Cutting-edge science
By Edward Weinman
Dr. Kurt Hales knew his risks.
The OB/GYN who specializes in maternal fetal medicine has a family history that portends to a dreary future of cardiovascular problems and Type-2 diabetes. But instead of waiting for disease to strike in the not-so-distant future, Dr. Hales was determined to take control of his health.
How did Dr. Hales take control? The soft-spoken doctor turned to genetics. Specifically, deCODEme, a genetic test offered by deCODE, a biopharmaceutical company applying its discoveries in human genetics to develop diagnostics and drugs for common diseases.
Most patients might flinch at the notion of taking a DNA test that scans their genome for the inherent risk of developing 36 diseases, including Type-2 diabetes, heart attacks, stroke and bladder cancer. But Dr. Hales has been working with genetics for many years.
“I’ve been involved with genetic testing for Down syndrome babies” so I understand the power of genetics, Dr. Hales says. “With my family history, I thought it’d be a good idea to get more knowledge about myself.”
Getting more knowledge about one’s health by peering into the looking glass with a genetic test can be scary. What if the results indicate a high risk for prostate cancer or heart disease?
Dr. Hales has seen these fears arise in his own patients. He’s seen his patients’ anxiety over finding out whether a child might be born with Down syndrome or cystic fibrosis. But it’s different when doctor becomes patient.
“It’s a different perspective when I’m doing genetic testing in my field. But I was a patient in this instance,” Dr. Hales says, remembering his momentary apprehension over taking the test. “In some ways it’s frightening. What if I had been told I had a high risk for Alzheimer’s? Maybe I’d be worried about it. But to me knowledge is power. If I can intervene to make my life better I thought it was a good idea.”
And the intervention has begun. As he had anticipated, Dr. Hales’ deCODEme test revealed that he was at high risk for developing Type-2 diabetes, which is also a contributing factor for heart attack and stroke. So Dr. Hales took medication to reduce his glucose levels and normalize his hemoglobin levels, along with a regiment of exercise and proper diet.
But does having a gene that increases your inherent risk of developing a disease like Type-2 diabetes really warrant taking preventative medication? Does the deCODEme genetic test in and of itself act as a diagnostic tool?
The short answer is no. The genetic test is like one piece of a puzzle, but alongside other diagnostic tests deCODEme can help to draw up a more accurate overall picture of Dr. Hales’ health.
“I had other tests that showed I had metabolic syndrome (a combination of disorders that increases the risk of cardiovascular disease and diabetes). My glucose was high. My hemoglobin levels were high. Plus, I had my family history of diabetes. So the genetic test confirmed what the other diagnostic tests said. The genetics were backing that up. It was a double whammy. The deCODEme test wasn’t taken in isolation.”
While the deCODEme genetic test is proving to be a valuable tool in preventive medicine, Dr. Hales cautions that the test should not be taken unless a patient has an understanding of what the results mean.
“You have to understand it going in. When I’m conducting genetic testing in my field I have to warn about false positive results and the implications of where a patient and myself go if tests reveal a baby is at high risk of developing Down syndrome. You have to warn them in advance,” Dr. Hales notes.
He cautions: “If deCODEme is used frequently there would have to be more counseling and information to go with it.”
Counseling to help patients understand what their test results mean for their future health is exactly what deCODEme does. Upon learning one’s results, a patient has the opportunity to seek out a deCODE counselor who helps explain results. deCODE stresses the fact that a genetic test is not a silver bullet. It should be a means to get patient and doctor together so that they can discuss and develop an individualized preventive health care plan.
At the same time, the value of the deCODEme genetic test cannot be overstated. Dr. Hales reveals that he wished he could have taken a test like this when he was 25, acknowledging that it would’ve been helpful to know then what he knows now.
“I can understand how some patients might be apprehensive,” he says, especially in the US where 99 percent of health care is devoted to treating a disease once it’s started, trying to undo damage. He understands that it might be difficult for a healthy, 25-year-old to take a test and think that when they’re 40 they might be at high risk of developing diabetes.
“That can be hard. This is cutting-edge stuff. I’ve never been afraid of using cutting edge stuff on myself,” because as Dr. Hales repeats: “Knowledge is power.”
