Adventures in DNA Land

There it was, sitting on my kitchen counter. A deceptively simple kit containing a small plastic tube with a screw-on top and a well-padded return envelope. All I had to do was spit in the tube and send it back, then wait for the world of information they promised. But I hesitated. Glancing at that tube made me oddly anxious.

A few months ago, an irresistible offer arrived by email. It was from Ellen, who was letting me know that 23andMe, one of the companies making home DNA kits, was practically giving away their deluxe genetic testing package — usually priced at $499 — for $99. One day only.

Wow, how great is that?! I’ve always been fascinated by genetics, and here was my chance to play in the sandbox without making a big investment. In the time it takes for a few impulsive clicks of the mouse I ordered the kit without thinking much about the consequences. It wasn’t until after I clicked on buy now that I went back to check out what I’d gotten myself into.

The 23andMe home page reads … Know yourself. At a molecular level. Take a journey of self-discovery. With one simple test you can explore the mystery of your own genes. You’ll learn what your genes say about your traits and learn about your disease risks.

Which begs the question, do we really want to know?

It turns out that 23andMe tests for carrier status of a slew of gene mutations, including those associated with breast cancer, cystic fibrosis, sickle cell disease, Tay-Sachs, and that’s just the beginning. Based on variations in your DNA they will determine your relative risk of developing a list of common health conditions, like diabetes and heart disease. And your risk of passing those on to your children. They use that same genetic profile to predict your response to a variety of drugs and medical treatments. As the web site says … state-of-the-art science at your fingertips.

Between the time I ordered the test and the afternoon I spent staring at it on my counter top, lots had happened. The Food and Drug Administration, concerned about the accuracy of test results for consumers, warned the genetic test makers (including 23andMe) that they must submit their products for review.  Officials became concerned when 23andMe reported that a laboratory mistake had caused up to 96 of its customers to receive genetic test results about someone else. Walgreens, a huge drugstore chain, scrapped plans to sell the tests marketed by another maker.

But I had paid my $99, and figured I could take anything they told me with a healthy dose of skepticism and the added benefit of a medical education, so I swallowed my anxiety and mailed off my vial of saliva. Results were expected by email in 6-8 weeks. As it turned out, they would come much sooner than that.

Things got even more interesting. I read a thought-provoking article about home genetic testing on CNN.com and commented online that I had just sent in my own test sample and was waiting for results. The next day, Elizabeth Cohen, CNN’s senior medical correspondent, called to interview me about the experience.

While I was already having doubts about this foray into my genetic mysteries, her questions stopped me in my tracks.

What, specifically, was I hoping to learn?

How might the information change my lifestyle and habits?

If I learned I was at significant risk of developing a serious condition, what would I do?

Had I told my children I was doing the test?

If I learned I was the carrier of a mutation associated with a known condition, would I tell them? Under what circumstances?

Did I plan to have them tested?

What about my husband?

They were great questions, and it felt very different to have to answer them head on. Read her piece here.

I hung up the phone more confused and anxious than ever. What would I do? How would I react? What would I tell my kids — so far I hadn’t said a word. This thing had taken on a whole new dimension. It wasn’t just a bargain opportunity to satisfy my curiosity anymore, now it required some serious ‘what if …?’ scenarios.

This was about the time I noticed that sick feeling in the pit of my stomach. It got worse every time I flashed on those results that were going to show up in my inbox any time now.

A few days later I opened my email and there they were. From: 23andMe. Subject: Your Results. A rush of adrenalin. Then I double clicked and logged in (try remembering your password under that kind of pressure).

23andMe organizes the results into ‘My Health’ and ‘My Ancestry’. My Health, the part that had my heart racing, is further divided into ‘Disease Risk’, ‘Carrier Status’, and ‘Drug Response’ (less important to me). I clicked on Disease Risk and could barely focus. There were two lists, each with about 20 well-known health conditions. One list was called Elevated Risk (in bold red), the other Decreased Risk (in bold green).

I don’t think I was breathing as I went down the list feeling terrified and stripped naked. Totally vulnerable. My medical knowledge was entirely worthless. OMG! Colorectal cancer, heart attack, and melanoma were all on the increased risk list. Osteoarthritis, multiple sclerosis, and esophageal cancer were on the decreased risk list, but so what, since those other things were going to kill me, and probably soon.

After I calmed down and got the rational side of my brain back, I looked closer. It turned out that the increased risk they were talking about wasn’t much of a big deal after all. The average risk of heart attack across the general population is 7.4%. My risk is 8.2%. Melanoma? Average risk, 1.7%. Mine, 2.4%. And on and on. Not much news there, as the increases and decreases in risk were small, and they pretty much balanced out.

I moved on to Carrier Status and was faced with another list of genetic mutations I apparently don’t have. So far so good. But then I saw a box that sent me right back into panic mode. They were asking for my consent to view the results for two common BRCA variants — the ones responsible for many familial cases of breast cancer. I immediately assumed that if I needed to consent, it must mean I have it. Otherwise, they’d just list it along with the rest. They were making sure I wanted the bad news.

I stared at that consent tab for the longest time.  No women in my family had had breast cancer, as far as I knew. It didn’t make sense. But I was already planning the heartbreaking conversation I’d have with Daughter, and when and if I’d want her to be tested. Before I picked up the phone to call my doctor and request an advanced breast imaging study, I covered my eyes and clicked ‘consent’.

Variant absent. That’s what it said. That means I don’t have the mutation, and I’m not a carrier. But I had to consent to know that. I felt huge relief mixed with something else. Anger? Frustration that I had been in terror of that little consent tab for no reason? In some ways, it seems like what I was feeling at that moment summed up the whole experience. State-of-the-art science at your fingertips. At what cost?

One last result was interesting, if not ironic. Alcohol dependence is on the list of my ‘decreased risk’ conditions. Apparently I have a genetic marker associated with reduced incidence.

But I am the child of two alcoholic parents, which the research shows puts me at five times greater risk than those without alcoholic parents. Does that mean the test is wrong? No. Alcoholism, like so many of the conditions tested for, is multi-factorial. Genetics plays a role, but it doesn’t tell the whole story.  Lucky for me, I didn’t get the double whammy of a genetic predisposition PLUS environmental risk. But seeing the genetic results alone could be misleading and dangerous. For me, being aware of my risk is important for prevention.

Full disclosure: 23andMe offers a ton of information on their website. They go into articulate scientific detail about the meaning and interpretation of the results. They offer genetic counseling services and plenty of other resources to explore the world of your personal genetics. It’s fascinating and nuanced.

But is it a good idea? How prepared are we really to handle the unfolding of our DNA? I got some interesting information, sure, along with an unhealthy case of anxiety.  What if my results had been more ominous? What if they predicted consequences for the health of my kids? Were my curious clicks worth the price tag? Honestly, I don’t know.