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NHGRI to Fund Resource of Clinically Relevant Variants

NEW YORK (GenomeWeb News) – The National Human Genome Research Institute is planning to fund the creation of a single resource that would house and disseminate data about potentially clinically relevant genetic variants that are being unearthed by genomics research projects.

NHGRI intends to award up to $14 million over four years to one institution that will identify and distribute consensus information about these variants to other researchers and interested parties. The funding will provide $2 million in fiscal year 2013, and up to $4 million per year between fiscal years 2014 and 2016, according to an announcement from the institute.

This Clinically Relevant Variants Resource, or CRVR, will be tasked with identifying genetic variants with implications for clinical care, incorporating these variants and their supporting evidence into a resource to support development of practice guidelines by professional and clinical organizations, and coordinating and building upon existing programs at research and clinical organizations that are identifying such variants to cut down on duplicative projects.

"Dozens of medical centers and research programs nationwide are beginning to explore the use of such variants in clinical care, and many are developing approaches for identifying variants to be assayed and the actions to be recommended when they are detected. In many cases, there is significant overlap in the evaluation of these assays, the review of the literature, and the assessment of the underlying evidence," NHGRI said in the request for applications.

"A unified approach to harness and coordinate these often isolated, individual efforts and disseminate their findings would reduce duplication of effort and speed adoption of actionable genetic findings for use in clinical care," the institute stated.

Such a resource would allow for important and relevant information to be reviewed and curated by experts, and for their findings to be passed on to professional organizations that are developing guidelines that research and clinical institutions could incorporate into their research and patient care activities.

According to NHGRI, the CRVR will conduct a number of activities, such as surveying clinical and research groups for information, integrating data from a range of sources and evaluating them for clinical relevance, developing a framework for assessing clinically relevant variants, and creating a user-friendly database of variants and their supporting evidence, among others.

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