美国国家公共电台 NPR UK Biobank Requires Earth's Geneticists To Cooperate, Not Compete（在线收听）

SCOTT SIMON, HOST:

Scientists announced the results of a study on sexuality this week. They say they found a genetic link to being LGBTQ, but it's spread widely across the genome and not limited to a single gene. To reach that conclusion they used a repository called the UK Biobank which has quietly become a major resource for scientists around the world. NPR's science correspondent Richard Harris has the story about how this unique research tool came about.

RICHARD HARRIS, BYLINE: The UK Biobank is a collaboration of scientists and civic minded Brits, including a 70-year-old man from Nottingham.

CHRISTOPHER FLETCHER: Hello. My name's Fletcher, I have an appointment at 1:30.

HARRIS: Christopher Fletcher has driven 90 miles from home to a radiology clinic outside Manchester. A decade ago he had donated a blood sample to the nascent UK Biobank and told scientists they were free to poke around in his medical records. And now he's adding more valuable information to this treasure trove of health data - medical images. Before he goes in the scanner a technician runs down a list. No metal implants? Good.

UNIDENTIFIED TECHNICIAN #1: So anything like tattoos or piercings?

FLETCHER: Certainly not.

HARRIS: Fletcher will get a scan of his heart and internal organs to look for buildup in his arteries and fat deposits around his organs as well as a brain MRI.

UNIDENTIFIED TECHNICIAN #1: At the end of our brain scan, if we have time, we actually get you to complete a little functional task, a little game we get you to play. I just need to make sure that you'll be able to see it plainly, so if you could please have a look at the chart on the wall.

FLETCHER: Yes.

UNIDENTIFIED TECHNICIAN #1: Reading...

HARRIS: Fletcher will spend half a day here donating his data to science.

FLETCHER: I'm in the fortunate position that I have very little wrong with me and I've got to 70 years old. And I just thought I should give a bit of public spiritedness really. Nothing more, nothing less, really.

HARRIS: After a change of clothes he's ready to start.

UNIDENTIFIED TECHNICIAN #2: Gonna get you to pop these earplugs in. OK. And then we'll take you through to the scanning room, OK?

FLETCHER: OK.

(SOUNDBITE OF MEDICAL SCANNER SCANNING)

HARRIS: What makes the UK Biobank valuable is not only the 1/2 million volunteers whose health will be followed for decades, but its community spirited scientific strategy. Chief scientist Cathie Sudlow says, in a break from their usual ways, the organizers aren't out to answer their own scientific questions, but to serve their colleagues.

CATHIE SUDLOW: I'll freely admit when I first started out in Biobank I couldn't really believe that we were all going to work really hard to make data available for other people. And that was because I came from this traditional kind of slightly paranoid, somewhat territorial academic background.

HARRIS: That's the reality of the scramble for research funds. Between 2006 and 2010 the Biobank organizers hit the pavement to recruit middle aged volunteers. Their medical data are stripped of personal information and put into a database that scientists with a legitimate request can download and study. Principal Investigator Rory Collins says it started off slowly.

RORY COLLINS: The thing that really changed the landscape from the point of view of use was when the funders decided to provide us with the funding to genotype all 1/2 million of the participants.

HARRIS: A genotype is essentially a snapshot of a person's genetic variants. With that, scientists can look at people with specific traits or medical conditions and search for a matching genetic pattern. Dr. Sudlow says one of the most significant discoveries so far is a new understanding of type 1 diabetes. It used to be called juvenile diabetes, a misnomer.

SUDLOW: Type 1 diabetes is far more common and relevant in middle age than had been previously appreciated. It's always been thought to be a disease of younger life onset.

HARRIS: When scientists around the world realized that they could use the Biobank to do this kind of research without even drawing a blood sample, Dr. Collins says interest took off.

COLLINS: And so far 10,000 researchers from around the world have registered with the resource and we've now gone past a thousand different research projects that are ongoing.

HARRIS: New research papers appear in the scientific literature almost daily. And though the subjects themselves are primarily Brits, researchers from around the world are welcome to probe the data. Collins says the idea is to democratize research so scientists in relatively neglected fields still have a shot at doing world class research.

COLLINS: Also people who are working in countries where perhaps they don't have the resources.

HARRIS: In Queensland, Australia Peter Visscher has plenty of resources and a lab teeming with scientists interested in exploring human genetics. They have downloaded data repeatedly from the UK Biobank. In one project they found a genetic signature that illuminates why people tend to select mates of similar height and educational attainment.

PETER VISSCHER: I thought it was quite cool because the theory of that's been known for more than 100 years, but we've never been able to demonstrate that because we've never had this kind of data.

HARRIS: Visscher uses other genetic repositories for his studies, including a big one managed by the U.S. National Institutes of Health. The downside is it has less detailed information about people who donated that DNA.

VISSCHER: And that's what's so special about the UK Biobank, that all individuals have been measured for all traits essentially.

HARRIS: Visscher does what's called genome wide association studies which are a bit controversial. Chief Scientist Cathie Sudlow acknowledges it's often not clear how to make use of the correlations that come from this kind of analysis.

SUDLOW: So I would say the jury is out, but Biobank's open to this major possibility to actually interrogate these kind of questions at scale.

HARRIS: And in the process this has expanded imaginations about what else this collection can yield. The U.S. pharmaceutical company Regeneron offered to sequence the genes of all 1/2 million participants. Company scientists get an exclusive first look at the data, but it will soon be made available to everyone who has access to the Biobank. And the richer the collection becomes, the more valuable it is and the greater the incentive to make it even richer. Chief Scientist Cathie Sudlow says it's satisfying even though she's not pursuing her own research ideas.

SUDLOW: It's made me realize how fun it is to do stuff that actually makes things happen. That's a really legitimate and interesting thing to do.

HARRIS: She expects collaboration, rather than traditional competition, will be what really drives medical science forward.

Richard Harris, NPR News.