The McDonnell Genome Institute at Washington University School of Medicine in St. Louis is entering a new era of genomic medicine, expanding its capacities beyond genome sequencing and adding a new and vital focus on understanding how genetics influences health and disease.
Jeffrey Milbrandt, MD, PhD, recently appointed executive director of the McDonnell Genome Institute, says the Genome Institute will continue its leading work in genome sequencing, and it will add new capacities to connect the wealth of data it generates to the specifics of patient care.
The McDonnell Genome Institute is one of a handful of large sequencing centers in the United States that has played a leading role in the genomic revolution in medical science. In the 1990s, at the dawn of the genomic era, the Genome Institute played a key role in the Human Genome Project, funded by the National Institutes of Health (NIH), contributing 25 percent of the sequence data.
Washington University researchers at the McDonnell Genome Institute were also the first to conduct large-scale genome sequencing studies of cancers, in an effort to identify the mutations that underlie tumors. This work has led to changes and improvements in the way many cancers are treated.
According to Milbrandt, the time is ripe for genome science to expand from sequencing genomes to a new focus on understanding the functional aspects of the genetic code. Scientists and doctors want to be able to specify which DNA variations are most meaningful to health and disease and then find ways to act on that knowledge to improve patient well-being.
“As more and more genomes have been sequenced, we have learned that all of us have thousands of genetic variants, but most of them are inconsequential or of unknown significance. Identifying which ones of those are important for disease is the essential question,” said Milbrandt, also the James S. McDonnell Professor and head of the Department of Genetics. “The role that I think the Genome Institute will play over the next decade will be to devise rapid and efficient ways to separate the genomic wheat from the chaff, so to speak. We want to identify those DNA variations that are crucial to the disease process, so we can develop better treatments.
“With that in mind, I see the McDonnell Genome Institute serving as a hub for precision medicine at Washington University,” Milbrandt added. “This will be a major transformation, from the current concentration on ‘reading’ the genome to one focused on interpreting genome variation associated with disease, followed closely by the era of ‘writing’ the genome, where we alter the genome to prevent or treat disease. We will continue large-scale sequencing activities, but we also want to understand how changes in the genome contribute to disease so that we can use that knowledge to development new treatments.”