Pharmacogenomics, or the study of how genetics affect a patient’s response to medications, is an area of research made possible over the past decade by a better understanding of the human genome. Translating that knowledge from research labs to the clinic has been a challenge, though.
In a 2009 survey, 98 percent of physicians said they believed that patients’ genetic profiles could influence their response to medications, but only 13 percent had actually ordered a genetic test to screen for a patient’s compatibility with drug treatments.
To bridge this gap, a group of researchers at the University of Chicago Medicine is conducting an ongoing clinical study, known as The 1200 Patients Project, that creates a database of how patients with particular genetic profiles react to specific drugs, and then puts that information online for physicians in the clinic to use and compare against. The study is supported by the University’s Center for Personalized Therapeutics.Patients and their physicians jointly agree to participate in the project. A patient agrees to submit a DNA sample; his or her results (after the DNA is analyzed for genetic markers that can predict response to common medications) are released to his or her physician.
The project began recruiting patients in January of 2011, and now the first wave of results is being released through an online system for the first patient-physician pairs. Physicians can consider using the results to assist with every day decisions about prescriptions. Doctors using the system can access results any time from a web-based interface called the genomic prescribing system, or GPS.
Peter H. O’Donnell, MD, assistant professor of medicine and the principal investigator on The 1200 Patients Project, said the system hopes to help physicians because it gets the difficult, time-consuming work of genetic testing and interpreting the data out of the way.
“The real power of the system is its instantaneous access. If a patient needs a prescription for something, they don’t want to wait for the results of a genetic test. We’ve already done it,” he said.Matthew Sorrentino, MD, a cardiologist and professor of medicine, is the first physician using the genomic prescribing system in his practice. He said he has used it with eight or nine patients so far, and already sees the potential for helping find medications that work better for a specific patient based on their genetic profile.
“I was very intrigued about having more information available that could better individualize treatment for patients,” he said. “Having the information has already taught me a lot about how variable patients’ responses to medications can be.”
The genomic prescribing system includes a clinical summary that provides context for how the genetic information should be used, helping speed up the learning curve for using pharmacogenomic data in practice.
For example, if a patient isn’t responding well to a particular blood pressure medication, a physician could consult the system for genetic makers that explain why, and find an alternative that better matches their genetic profile.
“We’re not just giving a genetic result to the physician,” O’Donnell said. “We also provide an interpretation, something that the doctor can read in 30 seconds or less in a busy clinic that tells them what the genetic information actually means.”
The first iteration of the system has information on drugs that cardiologists and primary care physicians commonly prescribe. Over time it will expand to include drugs for liver disease, cancer and other specialties. The study currently includes only patients from the University of Chicago, but O’Donnell said he hopes to expand it to other partner institutions someday.
“We were pretty excited when this went live. We’ve been waiting for this day for a year and a half, so that was a big deal when we turned on the system for the first time,” he said. “I think using genetic data like this is the way medicine is moving.”
O’Donnell PH, Bush A, Spitz J, Danahey K, Saner D, Das S, Cox NJ, & Ratain MJ (2012). The 1200 patients project: creating a new medical model system for clinical implementation of pharmacogenomics. Clinical pharmacology and therapeutics, 92 (4), 446-9 PMID: 22929923