Genomic Profiling

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Using genomic tumour testing in combination with genomically-matched targeted therapies has improved treatment outcomes for patients with cancer [1].

Genomic tumour profiling is becoming more widely used, as its accuracy and affordability are improving [1]. In addition, an important part aspect of tumour-agnostic treatment is the use of genomic profiling [2].

The initial application of biomarker assessment and genomic profiling has been to guide therapy selection [3]. However, with improvements and greater availability of sequencing technologies (discussed in greater detail in Module 2 ) and with more thorough evaluation of genotype‒phenotype relationships, genomic profiling is increasingly used in early disease detection and for predicting outcomes.

Genomic profiling has become integrated into the standard of care for many advanced solid tumours. For instance, molecular tumour boards are increasingly used. These boards are a multidisciplinary clinical management team that consider complex genomic information and multiple test platforms to guide patient care [3-5]. However, molecular tumour boards may not exist in some institutions. Importantly, NTRK gene fusion testing received an ESMO Scale of Clinical Actionability for molecular Targets (ESCAT) Tier 1 rating [6]. This highest level of rating means that if an NTRK gene fusion is found, evidence from clinical trials associated with that particular alteration-drug match supports that the target an (NTRK gene fusion) is suitable for routine use and recommend a specific drug treatment. 


  1. van der Velden DL, van Herpen CML, van Laarhoven HWM et al. Molecular Tumor Boards: current practice and future needs. Ann Oncol 2017; 28: 3070-3075.
  2. Offin M, Liu D, Drilon A. Tumor-Agnostic Drug Development. J Clin Oncol 2018; 286-295.
  3. Borad MJ, LoRusso PM. Twenty-First Century Precision Medicine in Oncology: Genomic Profiling in Patients With Cancer. Mayo Clin Proc 2017; 92: 1583-1591.
  4. Remon J, Dienstmann R. Precision oncology: separating the wheat from the chaff. ESMO Open 2018; 3: e000446.
  5. Rolfo C, Manca P, Salgado R et al. Multidisciplinary molecular tumour board: a tool to improve clinical practice and selection accrual for clinical trials in patients with cancer. ESMO Open 2018; 3: e000398.
  6. Mateo J, Chakravarty D, Dienstmann R et al. A framework to rank genomic alterations as targets for cancer precision medicine: the ESMO Scale for Clinical Actionability of molecular Targets (ESCAT). Ann Oncol 2018; 29: 1895-1902.

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Last update: 24 June 2019