In the 13 years since the publication of the rough draft of the human genetic code, scientists have run thousands of genome-wide association studies to find links between DNA and disease. The work has delivered some insights, but also shown the method has limitations. Now, a new approach could avoid these flaws.
The new method uses electronic medical records (EMRs) to reverse the genome-wide association model. In genome-wide studies, researchers search for common mutations in the DNA of people with the same condition, like diabetes or Alzheimer's disease. The new approach, called a phenome-wide association study, flips this model. Scientists start with a gene mutation and then scour EMRs for possible links between the variant and disease.
A test of the model published in Nature Biotechnology by researchers from the Vanderbilt University Medical Center and other academic institutions has excited geneticists. "It's a phenomenal proof of concept. Warts and all, we can use [EMRs] to do science," Harvard Medical School geneticist Robert Green told The New York Times. Researchers validated the model by replicating results from genome-wide studies, and then used it to identify 63 new links between genes and diseases like skin cancer and anemia.
|Joshua Denny, Vanderbilt researcher|
The validation of the EMR model gives drug developers a new tool. Identification of the genetic causes of disease could give developers new, potentially-druggable targets to pursue. The Vanderbilt team also want to spot potential drug side effects using the model, and identify new uses for existing compounds. "If you have a drug that targets a certain gene, you can understand what range of diseases you can use that drug to treat," Vanderbilt biomedical informatics researcher Joshua Denny said.