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Twelve research groups have received funding from the National Institutes of Health to leverage the use of electronic health in unlocking the mysteries of genomic disease. The anticipated outcome: individualized medical care to patients.
The four-year awards, provided by NIH’s National Human Genome Research Institute (NHGRI), will help support the third phase of the Electronic Medical Records and Genomics (eMERGE) network. This phase of eMERGE is focused on moving genomics research closer to clinical application by identifying the potential medical effects of rare genomic variants in about 100 clinically relevant genes, according to NHGRI.
“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, MD, PhD, program director for eMERGE in the Division of Genomic Medicine at NHGRI, in a statement.
The key concept is to use EHRs to incorporate DNA sequencing data, so that researchers can determine the optimal ways to provide genomic test results to patients and doctors. Another goal is for doctors to better tailor clinical treatments to patients, based on their genetic information.
“These funded researchers will also examine the psychological and economic effects on patients and families, and the effects on healthcare systems, in using this information,” according to the statement from NIH.
Pennsylvania-based Geisinger Health System, which received a $3.5 million grant, will draw from patient health and DNA sequencing information in EHRs to study familial hypercholesterolemia and how the environment may impact chronic rhinosinusitis.
Another grant recipient, Mayo Clinic in Rochester, Minnesota, plans to study inherited cholesterol and familial colorectal cancer, using its $3.4 million award to find out which variants might lead to these conditions by conducting genomic sequencing analyses of 100 disease-relevant genes in 3,000 participants.
Seeking out the genetic causes of childhood disorders such as autism, obesity, epilepsy, and attention deficit hyperactivity disorder is how Children’s Hospital of Philadelphia plans to leverage its $3.6 million award. “Using DNA sequencing information compiled from tissue samples in a large biorepository, they will characterize rare variants in 2,500 children with one of these disorders or conditions, and return this information to about 160 patients and their families,” according to the statement from NIH.
Two teams from Brigham and Women’s Hospital in Boston have received grants to assist in this research effort. One of the teams was awarded $8.4 million to carry out eMERGE-wide activities, heading one of two central sequencing and genotyping facilities for the eMERGE network.
The other team was awarded $3.8 million to study a potential link between cardiovascular, neuropsychiatric, and immune-mediated conditions and common and rare variants found in the protein-coding regions of the genomes of 25,000 patients.
Other grantees include:
• Group Health Research Institute/University of Washington, Seattle, $3.4 million;
• Vanderbilt University School of Medicine, Nashville, $3.3 million (principal investigators: Dan Roden, MD, and Joshua Denny, MD);
• Vanderbilt University School of Medicine, $4.2 million (principal investigator: Paul Harris, PhD);
• Cincinnati Children’s Hospital Medical Center, $3.4 million;
• Columbia University, New York City, $3.4 million; and
• Northwestern University, Chicago, $3.3 million