Genomics: Advancing Rapidly Toward Individualized Care
Dr. Eugene R. Bleecker, director of the Center for Genomics and Personalized Medicine Research
Personalizing medical treatment based on genetic and environmental factors specific to a patient is a new, young discipline that is evolving rapidly.
“The technology has driven the science,” said Eugene R. Bleecker, MD, director of the Center for Genomics and Personalized Medicine Research. “Suddenly you have the ability to interrogate a person’s entire genome very quickly for associations with disease.”
Severely altered or mutated genes have long been known to carry a high risk for hereditary conditions, such as color blindness, hemophilia, sickle-cell disease or cystic fibrosis. The ability to screen for minor genetic variations—single nucleotide polymorphisms, or SNPs (pronounced “snips”)—enables researchers to account for more subtle risk factors that explain why diseases progress differently and why drugs are more or less effective in different patients.
The School of Medicine established the Center for Human Genomics in June 2000, as part of a $67 million research initiative, and in October 2009, renamed it to reflect its widening scope in personalized medicine.
Most of the Center’s two dozen faculty members have their primary appointments in the Genomics Center while some retain their appointment in a variety of departments (Internal Medicine, Pediatrics, Biochemistry, Cancer Biology or Public Health/Epidemiology). Advances in the science are driving more collaboration with investigators across Wake Forest Baptist. The Center has about a dozen graduate students and half a dozen postdoctoral fellows.
The Center’s offices and labs are located in the Nutrition Research Center, and it conducts clinical studies at the Cloverdale Research Center a short distance from the medical center. Research efforts focus on cardiovascular disease, diabetes and its complications, cancer (mainly prostate cancer) and pulmonary diseases, such as asthma, emphysema and chronic bronchitis, also known as chronic obstructive pulmonary disease or COPD.
Annual extramural funding of $20.8 million from the National Institutes of Health (NIH), other government sponsors and industry sources support almost 50 research grants. For example, the Center is part of an NIH network investigating respiratory diseases. A current study published in the New EnglandJournal of Medicine (Peters 2010) has shown that a drug (Tiotropium) approved for use by COPD sufferers may help patients with poorly controlled asthma. There are millions of SNPs in the human genome. Researchers conducting genome-wide association studies are identifying genetic markers for specific diseases such as prostate cancer, type 2 diabetes and asthma. A study in the diabetes group at the Center has discovered genes that confer risk of renal disease in African Americans who develop diabetes. Such knowledge has far-reaching implications for treatment.
“Genomic research has the potential to yield more accurate dosing of existing drugs, new drugs better targeted to individual ailments and ultimately preventive health care based on better understanding of an individual’s risk for certain diseases,” Bleecker said. “With the new genetic techniques, we’re at the cusp of being able to do this quite well. These approaches will be ready for prime time very soon.”