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Sophia Genetics Using $110M Funding Round to Focus on New Markets, Continued Collaboration


CHICAGO – In the wake of its largest fundraising round to date, a $110 million Series F, Sophia Genetics is looking to both expand and consolidate.

The expansion is geographic, with the Swiss-American bioinformatics company eyeing new markets in the US and Asia. The consolidation, meanwhile, refers to using its core technology platform to bring together multiple data types to enable clinicians to tap into what the company calls "data-driven medicine."

With demand for data-driven medicine booming, "the next step is to successfully combine multiple sources of data to better address clinicians' needs," Tomer Berkovitz, partner and CFO at Israeli venture fund and Sophia investor aMoon, said in a statement. "With this shift, more complex data will be generated, and we believe that Sophia's decentralized model will play a pivotal role in empowering health organizations to offer better patient care."

Sophia has now raised $251 million total in private equity, including a $77 million Series E round that closed in January 2019, and has been working to combine many data sources to support clinical practice since its founding in 2011. Then, the company had no actual technology, but a notion that the volume of medical data would explode and become more decentralized, according to CEO and Founder Jurgi Camblong.

"It was obvious that genomics information would be the key ingredient there to be able to funnel patients suffering from [rare] disorders and in oncology," he said.

The core Sophia artificial intelligence-based analytics platform thus is meant to bring together data from disparate locations and modalities and build a network of biomedical knowledge, including genomics, radiomics, and phenotypic data.

"If you put people in a network, you can really enable them to create a kind of collective intelligence, deliver that, and with feedback loops, continuously improve their own experience for the benefit of patients," Camblong said. The more cases and the greater the volume of data fed into the platform, the more accurate and, in Camblong's view, "more clever," the AI becomes.

He said that Sophia's platform is universal, compatible with outputs from pretty much every brand of sequencing instrumentation.

"We need to remain universal," Camblong said. "Our duty, I would say, is to make sure that whatever technologies [hospitals] choose to produce the data, our AI is accurate on any combination of data."

Sophia talks often of leveraging real-world data. Multimodal capabilities address that aim, particularly in its focus area of oncology.

"Ultimately, you don't want only to know the mutations of a patient, but you really expect to know how similar patients are responding to a given type of treatment," Camblong said.

The longitudinal patient views created from multimodal data helps clinicians and researchers understand how cancer patients with similar mutation profiles respond to various drugs.

"Having molecular information is fine, but it's not sufficient because you need to be able to see how patients … and cases are evolving," Camblong said. That is where imaging comes in.

"As you combine our imaging technologies, which gives you the longitudinal view of how the patient responds to drugs, the molecular information that [tells] you what makes the tumor itself unique, and you have the treatment information, then you can start to cluster patients and see actually that there are, for example, some patients that better respond to one immunotherapy versus another immunotherapy," Camblong said.

The core analytics product hit the market in 2014. Camblong said that Sophia Genetics now counts about 1,000 hospital laboratories as users and network participants.

"We believe that there are 2,000 to 3,000 hospitals worldwide that could benefit from our technology. Those are hospitals that need to be equipped with next-gen sequencers," Camblong said.

The proceeds from the Series F will help the company expand its network into this potential customer pool.

The multinational firm set up its US base two years ago and now employs about 60 people in North America, most based in Boston. Camblong said that the new financing will allow Sophia to recruit more data scientists and computer scientists, many of whom will, when the pandemic subsides, work at or close to some of the company's hospital and commercial partners.

As one of the co-lead investors of the latest financing round, Hitachi Ventures now has an equity stake in Sophia, and Camblong sees collaborative possibilities with parent company Hitachi Group, a major producer of medical imaging and radiotherapy devices. He said that the Japanese technology giant likes to approach biomedical issues from the bottom up, just as Sophia does.

"You need to solve real problems of radiologists, of pathologists, of oncologists to get adoption," he said. "This is why we really liked Hitachi, because they understand that world the same as we do. They really consider highly the science."

