A series of nearly 20 papers published online in 2014 highlights research on the use of DNA biorepositories and electronic medical records (EMRs) to better understand the underlying genomics of disease. Many of the studies point to new associations of genetic variants with a number of conditions and disorders, such as obesity and asthma. The papers, which appear in the journal Frontiers in Genetics, were co-authored by members of the Electronic Medical Records and Genomics (eMERGE) Network. eMERGE is supported by the National Human Genome Research Institute (NHGRI), part of the National Institutes of Health (NIH).
The major goal of eMERGE is to better understand disease risk and susceptibility and, ultimately, improve patient care. eMERGE researchers hope to reach this goal by combining a patient's data and disease characteristics with his or her genomic information collected from stored tissue specimens in biorepositories.
"These studies are based on data from across the eMERGE Network," said Marylyn Ritchie, Ph.D., director of the Center for Systems Genomics at Pennsylvania State University in University Park and one of three co-editors who organized the series. "Many are focused on understanding some aspect of the genetic architecture of different traits, conditions and diseases. They examine the genome in many different ways, and include large patient data sets and diverse ancestries."
Some of the papers explore research methods or offer reviews of previously published research in specific areas of study, while others report new findings. One review addresses how research results are returned to physicians and patients in the eMERGE Network. Another examines ways that the genetic makeup of individuals from different populations and ancestries across the network can be harnessed in large genomic discovery studies.
Several studies aimed to show the usefulness of electronic medical records in genomic research studies to understand gene-disease associations. A large number of samples in eMERGE tissue repositories have been genotyped - that is, the individual's genetic make-up has been determined. With that information in hand, researchers performed genome-wide association studies (GWAS) to test hundreds of thousands of genetic variants across the genomes in people with or without a particular disease or condition to determine potential associations between genetic variants and disease. Some scientists also carried out phenome-wide association studies, or PheWAS, which examined potential links between a particular genetic variant and many disorders and conditions. A phenome is an individual's complete set of physical traits.
Dr. Hakonarson heads one of two eMERGE pediatric sites. Along with CHOP, there is a joint program at CCHMC and Boston Children's Hospital. The pediatric group wants to use the EMR databases and biorepositories to conduct studies aimed at uncovering variants that contribute to childhood disorders such as asthma, autism, attention deficit hyperactivity disorder, obesity and more. Ultimately, investigators would like to be able to use this information to improve risk assessment and treatment for these and other disorders.
"eMERGE will continue to be a centerpiece for where genomic science should go," said Dan Roden, M.D., assistant vice chancellor for personalized medicine at the Vanderbilt University School of Medicine in Nashville. "If we are going to implement genomic medicine broadly, we have to be able to effectively couple genetics with electronic medical records."
Posted: February 23, 2015