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Will a personalized DNA report ever be commonly ordered?

James Marroquin, MD
Conditions
November 27, 2013
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About two weeks ago, my wife looked over at me in disgust as I spit a large volume of saliva into a plastic test tube just before we went to bed.  I had recently received a testing kit from a company called 23andMe, which for $99 conducts a comprehensive analysis of your DNA.

I first learned about this kind of thing a few years ago reading Francis Collins’ book, “The Language of Life:  DNA and the Revolution of Personalized Medicine.”  Collins is the current director of the National Institutes of Health (NIH) and was director of the Human Genome Project when it achieved a working draft of the genome in 2000.  In the book’s introduction, he describes how he submitted his DNA to 23andMe and two other companies offering complex DNA analysis.  Learning he had a higher than average risk of developing type 2 diabetes, Collins resolved to “go ahead with a long-postponed plan to contact a personal trainer and work harder at a diet and exercise program.”  He was also relieved to learn that he had a low risk of developing Alzheimer’s disease.

When I received an email telling me my results were back I felt apprehensive about the Alzheimer’s component what I would find.  As Collins writes in his book, the APOE test for Alzheimer’s disease is “one of the strongest genetic risk factors yet identified, capable of increasing one’s risk by as much as eightfold.  And at the present state of medical research, there is nothing you can do about it, other than use the information to plan for the future.”  Ultimately, the desire to know quickly overcame any qualms I had about what I’d do with the information.

So when I pulled my car up to the cleaners to pick up some clothes, I logged in to my 23andMe account through my phone.  Before receiving the results of my risk for developing Alzheimer’s and Parkinson’s disease, I was required to read a lengthy, informative warning about the implications of learning this information.  While appreciating the company’s attempt to act responsibly, I quickly scrolled down the page looking for the results, holding my breath as I did so.

Then I saw it:  My risk for getting Alzheimer’s between the ages of 50-79 was 4.3% compared the 7.2% average. I felt like I’d just received a good grade on my report card, except that I had done nothing to deserve it.

I did find that I have a higher than average risk of developing certain health problems.  Thankfully, most of these are conditions that can be screened for and treated.

I also learned that my ancestry is pretty homogeneous:  96.6% European, with 2.7% East Asian and Native American thrown in just to spice things up a little bit.

Perhaps because the tests did not reveal any very concerning abnormalities, I have a feeling that this report on my DNA is something that I will soon largely forget.  Nonetheless, it was an enlightening preview of the kind of personalized, gene-based analysis that may become a common component of health care in coming years.

Interestingly, the Food and Drug Administration (FDA) recently instructed 23andMe to halt sales of its main product.  The FDA argues that 23andMe’s claim to tell people whether they are at risk for certain diseases falls into the category of a medical device.   Medical devices require FDA approval which 23andMe has not yet received.

James Marroquin is an internal medicine physician who blogs at his self-titled site, James Marroquin.

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Will a personalized DNA report ever be commonly ordered?
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