Saturday, September 26, 2009

23andMe
How Helpful are the Health Traits Really???

By Roberta Estes

I've had some questions about the Health Traits and how useful they really are.    And yes, these are true genetic tests, not some kind of "tea leaf" thing:)

Some are what I call "conversation traits".    These are things like baldness, eye color, hair color, freckling and alcohol flush reaction.    Some are just "for fun".    And as for alcohol flush reaction, you can discover if you flush (as in turn red, not the toilet) when you drink alcohol for the price of a beer, but I digress...

However, other types of tests are much, much more important and serious.    The one most sought after is probably the various breast cancer tests.    My sister-in-law had just one test done for the BRCA1 gene at the doctor's office and it cost her over $1800 plus two office visits.    This test is included in this panel.    How can they do that you ask?    Well, if you read the fine print, on the back end, you are asked periodically to opt in and out of various medical studies.    I am participating in the Parkinson's study currently.

Let's talk about Parkinson's disease.    First, if you turn up more at risk than average for something, it doesn't mean you're going to get that disease, it only means that you need to be more cognizant than you might otherwise be.    It's a kind of medical "heads up".    My grandfather "shook", but he never had any other Parkinson's symptoms.    My mother as she aged "shook" as well, and by process of elimination, the doctor decided she had Parkinsons.    Like my grandfather, she never developed any other symptoms.    The Parkinson's drugs they gave her never had any effect except to make her sick, but like so many people of her generation, she refused to tell the doctor because "he wouldn't have prescribed them if he hadn't wanted me to take them".    Bless her heart and God rest her soul, but the woman was stubborn!

My brother and I never believed she had Parkinsons, we believe she had something called Familiar Tremor, also known as Essential Tremor.    There's a big difference.    Parkinson's is a desease that slowly robs one of their ability to physically function and eventually, their mental ability as well.    It is in the end fatal.    Essential temor is irritating and troublesome in terms of spilling things, but is no place near the health issue that Parkinsons is.    When I tested, I do not have an elevated risk for Parkinsons disease which I would have expected if mother and my grandfather both had it.    My brother is shaking a bit already.    Recently 23andMe added the category of Essential Tremor.    When I first logged on and saw this, I was thrilled.    Each "trait" or "status" or "disease" has it's own writeup about it.    I verified that this was indeed the disease I thought it was and do you think I have an increased risk for Essential Tremor?????    Surely you know that I do.    Had we had this type of info available when mother was alive, we could have tested her for $*** and she would never had to live with the devastation of a misdiagnosis and all of those nasty drugs that made her sick for the last several years of her life.    We could have taken this info to her doctors.    Now, my brother and I don't have to worry (as much) about whether or not Parkinson's is in our future.    We just know we'll likely spill our coffee so we can use spill-proof travel mugs.

Let's use one other example.    One of the traits is "Warfarin sensitivity".    Warfarin is the generic name for blood thinner drugs taken by so many people to prevent blood clots.    Genetic markers determine how you metabolize Warfarin.    Regulating Warfarin is tricky indeed requiring weekly blood draws until by trial and error the correct dosage is obtained.    With this new info available, you can provide your doctor with the info about how you metabolize Warfarin, allowing him or her to adjust your dosage more accurately from the beginning, with less trial and error.

Lastly, let's look at Prostate cancer.    One in 6 men develop this disease.    While women can't get it, as they don't have a prostate, they can indeed pass the propensity for prostate cancer to their children.    That doesn't seem fair does it?    Men should be checked regularly, but if you know that you have an increased risk for the disease, you can start earlier and you can be more vigilant in order to catch it earlier, if you do develop the disease.    Prostate cancer caught early is very cureable.

So in a nutshell, the health traits portion is empowering   . It allows you to be more vigilant and more educated about your own body.    It also allows you to do this privately, without your insurance company having knowledge that this type of testing was performed, meaning that you can introduce the results into your medical record only if and when YOU see fit!!!    If your parents can test, it also allows you to "see" where the particular elevation for a particular health trait came from in your family.    This can also be quite important for your children or in situations where adoptions have occurred and nothing about the health of the a person's family is known.

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