entrePRECISIONeur

A key goal in precision medicine is to get the right therapies to the people that need them in as effective and timely a way as possible. Better connecting patients and researchers is one way to achieve this and is something that Patrick Short, CEO of Sano Genetics in Cambridge, U.K., is passionate about.

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Patrick Short, CEO of Sano Genetics

Senior editor Helen Albert spoke to him about his journey from Wellcome Sanger Institute PhD student to CEO and about how he and his colleagues hope to improve research and accelerate precision medicine by helping researchers find the right patients for their clinical trials.

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Sano Genetics' co-founders (L-R) William Jones, Patrick Short and Charlotte Guzzo

Q: What is the story behind Sano Genetics?

Patrick Short: The other co-founders and I had all worked in large scale genetic studies. One of the things that was always very strange to us was the fact that it was really difficult for researchers to recontact participants in their research studies. It was also really difficult for participants to have any clue what was going on with the research. It seemed like you could solve both of these problems by forming a tighter connection between the researchers and their participants.

We quickly figured out that this was a problem, not just in the academic research world where we started, but it was also a big problem in the industry.… Researchers in pharma companies and biotechs have the same set of problems. We thought if we could provide an easy way for them to do it, then it would be a win-win for the participants and the researchers. So that was really the start of Sano back in 2017. We were still PhD students, and then when we finished, we started the company.

We began with a really simple website where participants who'd already joined a genetics research study could join and learn more about the research they were taking part in. It wasn't particularly complicated from a tech transfer perspective, because we weren't actually spinning out our research. We had a lot of discussions with the University of Cambridge and with the Sanger Institute, and they were all really supportive. The university actually ended up investing in every round through their seed fund.

Q: How was the transition from being a PhD student to running a company?

PS: I was always interested in seeing the science that I was working on have an impact. And I liked the idea of the interface between basic research and actually seeing it come to fruition in some really tangible way.

I was an undergraduate with Joseph DeSimone at Stanford University. He spun a couple of companies out of his lab, and his lab was very much like a startup incubator. Then I worked with Matt Hurles at the Sanger Institute for about four years, and he spun out a company called Congenica while I was there. It's great to have role models that you can see doing that and making it work.

More practically, there were a lot of things that I was not exposed to as a PhD student that I had to learn and upskill on very quickly, the main one of which is people management and working as a team. I was fairly fortunate in Matt's group at the Sanger. It was a lot of team science … but you really don't have an experience as a PhD student of hiring 40 people over the course of three years or so and figuring out how to make an organization work.

I've had a lot of great support from our investors, advisors, and other kinds of people to just help me grow from that PhD student to the CEO role, which has been a lot of fun.

Q: Why is the issue you are trying to tackle important for precision medicine?

PS: There's a big Catch-22 in precision medicine and in genetics, which is that we all agree that if we could better stratify patients into what kind of medicine they should be get getting, then it'd be better. But in most countries, the U.S., U.K., and almost everywhere else, genetic testing won't be paid for by the healthcare system until there's an approved therapy for one of the genetic subtypes. The reason is because the healthcare system sees the genetic testing as a cost. If it's not going to change the patient's care, then why would we pay for this genetic test? The problem there is that if you're running a clinical trial, or if you're doing research, you need that data in the first place to prove that the medicine is safe and to find patients to prove that it works.

We think there are two solutions to this. One, there's a lot of genetic testing that's already being done through research, so why shouldn't that be made more accessible? If we think about large-scale genetic testing programs like the U.K. Biobank or others like that, there's no reason that we shouldn't be able to reconnect with patients who have already been tested for clinical trials.

The second piece is just making it easier for people to get tested in the first place, especially when the healthcare system won't pay for it. We're trying to break that negative cycle and turn it into a positive cycle where more testing leads to faster discoveries, which increases the value to the healthcare system of testing.

Q: How are you persuading researchers or companies that your services are valuable?

PS: You have to balance how difficult it is for a researcher to adopt something like this versus what is the value to them. Almost every large-scale genetic testing study—All of Us in the U.S., Our Future Health and the NIHR [National Institute for Health and Care Research] BioResource here in the U.K.—they all have really strong participant-facing elements now.

This is because scientifically we've realized a couple of things: First, you can never collect everything in the first questionnaire, so you need to be able to go back. Second, you can never collect enough samples; there's always going to be new types of 'omics. Finally, and this is a win for both patients and researchers, recontacting people to take part in research that will actually be potentially transformative for them in their families … there's an enormous value to science there.

It does have to be easy. What we're focused on is making it so when you set up one of these studies, you can have a participant portal where people can come and engage and you can be up and running within a week. You don't have to think about all the little pieces. It's just a press of a button.

Q: What is the business model for the company and who are your competitors?

PS: It's free for patients—they can take their data with them and there is no obligation to take part in studies—but the researchers pay to use the platform and for how much genetic testing that they do.

There are a couple of companies in the U.S. that I'd considered to be competitors, but not necessarily direct competitors. Color is one of them; Invitae would be another. They run and own their own labs, which can be a good thing, but it also prevents them from really offering a global solution. We just focus on the software, and we partner with labs wherever the studies are running. As we expand, we also think it will help us to add new assay types more quickly.

Q: How are you tackling the problem of improving participant diversity in trials?

PS: This has always been a really important part of what we do. We found from early on that the fact that people can take part entirely from home and entirely online makes achieving a representative population a lot easier than an approach that forces people to arrive at a hospital site or a clinical trial site.

It doesn't fully solve the problem. Just having a technology that says you can do it at home and online isn't a guarantee that your studies can be representative. The other really important thing we found is that you have to engage with marketing partners and community partners that actually have trust already built with communities that you're looking to engage with.

One of the things that's been a frustration for us is a lot of academic research funding doesn't really recognize this as a priority, in the sense of actually funding recruitment for diverse studies. When push comes to shove, a lot of the feedback from the grant funders is, “We can't fund recruitment. We'll fund the testing, we'll fund the scientists' time, but not recruitment.” If you really want to solve the problem, you need to pay people who know how to engage with underrepresented communities to help them to find their way to research.

Q: What are your future plans for the company?

PS: We're 45 people today, but we're growing a lot. We're focused on a couple things. One is we're growing internationally. Part of making research more representative is not operating just in English, and not operating just in the U.S. and U.K. So, we've got a number of EU countries that we're expanding into this year, and in 2024 we're expecting to expand into Latin America as well.

We're also working a lot on the product side to make it faster and easier for somebody to set up one of these programs. By the end of the year, we expect that people will be able to set up a genetic testing study with us in less than a week and run it in multiple languages and multiple countries.

We want to ensure researchers don't have any reason why they couldn't have full longitudinal data and the ability to recontact participants and update consent baked into their study from the very beginning by using a platform like ours.