Sharon Terry is President and CEO of Genetic Alliance, a leader in transforming health systems by being responsive to the real needs of people in their quest for health. Here, we talk about keeping people in charge of their health data, partnering with scientists to accelerate medical research, and what affordable whole genome sequencing can mean for children and families worldwide.
Konstanze Frischen: Sharon, it’s an exciting time for your work: Genetic Alliance recently received a $120 million in-kind donation of instruments and reagents from Illumina, cloud storage from AWS, and a data management platform from LunaPBC, to bring clinical whole genome sequencing to under-resourced families across the world. Tell us why that matters.
Sharon Terry: 250 million people in the world live with undiagnosed illnesses, many in Africa, Latin America, and South Asia – low- to middle-income countries. If they don’t know what disease they have, they can’t act. So, getting a diagnosis, which allows them to seek treatment and allows professionals to research that condition, is life-changing.
Frischen: In my home country, Germany, newborns are automatically screened for certain genetic diseases. What is the difference between that approach and what you’re offering?
Terry: Well, Germany tests for 14 diseases at birth. But there are 7,000 others and so many children are not picked up by newborn screening and go on to become sick or die. We sequence the entire genome, and so we’re working on a different scale in countries where the child won’t have even that initial newborn screening.
Frischen: Has genome testing become less expensive?
Terry: Absolutely. When the whole human genome was first sequenced in the late 1990s, it cost a billion dollars and took 13 years. Now certain labs can do it in just one day, and the cost is nearer $800.
Frischen: But what if you’re diagnosed with something we don’t have a treatment for?
Terry: We know that more than 50% of undiagnosed kids can receive diagnosis from whole genome sequencing. Of those kids, maybe only 50% receive a change in their care management. Genetic Alliance helps families connect their kids with support and next steps regardless of their diagnosis. We provide the data to families so they can control access to it, and decide if their child will participate in studies. Prior to our nonprofit effort, all large testing programs around the world siloed and sometimes hoard that data.
Frischen: What do you do differently?
Terry: Our primary principle is that people are the experts of their experience, and therefore control their own data, and that data is shared only with their permission. We’re partnered with LunaPBC, a company that enables individuals to control their data and access to it. So, given the person’s permission, any scientist with an ethics board approval can access their data. People can also share information about their lived experience with the disease, which can unlock tremendous progress in research. And their clinical data is shared through this system as well. Families share, but never lose control of their data. It is not sold. Finally, researchers have access to all these data as long as they have ethics board approval.
Frischen: It would be interesting to hear how you came to this work, and how you saw that lack of sharing was one of the main problems.
Terry: Like many parents, I hadn’t considered these issues before we went on a diagnostic odyssey with our kids. It’s not a fun odyssey! We didn’t know what was wrong for years. Finally, they were diagnosed with a rare genetic condition, pseudoxanthoma elasticum (PXE), but because this was 1994, the gene causing the disease was unknown. There was no treatment.
Frischen: So you and your former husband went looking for that gene?
Terry: When my kids were finally diagnosed, competing researchers wanted blood from my five-year-old and seven-year-old. I asked them to share blood, instead of subject the kids to two needle sticks. And they said, “We don’t share. We’re competitors.” As a mother, this just felt unconscionable. And so I decided that we would own, store, and steward my kids’ biological samples and other data. We would make the rules about who came to use these samples and data and how it would be used. We built a research consortium, a biobank, and a registry. We established an institutional review board to oversee testing. Then people managing other disease foundations asked, “Can we do that too?” and we began to expand our research. And now, with LunaPBC, we’re doing that for hundreds of thousands.
Frischen: You’re requiring scientists to share the data if they’re tapping into it?
Terry: We don’t want a seat at the table, we build our own table. We set the data sharing rules, and at the same time we respect, that a researcher might need to embargo data to publish a paper or submit data to regulatory agencies. But we are essentially creating mechanisms that enable results and insights to be given back to the people. The competition can happen around actually getting the drug to market, rather than people’s data.
Frischen: You’ve studied theology; have you encountered any ambivalence about these cellular interventions and the idea of “playing God”?
Terry: I really respect where people come from. Systems like Luna leave it up to the individual whether they want to participate in research and what kind. I think that society will have to answer some questions collectively. Should we eliminate certain diseases? For example, in the Down Syndrome and hearing loss communities, there are parents that do not want these conditions eliminated. They don’t want research to diminish, and they don’t want to live by someone else’s ideals. Back to the basic premise that each individual is the expert of their own experience.
Frischen: Coming back to your current endeavor of expanding clinical whole genome-sequencing across the globe: you had told me that Illumina is donating materials, AWS is donating cloud storage, and Luna the data platform, but that you need much more.
Terry: That’s correct. This technology donation is amazing. But there’s a whole lot of other things that are needed. To walk you through some of the logistical questions, if you’re someone let’s say in the Democratic Republic of Congo, how can we get you from the village to the center to get you tested? Where are you going to stay, how are you going to eat? Will you need an interpreter when the results are brought back to you? Families need lots of support, need to access treatments, and be connected with advocacy groups and researchers. We also need to facilitate shipping these instruments and reagents.
Frischen: So you’re seeding local ecosystems?
Terry: Exactly. We’re asking big organizations that do value chain, supply chain, work in the world to step up and support this program. We’re also asking for cash donations because in-kind donations won’t, for example, support the brilliant people we hire. We hope in five years to be sequencing 50,000 kids a year. But there are 250 million who go undiagnosed. If you do the math, it would take 6,000 years to diagnose all the people on the planet who need results today. So, we desperately need more support.
Frischen: How do we address the possibility that more diagnoses may lead to more inequality, with the rich getting richer, the strong, stronger?
Terry: Yes, that’s absolutely true right now. Only people in affluent countries are currently getting their whole genome sequenced. Our mission is built on the idea that this technology should and could actually be a great equalizer, if we expand these technologies to those who don’t have them and work to influence the policies and practicalities to expand access.
Frischen: When you put the patient in the driver’s seat, in charge of their data, how does this change the trajectory of healthcare?
Terry: We’ve had this model forever of scientists pursuing their own ideas instead of asking what communities really care about. Of course, biopharma companies have to pursue treatments that can do well in the market and create a return on investment. And communities can often share discoveries about interventions that won’t have a great ROI and pursue getting those validated. Our combined work with Luna and others allows this kind of discovery to be commoditized and done at scale. We support communities as they engage their members, funders, regulators, and other parts of society.
Frischen: Can we apply this idea of the collective agenda, collectively owning data and sharing it for the public good, more broadly?
Terry: I think we are seeing that in society. There are lawsuits against big corporations for selling data. A lot of systems claim they’re open, but they’re actually exporting data, and it might be used in ways consumers don’t agree with. We’ve seen that with Native American tribes, African-American and Latino communities. In our system, we are educating the communities about the tools available to them to prevent this exploitation, for example, bring the research to the people instead of exporting the data. We help communities craft policies that protect them, even to the point of providing templates that codify these protections in contracts. That’s how we can turn the sharing of data into a great equalizer rather than a money-maker for the few.
Sharon Terry is an Ashoka Fellow since 2009. Watch her TED Talk here.