Genetic Rant & Roll – The Miniseries: Final

Lin asked me to give an impression on genetic testing. These are just impressions. I am not educated enough to have an opinion. Can I be totally full of canal water? Absolutely.

Let me preface this with all the stuff Lin emphasized. The testing we did was technically not ‘for’ me. I am too far gone to be in their target population. It was really not supposed to give me any solid info. In my case, it was an exercise. That said…

For me at this point in my disease, the testing was minimally helpful. I discovered a possible reason for why my disease started early and is progressing fast: I seem to be a prime candidate for AMD from the genetic standpoint. 97th percentile rank seems pretty prime to me!

I discovered management strategies such as vitamins and antioxidants would not have made a big difference. Maybe took away some of the guilt of having a big, bowl of popcorn for dinner as opposed to a healthy salad all those times! (You would probably cringe if you really knew how many times that happened.) [No, =I= wouldn’t having lived with you for years in college. ::smile::]

Those two discoveries brought on a feeling of hopelessness. I was doomed by crappy genes and none of the potential management strategies would do a dang thing for me. I ranted and raved. Got a little pissed. Fight, flight or freeze? I fight.

Fighting for me generally involves gathering information. Some of us grew up on Scholastic Rock (remember Lolly, Lolly, Lolly get your adverbs here? Ooops, digressing again) and we know that knowledge is power. I looked for what was going wrong.

What I found was a whole bunch of stuff that had to do with mutations in lipoprotein formation and the alternative complementary immune system. Chewed on THAT for awhile, let me tell you.

My understanding – and this can be TOTALLY out in left field – was that my garbage collection and disposal system is not working too well and my defenses have faulty targeting systems. Lots of friendly fire taking out good cells.

And here, my dears, is where I see the value of genetic testing. In the next few years they will be coming out with dozens of targeted treatments for many diseases. Already, a friend’s sister-in-law did not have to have chemo for her breast cancer because it would not have helped according to the genotype of her tumor. The woman got targeted treatment and was spared going through chemo because of genetic testing.

If lampalizumab proves to be as hot as it looks like it is going to be, AMD’s time will have come for targeted treatment. And that means the time for genetic testing for AMD would have arrived as well.

Why, you ask? (I am sure I heard some curious soul voice the question ?) Because there is one genotype that responds beautifully to lampalizumab. It will save money in treatment ( and remember, for most of us, this is America, the land of the almighty $$$$$$) if you only give lampalizumab to the people who will respond.

So my impressions on genetic testing for AMD? Great idea but too early in the game. The FDA does not consider supplements to be drugs and will not pay for testing to “pick one”. (Remember $$$$$). Later this year when they launch lampalizumab and maybe a few other treatments? Whole different story. Genetic testing is going to rock and roll.

And that is how I see it. Other impressions?

Next: coming soon!

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