CHICAGO (GenomeWeb) – Over the last year or so, British clinical genomics interpretation software vendor Congenica has begun to broaden its commercial footprint into the US and China.
Two weeks ago, Congenica formed a strategic partnership with Hong Kong-based Digital China Health Technologies, known as DCHealth. The Cambridge, UK-based firm will tailor its flagship Sapientia genome analysis platform for the Chinese market. DCHealth, which has a strong presence in Chinese hospitals, will lead the marketing of this localized version of Sapientia, a modular and scalable data analytics tool for annotating and clinically interpreting genomic sequence data to support clinical decision-making.
Another Chinese company, BGI Genomics, is both an investor in and a client of Congenica, while Beijing-based UniteGen in June 2017 agreed to use the Sapientia clinical genome analysis software platform for a large-scale genomics project in the world's most populous country. UniteGen relies on Sapientia for whole-genome sequencing processing and analysis for the 100K Wellness Pioneer Project — an initiative to analyze the genomes, metabolomes, proteomes, and clinical symptoms of 100,000 Chinese individuals in order to build a database for disease prevention and health management.
CEO David Atkins said that the the DCHealth partnership represents "a very important market access opportunity" for Congenica. DCHealth is a subsidiary of Digital China, a technology firm that was spun out of the company that is now Lenovo.
"What attracted us to them was the fact that they have been very involved in building the digital infrastructure within China. Given the nature of our product offering, they know software, they know how to deliver both data architecture and IT architecture, and they have commercial reach in China," Atkins said.
That market has different dynamics than Europe or the US, which have far more mature healthcare industries and thus have been adopting genomics piecemeal.
"In medicine, as well as in many other areas, the opinion leaders and the decision-makers in China recognize that the path forward isn't necessarily following all the lessons learned in other countries and other healthcare systems," Atkins said.
"Particularly in the space of genomic medicine, they see that there's an opportunity for them to jump ahead by adopting new technologies, particularly in the fields of rare disease and cancer," Atkins explained. "Rather than building an entire system of individual tests and single-gene tests, why not jump ahead and adopt genomic medicine wholesale?"
Thus, Congenica is working with DCHealth to modify its technology platform for the specific conditions of the Chinese market.
Notably, Atkins said, Chinese institutions are less willing than those in the West to send patient data to an external cloud, so there is a particular need for secure, local installations.
"We enable our customers to be able do the genomic analysis rather than looking to export and then repatriate results. It's a straightforward environment for us to work in, given that we have a mature and informed local partner to help us navigate through the market," he explained.
A second factor in the decision to partner with a Chinese company is not unique to China: shortages of genetic counselors and scientists able to interpret genomic results.
For this reason, Congenica is trying to position Sapientia as a means of removing some of the manual interpretation work out of the genomic analysis and reporting processes via machine learning-driven clinical decision support.
"We use [artificial intelligence] for doing analysis to allow us to support algorithms that make better diagnostic decisions," Atkins said.
"If we want to take genomic medicine out of the more complex tertiary centers and have it apply to more routine pharmacogenomic or mainstream disease or risk factor assessment, we have to have a software platform that can be used in a secondary and potentially a primary care setting," he added.
With regard to the American market, Congenica has been cautious, taking time over the last two years to understand that the US does not have a national health system like most European countries.
"We were cognizant of the fact that we have developed a platform in the UK system, in the National Health Service. We were aware enough to say that we need to be clear that we haven't developed something for just a single customer," Atkins said.
Research on the US market has convinced Congenica that US hospitals and genetic laboratories are looking for three things: higher diagnostic yield, better workflow management, and confidence in the results. "If there is a result, they want know how that result was arrived at, which data was used, who was the operator, and all the things that you would expect in a qualified laboratory," Atkins said of the third factor.
Congenica has not formally announced any US customers, but is getting ready to go live with the New York Genome Center after building a relationship for a year and a half, according to Atkins. The work validated Congenica's market research. "We learnt early on that those three requirements of productivity, workflow management, and quality certainly resonated with them," Atkins said.
This work with the New York Genome Center and with the Chinese companies represents new horizons for a company moving out of the startup phase.
Congenica, founded in 2013 by scientists from the Wellcome Trust Sanger Institute near Cambridge and the Great Ormond Street Hospital in London, launched Sapientia in 2014 for use in clinical decision-making related to treating rare, genetic pediatric diseases and developmental disorders.
The company soon became one of three interpretation service providers for the UK's 100,000 Genomes Project, along with Fabric Genomics and WuXi NextCode. Sapienta also is part of the first whole-exome sequencing project in Portugal and the Prenatal Assessment of Genomes and Exomes (PAGE) project in Britain, which is evaluating the use of exome sequencing for non-invasive prenatal testing.
Since day one, Congenica has employed licensed clinical geneticists. "Ultimately, our user is the clinical geneticist," Atkins said.
According to Atkins, having geneticists in-house helps the company get new customers online quickly as they build genomic medicine programs.
"They want to be able to use a software platform, but they don't necessarily have the resources to be able to drive the platform," Atkins explained. While Sapientia is meant to automate genome interpretation as much as possible, these in-house scientists are available to assist clients with difficult complex cases.
"Ultimately, we want to be automated to the extent that even our customers' clinical scientists are really only focusing on the very complex cases, and the automation will take care of the more routine cases," Atkins said. He said this is similar to the direction that histopathology is headed.