Monday, April 19, 2010

Stop the Drama and Spit!

Today's guest blogger is Archelle Georgiou, MD.  Her blog, "Archelle on Health" is a fabulous resource for all things health-related.  In this post, she shares with us the importance of genetic testing.

I've been called many names...and, most of the time, I ignore it and let it roll off my back. But last week, I got the ultimate compliment. I was ordained as one of the "Disruptive Women in Healthcare," a blog site that invites anyone, particularly women, to speak up and challenge the health care status quo. Since I got formal permission to be disruptive (as if I really needed to have someone tell me it's okay), I am going to allow myself to be a bit irreverent in this blog entry. I apologize in advance.

The focus of this week's blog is on the health benefits of personal genetic testing -- an emerging area of medicine that intrigues many people when they read about it, but scares them too much to get tested themselves. Yes, the blog last week had a similar theme but was centered on the insight you can gain on your ancestral history. In full disclosure, that blog was just a set up; I used a heart-warming, personal story as a first step to getting your buy-in.

The Human Genome Project was completed in 2003, and since then, companies have been springing up that offer personal genetic testing to consumers. The space is dominated by 3 companies: Pathway Genomics, Navigenics, and 23andMe. For anywhere between $350 and $999, testing kits can be purchased without a doctor's order. Unfortunately, even as the price has come down, very few people choose to get their genetic testing done.


"I don't want find out something I don't want to know." "What if I find out I am higher risk for Lou Gherigs disease?" My personal concern was learning that I might be at higher risk for developing Alzheimers. I was so scared that I stared at the test kit for 3 weeks before I spit into the vial and sent it in. I told my family that the results would come back in 4-6 weeks and the information "had the potential to change our life forever." The drama (which I am pretty good at) was almost worthy of a gold statuette.

But, after going through the entire process, I realize that the worry, the procrastination, and the hand-wringing were wasted energy. The report results were relevant, practical and actionable -- TODAY. And, the benefits of knowing my genetic makeup far outweigh the false sense of security that we allow ourselves to experience when we are simply blind to the facts.

The majority of my fears were probably fueled by the unknown: manufacturers' descriptions of report results are vague; I had never met or spoken to someone who had the testing done. So, the goal in sharing my test results with readers in this blog is to dispel some of the mysteriousness of genetic testing and to demonstrate that this important new technology is an easy, cost-effective way to improve health. And, in my opinion, it is the only tool/technology I have seen that might be able to successfully influence behavior.

So, I have one important key message I hope to get across: Knowledge is Power.

The 77 page report I received online was divided into 3 health-related sections: Drug Response, Carrier Status, and Complex Health Conditions.

Drug Response: I had an atypical response to 2 of 9 drugs/therapeutic classes.

1) I metabolize caffeine at a slow rate due to lower levels of the CYP1A2 gene that makes the liver enzyme responsible for caffeine metabolism.

Practical application: Very interesting. This result likely explains why I had a drug reaction to a Midol that I took for the first, and last, time about 6 months ago. Midol, as well as many other OTC drugs (for example, Excedrin and Anacin) contain caffeine. So, no more caffeine-containing drugs for me, and no purchases of OTC meds without checking the ingredient labels first.

2) I have a reduced response to Tamoxifen, a drug used in prevention and treatment of breast cancer.

Practical application: Fortunately, I don't have breast cancer and am not high risk for this diagnosis. But, if I did, tamoxifen wouldn't work particularly well in me. Here's what's scary: genetic testing for the CYP2D6 gene is not routinely done before women are put on tamoxifen. So, there is a population of breast cancer patients who are currently on ineffective therapy...and don't know it. Hello?

Carrier Status: The panel includes testing for 37 carrier states -- conditions that can be carried silently in a family for generations, only to be discovered when two carriers have a child with the condition. I am a carrier for hemochromatosis, a liver storage disease.

Practical application: The only carrier state I ever worried about and got tested for when I was pregnant was thalassemia (Mediterranean anemia). But hemochromatosis? News to me! I am completely healthy since there is only one copy of the gene present. Since my reproductive life is over (hallelujah!), there is nothing more for me to do. However, each of our daughters has a 50% chance of having the trait and pre-natal testing for this condition will be critical.

Complex Health Conditions: The panel looks for SNPs, short genetic sequences, that are associated with risk for developing 24 different complex conditions. I have no increased genetic risk for any of them. Just for clarification, these results mean I have average risk, not zero risk.

Practical application: I clearly won the genetic gamble and got a healthy deck by my parents. (Thanks mom and dad!) I found myself making some subtle behavior changes: one less glass of wine, stocking my travel bag with calcium and vitamins so that I don't miss doses when I am traveling -- because I feel even more responsible to maintaining a healthy lifestyle.

If, on the other hand, I was at increased risk for any of the conditions, this information would have helped me focus on the prevention, screening and lifestyle choices that mitigate that risk. Without this focus, being "healthy" means complying with a long list of sacrifices:

Eat healthy

Exercise daily

Wear sunscreen

Consume no more than 1-2 alcoholic drinks per day

Avoid red meat

Sleep 7-9 hours per night

Get 15 minutes of sunlight a day

Eat a low cholesterol diet

And on and on.....

Frankly, I can't live in a sterile, sinless bubble. You probably can't either. It's understandable that so many people hopelessly throw in the towel and do nothing. So, for me, the results offer some leeway in those areas where my body might be able to tolerate some extra indulgence.

For those of you who are still uneasy about learning something you don't want to know: Do you avoid having blood tests at your doctor's office because they might diagnose something you don't want to know? Of course not. Why is this different?

For those of you who are nervous about your personal genetic history being on the internet and having your privacy violated: Who really cares about your personal genetic history other than you, your family, and the people that love you? Strangers would much rather know about the details of your bank account.

For those of you who are nervous about your insurance or employer using the information against you: The Genetic Information Nondiscrimination Act (GINA) was signed into law in 2008. It protects Americans against health insurance and employment discrimination based on their genetic information.

So, just do it!

Stop the Drama and Spit!

Create Health,

~ Courtesy "Archelle on Health"

Note: The image in at the top of this blog was provided by Lynn Fellman who creates fine art that is inspired by the science and stories that are revealed by our DNA. More of Lynn's art can be viewed at

For more information, visit Army Well-Being: Health Information.


Army Well-Being said...

Thanks you to Dr. Archelle Georgiou for this post and a blog full of wonderful health information for our Soldiers and their Families!

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