On November 16, 2022 Genome Insight, a precision medicine whole genome platform company, and Kun-hee Lee Child Cancer & Rare Disease Project Team of SNUH (Seoul National University Hospital), funded by the family of ex-Samsung Group Chairman Kun-hee Lee, reported a collaborative study for a whole genome sequencing (WGS)-based approach to pediatric solid cancer diagnosis in the clinical setting (Press release, Genome Insight, NOV 16, 2022, View Source [SID1234624175]).
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The partnership’s shared goal is to accelerate the widespread access and use of a WGS diagnosis platform in the clinical setting. Under their partnership, Genome Insight and Kun-hee Lee Child Cancer & Rare Disease Project Team will co-develop a pediatric solid cancer whole genome-based clinical system. This clinical system will cover from sample collection through multi-omics-based analysis to clinical utilization.
WGS captures a near-complete overview of the genomic characteristics of a tumor in one test. In contrast, targeted sequencing panels, a form of testing currently used in the clinical setting, selectively detects about 0.01%-1% of the genome due to technical limitations. The comprehensive WGS approach enables the discovery of all types of genomic mutations, including single nucleotide variants, copy number alterations, insertions/deletions, and structural variants as well as whole genome-wide pattern-based biomarkers such as mutational signature, homologous recombination deficiency, etc. These characteristics can inform diagnosis and treatment decisions but are often not detected through other medical testing.
Genome Insight will provide bioinformatics-powered digital solutions that read and translate a cancer patient’s genome into medically meaningful insights. Furthermore, Genome Insight’s web-based interactive user-friendly real-time report of genomic insights will replace the conventional paper-based reports. Through the implementation of this whole genome-based clinical system, the study aims to improve the quality and accuracy of pediatric solid cancer diagnosis and treatment selection.
"We are delighted to introduce a whole genome-based pediatric solid cancer diagnosis platform to our partner hospital through this collaboration. Our goal is to speed up the accumulation of whole genome datasets and real-world experience, thereby creating a world-class research cohort that would enhance our partner hospitals’ precision medicine research capabilities and bring better care to their patients through whole genome-based precision diagnosis," said Baek-lok Oh, Chief Medical Officer, Genome Insight.
"We expect that Genome Insight’s platform will have a positive impact on improving pediatric solid cancer diagnosis and treatment rates of pediatric cancer patients across Korea," said Professor Ji Hoon Phi, the principal investigator of this study.