Archive for: September, 2010

Women's Health: WTF is in my DNA?

Our own Scicurious, after becoming a bit alarmed over what she was reading in Women's Health, a popular women's magazine, has had the great idea to coordinate a Scientopia-wide Women's Health writeup. This week, it is our quest to address some of the "science" and "medical advice" (both good and bad) provided in the July/August 2010 issue of Women's Health.

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Ever wish you were a fortune teller? The type of person who could gaze knowingly at another's palm, tracing the creases with a gentle pressure, seeing and feeling the future joys and pains spelled out on that person's lifeline?

Yeah, that was me as a child. I was constantly staring at people's hands, declaring that they would have four babies and live until they were 87. Apparently, I dig teh powerz.

And while no one out there can really tell you what the name of your future grandchildren will be, science and technology is at a point where it can provide insight into your future health. The July/August issue of Women's Health asks: What is lurking in your DNA? Should you get a DNA test?

In 1990, the U.S. Department of Energy and the NIH set out on a 13-year mission called the Human Genome Project, which coordinated the identification and sequencing of all of the 20,000+ genes contained in the human genome. A genome is comprised of all of the DNA within an organism's body and has often been described as the blueprint of life, as it provides instruction for a large majority of what individual cells will "do" in their lifetimes.

The genetic information gleaned from the Human Genome Project has allowed scientists to begin what will be a long process of identifying the functions of individual genes within the body and correlating any mistakes, or mutations, within particular genes with disease development. Although this is a work-in-scientific-progress, a good number of genes have already been identified that can have a big say in your propensity for disease.

Current technology enables individuals like you & me to submit ourselves to a DNA test and to learn about our genetic blueprint. Specifically, we can find out which of our genes contain mutations- these are the genetic mistakes that can lead to future health problems.

The Women's Health article describes the experience of one woman as she obtains her genetic information through a mail-in DNA testing kit. Long story short, she found the experience confusing and didn't feel that she got any useful information out of the test. As such, the reader is most likely left with a negative impression of DNA testing. But I don't think they should be.

Although technology is currently available to spell out all of the A-T-C-Gs of your genetic code, it is *not* at a stage that is advanced enough to properly evaluate all genetic risk factors. For example, my DNA test might tell me that I have a mutation in my Mango gene, but if scientists don't yet know what the Mango gene does, then no one has any clue what the implications of my mutation will be. But, my genetic make-up will not change over my lifetime- and so, if the function of the Mango gene is elucidated 15 years down the road- then and only then will we have the potential to understand what consequences my mutation may have on my future health.

Scientists are putting a lot of effort into understanding "scary" genes- genes that, when they contain a mutation, can wreck havoc upon human health. Take the BRCA1 and BRCA2 genes. It has been determined that these two genes, should they contain mutations, can dramatically increase a woman's risk of developing breast and/or ovarian cancer (think normal woman = ~12% lifetime risk of breast cancer; BRCA mutation woman = 60-80% !!11!! lifetime risk of breast cancer). Now, these are genes that we know something about. And because of that knowledge, genetic information regarding every woman's BRCA sequence becomes very powerful.

Because of the powerful information contained within our genomes, DNA testing can result in a strong emotional response. And so, as the article author points out, DNA testing is not for everyone. You need to be willing to live with the information- the good, the bad, and the large chunk of the currently unknown. For a lot of people, obtaining genetic information will not provoke any major life changes. But for some people, like a woman with a BRCA mutation described in another Women's Health article, genetic knowledge can dictate profound life choices. Knowing about her BRCA mutation prompted her to undergo a double mastectomy, which cut her cancer risk by 90%.

DNA testing is confusing and difficult to navigate because of all of the current unknowns in the association of various genes with their respective diseases. For this reason, it is strongly recommended that anyone submitting themselves to a DNA test should also seek out genetic counseling. Genetic counselors can answer individualized questions about specific genomes- they can pull out the important information while downplaying the rest. And over time, genetic counselors stay up-to-date with genetic discovery- meaning that they can give you the most complete information available regarding risk factors and disease prevalence at any point in time.

So, my conclusion is: If you areĀ  emotionally prepared to handle your results, DNA testing can be a very good choice for those who desire to learn more about their genetic makeup and associated risk factors. I can tell you that if I had a family history of diseases with strong genetic components, then I, personally, would get tested. But we cannot expect DNA testing, at this point in time, to have all of the answers. Every individual will get something different out of their results. Acknowledging and understanding these limitations and variability up front is important in avoiding disappointment.

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The Scientopia front page has a list of all of the other great Women's Health write-ups being offered this week. Perhaps you'd like to read about why your body is telling you to cheat or about men who are cry babies. Good stuff.

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