Genetic Testing: How I Stopped Worrying and Learned to Love My Genotype

Ilona Biro

Getting your genotype mapped might sound like something out of a sci-fi movie, but when the opportunity came my way, I decided to take the leap.

Though I'm naturally curious, my family wondered why I would bother. For one thing, I was healthy, and had delivered two healthy kids, so genetic screening on their behalf was a moot point. Plus the service offered by 23andMe cost $299, not an insignificant amount. Finally, there was the notion that some horrible revelation could surface, one that I might prefer not to know.

There was no doubt I would discover many things, some good, some bad, and some completely random - like the fact that I'm resistant to the norovirus (cruise ship holiday here I come!).

Ultimately I decided that it's better to know my risk for certain conditions and diseases than not to. As 23andMe's Research Development Manager, Dr. Emily Brabant, explained, "To have specific results regarding your own personal risks, gives you greater motivation to make changes, changes you might've contemplated, but not made, in the past." Nothing like a reality check to help keep those New Year's resolutions in play. So I took the leap and the rest is history. My very personal history.How it works: Once you're registered and sent in your saliva sample, researchers then look at around a million points across your DNA that have been associated with certain traits, diseases or conditions. A few weeks later, an email arrives giving you access to more than 240 reports personalized to your DNA. These reports are in four main buckets - disease risk, carrier status, drug response and ancestry. Depending on your interests, some or all of the information will be of value. In my case, I was most interested in my disease risk and carrier status.

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I breathed a sigh of relief when I discovered that I don't carry any mutations for 24 different genetic diseases, including Tay-Sachs, cystic fibrosis, and more obscure conditions, like Bloom's Syndrome and Maple Syrup Urine Disease Type 1B (yup, it exists). Then it was on to the disease risk report, which compares your risk to that of the general population, based solely on genetic factors. Since diseases occur for myriad other reasons, including environment and lifestyle, one has to realize that a higher risk might translate into a very small risk - especially if it's a disease that is extremely rare in the general populous. So while my risk of developing bipolar disease is somewhat greater than average, because it occurs so seldom, (in only .1% of the population), I don't have huge cause for concern. On the other hand, I'm 3 times as likely as the average person to develop a much more common condition, Venous thromboembolism, also known as economy class syndrome, a bit more of a worry since I'm a frequent flier.

Of all the reports that 23andMe produces, three are 'locked' because they strongly correlate with genetics, pose a much higher risk to people with the variant, and currently have no cure. These are Alzheimer's, Parkinson's and the BRCA breast cancer mutation. "Because of the heightened risk," explains Dr Brabant, "we present tools so people can arm themselves with information and learn about next steps." To my great relief, I learned I have a lower than average genetic risk for Alzheimer's and Parkinson's and that I do not carry the BRCA gene mutation linked to breast cancer. In a nutshell, here's what I found:

I'm not a carrier of mutations linked to 48 heritable conditions/major genetic diseases
I have higher than average risk for Type 2 diabetes, melanoma, venous thromboembolism and psoriasis
I have lower than average risk for 26 other conditions
I have increased drug response to oral contraceptives and hormone replacement therapy
I have decreased drug response to hepatitis C treatment

And results keep rolling in. Emails arrive in my inbox telling me to check the site for updates on new genetic discoveries. Most recently I learned that two variants - one for hereditary fructose intolerance and the other for hemachromatosis - were both absent in my genotype. No cause for alarm, but possibly helpful if I was a carrier who had health issues that were not being properly diagnosed.

The website is open to all customers, who can search for genetic relatives, take health surveys, and read about the research that 23andMe is doing. Community members are encouraged to take medical surveys which find correlations between genetic variations and medical conditions and traits. As the pool of customers grows, the data becomes that much more reliable. And some of the info is just plain fun to browse, like variants linked to freckles, unibrows, and curly hair. And you can also find out how closely your genotype matches that of a neanderthal's.

Knowing that I'm resistant to the norovirus might not be life-saving information, but my heightened risk for venous thromboembolism has definitely changed my behaviour on airplanes, where I now take frequent walks around the cabin, just in case. Who knows what I'll discover in the years ahead? Seeing the results so far, and knowing how fast genetic research is progressing, I've no doubt that more actionable information will come my way.