By Lori Solomon, Editor, Diagnostic Testing & Emerging Technologies
The National Institutes of Health announced awards for $48 million in the third round of funding for the eMERGE program. The Electronic Medical Records and Genomics (eMERGE) project’s primary goal is to develop, disseminate, and apply approaches to research that combine DNA biorepositories with electronic medical record (EMR) systems for large-scale, high-throughput genetic research. This latest phase focuses on bringing genomics research towards clinical application by identifying the potential medical effects of rare genomic variants found in about 100 clinically relevant genes in 25,000 individuals.
“The newly funded projects are focused on discovering genes and gene variants with clinical implications by using the latest sequencing technologies to examine rare and common variants suspected to relate to disease risk and treatment effects,” said Rongling Li, M.D., Ph.D., program director for eMERGE in the National Human Genome Research Institute’s Division of Genomic Medicine. “The other important component of these grants is implementing what researchers learn about these gene variants into medical settings to improve patient care.”
Vanderbilt University (Nashville, Tenn.) was awarded $4.2 million over four years to serve as the coordinating center for this phase. Coordinating functions include managing the network phenotyping and genotype/sequencing datasets, quality control for DNA sequencing data, and logistical support for the other network sites.
The eMERGE III network will rely upon two central sequencing and genotyping facilities—Brigham and Women’s Hospital (Boston) and Baylor College of Medicine (Houston), each receiving approximately $8.4 million for the four years.
The remaining nine awards, each for approximately $3.3 million over four years (pending available funds), will each examine specific genetic variants, as well as practical considerations associated with utilizing genomic information including sharing information with patients and families and the consequences of receiving genetic data.
- Group Health Research Institute/University of Washington, Seattle will study preventable diseases and conditions, including inherited forms of colorectal cancer, high triglycerides, and high neutrophil count in 2,500 patients and combine this information with electronic medical records.
- Brigham and Women’s Hospital will assess links between rare and common variants found in the protein-coding regions of 25,000 individuals’ genomes and cardiovascular, neuropsychiatric and immune-mediated conditions described in electronic medical records. They will also screen 25,000 individuals for disease-causing variants in the LDLR gene, the leading genetic cause of premature coronary artery disease, and examine how patients and physicians use this information.
- Vanderbilt University School of Medicine will study 100 genes in the genomes of 2,500 subjects to identify rare variants associated with human health and drug responses through expansion of the university’s PREDICT program.
- Cincinnati Children’s Hospital Medical Center (Ohio) will, in addition to assessing the roles of variants in a number of medical conditions, evaluate the cost-effectiveness of genetic testing, characterize the genetics of pain, and explore what genetic test results adolescents want to receive.
- Mayo Clinic in Rochester, Minn. will focus on the genetics of 100 disease-relevant variants for familial hypercholesterolemia and familial colorectal cancer in 3,000 participants. The economic, behavioral, and psychosocial consequences of receiving this information will also be assessed.
- Geisinger Health System (Danville, Penn.) will study two disorders—familial hypercholesterolemia and chronic rhinosinusitis—and evaluate how family members communicate this information with one another.
- Columbia University (New York) will study genomic information in a large multi-ethnic population to help identify patients who need further genomic testing and better predict their disease risks.
- Children’s Hospital of Philadelphia (Pennsylvania) will analyze tissue samples in a large biorepository to characterize rare variants in 2,500 children with autism, intellectual disability, attention deficit hyperactivity disorder, epilepsy, or obesity. The effects of returning results to families will be studied.
- Northwestern University (Chicago) will return results of rare variants to assess what could be medically useful to physicians and patients, to see what its use and impact could be on individual patient care.