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Genetic and Genomic Markers for Prognostication

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Biomarkers in Inflammatory Bowel Diseases

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Abstract

Genetic and genomic studies have provided key insights into the biology responsible for inflammatory bowel disease (IBD) susceptibility, but the biology of disease outcome remains relatively unexplored. Like most autoimmune and inflammatory diseases, IBD has a highly variable course, with the potential to have a devastating impact on patients’ lives. As a result, being able to reliably predict prognosis in IBD remains a major ambition of clinicians and patients alike.

In most fields of medicine, the goal of delivering personalised medicine has become increasingly important. For this to become a reality, however, it will first be necessary to better understand what determines disease prognosis. A major step towards this goal may lie in the emerging evidence that the biology that drives prognosis in IBD is distinct from the biology that underpins disease susceptibility. Indeed, it is hoped that by better understanding the mechanisms that determine disease progression, it might ultimately be possible to develop clinically useful biomarkers, which could be translated back to the clinic to improve patient care.

In this chapter we will review the efforts that have already been made using genetic and genomic tools to develop prognostic and predictive biomarkers in IBD. We will discuss the important requirements for such biomarkers, both in terms of their development and validation, and the evidence that will be required in order for them to be translated back into clinical practice.

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Author information

Authors and Affiliations

  1. Department of Medicine, University of Cambridge School of Clinical Medicine, Cambridge, UK

    Nurulamin M. Noor

  2. Addenbrooke’s Hospital, Cambridge University Hospitals NHS Trust, Cambridge, UK

    Miles Parkes

  3. Department of Medicine, University of Cambridge, Cambridge, UK

    James C. Lee

  4. Addenbrooke’s Hospitals, Cambridge University Hospitals NHS Foundation Trust, Cambridge, UK

    James C. Lee

Authors
  1. Nurulamin M. Noor
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  2. Miles Parkes
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  3. James C. Lee
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Corresponding authors

Correspondence to Miles Parkes or James C. Lee .

Editor information

Editors and Affiliations

  1. St Vincent’s Hospital, The University of Melbourne, Melbourne, VIC, Australia

    Nik Sheng Ding

  2. Austin Health, The University of Melbourne, Melbourne, VIC, Australia

    Peter De Cruz

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Noor, N.M., Parkes, M., Lee, J.C. (2019). Genetic and Genomic Markers for Prognostication. In: Sheng Ding, N., De Cruz, P. (eds) Biomarkers in Inflammatory Bowel Diseases. Springer, Cham. https://doi.org/10.1007/978-3-030-11446-6_27

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  • DOI: https://doi.org/10.1007/978-3-030-11446-6_27

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-11445-9

  • Online ISBN: 978-3-030-11446-6

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