Human Genome Project, Personalised Medicine and Future Health Care


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


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Tempini, Niccolò, and Leonelli, Sabina(Jun 2015) Human Genome Project, Personalised Medicine and Future Health Care. In: eLS. John Wiley & Sons Ltd, Chichester. [doi: 10.1002/9780470015902.a0005177.pub2]