Hugh Kaul Precision Medicine Institute
By Laura Freeman
A Healthcare Revolution
In less than two centuries, medical science has accomplished miracles--vaccines, anesthesia, antibiotics and now even heart and face transplants. It has saved millions.
The difficulty arises when what has worked for millions doesn't work for the one person sitting in front of you.
Until recently, the tools of science have been geared toward large statistical samples, bell curves and average responses of cohorts in clinical trials. Unfortunately, there is no such thing as an average patient.
Every person comes with a unique family and medical history, environmental and lifestyle risk factors, and an array of DNA variations so vast that unless you are a twin, there is probably not another person on earth with the same combination.
When the diagnosis or treatment that fits most people doesn't fit you, the odyssey to find the right answer can be frustrating for both the patient and the physician.
Fortunately, the new tools of medical science are changing the focus from the average to the individual, making finding answers easier. The era of precision medicine is dawning.
"Precision medicine is a whole new way of doing health care. It seeks out the root molecular causes of diseases and tailors individual treatments optimized to fit the patient's unique data." Matt Might, PhD, director of UAB's Hugh Kaul Precision Medicine Institute, said.
"We start with tools like genomics and informatics to build a comprehensive view of the individual's unique genetics, history, and environmental and lifestyle risk factors. Once we identify the genes and molecular processes involved, we use pharmacogenomics to look for existing drugs active against similar targets that we might be able to repurpose to help patients now while any clues gathered from what we've learned can be directed toward new drug development.
"Ultimately this approach will contribute to virtually every area of healthcare, from rare and undiagnosed diseases to cancer, cardiology and orthopedics to common chronic conditions."
The institute has been active in proof of concept testing using genetic profiling of unresponsive tumors to detect which treatments might be most effective and to identify existing drugs that might be repurposed. In cardiology, researchers are verifying the effectiveness of genetic predictors of blood thinner response in cardiac catheterization. The institute is also helping patients with undiagnosed diseases look for answers.
A similar personal odyssey led Might from his work as a professor of computer science to teaching at Harvard Medicial School and being recruited by President Obama as a White House strategist for the Precision Medicine Initiative.
Might's son was born with an unknown neurological condition that experts failed to identify. Might used his knowledge of computing, social media and search engine optimization to look for someone who might be able to find the genetic basis of his son's illness. Finally, a very rare HGLY1 deficiency was detected, but with that answer came another question. There were no known treatments. Might again used his computer and data analysis training to identify two over the counter drugs that show activity in helping to relieve symptoms.
"When I was recruited to lead the institute last year, I saw a tremendous depth of expertise at UAB and the great potential opportunities of being able to call on the genetic computing power of HudsonAlpha Institute of Biotechnology in Huntsville and the drug development and testing capabilities of Southern Research Institute," Might said.
Another area where the institute's precision medicine efforts are already showing results is in psychiatric diseases, particularly depression.
"Depression has such a tremendous impact on so many lives. Finding the most effective medication to relieve symptoms can be especially challenging. All too often, it can be a long process of trying one medication after another to find the one that works for that patient. But with precision medicine tools, we can identify predictors of what type of drug is likely to be most effective," Might said.
The institute is working with all heath care specialties at UAB to begin applying the principals of precision medicine in all areas of care. Physicians in training are also learning the techniques used in precision medicine to provide personalized care.
"Five years from now, I'd like to see precision medicine becoming the standard of care throughout UAB Medicine," Might said. "We hope to continue building our expertise and capabilities to make the institute a world-class leader in this new way of doing medicine."