Researchers have called on the government to intervene to resolve a dispute that is preventing them from fully exploiting the world’s largest store of human genetic data. The scientists say they are unable to access patients’ data, which is held by Britons GPsdespite a decade of requests, and that the refusal hinders the development of new diagnoses and treatments.
Prof Naomi Allen, chief scientist of UK Biobank, told the Observer it has sequenced the genomes of more than 500,000 volunteers and collected a wealth of other data about them. However, it was still prevented from accessing their primary healthcare data held by their GPs.
“We’ve been trying to get our hands on primary care data for a decade now and we’ve gotten nowhere,” Allen said. “This is deeply frustrating and shows the government needs to step in to take responsibility so that busy GPs don’t have to.
“That data will transform our ability to discover the causes of so many diseases and help researchers develop new treatments. Having access to primary care data from GPs will ultimately help the whole world in terms of treating disease.”
However, the BMA – which represents the views and rights of doctors – said in 2023 that it was not yet ready to work with UK Biobank. There were concerns about GPs’ workload and their role as legal controllers of the data. A year later, GPs have not changed their position.
In November the Observer reported that the health information database was shared by Biobank with insurance companies, despite a promise that it would not be. The data was provided to insurance consulting and technology companies for projects to create digital tools that help insurers predict a person’s risk of developing a chronic disease.
Allen said at the time that “careful processes” had always been followed: “De-identified health data was shared because these are bona fide researchers working on health-related research, including looking at what affects human health and longevity – and that’s what we enroll participants in have to help with.”
UK Biobank, funded by the Wellcome Trust and the Medical Research Council, was set up to create a massive DNA database of British people, information that could unravel the causes of disease and identify treatments. Half a million volunteers aged between 40 and 69 provided blood from which their entire genomes were sequenced. Over the past two decades, their brains and bodies have been imaged by MRI scanners, worn monitors to determine activity levels and participated in cognitive questionnaires.
This anonymous information has been shared with thousands of researchers internationally, helping them to predict diseases before standard symptoms appear.
An example is provided by Parkinson’s disease. Researchers, using UK Biobank data, have established a link between activity levels in individuals who develop the condition several years later, making it possible to identify those who will get the condition many years earlier than is possible today . “There are drugs on the market now that can help the early symptoms of Parkinson’s, so there are benefits for patients,” Allen said. “In addition, researchers have found a pattern of proteins that can predict the development of dementia up to 10 years in advance, and there are now at least two drugs approved by the FDA to treat early onset Alzheimer’s disease and early cognitive decline. “
Among the myriad files of information about volunteers used to make these breakthroughs are hospital records. However, their GP records cannot be accessed, although these patients have given express written consent for their use by scientists. This data provides indications of the very earliest appearance of a symptom of a condition. “The fact that we can’t get our hands on that data is our number one bugbear,” Allen said.
However, Dr Katie Bramall-Stainer, chair of the BMA GP Committee, England, said GPs take their responsibilities as controllers of patient data seriously. “If a GP were to pass on data that is not adequately protected… the GP will be held responsible, regardless of whether the patient has consented. We are still exploring with UK Biobank what assurances they can offer to instil absolute confidence from individual practices. The BMA will not oppose a centralized national solution.”
Today, the average age of a UK Biobank volunteer is around 70. Of these, 15,000 have developed breast cancer; 15,000 have prostate cancer; 10,000 have colorectal cancer and 30,000 have dementia. In total, about 10% of all volunteers died.
“We now have a relatively narrow window of opportunity to gather as much information as we can from these remaining individuals to find out what causes disease in middle and old age,” Allen added. “This is a key priority and getting access to all their health data is going to be essential. That’s why we want to get access to GPs’ data.”