Human Genome Project, Personalised Medicine and Future Health Care

Niccolò Tempini, University of Exeter, Exeter, UK
Sabina Leonelli, University of Exeter, Exeter, UK

Published online: June 2015

DOI: 10.1002/9780470015902.a0005177.pub2

Abstract

At the turn of the millennium, the Human Genome Project and the upcoming publication of the human genome sequence promised to open an entirely new approach to healthcare, based on the genotype of the individual. This approach was dubbed personalised medicine (PM). However, the analysis of sequencing results revealed that the complexity of the biological world had been underestimated. The major project of revolutionising medicine through genomics requires a more sophisticated and multilevel understanding of living systems, which in turn demands new data, models and modes of intervention on humans and non‐human organisms. Thus, the most advanced applications of PM involve a complex interweaving of biological and medical knowledge, as well as increasing attention to the technical systems through which data about any specific individual could be processed. Further, the development of PM needs to include consideration of several key ethical issues, ranging from privacy and data control to the risk that dependence on sophisticated technologies will widen the gap between haves and have‐nots both globally and within any one country.

Key Concepts

  • Personalised medicine describes the direction medical solutions are expected to evolve, towards personalisation and individual tailoring of therapies and treatment regimes that will cut and divide through patient populations. The motor of this promised innovation will be genomic profiling techniques, of nuclear DNA but also ones of latter development such as proteomics, metabolomics, transcriptomics and so on.
  • Biomedicine is an interdisciplinary space involving biological and medical knowledge/expertise as well as IT, where scientific knowledge about biological phenomena is mobilised in order to devise solutions to medical problems.
  • Data‐intensive science describes the mode of scientific research that is emerging as paramount in an age characterised by the increasing reliance and dependence of researchers on the development of complex, distributed infrastructures for data sharing and analysis.
  • Postgenomics indicates efforts at creating and understanding models of life and disease that put genomic science and other biosciences at all levels of complexity in relation to each other.
  • Translational medicine indicates the fast‐developing domain of efforts and debate aimed at improving the translatability of discoveries and techniques from the lab into solutions, drugs and therapies that can be effectively implemented at the point of healthcare delivery.

Keywords: human genome project; healthcare; personalised medicine; precision medicine; pharmacogenomics; data‐intensive science; translational medicine

References

Ashley EA, Butte AJ, Wheeler MT, et al. (2010) Clinical assessment incorporating a personal genome. The Lancet 375 (9725): 1525–1535. DOI: 10.1016/S0140-6736(10)60452-7.

Bastow R and Leonelli S (2010) Sustainable digital infrastructure. EMBO Reports 11 (10): 730–735.

Bin Han Ong M (2015) ASCO's multi‐million big data project aspires to be the “Bedrock” of oncology. The Cancer Letter 41 (7): 6–12.

Collins FS (2010) The Language of Life: DNA and the Revolution in Personalized Medicine, 1st edn, pp. 371. HarperCollins e‐books http://www.amazon.co.uk/The‐Language‐Life‐Revolution‐Personalized‐ebook/dp/B003100UQU.

Cookson, C. (2015) DNA: The Next Frontier in Forensics. Financial Times. http://www.ft.com/cms/s/2/012b2b9c‐a742‐11e4‐8a71‐00144feab7de.html.

Dupré J (2010a) Emerging sciences and new conceptions of disease; or, beyond the monogenomic differentiated cell lineage. European Journal for Philosophy of Science 1 (1): 119–131. DOI: 10.1007/s13194-010-0008-0.

Dupré J (2010b) The polygenomic organism. The Sociological Review 58: 19–31. DOI: 10.1111/j.1467-954X.2010.01909.x.

Eisenstein M (2014) Personalized medicine: special treatment. Nature 513 (7517): S8–S9. DOI: 10.1038/513S8a.

Green RC, Berg JS and Grody WW (2013) ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. Genetics in Medicine 15 (7): 565–574. DOI: 10.1038/gim.2013.73.

Hedgecoe A (2004a) The Politics of Personalised Medicine: Pharmacogenetics in the Clinic, pp. 217. Cambridge: Cambridge University Press http://www.amazon.co.uk/Politics‐Personalised‐Medicine‐Pharmacogenetics‐Cambridge‐ebook/dp/B000SK3VS0/ref=la_B001H6QYK6_1_1?s=books&ie=UTF8&qid=1425041360&sr=1‐1.

Hicks S, Wheeler DA, Plon SE and Kimmel M (2011) Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed. Human Mutation 32 (6): 661–668. DOI: 10.1002/humu.21490.

Hood L and Friend SH (2011) Predictive, personalized, preventive, participatory (P4) cancer medicine, Nature Reviews Clinical Oncology 8 (3): 184–187.

Keating P and Cambrosio A (2013) 21st‐century oncology: a tangled web. The Lancet 382 (9909): e45–e46. DOI: 10.1016/S0140-6736(13)62660-4.

Keller EF (2000) The Century of the Gene. Cambridge, MA: Harvard University Press.

Khoury MJ, Evans J and Burke W (2010) A reality check for personalized medicine. Nature 464 (7289): 680–680. DOI: 10.1038/464680a.

Laksman Z and Detsky AS (2011) Personalized medicine: understanding probabilities and managing expectations. Journal of General Internal Medicine 26 (2): 204–206. DOI: 10.1007/s11606-010-1515-6.

Leonelli S and Ankeny RA (2012) Re‐thinking organisms: the epistemic impact of databases on model organism biology. Studies in the History and Philosophy of the Biological and Biomedical Sciences 43 (1): 29–36.

Longo DL (2012) Tumor heterogeneity and personalized medicine. New England Journal of Medicine 366 (10): 956–957. DOI: 10.1056/NEJMe1200656.

