Related Experiment Video
Updated: Jan 22, 2026

Ultra-long Read Sequencing for Whole Genomic DNA Analysis
Published on: March 15, 2019
Prospective analysis of 895 patients on a UK Genomics Review Board
David Allan Moore1,2, Marina Kushnir3, Gabriel Mak4
1Department of Pathology, University College London Cancer Institute, London, UK.
Background:
The increasing frequency and complexity of cancer genomic profiling represents a challenge for the oncology community. Results from next-generation sequencing-based clinical tests require expert review to determine their clinical relevance and to ensure patients are stratified appropriately to established therapies or clinical trials.
Methods:
The Sarah Cannon Research Institute UK/UCL Genomics Review Board (GRB) was established in 2014 and represents a multidisciplinary team with expertise in molecular oncology, clinical trials, clinical cancer genetics and molecular pathology. Prospective data from this board were collated.
Results:
To date, 895 patients have been reviewed by the GRB, of whom 180 (20%) were referred for clinical trial screening and 62 (7%) received trial therapy. For a further 106, a clinical trial recommendation was given.
Conclusions:
Numerous challenges are faced in implementing a GRB, including the identification of potential germline variants, the interpretation of variants of uncertain significance and consideration of the technical limitations of pathology material when interpreting results. These challenges are likely to be encountered with increasing frequency in routine practice. This GRB experience provides a model for the multidisciplinary review of molecular profiling data and for the linking of molecular analysis to clinical trial networks.
Related Concept Videos
Review and Preview
Percentiles are a type of fractile that partition data into...
Review and Preview
Genomics
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
Genome Size and the Evolution of New Genes
Comparing Mitochondrial, Chloroplast, and Prokaryotic Genomes

