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Genome Insight Entering US Market With Clinical WGS Analysis, Interpretation Services

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BALTIMORE – With $23 million from a recent Series B funding under its belt, South Korean whole-genome sequencing analysis and interpretation company Genome Insight is ready to move into the US market.

The Korea Advanced Institute of Science and Technology (KAIST) spinout, now with about 40 employees in its home country, recently incorporated in the US and moved its headquarters across the ocean to San Diego.

While the company’s near-term plan in the US includes forging whole-genome sequencing research partnerships, it aims to eventually become a whole-genome sequencing disease curation service and bioinformatics IT system provider for hospitals.

Founded in 2020, Genome Insight was created to deliver scalable and rapid whole-genome sequencing data curation for cancer and rare diseases, said Cofounder Young Seok Ju, a physician-scientist and professor at KAIST. 

According to Ju, the core technology for Genome Insight is a cancer whole-genome sequencing data analysis and interpretation platform, developed by the company’s team of 10-plus physician-bioinformaticians, that integrates open-sourced bioinformatics programs in a very efficient way.

To build the pipeline, Ju said the company has been collaborating with top medical institutions in South Korea — such as Seoul National University Hospitals, Ajou University Hospital, Asan Medical Center, and Samsung Medical Center — and has been contracted to sequence and analyze about 10,000 tumor samples so far in a research setting, including breast, lung, liver, and hematologic cancers.

By examining such a large number of cancer whole genomes and their associated clinical history, the company aims to generate biological insights to build reference data and enhance its AI algorithms to power automated curation of whole-genome sequencing data for cancer, Ju said.

A typical workflow for the company’s cancer analysis pipeline starts with quality control of the sequencing data, which are then mapped to the reference genome. After that, different types of genomic variants are called, such as single nucleotide variants (SNVs), indels, genomic rearrangements, retrotransposons, and copy number variants, and passed on to the physician-bioinformaticians for disease interpretation and curation.

In addition to analyzing cancer genomes, the company also integrates tumor transcriptome sequencing data and whole-genome sequencing data for healthy tissues for almost all cancer patients, he added.

In terms of turnaround time, Ju said the company can typically complete the workflow from sample to report in approximately two weeks, but it is working to condense this timeline to one week.

The company’s sequencing facility in South Korea currently houses two Illumina NovaSeq sequencers, one MiSeq, and one Pacific Biosciences sequencing platform. While most of the whole-genome sequences are generated using the NovaSeq, the company said its analysis pipeline can handle any type of short-read sequencing data.

The firm has not yet published pricing information for its service, but a company official said that as part of a research collaboration agreement, it has analyzed tumor samples for under $2,000.

To better inform clinicians on the results, in addition to traditional reports, Genome Insight is also developing an online genome browser with a graphical interface, allowing clinicians to visualize a patient’s cancer genomic data, according to Ju.

While Genome Insight currently devotes most of its efforts to cancer whole-genome curation, the company has also applied its technology to rare diseases, said Jeong Seok Lee, another cofounder who is also a physician-scientist and faculty member at KAIST.

For example, the company recently became the exclusive whole-genome data interpretation partner for a nationwide rare disease program initiated by the South Korean government that aims to collect and analyze around 20,000 whole-genome sequences from rare disease cases every year across the country.

Besides research, Genome Insight is also providing whole-genome sequencing and analysis services to pharmaceutical companies for clinical trials in South Korea, Lee said. For instance, the company is currently participating in a Phase II clinical trial run at Samsung Medical Center and funded by two international pharmaceutical companies, he said.

With the funds raised in its recent Series B financing, Genome Insight is hoping to conquer the US market by replicating the path it has taken in South Korea.

Near term, it hopes to finalize and validate its data curation pipeline with more data before launching it more broadly.

In addition, the company is working to further automate its platform to achieve more rapid and cost-effective whole-genome disease curation and avoid most manual curation steps. Ideally, the company envisions a physician-bioinformatician would only have to sign off the report as a final QC step.

Powered by the large number of samples analyzed in South Korea, the company is already using AI algorithms to help filter out false positive results and avoid false negative results when it comes to genomic rearrangements in cancer samples, Ju explained. He also said the company is planning to extend the algorithm for other cancer-linked mutations, such as SNVs and retrotransposition.

Furthermore, given the need for a powerful computing infrastructure to store and analyze whole-genome sequencing data, the company plans to build a cloud-based computing system for its bioinformatics pipeline that can be adapted by customers.

Lastly, Genome Insight said it plans to establish a CLIA-certified lab in the US and to start offering services in the US by the end of this year or early next. However, it will remain first and foremost a data analytic and interpretation company and is willing to partner with a high-throughput sequencing provider when the sequencing demand exceeds its own capacity.

Mirroring its structure in South Korea, the company’s US office, which opened in March and currently has four employees, plans to expand to 40 employees within the next few years.

Still, given that the company’s core technology was built in South Korea, it will still need to figure out the logistics for data and technology transfer across the ocean.

Also, since the company’s pipeline was built using cancer genomic data from a South Korean population, Ju said that moving forward, the firm is planning to include samples from Western populations.

As for competition, Ju said that although there are many high-capacity sequencing service providers, he sees demand for commercial whole-genome sequencing data interpretation and curation in the US. The company also said it does not plan to compete with big hospitals or biomedical institutions with their own whole-genome sequencing facilities and analytics teams.

In terms of strategy, Genome Insight said it plans to forge research and data analysis collaborations with biomedical institutions in the US to generate momentum for whole-genome sequencing, as it did in South Korea. “We needed to show the utility of whole-genome sequencing first, and after that, we can sell our products,” Ju said, adding that while the company has not inked any formal partnerships in the US, it is in discussions with hospitals in the San Diego region to provide cancer whole-genome analysis.

Eventually, Genome Insight plans to target US hospitals without in-house whole-genome sequencing and analysis capabilities as a data curation and interpretation service provider, as well as a supplier of the necessary IT system. 

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