“I’ve got something called a ‘Factor 2’ genetic mutation,” my cousin said, “and I think you ought to get yourself tested.”

This, on the heels of telling me he was convalescing from a massive pulmonary embolism.

The news was a lot to absorb. This was my first cousin, who happens to be exactly my age. The main difference between us is his much healthier lifestyle: daily workouts at the gym, a careful eye on his diet.

He’d been having chest pains and shortness of breath. And not just during a workout. He described waking in the middle of the night, going downstairs for a snack, and being completely out of breath after climbing a flight of stairs to the bedroom.

At first, his doctors suspected cardiac trouble, but when his heart checked out, they turned their attention to his lungs. That’s when they discovered the big clot.

“They told me to go to the emergency room immediately,” he said, “but I had some pressing work back at the office. I figured, I hadn’t dropped dead yet. Waiting a few more hours wasn’t going to kill me.”

Luckily, he was right. They started him on blood-thinners, and so far — knock on wood — the treatment is going well. Chalk one up for modern medicine.

But in an even more modern twist, they went looking for a genetic cause. Why, his pulmonologist wondered, would an otherwise healthy young man develop such a big, bad clot?

A genetic test revealed the Factor 2 mutation, which is linked to an increased risk of dangerous blood clotting.

Once he learned he had the mutation, he asked his mother to get tested. Turns out she has it, too. His brother, on the other hand, doesn’t have it.

This wasn’t the first news of a pulmonary embolism in the family. A few years ago, my father suffered a very serious embolism. About twenty years ago, my mother did, too. But in both cases, there was an obvious primary cause: falling asleep on a long international flight; or being hit by a car while crossing the street.

I was pretty shaken by my cousin’s news. I immediately made an appointment with a pulmonologist. And last week, I was sitting in her office, nervously waiting for the results of the preliminary tests.

“Your heart rate is good,” she said. “Blood pressure: good. The breathing test was good.” She asked me if I had any symptoms like shortness of breath or chest pains.

“Of course I have shortness of breath,” I said. “Digging a trench a couple of weeks ago, I was really huffing and puffing.”

She gave me an ironic look. “I mean, when you’re not exercising strenuously.”

“I don’t know,” I said. “Maybe.”

“What about chest pains?”

“Not really,” I said. “I’m just worried with all the family history…”

We discussed the merits of the genetic test. Yes, there was a study that linked the Factor 2 mutation to a greatly increased risk of dangerous clots. On the other hand, it was only one study, and the science was very new.

We zeroed in on the important question: what would I do differently if I found out I had the mutation?

The answer: not very much. Aside from the obvious things like avoiding smoking, obesity, long sedentary flights and being hit by cars, there weren’t too many known ways to prevent a pulmonary embolism. If I were to need surgery, a doctor might do a few different things to prevent clotting if he knew I had the mutation. On the other hand, just knowing I had a deep family history of embolisms would probably make him treat me differently anyway.

It would be another story if I were, say, a young woman. Birth control pills increase the risk of blood clots, so it would be very important to know if I had a genetic predisposition that increased the risk even further.

But for a relatively healthy old geezer like me, it was hard to see the advantages of getting the test.

Much easier, in fact, to see the disadvantages. Like, for instance, releasing my genetic information into a world that hardly knows what to do with it, much less protect it.

It was only in 2008, with the enactment of the federal Genetic Information Nondiscrimination Act,  that it became illegal for corporations to abuse their employees’ genetic information. This protection was deepened and extended, by the way, by this year’s much reviled health care reform law.

There’s nothing a health insurance company would like to know more than whether a potential customer is likely to develop a dangerous – and expensive – medical condition.

My pulmonologist reassured me that my concern wasn’t unusual, which was a sure sign she was tiring of all my pesky questions about health risk management and genetic privacy. “Come back if you get sick. Then we’ll be able to help you.”

Sensible advice. Until then, my plan is to stay far, far away.

This column was published in the Perry Co Times on 18 November 2010

For more information, please contact Mr. Olshan at writing@matthewolshan.com