When "Walt" was a young man, he was active, energetic and worked in the military as a medical officer. Through a 30-year military career, he remained physically fit into his 40s, to the point that he could scale the obstacle course faster than the young Marines he was tasked to treat.
Yet, when he later retired from both the military and civilian industry, he had a surprise waiting: seven bypasses at the age of 68. The blockages were discovered after a series of chest pains convinced Walt to go the doctor. A heart attack, he was told, was pending.
And why was he having heart problems with such an active lifestyle?
"It's in your genes," the doctor told him.
Now into his 80s, Walt has dodged that bullet, but only by routine checkups and no small amount of luck. Would learning about it sooner have helped?
POINT OF CRISIS
Perhaps with Walt, it might have helped prepare for treatment before it reached the point of crisis. With Walt's son "Dan," however, it could prevent the blockages from ever occurring in the first place, said Dr. Stephen Prescott, president of the Oklahoma Medical Research Foundation, or OMRF, a nonprofit biomedical research institute located in Oklahoma City. Perhaps, even more important, Prescott said, testing could determine early on what medicines will work well and which ones won't.
Welcome to the future of medicine.
"It's often called personalized medicine or individualized medicine," Prescott said. "By determining our genetic makeup, we can make very accurate predictions about the risk of certain diseases. Things like our diet, exercise and things we encounter in our environment are also relevant, but we will make good predictions about the relative risk of different problems we will encounter in our lifetimes. Then, once we have a problem, make predictions about what the best treatment is. That's because many of the responses to medications are controlled by our genetic makeup."
Both "Walt" and "Dan" are real " just their names have been changed to protect their medical privacy. Their situation is also very real, as it is for millions worldwide. Since mapping the human genome finished in 2003, scientists, including those at OMRF, have been exploring ways to use that information to better treat inherited conditions and diseases. Prescott said that "typing" people according to their genetic code is one of the ways doctors can begin using DNA to guide treatment.
Unlike developing new DNA-based drugs, which might take years of trials and millions of dollars, testing a given person's DNA for burgeoning conditions is already here in some forms, Prescott said, such as testing for a predisposition to colon or breast cancer, or for such rare diseases as Huntington's, the degenerative neurological disorder that stalked Woody Guthrie. The quest now is going beyond such testing to determining how to use already existing drugs better.
"People who have so-called allergic reactions, or unexpected side effects to medications, those are nearly always controlled by part of our genetic makeup," Prescott said. "One of the exciting ideas is that if we identify enough of those problems, we could say, if you have asthma, 'Well, here's a drug to treat that. Whoops, your DNA tells us that you are likely to have a side effect. Let's pick option No. 2, where you won't have a side effect.' That makes the medication work better "¦ it's safer and less likely to create additional problems."
The key, Prescott said, is better diagnosis early on. For instance, in the case of Dan, testing for the actual presence of the genetic predisposition to heart disease could tell what treatments Dan might need. If, say, Dan didn't have the gene for high cholesterol, then he might not need to spend thousands of dollars in heart medications and just get by with healthy eating and exercise. But if the gene is present, Prescott said, he could take the drugs suited for him early on, and the damage would never happen.
"Really accurate diagnosis is a big deal in medicine. People focus on treatment, but good diagnosis makes treatment better," he said.
So, are these new genetic tests here yet? Some are, Prescott said.
"There are scores of diseases for which we now have very accurate DNA tests for what is going on. They are birth defects or problems that run in families that are rare," he said. "What we don't have yet is such tests for common adult diseases " diabetes, or even lupus."
But stay tuned, Prescott said, those breakthroughs are coming. In the case of lupus, OMRF's researchers and others are discovering a host of genes that contribute to the condition, and soon may allow not only accurate diagnosis, but also even more accurate treatment.
"Our scientists have discovered a whole variety of genes that can be abnormal and increase risk. And it's not just one, but genes that are interacting with one another," Prescott said." "Ben Fenwick