Honk if you're Neanderthal! Tracing my roots with big data

Posted By Valerie Olague
Windows Embedded digital marketing lead

Whenever I meet new people, I try to guess the part of the world that their ancestors came from. A combination of their appearance and their name leads me to a guess, and I must admit I’m pretty good at it, at least from a regional perspective. English vs. Irish vs. Scottish? Yes. Italian vs. Greek? Yes again. Chinese vs Japanese? Yes. Add in Korean and Vietnamese? Some of the time. Swedish vs. Danish? Never!

With all this guessing going on, you can be sure that I also wonder about my own roots. My maiden name, Carras, is Greek (spelled Karras in Greece, since there is no ‘c’ in the Greek alphabet). On both sides, my parent’s parents immigrated to America from Greece. But what happened 500 years ago or more? And what makes Greek people Greek? It was only a matter of time before I sent a saliva sample to a DNA analysis company to tap into the power of big data to find out more about my maternal lineage. And find out, I did.

Companies like the one I used take advantage of big data garnered from the Human Genome Project as well as data gathered amongst their user base to provide an ancestry mapping that can go all the way back to “Eve,” the most recent common ancestor for all modern humans. What we today call modern humans left Africa about 50 – 60 thousand years ago. Scientists have known for a long time that when these modern humans arrived in the EMEA regions, they likely encountered an earlier migrator called Neanderthal. What scientists have discovered, based on DNA analysis of both modern humans and DNA extracted from Neanderthal bones (mostly found in a cave in Croatia), is that the two species actually bred to the point where today, all non-Africans contain 1-4 percent of Neanderthal DNA. (If you are interested in learning more, Svante Paablo, an evolutionary biologist at the Max Planck Institute for Evolutionary Anthropology, gave a wonderful TED 2011 talk on the subject.)

I found out that not only am I Greek, I am 35.3 percent Italian and 2.8 percent Neanderthal! This has obviously led to very interesting family conversations, and perhaps a bit more information than I thought I was going to get. In addition to ancestry, I was also provided with my genetic likelihood of developing certain diseases, based on my genetics alone (rather than also including lifestyle and location). It is because of the ability to provide people with this kind of information that the Food and Drug Administration is now labeling these testing companies as “medical devices,” potentially requiring the same levels of certification as systems that measure life-threatening conditions. U.S. medical device manufacturers already know that going through the strict certification process is time- consuming and expensive. And, in a new twist, as part of the Affordable Care Act (ACA), medical-device manufacturers will be required to pay a tax for every new device in the market to help fund the ACA program.

I’m not here to provide a personal opinion on informational DNA testing considered being labeled a medical device. I’ll let you do that. In the meantime, I have a new bumper sticker on my car -- and so far I haven’t heard as many honks as I rightly deserve!

P.S. A follow-up report to my previous blog about big data and my dog, Charlie Brown: He has finished all of his injections, and will go back for his six-month check-up in February. He is very happy, and so am I.