title: The path to routine use of genomic biomarkers in the cancer clinic.
abstract: It has been almost 15 years since the first microarray-based studies creating multigene biomarkers to subtype and predict survival of cancer patients. This Perspective looks at why only a handful of genomic biomarkers have reached clinical application and what advances are needed over the next 15 years to grow this number. I discuss challenges in creating biomarkers and reproducing them at the genomic and computational levels, including the problem of spatio-genomic heterogeneity in an individual cancer. I then outline the challenges in translating newly discovered genome-wide or regional events, like trinucleotide mutation signatures, kataegis, and chromothripsis, into biomarkers, as well as the importance of incorporating prior biological knowledge. Lastly, I outline the practical problems of pharmaco-economics and adoption: Are new biomarkers viewed as economically rational by potential funders? And if they are, how can their results be communicated effectively to patients and their clinicians? Genomic-based diagnostics have immense potential for transforming the management of cancer. The next 15 years will see a surge of research into the topics here that, when combined with a stream of new targeted therapies being developed, will personalize the cancer clinic.
authors.affiliation: Informatics and Biocomputing Program, Ontario Institute for Cancer Research, Toronto M5G 0A3, Ontario, Canada; Department of Medical Biophysics, University of Toronto, Toronto M5S 1A8, Ontario, Canada; Department of Pharmacology and Toxicology, University of Toronto, Toronto M5S 1A8, Ontario, Canada.
authors.forename: Paul C
authors.initials: PC
authors.lastname: Boutros
mesh_terms: D014408:Biomarkers, Tumor / Q000032:analysis / Q000191:economics / Q000235:genetics; D005820:Genetic Testing / Q000191:economics / Q000639:trends; D023281:Genomics; D058015:Health Communication; D006801:Humans; D009369:Neoplasms / Q000175:diagnosis* / Q000235:genetics; D015203:Reproducibility of Results
chemical_list: D014408:Biomarkers, Tumor