Populations, Patients, Germs and Genes: Ethics Of Genomics and Informatics in Communicable Disease Control

  • Gwendolyn L. Gilbert
  • Michael Selgelid


This chapter will explore the ways in which genomics (and the informatics tools needed to analyze and interpret them) could, potentially, transform our understanding of infectious disease epidemiology, improve disease management and prevention and save lives. The integration of microbiological, clinical and environmental data into personalized clinical decision support and risk assessment tools will improve both the care of patients with infectious diseases and public health protection. Integrated electronic health information systems will be faster, safer and more cost-effective than the current inefficient miscellany of individual medical records and disease surveillance systems. Technical, commercial and economic barriers to system implementation are unlikely to be insurmountable, but the largely uncharted ethical hazards are potentially more challenging. Prospective evaluation of clinical and public health impact and cost-effectiveness of new diagnostic and surveillance methods and information systems, designed to protect privacy and security of health data without placing unnecessary restrictions on access to essential public health data, will be needed. The interests, priorities and concerns of all stakeholders, including patients and potential patients, health professionals and administrators, public health officials and politicians, must be openly debated and addressed. Otherwise, unnecessary delays or a failure to implement better systems will allow unnecessary suffering and preventable mortality to continue.


Acquire Immune Deficiency Syndrome Communicable Disease Methicillin Resistant Staphylococcus Aureus Clinical Decision Support Disease Surveillance 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


