Friday, December 18, 2009

Genetic testing and me.

Today I agreed to have my blood drawn for genetic testing for Hypertrophic Cardiomyopathy (HCM). I have really struggled with this decision. The way insurance companies are these days, I worry that something will be used against me in a way I can’t even imagine and I find myself suddenly without coverage. That would be devastating financially.

I am pre-approved by my insurance to have the testing and thanks to a broken lead earlier this year, my deductible has been met so there is no money out of my pocket. Logically, I know everything should be fine, but all those stories of people who thought they were covered being retroactively denied coverage really worry me. I know that the Genetic Information Non-discrimination Act (GINA) has passed and I know its intent to protect people from losing insurance coverage despite any information that genetic testing uncovers. But for ever law there seems to be a loophole and putting my faith in the government and regulations to protect me seems like a lost cause these days.

On the other hand, I understand this is a tricky disease and it seems to me that for all we know, there is a lot that we just don’t know yet. I believe that it is through genetic studies that HCM will come closer to being fully understood. The information I provide with my DNA may not help me directly, but it might help my children to understand their risks and will eventually help doctors solve the some of the mysteries of this heart disease. In the end, this is what motivates me and I agree to get the test. So I today headed back over to Stanford Cardiovascular unit to submit my blood for testing.

This is an easy thing on my part, give a small vile of blood and sit back and wait for the results. My veins are a little shy these days; they have been poked at a lot over the last three months so we decide to use the prominent vein on my hand. It sometimes hurts a little bit more but getting one stick is better then fishing around in my arm for a vein that doesn’t roll out of the way. A quick sign of a release paper and the blood draw and I am on my way. I won’t get any results until sometime after February next year.

I have talked to three others that have had this test and they tell me the same thing, their tests came back as ‘unknown’ meaning they didn’t have any of the known markers for HCM. I am not even going to pretend that I understand all this but if I have my numbers right, there are 17 known genetic mutations for HCM. Of those known mutations, there have been several studies that have shown some correlation with “prognostic significance”. I take that to mean, some genetic mutations that are known for HCM will map to higher likelihood of SCA and other known outcomes. Today I was told there are seventy other markers that may have some contribution. Some of these may not have been associated with HCM but may have been identified with symptoms like arrhythmias or excessive scaring and so on. So even if they don’t find the know causes for HCM, they may gather enough information to prove other markers that were previously unknown or may be able to say that I am more likely to have certain outcomes.

Or they may never get it all figured out, but so far all it cost me was a drive to the Stanford campus and a little blood.

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