Yearb Med Inform 2004; 13(01): 137-143
DOI: 10.1055/s-0038-1638191
Review
Georg Thieme Verlag KG Stuttgart

Public Health Implications of Bioinformatics

V. Maojo
1   Biomedical Informatics Group, Artificial Intelligence Laboratory. Polytechnical University of Madrid, Boadilla del Monte 28660. Madrid, Spain
,
F. Martin-Sanchez
2   Bioinformatics Unit (BIOTIC), Institute of Health Carlos III, Majadahonda. Madrid, Spain
› Author Affiliations
Further Information

Address of the authors:

Victor Maojo
Biomedical Informatics Group
Artificial Intelligence Laboratory.
Polytechnical University of Madrid
Boadilla del Monte
28660 Madrid, Spain
Fernando Martin-Sanchez
Medical Bioinformatics Dept.
Institute of Health Carlos III
Majadahonda
Madrid, Spain

Publication History

Publication Date:
05 March 2018 (online)

 

Abstract:

Epidemiologists are reformulating their classical approaches to diseases by considering various issues associated to “omics” areas and technologies. Traditional differences between epidemiology and genetics include background, training, terminologies, study designs and others. Public health and epidemiology are increasingly looking forward to using methodologies and informatics tools, facilitated by the Bioinformatics community, for managing genomic information. Future microarray developments will also facilitate the analysis of entire genomes on single arrays, enhancing genetic epidemiology research. The use of biomarkers, biobanks, and integrated genomic/clinical databases poses serious challenges for bioinformaticians in order to extract useful information and knowledge for biomedical research and healthcare. In this regard, there are various ethical, privacy, informed consent and social implications that should be carefully addressed by researchers, practitioners and policy makers.


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  • References

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  • 2 Maojo V, Kulikowski CA. Bioinformatics and Medical Informatics: Collaboration on the Road to Genomic Medicine?. J Am Med Inform Assoc. In press. 2003
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  • 10 Martin-Sanchez F, Maojo V. Lopez-Campos G. Integrating genomics into health information systems. Methods Inf Med 2002; 41 (01) 25-30.
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  • 35 Weatherall D. Science and the Quiet Art. Medical Research & Patient Care. Oxford: Oxford University Press; 1995
  • 36 Noonan AS. Integrating genomics into US public health. Med 2002; Nov-Dec 4 (06) Suppl 68S-71S.
  • 37 Mostowy S, Behr MA. Comparative genomics in the fight against tuberculosis: diagnostics, epidemiology, and BCG vaccination. Am J Pharmacogenomics 2002; 2 (03) 189-96.
  • 38 Schork NJ, Fallin D, Lanchbury JS. Single nucleotide polymorphisms and the future of genetic epidemiology. Clin Genet 2000; Oct 58 (04) 250-64.
  • 39 Hoffman SL. Infectious disease. Research (genomics) is crucial to attacking malaria. Science 2000; Nov 24 290 5496 1509.
  • 40 Bertone P, Gerstein M. Integrative data mining: the new direction in bioinformatics. IEEE Eng Med Biol Mag 2001; Jul-Aug 20 (04) 33-40.
  • 41 Lindberg C. The Unified Medical Language System (UMLS) of the National Library of Medicine. J Am Med Rec Assoc 1990; May 61 (05) 40-2.
  • 42 The Gene Ontology Consortium. Gene Ontology: tool for the unification of biology. Nature Genetics 2000; 25: 25-29.
  • 43 Gilbert GL. Molecular diagnostics in infectious diseases and public health microbiology: cottage industry to postgenomics. Trends Mol Med 2002; Jun 8 (06) 280-7.
  • 44 Broder S, Hoffman SL, Hotez PJ. Cures for the Third World’s problems: the application of genomics to the diseases plaguing the developing world may have huge medical and economic benefits for those countries and might even prevent armed conflict. EMBO Rep 2002; Sep 3 (09) 806-12.
  • 45 Goldie SJ, Levin AR. MSJAMA. Genomics in medicine and public health: role of costeffectiveness analysis. JAMA 2001; Oct 3 286 (13) 1637-8.
  • 46 Visionary experimental designs. Nature 2001; Nov 8 414 6860 133 [No authors listed].
  • 47 Millikan R. The changing face of epidemiology in the genomics era. Epidemiology 2002; Jul 13 (04) 472-80.
  • 48 Maojo V, Martin-Sanchez F, Billhardt H, Iakovidis I, Kulikowski C. Establishing an agenda for biomedical informatics. Methods Inf Med 2003; 42 (02) 121-5.

