Plenary Lecture 2:


Patrick G Johnston, MD

Dean, School of Medicine, Dentistry and Biomedical Sciences and Professor of Oncology,
Centre for Cancer Research and Cell Biology, Queen’s University Belfast, UK


Genomic technologies have enabled the evaluation of genomic alterations on a genome-wide scale and significantly altered genomic marker research in solid tumours. The traditional model of identifying a particular genomic alteration and evaluating the association between this and a clinical outcome measure is no longer feasible within clinical studies. This has created challenges in considering the use of genomic markers in cancer care such as clinical study design, reproducibility and interpretation and reporting of results. My talk will explore these challenges, focusing on highthroughput genomic technology and using colorectal cancer as a primary example. I will highlight some common failings in study design that have impacted on the clinical usefulness of putative genomic markers.

A shift in clinical trial design allows genomic markers to be incorporated into prospective studies as patient stratifi cation tools. In so doing, genomic markers can be evaluated in a rigorous fashion, facilitating the implementation of such markers into routine clinical practice and enabling the rational and tailored use of cancer therapies for individual patients.

Learning points:
  • Despite extensive research, relatively few genomic markers have been implemented into routine clinical use to date, often due to failings in clinical study design.
  • The traditional ‘single disease, single genomic marker’ approach fails to take account of tumour heterogeneity and consequently single genomic markers are often found to be inadequate biomarkers in clinical studies.
  • The introduction of new high-throughput genomic technologies has enabled the simultaneous measurement of multiple genomic alterations, revolutionising the fi eld of genomic marker research in oncology.
  • These technologies in turn have presented new challenges to considering the routine clinical use of putative genomic markers such as reproducibility and interpretation and reporting of results.
  • Novel genomic markers should undergo extensive validation prior to considering their implementation into routine clinical practice.
  • A shift in clinical trial design, incorporating genomic markers into prospective studies as a patient stratifi cation tool, and evaluating such markers in a rigorous, focused and timely fashion would facilitate their implementation into clinical use.
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