Lucivero F and Prainsack B (2015) The lifestylisation of healthcare? “Consumer genomics” and mobile health as technologies for healthy lifestyle. Applied & Translational Genomics. DOI: 10.1016/j.atg.2015.02.001.

Lunshof JE, Church GM and Prainsack B (2014) Raw personal data: providing access. Science 343 (6169): 373–374. DOI: 10.1126/science.1249382.

Lupski JR, Reid JG and Gonzaga‐Jauregui C (2010) Whole‐genome sequencing in a patient with Charcot–Marie–tooth neuropathy. New England Journal of Medicine 362 (13): 1181–1191. DOI: 10.1056/NEJMoa0908094.

Lyon GJ (2012) Personalized medicine: bring clinical standards to human‐genetics research. Nature 482 (7385): 300–301. DOI: 10.1038/482300a.

Makałowski W, Jkalski M and Makałowska I (2014) Bioinformatics. Chichester: John Wiley & Sons, Ltd http://onlinelibrary.wiley.com/doi/10.1002/9780470015902.a0005247.pub2/abstract.

Merelli I, Perez‐Sanchez H, Gesing S and D'Agostino D (2014) Managing, analysing, and integrating big data in medical bioinformatics: open problems and future perspectives. Biomed Research International 134023.. DOI: 10.1155/2014/134023.

Novas C and Rose N (2001) Genetic risk and the birth of the somatic individual. Economy and Society 29 (4): 485–513. DOI: 10.1080/03085140050174750.

O'Malley MA and Dupré J (2005) Fundamental issues in systems biology. BioEssays 27 (12): 1270–1276. DOI: 10.1002/bies.20323.

O'Malley MA and Stotz K (2011) Intervention, integration and translation in obesity research: genetic, developmental and metaorganismal approaches. Philosophy, Ethics, and Humanities in Medicine 6 (2). DOI: 10.1186/1747-5341-6-2.

Ray, T. (2015) ASCO to Unveil First Version of CancerLinQ in 2015 with Help from SAP Data Management Platform. https://www.genomeweb.com/informatics/asco‐unveil‐first‐version‐cancerlinq‐2015‐help‐sap‐data‐management‐platform.

Ribes D and Bowker GC (2009) Between meaning and machine: learning to represent the knowledge of communities. Information and Organization 19 (4): 199–217. DOI: 10.1016/j.infoandorg.2009.04.001.

Samani NJ, Tomaszewski M and Schunkert H (2010) The personal genome—the future of personalised medicine? The Lancet 375 (9725): 1497–1498. DOI: 10.1016/S0140-6736(10)60598-3.

Smith TM and Porter SG (2014) Development and role of the human reference sequence in personal genomics. Chichester: John Wiley & Sons, Ltd http://onlinelibrary.wiley.com/doi/10.1002/9780470015902.a0025334/abstract.

Staes CJ, Xu W and LeFevre SD (2009) A case for using grid architecture for state public health informatics: the Utah perspective. BMC Medical Informatics and Decision Making 9: 32. DOI: 10.1186/1472-6947-9-32.

Stevens H and Richardson SS (2015) Beyond the Genome, pp. 1–8. London: Duke University Press.

Ure J, Hartswood M and Wardlaw J (2009) The development of data infrastructures for eHealth: a socio‐technical perspective. Journal of the Association for Information Systems 10 (5): 415–429 http://search.ebscohost.com/login.aspx?direct=true&db=bth&AN=41128815&site=ehost‐live.

Wang W and Krishnan E (2014) Big data and clinicians: a review on the state of the science. JMIR Medical Informatics 2 (1): e1. DOI: 10.2196/medinform.2913.

Wistuba II, Gelovani JG, Jacoby JJ, Davis SE and Herbst RS (2011) Methodological and practical challenges for personalized cancer therapies. Nature Reviews Clinical Oncology 8 (3): 135–141.

Wolkenhauer O and Green S (2013) The search for organizing principles as a cure against reductionism in systems medicine. FEBS Journal 280 (23): 5938–5948. DOI: 10.1111/febs.12311.

Wyatt S, Harris A, Adams S and Kelly SE (2013) Illness online: self‐reported data and questions of trust in medical and social research. Theory, Culture & Society 30 (4): 131–150. DOI: 10.1177/0263276413485900.

Further Reading

Atkinson P, Glasner P and Lock M (2009) The Handbook of Genetics & Society: Mapping the New Genomic Era, 1 edn, pp. 500. London; New York: Routledge.

Hedgecoe A (2004b) The Politics of Personalised Medicine: Pharmacogenetics in the Clinic, pp. 217. Cambridge University Press.

Prainsack B, Schicktanz S and Werner‐Felmayer G (2014) Genetics as Social Practice, pp. 218. Farnham, UK: Ashgate.

Reardon J (2009) Race to the Finish: Identity and Governance in an Age of Genomics, pp. 250. Princeton: Princeton University Press.

Richardson SS and Stevens H (2015) Postgenomics, pp. 285. London: Duke University Press.

Related Sub-Topics:

Pharmacogenetics and Pharmacogenomics | Bioinformatics and Genetic Disease | Bioethics | Health Care | Inter-Individual Variation and Polymorphism | Techniques and Tools in Clinical Genetics
Contact Editor close
Submit a note to the editor about this article by filling in the form below.

* Required Field

Article Title: Human Genome Project, Personalised Medicine and Future Health Care
 
How to Cite close
Tempini, Niccolò, and Leonelli, Sabina(Jun 2015) Human Genome Project, Personalised Medicine and Future Health Care. In: eLS. John Wiley & Sons Ltd, Chichester. http://www.els.net [doi: 10.1002/9780470015902.a0005177.pub2]