Sharon Terry is president and CEO of Genetic Alliance, a leader in transforming health systems by addressing the real needs of people in their quest for health. Here we talk about empowering people with their health data, partnering with scientists to accelerate medical research, and what affordable whole genome sequencing can mean for children and families around the world.
Constance Frischen: Sharon, it’s an exciting time for 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 house clinical whole genome sequencing . wealthy families around the world. Tell us why that’s important.
Sharon Terry: 250 million people in the world are living with undiagnosed diseases, 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 empower professionals to investigate 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 offer?
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 get sick or die. We sequence the whole genome, and so we work on a different scale in countries where the child doesn’t even have that first newborn screening.
Frischen: Have genome tests become cheaper?
Terry: Absolute. When the entire 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 closer to $800.
Frischen: But what if you are diagnosed with something for which we have no treatment?
Terry: We know that more than 50% of undiagnosed children can be diagnosed through whole genome sequencing. Of those children, perhaps only 50% will get a change in their care management. Genetic Alliance helps families connect their children with support and next steps, regardless of their diagnosis. We provide the data to families so that they can control access to the data and decide whether their child will participate in surveys. Prior to our not-for-profit efforts, all the major testing programs around the world had and sometimes saved that data.
Frischen: What else do you do?
Terry: Our primary principle is that people are the experts of their experience and therefore control their own data, and data is only shared with their consent. We partner with LunaPBC, a company that empowers individuals to manage their data and access it. So, with the person’s consent, any scientist with the approval of an ethics committee has access to their data. People can also share information about their experiences with the disease, which could lead to huge advances in research. And their clinical data is also shared through this system. Families share, but never lose control of their data. It is not sold. Finally, researchers can access all of this data as long as they have approval from the ethics committee.
Frischen: It would be interesting to hear how you came to this work and how you saw that the lack of parts was one of the biggest problems.
Terry: Like many parents, I hadn’t considered these issues before going on a diagnostic odyssey with our kids. It’s not a fun odyssey! We hadn’t known what was going on for years. Finally, they were diagnosed with a rare genetic disorder, pseudoxanthoma elasticum (PXE), but as this was in 1994, the gene causing the disease was unknown. There was no treatment.
Frischen: So you and your ex-husband went looking for that gene?
Terry: When my children were finally diagnosed, competing researchers wanted blood from my five-year-old and seven-year-old. I asked them to share blood, instead of subjecting the children to two needlesticks. And they said, “We don’t share. We’re competitors.” As a mother, this just felt unreasonable. And so I decided that we would own, store and manage my children’s 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 have established an institutional review board to oversee testing. Then people who ran other disease foundations asked, “Can we do that too?” and we started expanding our research. And now, with LunaPBC, we do that for hundreds of thousands.
Frischen: You require scientists to share the data when they use it?
Terry: We don’t want a seat at the table, we build our own table. We establish the rules for data sharing, while at the same time respecting that a researcher may need to have a data embargo to publish a paper or submit data to regulatory authorities. But we are essentially creating mechanisms through which results and insights can be returned to the people. The competition may be to actually get the drug on the market, rather than for people’s data.
Frischen: You 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 society will have to answer a number of questions collectively. Do we need to eliminate certain diseases? For example, in the Down syndrome and hearing loss communities, there are parents who don’t want these conditions eliminated. They don’t want the research to backfire and they don’t want to live by anyone else’s ideals. Back to the premise that each individual is the expert of their own experience.
Frischen: Going back to your current drive to expand clinical whole genome sequencing around the world, you told me that Illumina donates material, AWS donates cloud storage and Luna the data platform, but you need much more.
Terry: That’s correct. This technology donation is great. But there are a lot of other things that are needed. To walk you through some logistical questions, if you are someone, say in the Democratic Republic of Congo, how can we get you from the village to the center to get tested? Where will you stay, how will you eat? Do you need an interpreter when you get the results back? Families need a lot of support, access to treatments and be connected to interest groups and researchers. We also need to facilitate the shipment of these instruments and reagents.
Frischen: So you’re seeding local ecosystems?
Terry: Precisely. We are asking major organizations engaged in value chain, supply chain, work in the world to step up and support this program. We also ask for cash donations, as in-kind donations, for example, will not support the brilliant people we hire. We hope to sequence 50,000 children per year in five years. But there are 250 million people 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 urgently need more support.
Frischen: How do we deal with the possibility that more diagnoses could lead to more inequality, with the rich getting richer, the strong getting stronger?
Terry: Yes, that’s totally true now. Only people in affluent countries are currently sequenced for their entire genome. Our mission is based on the idea that this technology should and can be a great equalizer as we extend these technologies to those who don’t have them and work to influence policy and practicalities to expand access.
Frischen: If you put the patient in charge, responsible for their data, how does this change the trajectory of healthcare?
Terry: We’ve always had this model of scientists pursuing their own ideas rather than asking what communities really care about. Of course, biopharmaceutical companies must pursue treatments that can do well in the market and provide a return on investment. And communities can often share discoveries about interventions that won’t have a large ROI and strive to get them validated. Our combined work with Luna and others makes it possible to make these kinds of discoveries on a large scale. We support communities in involving their members, financiers, regulators and other parts of society.
Frischen: Can we more broadly apply this idea of the collective agenda, collectively owning and sharing data for the common good?
Terry: I think we see that in society. Lawsuits are pending against large companies for selling data. Many systems claim to be open, but they are actually exporting data, and it can be used in ways consumers disagree. We’ve seen that in Native American tribes, African American and Latino communities. In our system, we inform the communities about the tools at their disposal to prevent this exploitation, for example by bringing the research to the people instead of exporting the data. We help communities create policies that protect them, even to the point of providing templates that capture these protections in contracts. This way we can make data sharing a great equalizer instead of making money for a few.
Sharon Terry has been an Ashoka Fellow since 2009. Watch her TED Talk here.
Janice has been with businesskinda for 5 years, writing copy for client websites, blog posts, EDMs and other mediums to engage readers and encourage action. By collaborating with clients, our SEO manager and the wider businesskinda team, Janice seeks to understand an audience before creating memorable, persuasive copy.