Global alliance to boost data-sharing in genetic research

Leading international healthcare, research, funding, and technology organisations will work together in a non-profit alliance to enable large-scale sharing of genetic data.

The 73 bodies - which include Cancer Research UK, the National Institute of Health Research and the Wellcome Trust - have jointly authored a white paper outlining their plans for the alliance. The scheme promises to 'dramatically accelerate medical progress' while preserving the privacy of people who have donated genetic or medical information.

A rapid fall in the cost of genome sequencing has led to a flood of data on human genetics. But, the white paper explains, the full potential of this wealth of information will not be realised unless data is shared, not simply kept by those who have collected it.

'What has really changed over the past few years is sequencing technology', confirmed Professor Mike Stratton from the Wellcome Trust Sanger Institute, speaking to The Guardian. 'We can now sequence a million times as much DNA for the same cost as we could ten years ago. But what we're finding is we need to share our data to maximise the knowledge we gain'.

Most disease areas stand to benefit, the scientists say. Cancer, for example, is so genetically complex, Dr Francis Collins, director of the National Institutes of Health, USA, told the New York Times, that in order to understand the significance of a mutation in a patient, data from hundreds of thousands of patients with that mutation are required.

This means that a single centre often has too little experience with a certain mutation to understand its impact. Professor John Burn, chair of the British Society for Genetic Medicine, told The Guardian how his group at Newcastle University 'recently intercepted a young woman who was about to have a mastectomy because of a genetic mutation which we've now shown isn't a problem'. Because of the current lack of data-sharing, other groups might not have been aware of such information.

Rare disease research may also stand to benefit from pooled data. Dr David Altshuler, chief academic officer at the Broad Institute in the USA, told the New York Times that for diseases which occur in only one in 100,000 babies, most hospitals will see 'zero or one' case, so 'no one ever learns'.

The white paper also calls for input from information technology organisations. One million whole genomes comprise roughly 100 petabytes of data - one petabyte equalling one million gigabytes - so considerable storage capability is required.

Such a volume of data is large but not unheard of, says the paper; YouTube has over 1,000 petabytes of video, and this is rising. The authors also remark that the Internet and social media could play a part in achieving interaction between researchers and participants, especially in the area of consent.

And respecting the privacy and informed consent of participants will be a significant challenge for the alliance. As, too, will be a factor touched in a report in Nature. Individual researchers 'are often reluctant to share hard-won information', the journal noted.