A recent article in Science showed that “surprisingly few” new parents were open to having their babies’ genome sequenced. Figures revealed that 7% of more than 2400 couples approached by researchers declined to take part in a study. While Robert Green, a geneticist at Harvard University highlighted that “the ‘very surprising’ figure is the same both for parents of very sick infants and those with healthy babies”.
Genome sequencing may still sound a little futuristic but the advantages to individuals could prove considerable. These include the ability to identify potential diseases – like a propensity towards heart disease which would show no symptoms – along with the opportunity to determine how individuals might react to certain medicines. These have lifelong health implications. Yet the parents who chose not to include their children in the trial cited the logistics of taking part along with their wider privacy concerns.
Whatever your initial reaction to the idea of genome sequencing it is hard to ignore the fact this is a health trend which is beginning to take off. And Sophia Genetics is a company which sits at the cutting edge of the trend. “We are at least two years ahead” of others in the market with the largest genome database Jurgi Camblong, the CEO and co-founder, tells me over the phone.
Based in Switzerland, Sophia Genetics has $33 million in current funding and is backed by the likes of Mike Lynch and Marc Coucke. These have a lot of experience and “bring more than just money,” to the table explains Camblong.
The company launched commercially in 2014 and came out of the realisation that firstly it was “better to diagnose and treat patients based on DNA,” and secondly “there would be a change in paradigm in healthcare”. Part of this sea change comes down to advances in science. Sequencing the first human genome took 13 years and $3billion. Right now it can be done in a single day for less than a $1000.
But the big question perhaps comes down to concerns around privacy and health data. This has been seen loud and clear in all the fuss and furore around Google Deep Mind’s involvement in the UK’s National Health Service. Yet Camblong says tells me it has not been an issue for his business. “Very wisely,” he says “we didn’t go with any direct to consumer approach.” This means everything is done through healthcare providers. And, “we never get negative feedback on data [issues from patients].”
“When you’re ill you just want to be better diagnosed,” he explains.
Sophia Genetics is currently used in over 200 hospitals in over 30 countries. This number is constantly changing, says Camblong. “We’re signing about 10 hospitals a month.”
It was hard to integrate with hospitals at first, he says “because we were talking about critical data”. However, “the difficulty has obliged us to create technology that is unique.” It has enabled us to deliver SaaS, he adds. At the heart of the technology is an AI engine. The system can perform analytical processing from blood data in the cloud in around two hours.
Camblong believes the forthcoming GDPR regulations will make things work better in the space. “We’re already the good students because we’re doing everything anyway,” he says but it is always an improvement to have standards in place. “Until rules are set hospitals have naive arguments about why they shouldn’t work with you.”
The results of all this are also cumulative. The more data that goes into the system the better it is at determining wider patterns from the population and the more useful it becomes to society as a whole. In the case of cancer tumours only a fraction are currently being sequenced in Europe but Camblong believes we should be sequencing all of them to track and better treat the disease.
By combing AI sequencing it should be possible to diagnose cancer from blood, he adds. How early this can be diagnosed “depends very much on the type of cancer”. This means although the company is very good at capturing genome data the next step is to collect more local information in order to provide better data-driven medicine.
At present Sophia Genetics has not properly ‘launched’ in the US but it has begun to partner with US hospitals and “we expect the uptake to be dramatic,” says Camblong. He sees having roots in the complexity of Europe as a real advantage and uses the analogy of the body’s immune system. Camblong also sees a clear advantage in being a specialist as distinct from all the tech behemoths which are circling round the health space.
“IBM [Watson] can’t do what we do by far. Google [DeepMind] can’t do what we do by far,” says Camblong. “The only way of building something solid is the way we did it” – from the bottom up with the help of experts. “You cannot just take technology and put it in a world you don't understand.”
He believes ultimately it will be a European company that succeeds in the space. This is because European technology tends to be better and although marketing and execution can be challenges so “it is harder to make it in Europe”. This is an advantage, he says, returning to his immune system analogy. When something is stressed it makes it stronger.
Phil Muncaster reports on China and beyond