  1. Ballard SA, Pertile KK, Lim M, Johnson PD et al (2005) Molecular characterization of vanB elements in naturally occurring gut anaerobes. Antimicrob Agents Chemother 49(5):1688–1694CrossRefPubMedGoogle Scholar
  2. Battin MP, Francis LP, Jacobson JA, Smith CB (2009) The multiple perspectives of the patient as victim and vector view. In: The patient ad victim and vector: Oxford University Press, Oxford, pp 93–109CrossRefGoogle Scholar
  3. Buhlmann M, Bogli-Stuber K, Droz S, Muhlemann K et al (2008) Rapid screening for carriage of methicillin-resistant Staphylococcus aureus by PCR and associated costs. J Clin Microbiol 46(7):2151–2154CrossRefPubMedGoogle Scholar
  4. Caulfield T, McGuire AL, Cho M, Buchanan JA et al (2008) Research ethics recommendations for whole-genome research: consensus statement. PLoS Biol 6(3):e73CrossRefPubMedGoogle Scholar
  5. Chapman S Jr, Iredell JR, Chapman S, Jr, Iredell JR (2008) Gram-negative sepsis in the intensive care unit: avoiding therapeutic failure. Curr Opin Infect Dis 21(6):604–609CrossRefPubMedGoogle Scholar
  6. Chaudhry B, Wang J, Wu S, Maglione M et al (2006) Systematic review: impact of health information technology on quality, efficiency, and costs of medical care. Ann Intern Med 144(10):742–752PubMedGoogle Scholar
  7. Cooke GS, Hill AV (2001) Genetics of susceptibility to human infectious disease. Nat Rev Genet 2(12):967–977CrossRefPubMedGoogle Scholar
  8. Daily JP, Sabeti P, Daily JP, Sabeti P (2008) A malaria fingerprint in the human genome? [comment]. N Engl J Med 358(17):1855–1856CrossRefPubMedGoogle Scholar
  9. Dyson E (2008) Reflections on privacy 2.0. Sci Am 299(3):26–31Google Scholar
  10. Eng TR, Eng TR (2004) Population health technologies: emerging innovations for the health of the public. Am J Prev Med 26(3):237–242CrossRefPubMedGoogle Scholar
  11. Fairchild AL, Bayer R (2004) Public health. Ethics and the conduct of public health surveillance. Science 303(5658):631–632CrossRefPubMedGoogle Scholar
  12. Fairchild AL, Bayer R, Colgrove J (2008) Privacy, democracy and the politics of disease surveillance. Public Health Ethics 1:30–38CrossRefGoogle Scholar
  13. Fairweather NB, Rogerson S (2001) A moral approach to electronic patient records. Med Inform Internet Med 26(3):219–234CrossRefPubMedGoogle Scholar
  14. Francis LP, Battin MP, Jacobson JA, Smith CB et al (2005) How infectious diseases got left out-and what this omission might have meant for bioethics. Bioethics 19(4):307–322CrossRefPubMedGoogle Scholar
  15. Friedman DJ (2006) Assessing the potential of national strategies for electronic health records for population health monitoring and research. Vital Health Stat 2 143:1–83PubMedGoogle Scholar
  16. Gallego B, Sintchenko V, Wang Q, Hiley L et al (2009) Biosurveillance of emerging biothreats using scalable genotype clustering. J Biomed Inform 2(1):66–73CrossRefGoogle Scholar
  17. Gotterbarn D, Rogerson S (2006) Software design ethics for biomedicine. In: Nagl S (ed) Cancer bioinformatics. Wiley, London, UK, pp 213–231Google Scholar
  18. Groopman J, Jartzband P (2009) Obama’s $80 billion exaggeration. Wall St J March 11Google Scholar
  19. Gupta R, Gabrielsen B, Ferguson SM, Gupta R et al (2005) Nature’s medicines: traditional knowledge and intellectual property management. Case studies from the National Institutes of Health (NIH), USA. Curr Drug Discov Technol 2(4):203–219CrossRefPubMedGoogle Scholar
  20. Hillestad R, Bigelow J, Bower A, Girosi F et al (2005) Can electronic medical record systems transform health care? Potential health benefits, savings, and costs. Health Aff (Millwood) 24(5):1103–1117CrossRefGoogle Scholar
  21. Humphreys H (2008) Can we do better in controlling and preventing methicillin-resistant Staphylococcus aureus (MRSA) in the intensive care unit (ICU)? Eur J Clin Microbiol Infect Dis 27(6):409–413CrossRefPubMedGoogle Scholar
  22. Iredell J, Thomas L, Espedido B, Iredell J et al (2006) Beta-lactam resistance in the gram negatives: increasing complexity of conditional, composite and multiply resistant phenotypes. Pathology 38(6):498–506CrossRefPubMedGoogle Scholar
  23. Jeyaratnam D, Whitty CJ, Phillips K, Liu D et al (2008) Impact of rapid screening tests on acquisition of meticillin resistant Staphylococcus aureus: cluster randomised crossover trial.[see comment]. Br Med J 336(7650):927–930CrossRefGoogle Scholar
  24. Kalra D, Ingram D (2006) Ethical issues of electronic patient data and informatics in clinical trial settings. In: Nagl S (ed) Cancer bioinformatics. Wiley, London, UK, p 233–73CrossRefGoogle Scholar
  25. Khatib R, Saeed S, Sharma M, Riederer K et al (2006) Impact of initial antibiotic choice and delayed appropriate treatment on the outcome of Staphylococcus aureus bacteremia. Eur J Clin Microbiol Infect Dis 25(3):181–185CrossRefPubMedGoogle Scholar
  26. Klevens RM, Edwards JR, Richards CL, Jr, Horan TC, et al (2007) Estimating health care-associated infections and deaths in U.S. hospitals, 2002. Public Health Rep 122(2):160–166PubMedGoogle Scholar
  27. Masue N, Deguchi T, Yokoi S, Yamada T, Ohkusu K et al (2007) System for simultaneous detection of 16 pathogens related to urethritis to diagnose mixed infection. Int J Urol 14(1):39–42CrossRefPubMedGoogle Scholar
