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Kiss Me, I'm Neanderthal

Columnist: Michael E. Duffy
February, 2015 Issue

Michael E. Duffy
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Clearly, there are some skeletons in the family closet along with the Neanderthals.

A relative of mine (a Stanford grad who’s now a physician) gifted me with a Genographic 2.0 kit, part of an effort by National Geographic to build a database of DNA profiles for research. Basically, you swab your cheek twice and send the samples off to a lab by snail mail. In eight weeks or so, you can log in and find out where your ancestors originated. One reason my relative wanted me to participate is that male DNA provides information about both paternal and maternal ancestry, by virtue of its X and Y chromosomes. It sounded interesting—and hey, free!—so I swabbed, mailed and waited.
The test results show that I’m 3.6 percent Neanderthal, which is above the 2.1 percent average for the test population of about 700,000 people. It doesn’t mean much other than my distant Homo sapiens ancestors got busy with their Neanderthal neighbors at some point. The test also looks at specific mutations (markers) to determine my “deep” ancestry (somewhere in the past 100,000 years). Although we all originated in Africa, my maternal ancestors crossed the land bridge from Asia to the Americas. My paternal ancestors migrated north to what is today Europe and the Mediterranean.
It’s interesting to see how this is determined. Basically, tests look for mutations (small errors that happen as DNA is passed from parent to child) that link you and others with the same mutation to a common ancestor (called a haplogroup).
The test also shows your “regional ancestry” by comparing your DNA to that of “reference populations” from various areas around the world. My DNA shows that I’m 38 percent Mediterranean, 34 percent Northern European, 16 percent Southwest Asian, 8 percent Native American and 2 percent Southeast Asian. The Mediterranean and Northern Europe aspects aren’t surprising, given my father’s side of the family hails from England and Ireland, and my mother’s family originated in Spain. But the Native American is a complete mystery. Clearly, there are some skeletons in the family closet along with the Neanderthals.
Thanks to the advent of inexpensive DNA sequencers, there are a number of companies doing ancestry-related DNA testing: FTDNA, AncestryDNA and 23&me. 23&me used to provide health-related reports as well, but got into hot water with the FDA in November 2012, so those are (currently, at least) unavailable to newer customers. The Genographic Project partners with FTDNA for the actual lab testing, and you can transfer your results to FTDNA, where more services are available (at a price). FTDNA advertises itself as the most complete (and charges a higher price than the other two services, both of which are $99). The Genographic Project test kit I used costs $160.
My generous relative, who’s used all three services, says 23&me has the best Web-based interface, but that FTDNA has the best research data (in part, due to use of a somewhat newer DNA sequencing technology). Regardless of the service you use, the information about your particular branch of the human family tree (your haplogroup) is likely to be the same. All three companies offer ways to find people with similar genetic backgrounds (in other words, your relatives).
It’s really a shame that 23&me is no longer allowed to provide health-related information, although the FDA has a point: People might make (bad) health decisions based on what their DNA says about their susceptibility to diseases, particularly things like cancer or dementia. Worse, 23&me pretty much took the attitude of “ask forgiveness, not permission” and found the FDA isn’t very forgiving when flouted. I’m pretty confident this will eventually get resolved, though. Last June, 23&me submitted one test for FDA approval (it used to offer 200), and will undoubtedly submit more if successful. It remains to be seen what tests will be approved and with what restrictions required by the FDA. 23&me has a vested interest in getting approval for common genetically related diseases, as sales of its testing kit dramatically decreased once the health-related information became unavailable.
Even ancestry-related testing can hold unexpected surprises. Since a man gets his Y chromosome directly from his father (possibly with minor mutations), it would be a big surprise for a son or father to find out his Y-chromosome information differs markedly from his father or son, respectively.
Note that if you want to get genetic testing through your doctor, there are companies like Counsyl and Pathway Genomics, which offer those services. Of course, these tests are more expensive ( insurance). The screenings at Counsyl will set you back $999 if you pay the full price yourself.
As I see it, biotechnology is the next big wave. Low-cost DNA testing is just one example. Low costs lead to ubiquity, which leads to new uses that make our lives better.




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