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Big data project could transform health research

Aims to standardise handling of genetic and clinical data

Big data project could transform health research

A new international initiative that aims to standardise the way genetic and clinical data are gathered, interpreted and shared officially got underway yesterday.

The alliance of more than 60 healthcare, research and disease advocacy organisations from 41 countries intends to make use of the enormous amounts of data generated as a result of plummeting gene sequencing costs that - at the moment - is not being exploited in an organised way.

"Many groups around the world have recognised the need for improved approaches to bring together genomic and clinical data, and some have made progress addressing this," commented Professor Mike Stratton, director of the Wellcome Trust Sanger Institute – one of the partners in the initiative.

"But … we recognised that something was missing: an international body that spans diseases and institutions, committed to furthering progress in an innovative and responsible fashion," he added.

The overall objective will be to reveal the pathological mechanisms underlying diseases and the responses to drug therapy, and to help interpret individual genetic profiles by comparing them to a database of sequence and clinical data, says a white paper published by the alliance members.

"It is generally not possible to predict which changes in DNA sequence lead to clinical consequences," said Dr Tom Hudson, chairman of the International Cancer Genome Consortium.

"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," he added.

The scheme grew out of a meeting of health researchers held earlier this year, which came to the consensus that a common framework of international standards to allow genomic and clinical data to be shared whilst protecting patient autonomy and privacy.

The partners will work together on the development of interoperable standards for managing and sharing sequence data in clinical samples and core principles on privacy and ethics, while also encouraging responsible and voluntary sharing of data and methods.

The standards will cover elements such as secure data storage and access control, patient consent, data processing tools, common methods for data analysis and IT architecture to support the development of apps. The framework will be modelled on the World Wide Web Consortium (W3C), which sets online protocols and data standards.

The announcement comes as there is increasing interest in the concept of harnessing the exploding amount of data created in our increasingly digitised and connected world, with a McKinsey report suggesting earlier this year that the US healthcare system could save $300bn to $450bn every year if it used big data to drive efficiency and quality.

6th June 2013

From: Research, Healthcare



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