A global push to get from disease genes to medicines

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The Human Genome Project’s completion in 2003 brought hope that geneticists would soon uncover the genes behind scourges such as heart disease and Alzheimer’s. But soon came a reality check: Most common diseases have been tied not to a few genes, but scores or even hundreds, each raising a person’s risk of disease by a tiny amount. Despite a growing list of these genetic markers, identified by combing the DNA of large groups of people with and without a disease, researchers have only figured out what a specific marker means for a person’s health in a few cases.

In a bid to increase that number, human geneticist Eric Lander of the Broad Institute in Cambridge, Massachusetts, and colleagues gathered last week near Washington, D.C., to launch a nonprofit, the International Common Disease Alliance (ICDA). Nearly 170 researchers from 19 countries, from Japan to South Africa, met for 2 days to talk about how to get from maps (genetic markers) to mechanisms (what a gene does inside cells) to medicines (using the information to develop treatments).

The invitation-only meeting, which was also broadcast online, was co-hosted by the National Institutes of Health (NIH), whose director, geneticist Francis Collins, gave the keynote address. Many researchers only learned about the meeting a few days before it began, drawing complaints. (One geneticist tweeted that it was “cover for a plan to siphon huge amounts of #NIH $$$ directly to the @BroadInstitute.”) In this edited interview, Lander and Cecilia Lindgren of the University of Oxford’s Big Data Institute in the United Kingdom—who with Lander co-chairs ICDA’s organizing committee—say they had to limit the meeting’s size, but they want researchers everywhere to help flesh out their plans.

The interview has been edited for brevity and clarity.

Q: Where did the idea for the alliance come from?

Eric Lander: It’s become possible to map more than 70,000 regions of the human genome that are associated with common diseases and traits. And there have been very important successes in understanding what those genes are and what they do in Alzheimer’s disease and sickle cell, inflammatory bowel disease, cardiovascular disease, schizophrenia. The huge problem is, it’s really hard, and it’s slow. I think it just crystallized in the past year and a half that the human genetics community would need to do what’s happened before, namely, to come together, and think about what steps we could take to remove the roadblocks.

Cecilia Lindgren: We’ve had discussions between a range of stakeholders, ranging from biologists, to geneticists, to people from biotech and pharma, about why we have a bottleneck. We realized that no individual, no group can really solve that problem. But we need to gather stakeholders together with a coherent mission of moving together. We want to be seen as a vibrant, diverse, inclusive ecosystem.

Q: Why not leave it to NIH’s genome institute?

E.L.: The genome institute itself has declared that it can’t do it alone anymore. They are only funding 10% of genomics at the NIH, let alone around the world. This ICDA is not making any decisions, what it’s doing is it’s trying to be a forum to bring together people so that there is a place where all these conversations can happen. What are the roadblocks and what are possible solutions?

Q: You plan to release a white paper in January 2020. Will it describe specific projects that will need funding?

E.L.: I don’t think it’s just projects. It’s what are the barriers? Some of them might cost nothing, like a way to share the summary statistics from every GWAS [genome-wide association study]. But maybe we need the journals to enforce it or the funders to enforce it. So, it’s not a question of money. It’s a question of what should be the policies.

Q: There was some grumbling from people didn’t know about the alliance launch meeting.

E.L.: We needed a room and the room held a certain number of people. So, we invited folks based on as many diverse networks as we could get. And then we invited the whole world to watch. We took the unusual step of streaming the whole thing live to anybody and everybody and leaving it there for everybody to still watch. So it’s meant to be very inclusive.

Q: Where are you hoping you’ll be in a few years?

E.L.: It’ll be really easy for a young researcher interested in the field. We will have well worked out paradigms that let us go from human genetics to cellular mechanisms to physiology, with a whole lot of tools and the resources that make it easy. They won’t understand why it was ever hard.

C.L.: For me, I hope that we will also bring together the community and enable the community more globally to contribute and make a serious dent in common complex disease. Trying to get to the therapeutic end of it will be an additional thing that I think will be so exciting.

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