Address of the authors:

Victor Maojo
Biomedical Informatics Group
Artificial Intelligence Laboratory.
Polytechnical University of Madrid
Boadilla del Monte
28660 Madrid, Spain
Fernando Martin-Sanchez
Medical Bioinformatics Dept.
Institute of Health Carlos III
Majadahonda
Madrid, Spain

  • References

  • 1 Butler D. Epidemiology set to get fasttrack treatment. Nature 2001; Nov 8 414 6860 139.
  • 2 Maojo V, Kulikowski CA. Bioinformatics and Medical Informatics: Collaboration on the Road to Genomic Medicine?. J Am Med Inform Assoc. In press. 2003
  • 3 Perera FP, Weinstein IB. Molecular epidemiology: recent advances and future directions. Carcinogenesis 2000; Mar 21 (03) 517-24.
  • 4 Furberg AH, Ambrosone CB. Molecular epidemiology, biomarkers and cancer prevention. Trends Mol Med 2001; Nov 7 (11) 517-21.
  • 5 Lilienfeld AM, Lilienfeld DE. The 1979 Health Clark lectures. ‘The epidemiologic fabric’. I—Weaving the threads. Int J Epidemiol 1980; Sep 9 (03) 199-206.
  • 6 Potter JD. At the interfaces of epidemiology, genetics and genomics. Nat Rev Genet 2001; Feb 2 (02) 142-7.
  • 7 Foxman B, Riley L. Molecular epidemiology: focus on infection. Am J Epidemiol 2001; Jun 15 153 (012) 1135-41.
  • 8 Beskow LM, Khoury MJ, Baker TG, Thrasher JF. The Integration of Genomics into Public Health Research, Policy and Practice in the United States. Community Genet 2001; Jul 4 (01) 2-11.
  • 9 Maojo V, Iakovidis I, Martin-Sanchez F, Crespo J, Kulikowski C. Medical informatics and bioinformatics: European efforts to facilitate synergy. J Biomed Inform 2001; Dec 34 (06) 423-7.
  • 10 Martin-Sanchez F, Maojo V. Lopez-Campos G. Integrating genomics into health information systems. Methods Inf Med 2002; 41 (01) 25-30.
  • 11 Collins FS, McKusick VA. Implications of the Human Genome Project for medical science. JAMA 2001; Feb 7 285 (05) 540-4.
  • 12 Collins FS, Guttmacher AE. Genetics moves into the medical mainstream. JAMA 2001; Nov 14 286 (018) 2322-4.
  • 13 Kohane I. Bioinformatics and Clinical Informatics: The Imperative to Collaborate. J Am Med Inform Assoc 2000; 7 5: 439-443.
  • 14 Kulikowski C. The Micro-Macro Spectrum of Medical Informatics. Challenges: From Molecular Medicine to Transforming Health Care in a Globalizing Society. Methods Inf Med 2001; 41: 20-4.
  • 15 Miller P. Opportunities at the Intersection of Bioinformatics and Health Informatics. J Am Med Inform Assoc 2000; 7 (05) 431-8.
  • 16 Altman R. The Interactions Between Clinical Informatics and Bioinformatics. J Am Med Inform Assoc 2000; 7 (05) 439-43.
  • 17 Henry CJ, Phillips R, Carpanini F, Corton JC, Craig K, Igarashi K. et al. Use of genomics in toxicology and epidemiology: findings and recommendations of a workshop. Environ Health Perspect 2002; Oct 110 (10) 1047-50.
  • 18 Benton D. Bioinformatics—principles and potential of a new multidisciplinary tool. Trends Biotechnol 1996; Aug 14 (08) 261-72.
  • 19 Roberts RJ. The early days of bioinformatics publishing. Bioinformatics 2000; Jan 16 (01) 2-4.
  • 20 Bairoch A. Serendipity in bioinformatics, the tribulations of a Swiss bioinformatician through exciting times. Bioinformatics 2000; Jan 16 (01) 48-64.
  • 21 Mount D. Bioinformatics: Sequence and Genome Analysis. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory; 2001
  • 22 van Belkum A, Struelens M, de Visser A, Verbrugh H, Tibayrenc M. Role of genomic typing in taxonomy, evolutionary genetics, and microbial epidemiology. Clin Microbiol Rev 2001; Jul 14 (03) 547-60.
