk down the hall and talk to the most brilliant scientists. >> It's hard to imagine the research and what I've learned without having the pathologists and the clinicians and the biostatisticians to turn to and learn how to apply what we're finding and how to interpret our analyses, and it wouldn't be possible. >> In the Intramural Research Program, we're allowed and we have the ability to think long and big. We really have cohorts that have lasted 20 years. This would be very hard to fund on grants. The team of people who I've worked with -- this large team of scientists working with papillomavirus that have transformed our understanding of cervical cancer and are now changing the way cervical cancer is prevented -- we're impacting on millions of people, and it's not me, but it's us. And, I don't think that most women love to have pelvic exams and pap smears every year, so if we can, on the most quotidian level, extend that out so that it's every five years, that's a nice thing. But even more so if we can prevent cervical cancer, which is a horrible disease, in some people who we don't even know would've gotten it, that's a wonderful feeling. >> Is there anything else you want to say, Mark? >> [singing] Ain't no sunshine when she's gone. Go ahead, sing, your verse. [singing] Only darkness everyday.

History

The term "molecular epidemiology" was first coined by Edwin D. Kilbourne in a 1973 article entitled "The molecular epidemiology of influenza".^[5] The term became more formalized with the formulation of the first book on molecular epidemiology titled Molecular Epidemiology: Principles and Practice by Paul A. Schulte and Frederica Perera.^[6] At the heart of this book is the impact of advances in molecular research that have given rise to and enabled 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.^{[citation needed]}

Modern use

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"),^[7] 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.^[8]^[9] The use of "molecular epidemiology" for this type of research masked the presence of these challenges, and hindered the development of methods and guidelines.^[10]^[11] 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.

Analytical methods

The genome of a bacterial species fundamentally determines its identity. Thus, gel electrophoresis techniques like pulsed-field gel electrophoresis can be used in molecular epidemiology to comparatively analyze patterns of bacterial chromosomal fragments and to elucidate the genomic content of bacterial cells. Due to its widespread use and ability to analyse epidemiological information about most bacterial pathogens based on their molecular markers, pulsed-field gel electrophoresis is relied upon heavily in molecular epidemiological studies.^[12]

Applications

Molecular epidemiology allows for an understanding of the molecular outcomes and implications of diet, lifestyle, and environmental exposure, particularly how these choices and exposures result in acquired genetic mutations and how these mutations are distributed throughout selected populations through the use of biomarkers and genetic information. Molecular epidemiological studies are able to provide additional understanding of previously-identified risk factors and disease mechanisms.^[13] Specific applications include:

Molecular surveillance of disease risk factors
Measuring the geographical and temporal distribution of disease risk factors
Characterizing the evolution of pathogens and classifying new pathogen species^[14]

Criticism

While the use of advanced molecular analysis techniques within the field of molecular epidemiology is providing the larger field of epidemiology with greater means of analysis, Miquel Porta identified several challenges that the field of molecular epidemiology faces, particularly selecting and incorporating requisite applicable data in an unbiased manner.^[15] Limitations of molecular epidemiological studies are similar in nature to those of generic epidemiological studies, that is, samples of convenience - both of the target population and genetic information, small sample sizes, inappropriate statistical methods, poor quality control, and poor definition of target populations.^[16]

References

^ "What is Molecular Epidemiology?". Molecular Epidemiology Homepage. University of Pittsburgh. 28 July 1998. Retrieved 15 January 2010.
^ "What is Molecular Epidemiology?". aacr.org. Archived from the original on 2008-03-03. Retrieved 2008-02-19.
^ Miquel Porta, editor. Greenland S, Hernán M, dos Santos Silva I, Last JM, associate editors (2014). A dictionary of epidemiology, 6th. edition. New York: Oxford University Press. ISBN 9780199976737
^ Porta, M. (2002). "Incomplete overlapping of biological, clinical, and environmental information in molecular epidemiological studies: a variety of causes and a cascade of consequences". J Epidemiol Community Health. 56 (10): 734–738. doi:10.1136/jech.56.10.734. PMC 1732039. PMID 12239196.
^ Kilbourne ED (Apr 1973). "The molecular epidemiology of influenza". J Infect Dis. 127 (4): 478–87. doi:10.1093/infdis/127.4.478. PMID 4121053.
^ Schulte, Paul A.; Perera, Frederica P. (1993). Molecular Epidemiology: Principles and Practice. Academic Press. p. 588. ISBN 0-12-632346-1.
^ 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.
^ Goering, R. (6 August 2010). "Pulsed field gel electrophoresis: A review of application and interpretation in the molecular epidemiology of infectious disease". Infection, Genetics and Evolution. 10 (7): 866–875. doi:10.1016/j.meegid.2010.07.023. PMID 20692376.
^ Slattery, M. (2002). "The science and art of molecular epidemiology". J Epidemiol Community Health. 56 (10): 728–729. doi:10.1136/jech.56.10.728. PMC 1732025. PMID 12239192.
^ Field, N. (2014). "Strengthening the Reporting of Molecular Epidemiology for Infectious Diseases (STROME-ID): an extension of the STROBE statement" (PDF). Lancet Infect Dis. 14 (4): 341–352. doi:10.1016/S1473-3099(13)70324-4. PMID 24631223.
^ Porta, M. (2002). "Incomplete overlapping of biological, clinical, and environmental information in molecular epidemiological studies: a variety of causes and a cascade of consequences". J Epidemiol Community Health. 56 (10): 734–738. doi:10.1136/jech.56.10.734. PMC 1732039. PMID 12239196.
^ Slattery, M. (2002). "The science and art of molecular epidemiology". J Epidemiol Community Health. 56 (10): 728–729. doi:10.1136/jech.56.10.728. PMC 1732025. PMID 12239192.

This page was last edited on 28 October 2023, at 01:10

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