Unravelling the Mysteries

A photo of me and my siblings, taken sometime before 1980.
Top: Christine
Middle: Wynn Anne, Pat
Bottom: Andrew, Stewart, Douglas, Harvey

That picture was taken when we were all young and healthy, while our parents were still (relatively) healthy. And it was taken before much usable research was done into the mysteries of the human genome.

Since then, the world of genetics has blossomed, and we've learned more than we ever dreamed. Cystic fibrosis, from which two of nieces suffer, was one of the first diseases whose genetic marker was pinpointed by researchers. It is now one of the first to be targetted for gene therapy!


Meanwhile, my siblings and I have entered middle age and have begun to wonder about what's in store for us. Alzheimer's? Stroke? Cardiac arrest? Type II diabetes? Our parents, aunts, and uncles have suffered or died from these.

Recently, a friend told me she'd had her DNA tested. There were no big surprises, she said, but it was interesting. I decided to do the same, and went to 23andme.com.

With return shipping to Canada, it cost just under $160.

I submitted my order on June 25, and received my first results on July 30. That included time for them to ship my kit, for me to fill a vial with my spit and ship it back to them, and then for them to start doing the analysis. Not bad!

One of the cool things about the 23andme site is that it's not just genetic analysis, it's also a social forum where users can add to a vast database of things like drug reactions, ancestry, and diseases - all of which get compared to others with the same or different genetics.

Here are the results they offer.

I was most interested in the health information. So here's the bad news:

Frankly, few of those were surprises, and I'm already working with my doctor to reduce my risks, with medications and lifestyle changes (yay, yoga!).

• My dad died of atrial fibrillation
• My uncle died of stroke (a vascular condition that I believe is related to thrombosis)
• Several family members, including my mother, have had colorectal cancer.

Rheumatoid arthritis, restless leg syndrome, and exfoliation glaucoma (had to look that one up) were not on my radar, however. Good to know about them. (And, yes, suddenly I'm hyperaware of my legs at night.)

Now the good news:

This was very good news, indeed. Alzheimer's Disease is one of my big fears and, since the CT scan I had a year ago indicated "microvascular changes," I've been a little neurotic. Oh, heck, I've been neurotic a lot longer than that, but still, the CT scan didn't help.

But it's also reassuring to see that I am at reduced risk for my Type II diabetes to progress to Type I (where my pancreas completely stops producing insulin). (I wonder if this result may change as the population of participants in this database ages and their diseases progress?)

There was also a list of health conditions for which I was at "typical" risk. Those included breast cancer, another one of my areas of concern.

One of the interesting results I hadn't anticipated was the drug response report. These results are obtained through participants who have answered surveys on the site.

Warfarin (which you may know as rat poison) sensitivity would seem to be irrelevant, except that it is used as a blood thinner for those at increased risk of stroke. This is definitely information that I'll be sharing with my family doctor.

Inherited conditions is another area of interest. We already knew that I carry the gene for cystic fibrosis, but there was other information available.

Hemo[long word] has to do with excessive iron absorption.

Mostly good news.

The next interesting bit was about ancestry.

All this really says is that it appears there was a lot of inbreeding in my ancestry. Let's hope future generations mix things up a little better. There is also the opportunity to connect with distant relatives online. I'm not interested in doing that. (I have enough known relatives.)

Those were the highlights. Now I'm contributing to the database by answering further questions of what I know about my health risks, by answering questions like these:

If I answer "yes" to any of these, it follows up by asking at what age I was diagnosed.

Of course, the question is, what will I do with these results? As I mentioned, I will share these with my doctor. But it has also given me some peace of mind that there are very few unknown ticking bombs in my genes.

I was anxious at first, worried that there would be bad news, but I decided that I would rather know - and be able to anticipate and respond - than not know and be caught off-guard. I am interested in knowing if anyone else in my family has done this (or is interested in doing so). What was your experience? Is there anything I should know?