A dozen awards from the National Institutes of Health will support research that incorporates DNA sequence information into electronic medical records. The goal of research conducted by the Electronic Medical Records and Genomics (eMERGE) network is to better understand the genomic basis of disease and to tailor medical care to individual patients based on their genomic differences.


Rongling Li, MD, PhD, NHGRI. Photo by Maggie Bartlett.

The grants, administered by the National Human Genome Research Institute (NHGRI), represent the third phase of the eMERGE program, and focus on moving genomics research closer to clinical application by identifying the potential medical effects of rare genomic variants (inherited differences in the DNA code) in about 100 clinically relevant genes. The activity of such genes can affect a person’s health, and might affect treatment choices.

“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. “The other important component of these grants is implementing what researchers learn about these gene variants into medical settings to improve patient care.”

Researchers will look at the best ways to provide DNA test results to physicians and patients, she said, and ways in which doctors might use this information to improve clinical treatment and practice. The funded researchers will also examine the psychological and economic effects on patients and families, and the effects on healthcare systems, in using this information. The following research groups have been awarded grants (pending available funds).

Brigham and Women’s Hospital, Boston
PIs: Scott Weiss, MD; Elizabeth Karlson, MD; Shawn Murphy, MD, PhD; Jordan Smoller, MD, ScD
4 years; $3,832,097
Scientists will determine whether rare and common variants found in the protein-coding regions of 25,000 individuals’ genomes are associated with 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 such information might be used by patients and physicians.

Children’s Hospital of Philadelphia
PI: Hakon Hakonarson, MD, PhD
4 years; $3,625,184
Investigators will seek to further understand the genetic causes of autism, intellectual disability, attention deficit hyperactivity disorder, epilepsy, and obesity. 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. They will evaluate the effect of this information on patient care, including how it might impact testing and treatment decisions, as well as its potential financial, ethical, and social implications.

Cincinnati Children’s Hospital Medical Center
PI: John Harley, MD, PhD
4 years; $3,421,156
Researchers plan to evaluate the role of 100 genes in the genomes of 2,500 patients who agree to receive their test results. Investigators will use this genomic information to help identify the causes of many diseases listed in patient electronic health records, and along with genome-wide testing, explore the roles of variants in a number of medical conditions and disorders. In addition, their wide-ranging studies include evaluating the cost-effectiveness of genetic testing, characterizing the genetics of pain, and exploring what genetic test results adolescents want to receive.

Columbia University
PIs: Chunhua Weng, PhD; George Hripcsak, MD; Ali Gharavi, MD
4 years; $3,436,628
Researchers studying a large multi-ethnic population in Northern Manhattan will use genomic information from DNA sequencing and electronic health records to find and study genes and genetic variants that contribute to an increased risk for chronic kidney disease, heart failure, breast cancer, liver disease, autoimmune disease, stroke, birth defects, and neurodevelopmental disorders. They hope this research will make disease definitions more precise, help identify patients who need further genomic study and testing, and better predict their disease risks. Investigators will also work with patients, families, and physicians to develop ways to discuss such risks and treatment decisions.

Geisinger Health System, Danville, Penn
PIs: Marc Williams, MD; Marylyn Ritchie, PhD
4 years; $3,517,676
The research team will combine DNA sequence information and health information in thousands of patients’ electronic medical records to study two disorders: familial hypercholesterolemia and chronic rhinosinusitis. Investigators will examine and test approaches to discussing familial hypercholesterolemia genomic sequencing results with patients and families, and also how family members communicate with one another. They will study the impact of the environment on chronic rhinosinusitis.

Group Health Research Institute, University of Washington
PIs: Eric Larson, MD, MPH; Gail Jarvik, MD, PhD
4 years; $3,385,338
The researchers plan to study preventable diseases and conditions, including inherited forms of colorectal cancer, high triglycerides, and high neutrophil count. High triglycerides may affect heart health, while a high neutrophil count can signal a disorder involving the immune system. They will use DNA sequencing to examine the genetic makeup of 2,500 individuals and combine this information with electronic medical records. They will study the effects of sharing such information with patients and families.

Mayo Clinic, Rochester, Minn
PIs: Iftikhar Kullo, MD; Stephen Thibodeau, PhD
4 years; $3,435,970
This research team plans to focus on understanding the underlying genetics of two common genetic disorders: familial hypercholesterolemia and familial colorectal cancer. Investigators will examine the DNA sequences of 100 disease-relevant genes in 3,000 participants with moderate-to-severe hypercholesterolemia or colon polyps. They will determine which genomic variants are most likely to contribute to these disorders, and which should be discussed with patients, families and physicians. They will also examine the economic implications and behavioral and psychosocial consequences of providing such information.

Northwestern University
PIs: Rex Chisholm, PhD; Maureen Smith, MS
4 years; $3,306,716
Investigators plan to determine associations between rare variants in at least 100 sequenced genes in 2,500 patients and those more common variants that eMERGE network researchers have collected from previous studies. They will return the information that could be medically useful to physicians and patients to see what its use and impact could be on individual patient care. The researchers will study the best ways to provide these results to doctors, patients, and families, and examine opportunities to discuss related ethical, legal and social implications of such information.

Vanderbilt University School of Medicine
PIs: Dan Roden, MD; Joshua Denny, MD
4 years; $3,353,476
Researchers will study 100 genes in the genomes of 2,500 subjects at Vanderbilt to identify rare variants associated with human health and drug responses. They also plan to expand a Vanderbilt program, PREDICT, which aims to identify genomic information to predict and help prevent bad drug side effects, and build a pipeline to provide details about variants to doctors and patients.

Vanderbilt University School of Medicine
PI: Paul Harris, PhD
4 years; $4,206,370
The eMERGE III coordinating center will provide a range of logistical support to the network investigators, including the necessary bioinformatics tools and data-sharing, and organize and maintain working groups and committees. The coordinating center will also work with the central genome sequencing and genotyping facilities to provide quality control for DNA sequencing data, manage the network phenotyping and genotype/sequencing datasets for genomic discovery, manage the network website, and facilitate collaborations outside the network.

The eMERGE III network will employ two central sequencing and genotyping facilities. They will carry out and coordinate all of the network’s DNA sequencing and genotyping activities. Genotyping is the read-out of an individual’s genetic makeup. Among other things, investigators will interpret the potential roles of genetic variants in the eMERGE III studies, and their effects on gene function. These groups have received funding:

Brigham and Women’s Hospital, Boston
PIs: Heidi Rehm, PhD; Birgit Funke, PhD; Stacey Gabriel, PhD
4 years; $8,492,617

Baylor College of Medicine
PI: Richard Gibbs, PhD
4 years; $8,392,000


NHGRI is one of the 27 institutes and centers at the National Institutes of Health. The NHGRI extramural research program supports grants for research and training and career development at sites nationwide. For additional information, visit NHGRI.