  28. McGuire AL, Colgrove J, Whitney SN, Diaz CM et al (2008) Ethical, legal, and social considerations in conducting the Human Microbiome Project. Genome Res 18(12):1861–1864CrossRefPubMedGoogle Scholar
  29. McKechnie ML, Hillman R, Couldwell D, Kong F et al (2009) Simultaneous identification of 14 genital micro-organisms in urine using a multiplex PCR-based reverse line blot (mPCR-RLB) assay. J Clin Microbiol 47(6):1871–1877Google Scholar
  30. McKinney PA, Jones S, Parslow R, Davey N et al (2005) A feasibility study of signed consent for the collection of patient identifiable information for a national paediatric clinical audit database. Br Med J 330(7496):877–879CrossRefGoogle Scholar
  31. Mead PS, Slutsker L, Dietz V, McCaig LF et al (1999) Food-related illness and death in the United States. Emerg Infect Dis 5:607–625CrossRefPubMedGoogle Scholar
  32. Miller S, Selgelid MJ, Miller S, Selgelid MJ (2007) Ethical and philosophical consideration of the dual-use dilemma in the biological sciences. Sci Eng Ethics 13(4):523–580CrossRefPubMedGoogle Scholar
  33. Modiano D, Petrarca V, Sirima BS, Nebie I et al (1996) Different response to Plasmodium falciparum malaria in west African sympatric ethnic groups. Proc Natl Acad Sci U S A 93(23):13206–13211CrossRefPubMedGoogle Scholar
  34. Rawls J (1971) A theory of justice. The Belknap Press of Harvard University Press, Cambridge, MAGoogle Scholar
  35. Reid L (2005) Diminishing returns? Risk and the duty to care in the SARS epidemic. Bioethics 19(4):348–361CrossRefPubMedGoogle Scholar
  36. Rothstein MA (2008) Keeping your genes private. Sci Am 299(3):40–45Google Scholar
  37. Sassetti CM, Rubin EJ (2007) The open book of infectious diseases. Nat Med 13:279–280CrossRefPubMedGoogle Scholar
  38. Selgelid MJ (2007) Ethics and drug resistance. Bioethics 21(4):218–229CrossRefPubMedGoogle Scholar
  39. Selgelid MJ, Selgelid MJ (2005) Ethics and infectious disease. Bioethics 19(3):272–289CrossRefPubMedGoogle Scholar
  40. Sintchenko V, Iredell JR, Gilbert GL, Coiera E (2005) Handheld computer-based decision support reduces patient length of stay and antibiotic prescribing in critical care. J Am Med Inform Assoc 12(4):398–402CrossRefPubMedGoogle Scholar
  41. Sintchenko V, Iredell JR, Gilbert GL, Sintchenko V, Iredell JR, Gilbert GL (2007) Pathogen profiling for disease management and surveillance. Nat Rev Microbiol 5(6):464–470CrossRefPubMedGoogle Scholar
  42. Sintchenko V, Coiera E, Gilbert GL, Sintchenko V, Coiera E, Gilbert GL (2008) Decision support systems for antibiotic prescribing. Curr Opin Infect Dis 21(6):573–579CrossRefPubMedGoogle Scholar
  43. Smith CB, Battin MP, Jacobson JA, Francis LP et al (2004) Are there characteristics of infectious diseases that raise special ethical issues? Develop World Bioeth 4(1):1–16CrossRefGoogle Scholar
  44. Stelfox HT, Bates DW, Redelmeier DA (2003) Safety of patients isolated for infection control. J Am Med Assoc 290(14):1899–1905CrossRefGoogle Scholar
  45. Stone PW, Braccia D, Larson E (2005) Systematic review of economic analyses of health care-associated infections. Am J Infect Control 33(9):501–509CrossRefPubMedGoogle Scholar
  46. The Malaria Genomic Epidemiology Network (2008) A global network for investigating the genomic epidemiology of malaria. Nature 456:732–737CrossRefGoogle Scholar
  47. Thomas L, van Hal S, O’Sullivan M, Kyme P et al (2008) Failure of the BD GeneOhm StaphS/R assay for identification of Australian methicillin-resistant Staphylococcus aureus strains: duplex assays as the “gold standard” in settings of unknown SCCmec epidemiology. J Clin Microbiol 46(12):4116–4117CrossRefPubMedGoogle Scholar
  48. Thompson AK, Faith K, Gibson JL, Upshur RE et al (2006) Pandemic influenza preparedness: an ethical framework to guide decision-making. BMC Med Ethics 7:E12CrossRefPubMedGoogle Scholar
  49. Thursky KA, Mahemoff M, Thursky KA, Mahemoff M (2007) User-centered design techniques for a computerised antibiotic decision support system in an intensive care unit. Int J Med Inform 76(10):760–768CrossRefPubMedGoogle Scholar
  50. Wang Y, Kong F, Yang Y, Gilbert GL (2008) A multiplex PCR-based reverse line blot hybridization (mPCR/RLB) assay for detection of bacterial respiratory pathogens in children with pneumonia. Pediatr Pulmonol 43(2):150–159CrossRefPubMedGoogle Scholar
  51. Wenzel RP, Bearman G, Edmond MB, Wenzel RP et al (2008) Screening for MRSA: a flawed hospital infection control intervention. Infect Control Hosp Epidemiol 29(11):1012–1018CrossRefPubMedGoogle Scholar
  52. WHO. Millenium Development Goals 6: combat HIV/AIDS, malaria and other diseases. Journal [serial on the Internet]. 2000 Date: Available from:
  53. WHO. Global summary of the AIDS epidemic. Journal [serial on the Internet]. 2007 Date: Available from:
  54. WHO. Global tuberculosis control – epidemiology, strategy, financing. Journal [serial on the Internet]. 2009 Date: Available from:

Copyright information

© Springer Science+Business Media, LLC 2010

Authors and Affiliations

  • Gwendolyn L. Gilbert
    • 1
  • Michael Selgelid
    • 1
  1. 1.Centre for Infectious Diseases and Microbiology, Institute of Clinical Pathology and Medical Research, Westmead HospitalSydney West Area Health Service and The University of SydneySydneyAustralia

Personalised recommendations