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 are  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.

18 responses so far

  • FrauTech says:

    I don't know, it seems about as useful as those "bull body scans" that were going around a while ago. I'm not sure how much this costs though. If I could afford it I might do it just for the neat factor. I know family that's gotten DNA testing for very specific, known mutations. Specifically to see whether the next generation carried the problem or not, and affecting whether they would have children biologically or adopt. I get what you are saying that your DNA won't change and maybe we'll know more in just a few short years, but then the cost/ease of the test will likely also get cheaper as well right? Interesting post though, food for thought certainly and agree the woman in the magazine example completely misrepresented what one might be able to get out of it. It's like science becomes "voodoo" and people go to their doctors but don't remember what their doctor said because it's all "magic" and untouchable to them. Frustrating that people don't try to learn or teach themselves what they would directly benefit from.

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  • Jojo says:

    You seem to be addressing genetic testing done by medical professionals testing for specific mutations. It seems to me this article is talking about the mail in tests that you purchase from the pharmacy. I've seen some of those mail in kits claim that they can tell what kinds of sports a child should play. I've also read that the mail in test results are often incorrect and/or interpreted improperly. Would you be able to address the mail in DNA tests compared to tests that might be ordered by a doctor?

  • [...] the original post: Women's Health: WTF is in my DNA? | Candid Engineer in Academia Comments [...]

  • Much about these DNA tests is really about extracting information without knowing what it means. Last year was the first ever conference on personalized medicine and at the conference many of the participants were eager to talk about the market that could develop for direct to consumer genetic tests. In my view, these tests really have to be interpreted and communicated by health professionals because of the risks these tests can highlight and because of the large body of interpreted information associated with such tests. Without a very well trained guide, individuals could easily be making decisions on the information without sufficient understanding.

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  • Candid Engineer says:

    @ Jojo- Currently, the type of testing discussed in the article- which involves shipping a DNA sample to a retail DNA-testing service- is not available in pharmacies. This article is not referring to paternity tests, which are available at drugstores.

    I am not sure how many legitimate DNA testing companies are out there- but the subject of the Women's Health article, a company called 23andme, makes no extraordinary claims about what sports your kids will play, etc. 23andme appears to be totally legitimate.

    As to how accurate? 23andme uses genotyping to sequence only the portion of human DNA that are prone to genetic variation. Their website claims over ~99% accuracy. I am sure this varies from vendor to vendor.

    As to improper interpretation? This stems from our incomplete understanding of what specific DNA mutations turn into what specific risk factors for disease. Unless you are looking at the results of an extremely well-characterized gene- say, BRCA1, then you need to take the results with a grain of salt, at least until we know more.

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  • Jojo says:

    Thank you for taking the time to clarify that for me.

  • kdcosta says:

    I had a chance to hear Esther Dyson speak at IgniteNYC on Monday and I was completely blown away by her endorsement for genetic testing. Not that I'm running out for a DIY kit, but I think you both make a really important point: the genetic makeup doesn't change, and vague information can suddenly have real implications down the road.

    That said, users do need to understand what they're getting from the test. And be prepared to deal with the results.

  • [...] Women's Health: WTF is in my DNA? | Candid Engineer in AcademiaThe 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 … [...]

  • As a scientist and a breast cancer survivor who is now metastatic (at 37!), I want to rush into widespread testing and studies and research, as surely there must be hope there -- but until we have the research, I worry that the widespread testing will only cause panic. I don't know the answer. I have a kit here that I don't even know whether I should use. I think it's really, really early in the game, and I think I'm going to wait until we know a little more about what our genes can tell us.