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Actionable biomarkers: the key to resolving disorders of gastrointestinal function
  1. Michael Camilleri,
  2. Victor Chedid
  1. Division of Gastroenterology, Mayo Clinic, Rochester, Minnesota, USA
  1. Correspondence to Professor Michael Camilleri, Mayo Clinic, Rochester, MN 55905, USA; camilleri.michael{at}

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A valid biomarker is defined as ‘a characteristic that is measured and evaluated as an indicator of normal biological processes, pathogenic processes or pharmacological responses to a therapeutic intervention’.1 The advent and validation of biomarkers based on identification of organic mechanisms, pathogenesis or pathophysiology have the potential to introduce individualisation in management of disorders of lower gastrointestinal function. An actionable biomarker is a biomarker that is associated with a directed treatment to prevent or reverse symptoms or disease, and this has resulted in a paradigm shift in oncological treatment from a tumour type-focussed approach to a molecularly-directed agnostic one, exploring the role of biological agents targeted to the driver genomic alteration irrespective of the cancer histology.2 Such actionable biomarkers have been introduced in functional lower gastrointestinal disorders.3 Importantly, this approach also provides opportunity to provide patients with personalised approach to treatment.

This article highlights the diverse methods to identify the organic pathogenesis (figure 1) and to choose treatments based on approved treatments, off-label treatment with approved medications or, in the future, experimental medications. The a priori criteria for inclusion was based on the evidence of pathobiological relevance, extensive data on normal values, performance characteristics of the biomarker, availability of treatment directed to the biomarker, as well as evidence of efficacy of treatment directed at the specific biomarker. For example, the normal value data in adults for cited measurements are based on the following numbers: gastric emptying (319 (214 females, 105 males));4 colonic transit (220 (145 females, 75 males); 5 colonic compliance (n = 40);6 anorectal manometry with normal balloon expulsion (143 (96 females and 47 males));7 gastric accommodation (354 (230 females, 120 males));8 48 hours faecal bile acid excretion (96 (60 females and 36 males))9 and serum 7αC4 for bile acid diarrhoea (184 …

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  • Contributors MC conceived the idea and drafted the manuscript and revised and finalised the manuscript. He is the senior author. VC is the co-author. He was involved in revision and finalising of the manuscript.

  • Funding MC research work is supported by grants R01-DK115950 and R01- DK122280 from National Institutes of Health. MC is the guarantor of the manuscript, taking responsibility for its accuracy, having access to all of the data and having the decision to publish the paper.

  • Competing interests MC has received research support for proof of concept single centre or multicentre studies from Allergan, Bird Rock Bio, Novartis and Takeda.

  • Patient consent for publication Not required.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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