Genetic analysis: my results and my reality

A few months ago, it was National DNA Day or something like that, and one of the genetics analysis companies had a sale on their analysis kits, offering a full panel of testing for only $100. Giddy with the excitement of saving almost $1000 on something I’d long been interested in doing, I signed on, ordering one kit each for my husband (a.k.a. “The Viking”) and me. Soon, we found ourselves spending a romantic evening spitting into vials and arguing about whether or not we’d shaken them long enough before packaging them.

The company promised results in six weeks, but they came much faster than that, in about three weeks. Much to my relief, I learned that neither of us carries markers for cystic fibrosis and that I lack either of the two main mutations related to breast cancer. Those basic findings out of the way, things then got more complex and more interesting.

How it works

First, a bit of background. These tests involve sequencing of specific regions to look for very small changes, a single nucleotide, in the DNA. If there is a study that has linked a specific mutation to a change in the average risk for a specific disorder or trait, then the company notes that. The more data there are supporting that link, the stronger the company indicates the finding is. Thus, four gold stars in their nomenclature means, “This is pretty well supported,” while three or fewer slate stars means, “There are some data for this but not a lot,” or “The findings so far are inconsistent.”

Vikings and Ireland

The Viking is a private person, so I can’t elaborate on his findings here except to say that (a) he is extraordinarily healthy in general and (b) what we thought was a German Y chromosome seems instead to be strictly Irish and associated with some Irish king known as Niall of the Nine Hostages. Why hostages and why nine, I do not know. But it did sort of rearrange our entire perception of his Y chromosome and those of our three sons to find this out. For the record, it matches exactly what we learned from participating in the National Geographic Genographic project. I’d ask the Viking if he were feeling a wee bit o’ the leprachaun, but given his somewhat daunting height and still Viking-ish overall demeanor (that would be thanks to his Scandinavian mother), I’m thinking he doesn’t. Lord of the Dance, he is not.

Markers that indicate an increased risk for me

I have an increased risk of…duh

Looking at the chart to the left (it’s clickable), you can see where I earned myself quite a few four gold stars, but the ones that seem most relevant are those with a 2x or greater increased risk: lupus, celiac disease, and glaucoma. The first two do not surprise me, given my family’s history of autoimmune disorders.

If you focus on a list like this too long, you can start to get a serious case of hypochondria, worrying that you’re gonna get all of these things thanks to those glaring golden stars. But to put it into context, for the lupus–for which my risk is 2.68 times higher than a regular gal’s–that still leaves me in the population in which 0.66 persons out of every 100 will develop this disorder. Compare that to the 0.25 out of every 100 in the regular-gal population, and it doesn’t strike me as that daunting.

Some of those other things on there? Well, let’s just say they’re close. My risk of thyroid cancer might be raised…but I no longer have a thyroid. Hypertension risk is increased–and I have stage 2 hypertension. Gallstones, gout, alcholism, asthma…based on family history, it’s no surprise to me to see some mixed or clear risk involved with these, although I have none of them. Does that mean that someone else with these increased risks will have related real-life findings? No. It only means that you’re at a bit more risk. It’s like riding a motorcycle vs. driving a car. The former carries more risk of a fatal wreck, but that doesn’t mean you’re absolutely gonna die on it if you ride it.

Disorders for which my risk is allegedly decreased

I have a decreased risk of...

None of my decreased risk findings are very eye catching in terms of actual drop in risk except for Type II diabetes (now where is my bag of sugar?). As I have been under evaluation for multiple sclerosis and have a family member with it, it’s interesting to see that my risk for it, based on existing studies and known polymorphisms, is decreased. And even though I know that much of this is largely speculative and based on little firm data, it’s still sort of comforting to see “decreased risk” and things like “melanoma” in the same group.

Don’t make my brown eyes blue!

And they didn’t. They nailed the eye color and other trait-related analysis, such as level of curl to the hair, earwax type, alcohol flush reaction, lactose intolerance (unlikely), and muscle performance (I am not nor have I ever been a sprinter). And even though I do not have red hair, they reported that I had a good chance of it, also true given family history. I am not resistant to malaria but allegedly resistant to norovirus. I wish someone had informed my genes of that in 2003 when I was stricken with a horrible case of it.

Ancestral homeland

Yep. They nailed this one. One hundred percent European mutt. Mitochondria similar to…Jesse James…part of a haplogroup that originated in the Near East about 45,000 years ago then traveled to Ethiopia and Egypt and from there, presumably, into Europe. It’s a pretty well traveled haplotype and happens to match exactly with the one identified by the National Geographic Genographic project. When it comes to haplotypes, we’re batting 1000.

In summary

Some of these findings are reliable, such as the absence of the standard breast cancer mutations or the presence of certain mutations related to autoimmune disorders, while other findings are iffy. The company duly notes their iffiness  in the reports, along with the associated citations, polymorphisms, and level of risk identified in each study. They don’t promise to tell you that your ancestors lived in a castle 400 years ago or hailed from Ghana. From this company, at any rate, the results are precise and precisely documented, and as I noted, pretty damned accurate. And they’re careful to be a clear as possible about what “increased risk” or “decreased risk” really means.

It’s fascinating to me that a little bit of my spit can be so informative, even down to my eye color, hair curl, and tendency to hypertension, and I’ve noted that just in the days since we received our results, they’ve continually updated as new data have come in. Would I be so excited had I paid $1100 for this instead of $200? As with any consideration of the changes in risk these analyses identified, that answer would require context. Am I a millionaire? Or just a poor science writer? Perhaps my genes will tell.

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