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NHGRI Commits $5.1M to eMERGE Sequencing, Genotyping, Coordinating Centers

NEW YORK (GenomeWeb) – The National Human Genome Research Institute will award up to $5.1 million next year to fund two or three centers that will coordinate and house the genotyping and sequencing services for its Electronic Medical Records and Genomics Network (eMERGE).

NHGRI is preparing to launch the third phase of the eMERGE program, which aims to develop new methods and best practices for integrating genomics research projects, biorepositories, and EMRs and help genomic medicine advance to the clinic. The agency recently said it will award $9.9 million to fund clinical research centers.

Now, under the most recent grants, NHGRI will provide $4 million for either one or two genome sequencing and genotyping facilities, and $1.1 million for a coordinating center that will provide centralized support and infrastructure for the program.

Now in phase II, eMERGE has around 329,000 participants with biorepository samples that are linked to EMRs, 106,000 of which have been genotyped. In phase III, DNA samples will undergo targeted gene sequencing at a sequencing and genotyping center (CSG), although the sequencing method may change in the future as technologies advance, NHGRI said.

The CSG will produce high-quality sequencing and genotyping with a four to six week turnaround time; will collaborate with other eMERGE sites to annotate and identify variants in disease-related genes; and will generate and use sequencing and genotyping data to assess the penetrance of genetic variants and to standardize genomic data to return clinically relevant genetic results directly to patients. The center will have capabilities for CLIA validation, to submit data that can be integrated in EMRs, and to share data broadly beyond the eMERGE program.

The coordinating center will collaborate with eMERGE study investigators, CSGs, and NHGRI to conduct genomic discovery and clinical implementation research.

The center will coordinate and facilitate a range of activities, including efforts to identify genetic variants that play functional roles in health and disease; estimate the penetrance of those variants; develop methods to identify patients with important pharmacogenetic variants; integrate genomic findings into EMRs; develop portals and other tools to help educate patients and help them manage their healthcare; and improve analytical methods for using genome sequencing and existing genotyping data to study phenotype heterogeneity in populations with different demographics, among other activities.

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