Skip to main content
Premium Trial:

Request an Annual Quote

NHGRI to Invest $9.9M in Clinical Sites for Genomics Studies Using EMRs, Biorepositories

NEW YORK (GenomeWeb) – The National Human Genome Research Institute plans to award $9.9 million for genomic discovery research projects that use data from large biorepositories linked to electronic medical records, as well as genome-wide, genotyping, or sequencing data.

The funding will support eight to 12 projects that will comprise the clinical research network of the third phase of the Electronic Medical Records and Genomics (eMERGE) program, NHGRI said on Wednesday.

The eMERGE initiative was launched in 2007 to develop methods and best practices for conducting genomics research using biorepositories and EMRs, and it has shown how EMR phenotyping may be used in genome-wide studies and has defined methods for enhancing privacy when EMR data is shared.

The project expanded in recent years to include seven study sites and two pediatric sites, and a collaboration was formed between eMERGE and the Pharmacogenomics Research Network to sequence 84 pharmacogenomic genes in 9,000 patients, according to NHGRI.

Currently in its second phase, eMERGE II, the project now has nearly 329,000 participants who have their biorepository samples linked to EMRs, and more than 105,500 of these have been genotyped. Last year, the eMERGE program was selected to survey around 16,000 patients about their attitudes on proposed changes for rules governing broad consent for genomics research.

NHGRI said that it plans to follow up this new round of research grants with funding for a coordinating center and central genome sequencing and genotyping facility that will support the program's third phase. This funding will be open to researchers who worked in eMERGE II and investigators who are new to the program.

Applicants will be expected to share their data with the scientific community at large through resources such as the Database of Genotypes and Phenotypes (dbGaP) and the Clinical Genomics Resource (ClinGen).

NHGRI said it expects that the clinical sites it funds will conduct a comprehensive program of genomic discovery and clinical implementation research.

The Scan

Interfering With Invasive Mussels

The Chicago Tribune reports that researchers are studying whether RNA interference- or CRISPR-based approaches can combat invasive freshwater mussels.

Participation Analysis

A new study finds that women tend to participate less at scientific meetings but that some changes can lead to increased involvement, the Guardian reports.

Right Whales' Decline

A research study plans to use genetic analysis to gain insight into population decline among North American right whales, according to CBC.

Science Papers Tie Rare Mutations to Short Stature, Immunodeficiency; Present Single-Cell Transcriptomics Map

In Science this week: pair of mutations in one gene uncovered in brothers with short stature and immunodeficiency, and more.