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Genomics and Public Health

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A Systematic Review of Key Issues in Public Health

Abstract

This chapter addresses the crucial question of how genomics knowledge and technologies can currently be integrated into public health practice. There has been an astonishing rate of technological advance in genomic science over the last decade since the public health genomics movement was first conceived in the 1990s, though the arrival of genomics into health-care practice represents only the beginning of the translational highway. For some, this exponential growth in knowledge promises a future in which health care is focused much more effectively at the level of the individual. In this chapter, we examine the emerging areas where public health and genomics intersect, the criteria for population screening programmes involving genomic knowledge, and the use of genomics for evidence-based approaches to forecast and manage disease prevention and prognosis, as well as health intervention outcomes. We discuss challenges and barriers for implementing evidence-based genomic applications in the public health practice. We provide a three-tiered approach to group public health genomics applications based on their readiness for practice. We conclude that coordinated efforts are essential to guide development in genomic medicine, towards an impact on population health.

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References

  1. Austin MA, Peyser PA, Khoury MJ (2000) The interface of genetics and public health: research and educational challenges. Ann Rev Public Health 21:81–89

    Article  CAS  Google Scholar 

  2. Bernstein A, Pulendran B, Rappuoli R (2011) Systems vaccinomics: the road ahead for vaccinology. OMICS 15(9):529–531

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  3. Boccia S (2014) Why is personalized medicine relevant to public health? Eur J Public Health 24(3):349-50

    Article  PubMed  Google Scholar 

  4. Burke W (2002) Genetic testing. N Engl J Med 347:1867–1875

    Article  CAS  PubMed  Google Scholar 

  5. Burton H (2003) Addressing genetics, delivering health. Public Health Genetics Unit, Cambridge

    Google Scholar 

  6. Burke W, Zimmern R (2007) Moving beyond ACCE: an expanded framework for genetic test evaluation. Paper prepared for the UK Genetic Testing Network.

    Google Scholar 

  7. Burke W, Atkins D, Gwinn M et al (2002) Genetic test evaluation: information needs of clinicians, policy makers, and the public. Am J Epidemiol 256:311–318

    Article  Google Scholar 

  8. Burke W, Burton H, Hall AE et al (2010) Extending the reach of public health genomics: what should be the agenda for public health in an era of genome-based and “personalized” medicine? Genet Med 12(12):785–791

    Article  PubMed  Google Scholar 

  9. Centers for Disease Control and Prevention: website. http://www.cdc.gov/genomics/about/reports/2001.htm. Accessed 31 March 2014

  10. Chowdhury S, Dent T, Pashayan N et al (2013) Incorporating genomics into breast and prostate cancer screening: assessing the implications. Genet Med 15(6):423–432

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  11. Claassen L, Henneman L, van der Weijden T, Marteau TM, Timmermans DR (2012) Being at risk for cardiovascular disease: perceptions and preventive behavior in people with and without a known genetic predisposition. Psychol Health Med 17:511–521

    Article  CAS  PubMed  Google Scholar 

  12. Davey SG, Ebrahim S, Lewis S, Hansell AL, Palmer LJ, Burton PR (2005) Genetic epidemiology and public health: hope, hype, and future prospects. Lancet 366:1484–1498

    Article  Google Scholar 

  13. Donabedian A (1978) The quality of medical care. Science 200:856–864

    Article  CAS  PubMed  Google Scholar 

  14. Donabedian A (2005) Evaluating the quality of medical care. Milbank Q 83:691–729.

    Article  PubMed Central  PubMed  Google Scholar 

  15. Dove ES, Faraj SA, Kolker E, Ozdemir V (2012) Designing a post-genomics knowledge ecosystem to translate pharmacogenomics into public health action. Genome Med 4(11):91

    Article  PubMed Central  PubMed  Google Scholar 

  16. Evaluation of Genomic Applications in Practice and Prevention (EGAPP): Implementation and Evaluation of a Model Approach: website. http://www.egappreviews.org/default.htm. Accessed 31 March 2014

  17. Evans JP, Berg JS, Olshan AF, Magnuson T, Rimer BK (2013) We screen newborns, don't we?: realizing the promise of public health genomics. Genet Med 15:332–334

    Article  PubMed  Google Scholar 

  18. GAPP Finder by CDC’s Office of Public Health Genomics: website. http://64.29.163.162:8080/ GAPPKB/topicStartPage.do. Accessed 31 March 2014

    Google Scholar 

  19. Grosse SD, Khoury MJ (2006) What is the clinical utility of genetic testing? Genet Med 8:448–450

    Article  PubMed  Google Scholar 

  20. Haddow J, Palomaki G (2004) ACCE: a model process for evaluating data on emerging genetic tests. In: Khoury M, Little J, Burke W (Eds) Human genome epidemiology. Oxford University Press, Oxford, p 217–233

    Google Scholar 

  21. Halliday JL, Collins VR, Aitken MA, Richards MP, Olsson CA (2004) Genetics and public health – evolution, or revolution? J Epidemiol Community Health 58:894–899