  • 23 Dennise D. Dalma-Weiszhausz, Marina E. Chicurel, Thomas R. Gingeras Microarrays and Genetic Epidemiology: A Multipurpose Tool for a Multifaceted Field. Genetic Epidemiology 2002; 23: 4-20.
  • 24 Lander ES. et al. Initial sequencing and analysis of the human genome. Nature 2001; Feb 15 409 6822 860-921.
  • 25 Olden K, Wilson S. Environmental health and genomics: visions and implications. Nat Rev Genet 2000; Nov 1 (02) 149-53.
  • 26 Fauci AS. Infectious diseases: considerations for the 21st century. Clin Infect Dis 2001; Mar 1 32 (05) 675-85.
  • 27 Pang T. The impact of genomics on global health. Am J Public Health 2002; Jul 92 (07) 1077-9.
  • 28 Austin MA. Ethical issues in human genome epidemiology: a case study based on the Japanese American Family Study in Seattle, Washington. Am J Epidemiol 2002; Apr 1 155 (07) 585-92.
  • 29 Annas GJ. Rules for research on human genetic variation—lessons from Iceland. N Engl J Med 2000; Jun 15 342 (24) 1830-3.
  • 30 Cambon-Thomsen A. Assessing the impact of biobanks. Nat Genet 2003; May 34 (01) 25-6.
  • 31 Kaiser J. Biobanks. Population databases boom, from Iceland to the. U.S. Science 2002; Nov 8 298 5596 1158-61.
  • 32 Ellsworth DL, Manolio TA. The Emerging Importance of Genetics in Epidemiologic Research III. Bioinformatics and statistical genetic methods. Ann Epidemiol 1999; May 9 (04) 207-24.
  • 33 Institute of Medicine. The Future of Public Health. Washington, DC: National Academy Press; 1988
  • 34 Steinberg KK, Gwinn M, Khoury MJ. The role of genomics in public health and disease prevention. JAMA 2001; Oct 3 286 (13) 1635.
  • 35 Weatherall D. Science and the Quiet Art. Medical Research & Patient Care. Oxford: Oxford University Press; 1995
  • 36 Noonan AS. Integrating genomics into US public health. Med 2002; Nov-Dec 4 (06) Suppl 68S-71S.
  • 37 Mostowy S, Behr MA. Comparative genomics in the fight against tuberculosis: diagnostics, epidemiology, and BCG vaccination. Am J Pharmacogenomics 2002; 2 (03) 189-96.
  • 38 Schork NJ, Fallin D, Lanchbury JS. Single nucleotide polymorphisms and the future of genetic epidemiology. Clin Genet 2000; Oct 58 (04) 250-64.
  • 39 Hoffman SL. Infectious disease. Research (genomics) is crucial to attacking malaria. Science 2000; Nov 24 290 5496 1509.
  • 40 Bertone P, Gerstein M. Integrative data mining: the new direction in bioinformatics. IEEE Eng Med Biol Mag 2001; Jul-Aug 20 (04) 33-40.
  • 41 Lindberg C. The Unified Medical Language System (UMLS) of the National Library of Medicine. J Am Med Rec Assoc 1990; May 61 (05) 40-2.
  • 42 The Gene Ontology Consortium. Gene Ontology: tool for the unification of biology. Nature Genetics 2000; 25: 25-29.
  • 43 Gilbert GL. Molecular diagnostics in infectious diseases and public health microbiology: cottage industry to postgenomics. Trends Mol Med 2002; Jun 8 (06) 280-7.
  • 44 Broder S, Hoffman SL, Hotez PJ. Cures for the Third World’s problems: the application of genomics to the diseases plaguing the developing world may have huge medical and economic benefits for those countries and might even prevent armed conflict. EMBO Rep 2002; Sep 3 (09) 806-12.
  • 45 Goldie SJ, Levin AR. MSJAMA. Genomics in medicine and public health: role of costeffectiveness analysis. JAMA 2001; Oct 3 286 (13) 1637-8.
  • 46 Visionary experimental designs. Nature 2001; Nov 8 414 6860 133 [No authors listed].
  • 47 Millikan R. The changing face of epidemiology in the genomics era. Epidemiology 2002; Jul 13 (04) 472-80.
  • 48 Maojo V, Martin-Sanchez F, Billhardt H, Iakovidis I, Kulikowski C. Establishing an agenda for biomedical informatics. Methods Inf Med 2003; 42 (02) 121-5.