Up until now, genomics-based cancer detection tests have relied on gene panels. A whole genome sequencing (WGS) test has not been a viable option for multiple reasons, including the expense and the large amount (and complexity) of the data generated. However, given the falling cost of next generation sequencing (NGS), WGS may move into other areas where it has previously not been feasible. Young Seok Ju, MD, PhD, co-founder and chief genomics officer of Genome Insight hopes that cancer is one of those areas.

Young Seok Ju, MD, PhD, co-founder and chief genomics officer of Genome Insight

Ju has been working in NGS for the past 15 years. His group’s focus is primarily bioinformatics, with an interest in cancer genomics. Several years ago, while working in his lab at the Korea Advanced Institute of Science and Technology (KAIST), he decided to try to “use the technology for the patient.” Knowing that this endeavor was outside of academia, he formed Genome Insight three and a half years ago in South Korea. The company, which has been operating in R&D mode until now, moved its headquarters to San Diego about a year ago. Today, the company is launching its clinical service to patients as CancerVision. This is, they say, “their coming out party.”

They are the first company, they noted, to bring WGS to routine care.

CancerVision combines the bioinformatics and computational sequencing developed in the Ju lab, of individual patient cancer samples, to determine whole genome mutational profiles. To do this, a physician sends the patient’s samples (a tumor slide and a blood draw) to Genome Insight. The data are analyzed and curated for physicians in what the company calls an easy-to-use format that provides actionable insights.

Jehee Suh, CEO Genome Insight

Why might WGS be preferable to gene panels? The company’s CEO, Jehee Suh, tells GEN, that there are several advantages: WGS allows for a more discovery-based approach and does not rely on a previous hypothesis. Mutations beyond single nucleotide variants can be identified such as complex mutations and structural variants. WGS can decipher between somatic and hereditary mutations. Because of the large number of mutations identified, and genomic landscape markers, the WGS test can more easily identify mutation signatures or patterns. Current panels are based on common cancers, making rare cancers harder to identify. Late-stage cancer genes are neglected in the current panels. Lastly, a physician doesn’t need to choose a panel, making it easier for them to set up the testing.

Genome Insight plans to meet a two-week turnaround time for CancerVision, and the goal for the cost is on par with current tests (no higher than $2000/test per patient.) Following CancerVision, Genome Insight intends to expand testing to genomic-based therapeutic areas beyond cancer, including rare disease.

The U.S. launch comes on the heels of data presented at the American Association of Cancer Research 2023 annual meeting in which CancerVision demonstrated an analysis of specific genetic mutations in breast cancers.

The company currently uses Illumina sequencing, but recently announced a collaboration with Ultima Genomics. Genome Insight does not have a UG-100 at its headquarters in San Diego, but they expect the sequencing platform to arrive in the second quarter of this year. At the moment, the two companies are collaborating on a cancer pipeline while Ultima runs Genome Insight’s samples in-house.

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