A Genetic Data Matchmaking Service for Researchers
Several years ago, Patrick Short, PhD assessed direct-to-consumer (DTC) genetic testing companies and found serious flaws. “I felt there were many ways that DTC genetic testing could be improved, such as giving people more ownership over how their data was being used,” Dr. Short explained. At the time, he was working on his PhD in Mathematical Genomics and Medicine at the University of Cambridge and Wellcome Sanger Institute. During his studies, he realized there was also a need for researchers to have faster and better access to individuals willing to share their genetic data for research. In 2017, Dr. Short and fellow classmates William Jones and Charlotte Guzzo decided to fill these critical gaps and create their own company, Sano Genetics.
Today, Sano Genetics is matching thousands of people and their genetic data with research projects in the UK and Europe. In addition to offering DTC sequencing kits, customers can upload their genetic data from other sources to the Sano Genetics platform. Customers can then decide if, and when, they want to share their information with researchers. Scientists, in turn, can access this treasure trove of genetic and health information, all with the user’s consent. Through its work, Sano Genetics aims to make research easier and more streamlined, drive scientific discovery, and help people obtain more value from their genetic data.
iCommunity spoke with with Patrick Short about his vision for Sano Genetics, the critical role the company plays as an intermediary between researchers and individual’s consented genetic data, and the value that Illumina array and sequencing technologies provide in their product offering.
Patrick Short is the CEO and of Sano Genetics in Cambridge, UK.
Q: What inspired you to start Sano Genetics?
Patrick Short (PS): During my PhD I realized that genetic and health data are often very siloed and static, which makes it slow or sometimes impossible to answer some research questions. For example, it is difficult to link together genetic data with electronic health records and then invite an individual participant for a follow-up study. The data from a research paper might be available online, but it’s impossible to ask the individual follow-up questions. It was a limitation that needed to be resolved.
Also, I felt there were several ways that DTC genetic testing could be improved, such as giving people more ownership over how their data are being used. There have been many news stories about people not fully understanding how their data are going to be used after they’ve had DTC tests performed. With these things in mind, we set out to build a platform that connects people to research and personalized medicine studies, gives them control of their data, and allows them to access free sequencing as part of research projects and clinical trials.
Q: What is the focus and mission of Sano Genetics?
PS: Our mission is to build the world’s largest ethical source of genomic and biomedical data to support advances in personalized medicine. For the next few years, we’ll work directly with customers, patient organizations, and health care systems to connect interested people with research studies. If everyone has control over their own genetic data, then an ever larger and more useful data set can be created.
Q: Sano Genetics provides customers with dynamic consent. What does that mean?
PS: Dynamic consent means that people have full control of their data and they can opt in or out of research studies. Every major DTC genetic testing company that I’m aware of requires its customers to sign terms and conditions that say the company can use their data for whatever they want. At Sano Genetics, we’ve built a system that enables people to decide whether they want their genetic data to be analyzed for research, or whether they want to be asked every time a researcher requests access to the data for a study. Our customers can change these preferences at any time. This applies to customers who upload their genetic data to our database or have us sequence their DNA.
"The Sano Genetics DTC approach, where free sequencing is offered to individuals who have rare disorders, can accelerate research quickly."
Q: How is your company’s database valuable for researchers and how does it differ from current biobanks?
PS: It’s not possible to include someone whose DNA is in the UK Biobank in a clinical trial because the biobank wasn’t set up for that purpose. This is the case for most biobanks. In contrast, we’ve set up Sano Genetics as a ‘digital biobank’ with a patient-centric interface built on top of it. If a researcher finds a DNA sample in our biobank that fits their clinical trial and they’re interested in understanding more about the person connected to it, then they can contact that person anonymously and securely through our platform. We are also working with existing biobanks to enable them to do things like clinical trial recruitment or asking participants to provide real-world data such as symptom tracking, using our software platform.
One of the research projects that we’re involved with currently is in the field of pharmacogenomics. With our biobank, researchers can easily identify people who have a rare genetic variant linked to metabolizing a certain medicine in a different way. Rather than having to screen thousands of people to find the 1% who carry that genetic variant, they can look in our database, identify those people, and recruit them for a study. This is a much more efficient way to do things.
Q: What research entities are you working with?
AR: Currently, half of our research entities are academic researchers, mostly in the UK, working on genomic studies and some small clinical trials. The other half are pharmaceutical and biotech companies conducting clinical trials or genome-wide association studies for drug discovery.
Q: What projects is Sano Genetics working on with researchers?
PS: We are currently helping researchers find participants for several clinical trials, including in digestive conditions such as inflammatory bowel disease (IBD) and several rare disorders. We completed a pharmacogenomics study with Owlstone Medical, which is based in Cambridge, and also have work ongoing with the University of Liverpool looking at stomach ulcers and genetic variants, and another with the University of Cambridge on the genetics of autism spectrum disorder.
Q: How do you protect customer data?
PS: Protecting customer data is incredibly important to us. There are design and structural elements of our platform that enable people to control exactly how their data are used. There’s an additional protection layer below that, which provides information security and data encryption on our servers.
Q: How does your company connect researchers with customers while still preserving anonymity?
PS: That’s where the Sano Genetics team steps into the equation. A researcher describes the archetype of the individual they would like to include in their study. For example, they need people who have been diagnosed with Crohn’s disease and who carry a specific genetic variant. Our team gets in touch with Sano Genetics customers who fit the profile to invite them to participate in the study. The researcher only hears back from the people who have consented to join the study.
When researchers are analyzing data submitted to Sano, it is usually in an anonymized and aggregated form. If the researcher needs to work with individual-level data, for example for a clinical trial, we make sure that the individual is aware of this.
