Jocelyn Kaiser and Ann Gibbon in Science:
In early 2017, epidemiologist Rory Collins at the University of Oxford in the United Kingdom and his team faced a test of their principles. They run the UK Biobank (UKB), a huge research project probing the health and genetics of 500,000 British people. They were planning their most sought-after data release yet: genetic profiles for all half-million participants. Three hundred research groups had signed up to download 8 terabytes of data—the equivalent of more than 5000 streamed movies. That’s enough to tie up a home computer for weeks, threatening a key goal of the UKB: to give equal access to any qualified researcher in the world. “We wanted to create a level playing field” so that someone at a big center with a supercomputer was at no more of an advantage than a postdoc in Scotland with a smaller computer and slower internet link, says Oxford’s Naomi Allen, the project’s chief epidemiologist. They came up with a plan: They gave researchers 3 weeks to download the encrypted files. Then, on 19 July 2017, they released a final encryption key, firing the starting gun for a scientific race.
Within a couple of days, one U.S. group had done quick analyses linking more than 120,000 genetic markers to more than 2000 diseases and traits, data it eventually put up on a blog. Only 60,000 markers had previously been tied to disease, says human geneticist Eric Lander, president and director of the Broad Institute in Cambridge, Massachusetts. “[They] doubled that in a week.” Within 2 weeks, others had begun to post draft manuscripts on the bioRxiv preprint site. By now, those data have spawned dozens of papers in journals or on bioRxiv, firming up how particular genes contribute to heart disease, diabetes, Alzheimer’s, and other conditions, as well as genes’ role in shaping personality, depression, birth weight, insomnia, and other traits. More controversially, data from the trove also pointed to DNA markers linked to education level and sexual orientation, stoking long-running controversies about the application of genetics to behavior in people.