He also said that Hitachi will lend Sophia credibility in Asia. Camblong said that those Asian aspirations include Japan, but did not offer other specifics about geographic expansion.

Other precision medicine companies built their technology around work with the biopharmaceutical industry before moving into the clinical market, Camblong said, specifically naming Tempus, Guardant Health, and Adaptive Biotechnologies.

"We did completely the opposite," Camblong said. "We [built or technology] bottom-up working first with the hospitals, made a real business out of it, and now we're leveraging on our assets and our technology to help biopharma."

That is where partnerships like the one with ADC Therapeutics come in. In August 2019, Sophia teamed with fellow Lausanne-based company ADC to identify genomic markers associated with clinical response to an experimental lymphoma treatment.

Since then, Sophia conducted somatic mutation analysis on more than 4,000 genes in cell-free DNA samples from the blood of patients with refractory diffuse large B-cell lymphoma who participated in ADC's Phase II clinical trial for loncastuximab tesirine, an experimental drug currently dubbed ADCT-402. Sophia used its multimodal informatics platform to match genomic markers with clinical response to the treatment.

An ADC spokesperson told GenomeWeb via email that the Phase II trial has wrapped up, but that results have not yet been made public.

Camblong said that there are two more trials in the works with unspecified biopharma partners, one called Sophia 4 Lung Cancer and involving Stage IV and metastatic non-small-cell cancer patients, and the other looking at complexities of brain cancers. Both will take multimodal approaches, he said.

Indeed, partnerships and collaborations have been central to Sophia's growth and development strategy.

In February, Sophia entered into a partnership with synthetic biology firm Twist Bioscience to make its technology platform available to customers of Twist's NGS target enrichment products to help researchers accelerate their workflows from sample collection to interpretation, particularly with whole-exome sequencing. Twist executives said at the time that the deal was intended to support the personalization of genomics research.

"For us, partnering with test-kit vendors as well as with sequencing technology players is so important because our AI ultimately needs to be very good at computing any data irrespectively of how they are being produced in a hospital," Camblong said.

This followed a 2018 deal with Paragon Genomics, under which Sophia integrated the former's CleanPlex target enrichment technologies for NGS into its flagship Sophia AI platform.

CleanPlex relies on Paragon's amplicon sequencing technology, which removes nonspecific PCR products generated during highly multiplexed PCR reactions. According to Paragon, this 10-minute digestion step is crucial in achieving high-quality libraries before targeted sequencing.

Just one day after announcing the Twist partnership, Sophia unveiled a collaboration with MGI, the instrument subsidiary of China's BGI Group.

The nonexclusive deal gives MGI users access to Sophia technology to convert previously validated assays for use on MGI's massively parallel DNBSEQ sequencers. These customers also will be able to benefit from the Sophia Set-Up Program to support both this migration and the implementation of new assays on DNBSEQ systems, the companies said. 

Illumina has been fighting in court to keep BGI sequencing equipment out of the US market, citing patent infringement. That case is pending.

Regardless of how the Illumina-MGI litigation turns out in the US, Camblong is bullish on the traction MGI's sequencers are gaining in other countries. "I think that's a very healthy situation because this will motivate each other to be better," he said of Illumina and MGI. "This will enable [growth in] the overall clinical genomics market, including the one of Illumina."

A year ago, Sophia signed a comarketing and distribution agreement with Genomenon to incorporate the latter's Mastermind Genomic Search Engine into the core Sophia AI platform and Alamut Suite genome browser for genomic analysis. 

Sophia also makes several CE-marked molecular diagnostic applications. Since 2016, Sophia has partnered with Integrated DNA Technologies to provide customers with target capture and data analytics for NGS-based clinical diagnostics. 

"It's very important for us to remain universal and innovative, hence, the partnerships with the ones building the content," Camblong said. "You want to remain universal and enable all your hospitals with whatever are the best solutions."