Q: What benefits could the Sano Genetics DTC approach provide for personalized medicine studies?
PS: There are several instances where our DTC approach can benefit personalized medicine. The first is in harnessing data to power discovery and validation of new algorithms. The second involves targeted sequencing in cohorts of interest. What’s great about many large-scale biobanks is that they have hundreds of thousands of people who represent a broad range of the population. However, these biobanks don’t always have in-depth data into any specific group. The Sano Genetics DTC approach, where free sequencing is offered to individuals who have rare disorders, can accelerate research quickly. The fact that it’s a DTC offering adds convenience, enabling people to submit a sample from home rather than going into a lab.
"The first is a genotype array using the Infinium Global Screening Array (GSA). It is the least costly and offers the most value, providing ancestry, trait, and health information that people want."
Q: How does Sano Genetics differ from other DTC companies?
PS: The key difference between Sano Genetics and other DTC companies is our business model and our focus on research. Most DTC companies first try to sell kits to individuals and then take the data and retrofit it into research studies. Selling sequencing kits to consumers isn’t our business model. We take the opposite approach, where we focus on research problems and perform the DTC sequencing to meet those needs.
Q: How does your company attract individuals to participate in Sano Genetics offering?
PS: Sano Genetics has two main groups of users. First, there are a number of people who have heard about us through an article or google search and are interested in genetics. If they already have genetic data, they can upload it. If they don’t have it, but are eligible for one of our research projects, they can receive free testing through a project. If they’re not eligible, they can purchase a sequencing kit.
Our second group of users come via referrals from patient organizations or digital health companies that they’ve signed up with because they have a specific condition. With this method, we’re finding people for whom the research is targeted. We’re not wasting people’s time with something that isn’t going to benefit them. For that kind of audience, the value proposition is clear because clinical trials often provide an opportunity for better care than they would otherwise receive.
"WGS is the gold standard for research and clinical analysis. It’s essential for people with rare or chronic diseases who are interested in powering research studies and getting insight into their own genetic profiles."
Q: What types of DTC tests do you offer?
PS: We offer three different types of kits for DTC tests and research projects. The tests are analyzed at a service provider in Cambridge. The first is a genotype array using the Infinium™ Global Screening Array (GSA). It is the least costly and offers the most value, providing ancestry, trait, and health information that people want. What the genotype array doesn’t provide is depth or accuracy around rare genetic variation.
We offer Exome Plus, which combines GSA data with data from high-coverage (50×) exome sequencing on an Illumina sequencing system. It’s about half the price of WGS but provides the best of both worlds. The customer receives genome-wide information and detailed genetic information in coding regions, which is very useful for detecting rare gene variations for rare disease studies.
The third test is whole-genome sequencing (WGS) using an Illumina sequencing system, which provides the most information. WGS is the gold standard for research and clinical analysis. It’s essential for people with rare or chronic diseases who are interested in powering research studies and getting insight into their own genetic profiles.
Q: What information do you provide to customers and how do you provide it?
PS: We provide customers with trait reports and update them frequently. When we recruit people for a research project or clinical trial, we provide our research customers with analysis pipelines that our team has written.
Q: Are there instances when you connect individual customers to genetic counselors?
PS: Not yet, however, we’re developing a medically relevant report that we could provide customers with access to a genetic counselor. They could also take this data to a health care provider for additional support. If we can build this information into the larger patient journey as part of the health care system, then we have the potential to deliver a lot more value.
Q: What is the feedback you’ve heard from customers who have been involved with the research?
PS: The feedback from our customers has been very positive. For several research projects, we’ve been able to increase the sample size they can use dramatically and enabled them to access the participants they need faster. Participants in the research projects also really enjoy being able to help make a contribution, and we keep them updated on the progress of the research.
Q: What’s the value of offering a service based on Illumina products and sequencing systems?
PS: Illumina is a market leader for a good reason. We’ve run our tests on other sequencing systems and haven’t found any that surpass the data quality of Illumina. There are many DTC companies using the GSA or an earlier version of the Illumina microarray. It made sense to use an array that would make it easier for us and researchers to meta-analyze the data together.
Q: What are your plans for increasing the number of researchers using your data base?
PS: Currently, we’re working with researchers in the UK and Europe. We want to increase our presence into more of the biotech and pharma companies in these areas. We’re also looking to expand into the US in the next year or two. The market opportunity is large and increasing, especially in terms of genomics and precision medicine research.
Q: Will Sano Genetics be expanding its customer base globally?
PS: We’re currently offering tests in the UK, some parts of Europe, and in the US. It will be a logistical challenge to expand outside of these regions. We’re trying to keep it geographically constrained so that we can focus on matching the right people with the right research projects.
"Illumina is a market leader for a good reason. We’ve run our tests on other sequencing systems and haven’t found any that surpass the data quality of Illumina."
Q: What do you see as the future of consumer genomics?
PS: In 5-10 years we will see a dramatic change in the way that the consumer genomics market is structured. I believe that more sequencing will be performed at the health care system level, so genetic sequencing will be a test that most people will have performed once by the health care system, and groups like us can help this data to be interoperable with research. The consumer space will shift away from genetics and possibly toward RNA sequencing or epigenomics, which in turn will also eventually be brought into the health care system for cost-effective use cases. While it’s not clear exactly what the use cases are for those in health care, innovative companies and academic researchers will figure out where there are great applications.
Learn more about the products and systems mentioned in this article:
Infinium Global Screening Array, www.illumina.com/products/by-type/microarray-kits/infinium-global-screening.html
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