Last year for my grandmother’s 97th birthday, I got her a 23andMe genetic testing kit. Granted it may have been an unusual gift, but I thought it would provide some interesting information about our ancestry, a subject close to my grandma’s heart, as well as some insight into her health and maybe even my own. When I gave her the kit, my Grams (as well as most of my family) was a bit confused by what it was. I learned that she wasn’t even sure what DNA was, let alone what I would want with it. Grams was a bit hesitant to give a spit sample, but agreed to it, as long as she could do it in private without people watching her. With the sample collected I sent it off to the lab, where it was processed as below, and then waited for the results.
Once the results were in, the fun part began and I was able to start exploring. The first results I looked at dealt with her health (this service has since been discontinued due to a ruling by the FDA, more on that here, and here).
Thankfully there weren’t too many surprises or causes for worry in the results, although slightly higher odds of macular degeneration and Alzheimers are worth taking note of. In addition to the health risks, there was also a results section on how Grams would be expected to react to certain drugs. Again not too many surprises, for most drugs she would have a normal response, however the results reveal that she is likely a fast metabolizer of proton pump inhibitors and caffeine, and that she has increased odds of responding to beta interferon therapy. The test also reported on any inherited conditions that my grandmother might have, and fortunately of all the conditions scanned (e.g., phenylketonuria, usher syndrome, Tay-sachs disease, and maple syrup urine disease) she does not carry the required genetic variant. The only variant that was present was for hemochromatosis, but the results suggested that Grams is not at risk of having higher levels of iron in the body, but may pass on the mutation to her children. This was the first result that I read that hit a bit close to home, whenever I donate blood, I always have very high iron levels, and now I believe I have a bit of an understanding as to where some of that comes from, thanks Grams!
The health results also includes a section on certain inherited traits that you might expect to have. Some of the surprising results were that my Grams’ would be expected to have the muscle performance of a sprinter, which is something quite fun to imagine. 23andMe also has some fun with the results, and they are able to turn your DNA into a musical melody. The melody is created by using 4 musical elements, key, rhythm, pitch, and timbre. The key of the melody is determined by the maternal haplogroup, rhythm is derived by eye color and height, pitch by ear wax type and photic sneeze response, while timbre is chosen by the user. You can listen to the sound of my Grams’ DNA here.
The kit also provides some interesting information about my Grams’ ancestry and possible relatives. So far, 23andMe has found 995 DNA Relatives (17 of whom are 2nd-3rd Cousins, 573 are 4th cousins, and 405 are 5th cousins or distant relatives). We have always known she is Scottish and the results confirm her Northern European ancestry.
While the Northern European bit was as expected, the percent Neanderthal came as a bit of a surprise. Turns out 3% of my Grams’ DNA is from Neanderthals, which is pretty high, and pretty cool!
This weekend my Grams turns 98, when she was born DNA research was in its infancy and it would still be another 40 years before the structure of DNA would be uncovered. I think it is amazing that she has lived through so much. She is a wonderful mother, grandmother, great-grandmother, and all around amazing person. Happy Birthday Grams!