    Article  PubMed Central  PubMed  Google Scholar 

  22. Holtzman NA and Watson MS (1997) Promoting safe and effective genetic testing in the United States. Final report of the Task Force on Genetic Testing, http://www.genome.gov/10001733. Accessed 31 March 2014

  23. Hotez PJ (2011) New antipoverty drugs, vaccines, and diagnostics: a research agenda for the US President’s Global Health Initiative (GHI). PLoS Negl Trop Dis 5:e1133

    Article  PubMed Central  PubMed  Google Scholar 

  24. Janssens ACJW, Khoury MJ (2006) Predictive value of testing for multiple genetic variants in multifactorial diseases: implications for the discourse on ethical, legal and social issues. Ital J Public Health 4:35–41

    Google Scholar 

  25. Janssens ACJW, van Duijn CW (2008) Genome-based prediction of common diseases: advances and prospects. Hum Mol Genet 17(R2):R166–173

    Article  CAS  PubMed  Google Scholar 

  26. Janssens ACJW, Pardo MC, Steyerberg EW, van Duijn CM (2004) Revisiting the clinical validity of multiplex genetic testing in complex disease. Am J Hum Genet 74:585–588

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  27. Khoury MJ, Coates RJ, Evans JP (2010a) Evidence-based classification of recommendations on use of genomic tests in clinical practice: dealing with insufficient evidence. Genet Med 12:680–683

    Article  PubMed  Google Scholar 

  28. Khoury MJ, Feero WG, Valdez R (2010b) Family history and personal genomics as tools for improving health in an era of evidence-based medicine. Am J Prev Med 39(2):184–188

    Article  PubMed  Google Scholar 

  29. Khoury MJ, Bowen MS, Burke W et al (2011) Current priorities for public health practice in addressing the role of human genomics in improving population health. Am J Prev 40:486–493

    Article  Google Scholar 

  30. Kroese M, Zimmern RL, Sanderson S (2004) Genetic tests and their evaluation: can we answer the key questions? Genet Med 6:475–480

    Article  PubMed  Google Scholar 

  31. O'Meara MM, Disis ML (2011) Therapeutic cancer vaccines and translating vaccinomics science to the global health clinic: emerging applications toward proof of concept. OMICS 15(9):579–588

    Article  PubMed Central  PubMed  Google Scholar 

  32. Personalized Medicine 2020: website. http://www.permed2020.eu/index.php. Accessed 31 March 2014

  33. US Centers for Disease Control and Prevention website: http://www.cdc.gov/genomics/gtesting/tier.htm. Accessed date 31st March 2014

  34. Warnich L, Drögemöller BI, Pepper MS, Dandara C, Wright GE (2011) Pharmacogenomic research in South Africa: lessons learned and future opportunities in the rainbow nation. Curr Pharmacogenomics Person Med 9:191–207

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  35. Yang Q, Khoury MJ, Botto L, Friedman JM, Flanders WD (2003) Improving the prediction of complex diseases by testing for multiple disease susceptibility genes. Am J Hum Genet 72:636–649

    Article  PubMed Central  CAS  PubMed  Google Scholar 

  36. Zimmern RL (2011) Genomics and individuals in public health practice: are we luddites or can we meet the challenge? J Public Health (Oxf) 33(4):477–482

    Article  CAS  Google Scholar 

  37. Zimmern RL, Khoury MJ (2012) The impact of genomics on public health practice: the case for change. Public Health Genomics 15:118–124

    Article  CAS  PubMed  Google Scholar 

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Authors and Affiliations

  1. Institute of Public Health, Section of Hygiene, Università Cattolica del Sacro Cuore, L.go F. Vito 1, 00168, Rome, Italy

    Stefania Boccia

  2. PHG Foundation, 2 Worts’ Causeway, CB1 8RN, Cambridge, UK

    Ron Zimmern

Authors
  1. Stefania Boccia
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  2. Ron Zimmern
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Correspondence to Stefania Boccia .

Editor information

Editors and Affiliations

  1. Università Cattolica del Sacro Cuore, Institute of Hygiene Faculty of Medicine, Rome, Italy

    Stefania Boccia

  2. Public Health and Infectious Diseases, Sapienza University of Rome, Rome, Italy

    Paolo Villari

  3. Institute of Hygiene,Faculty of Medicine Università Cattolica del Sacro Cuore, Rome, Italy

    Walter Ricciardi

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© 2015 Springer International Publishing Switzerland

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Boccia, S., Zimmern, R. (2015). Genomics and Public Health. In: Boccia, S., Villari, P., Ricciardi, W. (eds) A Systematic Review of Key Issues in Public Health. Springer, Cham. https://doi.org/10.1007/978-3-319-13620-2_14

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  • DOI: https://doi.org/10.1007/978-3-319-13620-2_14

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-319-13619-6

  • Online ISBN: 978-3-319-13620-2

  • eBook Packages: MedicineMedicine (R0)

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