Customizing Medicine From a Simple Cheek Swab

It looks like something out of the TV show CSI, but the scientists in ProMedica laboratories aren’t trying to solve crimes. They are processing patient DNA samples to see which medications will work best for them. It’s called pharmacogenomics.

“We call it personalized medicine,” says Kristen Martin, ProMedica Laboratories. “We’re trying to figure out what drugs might be best suited for a person based on their genetic makeup.”

“We are looking at the way people’s genes vary and those variations cause differences in the drug metabolizing enzymes,” adds Tim Stegall, director of pharmacogenomics. “They can be slower, not work at all, or occasionally they can work faster.”

That metabolism determines if the medication will work for you. It’s a simple test for patients – just a cheek swab – but the information technicians can obtain from those samples is revolutionizing patient care because doctors can prescribe drugs they know will work for each specific patient.

“The biggest benefit for patients is they’re stabilized faster. You can actually pick drugs that will work,” says Stegall. “With trial and error you may go through three, four, five medications before you find one that stabilizes patients. And some of these don’t function well without medications.”

This kind of genetic testing has been done for years to treat HIV and Hepatitis C, but those tests look at specific gene-drug pairings. This test is much more comprehensive.

Stegall says, “The genes we’re looking at metabolize between 70-90% of all the drugs we prescribe. So they’re very broad spectrum.”

So far, psychiatry patients have been among the biggest beneficiaries of pharmacogenomics. In the past, doctors used their best guess about which medications would work. But because it can take two to three months to see results, patients often get discouraged and just stop taking them.

Ahmed Janjua, MD, a psychiatrist with ProMedica Physicians says that cost is also a benefit of genetic testing. “Think about how much it would cost a person to end up in the hospital. So the wrong antibiotic, antidepressant can have adverse outcomes,” he explains. If you can save that, it’s thousands of dollars. Outpatient is cheap; inpatient, even a week is $50,000 and they understand that.”

Pharmacogenomics is a relatively new science, started in 2006, but ProMedica scientists are excited about the work they’re doing today and the possibilities for the future.

“We would love to have it be more preventative so it’s done ahead of time before the patient ever needs to be put on any medication because so many medications have negative side effects,” says Martin. “Why be on it if you can find out from the start it’s not going to work for you?”

“I really feel pharmacogenomics is the first big bang we’re going to get from the human genome project,” says Stegall. “It doesn’t get more cutting edge than this.”