Genome Insight and Kun-hee Lee Child Cancer & Rare Disease Project Team of SNUH (Seoul National University Hospital) Made an Agreement About a Pediatric Cancer Whole Genome Collaborative Study

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.

About Genome Insight

Genome Insight is a precision medicine whole genome platform company with the goal to accelerate the use of whole genome sequencing (WGS) for accurate diagnosis and personalized treatment for cancer and rare diseases. Genome Insight’s proprietary platform is an automated WGS pipeline coupled with a bioinformatics-powered digital solution that rapidly generates meaningful medical insights making it possible to use WGS in real-life clinical settings. Furthermore, this platform is applied in the research setting to advance novel therapeutic strategies in cancer and rare diseases. The company’s headquarters is in San Diego (US) with R&D offices in Seoul and Daejeon (Korea). To learn more, please visit www.genomeinsight.net.

About Kun-hee Lee Child Cancer & Rare Disease Project Team of SNUH

Kun-hee Lee Child Cancer & Rare Disease Project Team of SNUH (Seoul National University Hospital) was launched to improve diagnosis and treatment of children with cancer and rare disease on April, 2021. The project is generously supported by a 300 billion Korean won ($267 million)-fund donated by the family of Kun-hee Lee, the ex-Samsung Group Chairman. SNUH will utilize the fund to support children with cancer or rare disease through medical research and building infrastructure that aids in the diagnosis and treatment of pediatric cancer and rare diseases over the next 10 years.

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