Collaboration is a beautiful thing

I like to think I’m a pretty funny guy. (I also like to think I’m handsome, but let’s stay in the realm of possibilities.)

Back in college, I wrote a column with a friend named Mat DeKinder — basically a funny take on the news of the day. Mat’s a funny guy, too, so I thought our little endeavor might take off. I had no idea. Mat made my writing 10 times funnier and I didn’t completely ruin his jokes, either.

At the Oklahoma Medical Research Foundation, collaboration is key. In the cafeteria at lunch time, it’s not uncommon to see Drs. Phil Silverman and Bob Barstead chatting. Our scientists see each other, talk with each other and share ideas with each other. It’s an environment that fosters innovation.

One recent breakthrough came from Dr. Robert Floyd, the Merrick Foundation Chair in Aging Research at OMRF, while working with Dr. Richard Kopke of the Oklahoma City-based Hough Ear Institute. Both were working on separate treatments for acute acoustic trauma — when extremely loud sounds damage and kill sensitive hair cells in the inner ear. It’s a problem affecting many Americans, including the U.S. military.

Dr. Floyd told me the compound he was using was somewhat effective and he talked with Dr. Kopke, who had another compound, that was also somewhat effective. Well, in the spirit of peanut butter and chocolate, they decided to see what a combination therapy would do. The results? In current tests, the compound is applied within 4 hours of the noise damage and almost completely reduces hearing loss.

“Hearinng loss costs the U.S. Department of Defense about $1 billion a year,” Kopke said. More damaging, though, are the costs on the quality of living for those suffering acute acoustic trauma.

Floyd said the pre-clinical results are good and that human testing is just around the corner. That’s good news for soldiers, civilians and science — and it all came together because of scientists who see the value in working together.

The Promise of Personalized Medicine

It took 13 years for the U.S. government to pass the Genetic Information Nondiscrimination Act, or GINA.

While scientists worked feverishly, and still do, to unlock the secrets of the human genetic code, our lawmakers debated and argued and stood stock still on one issue standing in the way of bringing science to the people.  

The thing is — your genetic information might not hold good news. And there was no guarantee that, if you got a DNA test to get ahead of the problem, your insurance company wouldn’t classify any genetic abnormality as a “pre-existing condition.” In other words, you were going to get sick regardless, so they don’t have to pay for the treatment.

Kind of makes the idea of insurance useless, right? I mean, I don’t want to get sick, but I have medical insurance because I probably will at some point. But what’s the use of insurance if it won’t pay when you do get sick?

That’s where GINA comes in. It says that health insurers and employers cannot discriminate against Americans based on genetic information. The bill had passed the Senate unanimously and the House by a vote of 414 to 1.

Now I know I haven’t been wild about the current practical applications of available online DNA tests, but after talking to OMRF President Stephen Prescott, I know that the near future could hold much more promise. Personalized medicine — in which doctors look at your DNA and not only predict your future illnesses, but find which treatments are proven to work on those with your SNPs — could be here within our lifetimes.

The question I have, of course, is if people will take advantage of that personalized medicine. Let’s not forget how many of our nation’s medical epidemics are spurred on by people who avoid regular medical check ups for personal and financial reasons.

“A black hole, never to be filled.”

As I’ve talked to scientists and doctors about my genome test, I’ve always been struck by the notion that, for all the information contained in the genome, it’s not the end-all-be-all for the future of medicine.

But Dr. John Harley, one of the pre-eminent voices in the lupus genetics field, had a different take. DNA might not hold all the answers about lupus, but it definitely holds answers that can’t be found anywhere else.

“It’s not possible to understand this disease without genetics,” he says. “Without the information provided by the genome, this would be a black hole, never to be filled.”

And that’s what makes DNA so fascinating — it’s a piece of almost every medical puzzle yet to be solved, if not the majority of pieces. Without genetics research, there are a whole of lot of diseases that might never be treated or prevented or even properly diagnosed. 

Consider this fact, as well: Dr. Harley says that it was 1943 when the idea that DNA was more than just a bunch of mucus inside the cell. Think about how far have we come in just 60 years. The future ahead of us is bright with the possibilities of what the next 5, 10 or 50 years will bring.  

Data-Mining My DNA

Learning about your genome is a lot like dream analysis. It’s largely an exercise in tying what you know to what you’re told. And some of it seems downright wrong.

Part of it is because information about DNA is both definitive — you already are who you are — and part of it is subjective — the probability that some of your features are due in part to a SNP (single nucleotide polymophism).

Not to gross you out, but according to 23andMe, I have wet earwax. It is offered as fact on their site, as if someone has been snooping in my ears, but I’m not sure they have it right when they say that my double cytosine genotype on SNP rs17822931 makes my earwax “wet”.

If anything, when I dutifully swab my ears, it seems pretty dry.

A lot of the rest of the information is conditional, just talking about my chances to develop a disease vs. others like me. For instance, it says 10 percent of people with European ancestry and my genotype will have colorectal cancer between the ages of 30 and 89. The average for people with European ancestry, regardless of genotype, is of 8.7 percent.

But do I have colorectal cancer? I hope not. And genotyping isn’t going to tell me if I do or don’t — it just lets me know, based on my genes, how likely I am to develop it between now and my 90th birthday.   

That kind of thing is easy to freak out about. Not to take too determanistic a view, but what can I really do? Eat right. Exercise. Get regular check-ups at the doctor’s office.

You know: The stuff you are supposed to be doing anyway. 

If my genetic test has done anything for me, it’s opened my eyes to my health. At age 29, I’m no teen-ager, but I must have been young at heart, because I just never considered that I could ever get cancer or Alzheimer’s Disease or multiple sclerosis.

The test freaked me out at first, but as I’ve gone along, I realized that my DNA was going to do what it’s going to do, regardless of me knowing. And all I can really do to protect myself is the same stuff I should have been doing before the test. Thinking about the results spurred me to action. That seems like a good lesson, even if the price was a little expensive.