International biomedical research data sharing standards to be created

The framework is to be established by a new 'global alliance' body, formed by more than 60 organisations involved in "health care, research and disease advocacy", in a bid to capitalise on the increasing amount of data gathered from biomedical research.

Research body the Wellcome Trust Sanger Institute said that opportunities to advance medical science are being missed because data gleaned from research is not widely available to all groups that could re-use it. Data is currently gathered in "isolation", whether as a result of national borders, differing industry needs or other barriers, it said.

The new global alliance will therefore seek to form "a common framework of international standards designed to enable and oversee the sharing of genomic and clinical data in an effective, responsible, and interpretable manner", it said.

The Sanger Institute said that whilst efforts will be made to improve the "interoperability" of systems in order to enable "new research based on shared data", it said the new framework would also seek to protect individuals' "autonomy and privacy".

"In order to develop technology standards and maximise interoperability, the global alliance will work with platform development partners and the broader community to create and then to manage interoperable technology platforms with open standards," according to a white paper (34-page / 276KB PDF) produced by the Sanger Institute. "The uses and users of platforms will be many and varied, but to ensure interoperability, shared standards must be rapidly established, widely used and effectively managed."

Sanger said that cloud computing providers could help provide the platforms for data sharing and access. The organisation said that companies involved in the data sharing network should, if possible, have the ability to store, process, analyse and/or control the sharing of information and manage data access in line with "local informed consent and data use provisions", and meet a range of other criteria too.

Sanger said that work within the global alliance would be undertaken to ensure different global laws on privacy are adhered to under the framework, and that access to data is monitored and restricted under the scheme.

"At present, it is generally not possible to predict which changes in [a] DNA sequence lead to clinical consequences," Dr Tom Hudson, chairman of the executive committee of the International Cancer Genome Consortium, and president of the Ontario Institute for Cancer Research in Canada, said in a statement. "Only by comparing each personal genome sequence to a large repository of other such data can robust patterns and relationships can be identified."

"The stakes are high, because if we get it right we can create new opportunities to define diagnostic categories, streamline clinical trials, and match patients to therapy. We want to make sure this is done in a global manner, and with the highest standards for ethics and privacy," he said.

The new Global Alliance is to operate in similar terms to the World Wide Web Consortium (W3C), which is responsible for ensuring that web technology is based on an agreed set of technical standards, the Sanger Institute said

"In principle it should be possible to dramatically accelerate medical progress by learning from the world's data on genome sequences and clinical phenotypes: illuminating the biological basis of cancer, infectious diseases, inherited diseases and drug response," the Sanger Institute said. "By aggregating and analysing large amounts of genomic and clinical data, it should be possible to discover patterns that would otherwise remain obscure - for example, which mutations within a tumour predict treatment response, or which genetic variants explain rare childhood diseases."

"Clinical interpretation of individual genome sequences will be powerfully enabled by comparison to extensive data on variation in genome sequences and phenotype. At present, it is generally not possible to predict which changes in DNA sequence lead to clinical consequences. When held against a large repository of other such data, however, robust patterns and relationships can be identified," it said.

The UK Government has previously set out plans to make it easier for anonymised data gathered by health bodies to be centralised and sold to researchers, subject to patients' consent.