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Health Organizations Form Genetics Data Standards Alliance

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Some 70 health care organizations worldwide are forming an alliance to develop common standards for collecting and sharing genetic data. The organizations — representing health care providers, government agencies, academic and research institutes, foundations, and advocacy groups — seeks to create a common interoperable framework, with associated regulatory and practical guidelines, for the interchange of data related to human genomics.

The Wellcome Trust Sanger Institute in the U.K. has so far organized the effort to create an international not-for-profit organization, modeled on the World Wide Web Consortium, to develop the common framework. The 71 groups signed a letter of intent to create and support this organization. While the as yet unnamed organization plans to include life science and information technology enterprises, no companies from these sectors have so far signed the letter of intent.

The need for this framework and organization, says the Wellcome Trust, results from the sharp drop in cost of sequencing human genomes, and the associated large increase in the number of people making their personal genetic and clinical data available for research and further clinical use. While the need for a common framework and more sharing of these data are widely recognized, efforts to collect and share genomic data have been confined to individual diseases, institutions, or countries, which are limiting the expansion of knowledge and its potential benefits to improvements in health care.

In January 2013, 50 representives of health care organizations in eight countries met in New York to discuss these challenges and agreed that a key missing ingredient was a common framework of standards to make possible and govern the sharing of genomic and clinical data. A subsequent white paper from the meeting led to the letter of intent to form the new body, signed by 71 organizations mainly from North America and Europe, but also Australia, Japan, China, and South Africa.

Among the problems being created with the current independent and fragmented systems, according to the white paper,  are the lack of large samples needed to discover underlying pattens and relationships in genomic data. Because of the large difference in disease targets and low frequencies of genomic sequencing variations, millions of samples are often needed to provide reliable results.

Yet despite the obvious advantages in standardization, says the white paper, the world’s scientific and medical communities seem to be moving in an opposite direction, with more incumbent and private systems being established. The paper pointed specifically to the current state of fragmented and incompatible electronic health records in the U.S. as a potential outcome for genomic data if current trends continue.

Among the signers of the letter of intent is National Institutes of Health, along with the National Cancer Institute and National Human Genome Research Institute, which are part of NIH. Francis Collins, director of NIH told the New York Times that the institutes “are strong supporters of this global alliance,” adding, “We need standard formats so we don’t have to spend two years figuring out how to merge data together.”

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