The use of genetic and genomic information to predict, prevent and treat disease – generally referred to as personalized medicine – is receiving much interest from the public and scientists alike. The enthusiasm stems from the potential for personalized medicine to transform the practice of medicine by increasing the understanding of disease mechanisms and permitting safer and more effective patient care.
Realizing that potential, however, won’t come without challenges, the first being the collection and organization of electronic healthcare data. UAB’s Department of Pathology has taken the first step to making the potential a reality by creating a Division of Informatics within the department to build the artificial intelligence that will drive the use of personalized medicine in the future.
Jonas S. Almeida, PhD, UAB Professor of Bioinformatics and Director of the Division of Informatics, will lead the effort to provide data and expertise to support clinical research. His extensive experience in bioinformatics, most recently with cancer research at M.D. Anderson Cancer Center in Houston, will enable UAB to pioneer the effort that ultimately will reduce costs in many areas of medicine and increase patient compliance with therapy. “Eventually, we hope to reduce the total cost of care and improve quality of life,” Almeida says.
“The Division of Informatics is a unique partnership between information science and medicine,” says Kevin Roth, MD, PhD, Chair of Pathology at UAB, one of the first academic institutions to undertake this initiative. “It goes beyond pathology to all other areas of medicine, but is housed in the Department of Pathology so we can bridge the information we have here with all medical fields.”
While some may wonder why informatics resides in the Department of Pathology, Roth points out that pathologists have been handling large data sets since the beginning of medicine. “We oversee the clinical laboratories and tissue biopsies are diagnosed and stored in our department,” he says. “We felt that in making a bridge between engineers, computer scientists and health care professionals, pathology is ideally positioned to lead this effort.”
Roth adds that personalized medicine is not just about a person’s genetic sequence. It includes many environmental influences, behaviors, and medical history. “All that goes into the snapshot that makes us what we are today,” he says. “Informatics will put us in a better position to utilize patient specific information to treat individual patients more effectively. We are investing millions of dollars in this venture to create a structure for future pathologists to follow.”
Almeida believes that starting at the patient sample level in pathology is the right way to go. “Sydney Brenner anticipated the need to individualize the analysis when he said we had translational research backward in ‘from bench to bedside.’ It should indeed be from bedside to bench, because each patient is molecularly distinct,” he says. “We have some of the best drugs to treat the body’s molecular machinery, but even with the same disease, molecular machinery differs significantly with each person. Informatics will someday enable us to evaluate individual patients in great depth, allowing health care professionals to optimize treatment strategies to patient specific genetic and biological factors.”
The combination of biological and genetic information will tell scientists how a person will react to a particular drug, Almeida adds, which will make drug therapy more efficient.
One international study illustrates how such information can benefit patients’ treatment. A research group reported late last year that they had uncovered genetic loci that may be useful for improving the accuracy of prostate cancer screening. Researchers used genome-wide association and replication studies on more than 16,000 men from Iceland and the United Kingdom to find half a dozen loci on five chromosomes that correspond to prostate-specific antigen (PSA) levels. As a result, they believe they will be able to personalize PSA thresholds, which could change the recommendation on whether to biopsy for a substantial proportion of men.
“In combination with information about age, ethnicity, and family history of the disease, estimates of the effect of genetic variation on prostate cancer risk and PSA levels could lay a foundation for the development of individual prostate cancer screening strategies that would have the ultimate goal of reducing cost and improving quality of life,” the researchers concluded.
Because such a large amount of information is required for personalized care, scientists must have a system and machinery to track it. While this information gathering and analysis can lead to more efficient health care, there will be sociological issues that must be addressed. Questions about privacy have risen, but Roth believes the issue will be manageable as people realize the potential benefits.
“The perspective of what is private and what can be shared is already changing in our society,” Roth says. “There will come a time when access to personal health and genetic information will directly benefit individual patients as we design personalized therapies, but the patient will continue to control information access.”
Almeida sees exciting things down the road as health and informational sciences become more intertwined for the purpose of improved medical care. He applauds the UAB community for being one of the first to “take the bull by the horns” to further this initiative, which is already being integrated into academic programs at the medical school and fellowship levels.
“We aren’t far away from low-cost genetic sequencing for everyone, so we want to be able to analyze that information to enhance personalized medical care,” Almeida says. “This initiative is one of the most exciting things going on at UAB and in the field of pathology, and I am thrilled to know that we will help shape the future of patient care.”