Ötzi the Iceman Leads a Wave of Genetics Buzz

The popularity of recent news reports on the DNA of the mummy Ötzi remind us that genetic breakthroughs are reaching far beyond white-lab-coat laboratories. Right now, the cost of DNA testing is affordable, genetic research is growing exponentially, and finally—legally speaking—your DNA is yours. Will 2013 be remembered as the year that genetics went main stream?

A life-size model of Ötzi the Iceman.
A life-size model of Ötzi the Iceman. Photograph by Robert Clark, National Geographic

This past June, the US Supreme Court passed a law stating human genes cannot be patented because they are a product of nature.  Although legal fights will continue for years surrounding the court ruling’s fine print, this case may have opened the doors to a genetics boom. And as of today, the price to learn about yourself by sequencing ten million bases of your DNA is cheaper than getting your palm read by the local fortuneteller. Arguably, it is more accurate, too.

Increasing trends in consumer and participant genetics.
Increasing trend in consumer and participant genetics. Chart by Spencer Wells

The boom was explained in September by National Geographic’s Genographic Project Director Spencer Wells at the Consumer Genetics Conference in Boston. “The big inflection point in genetic testing has happened this year. As genetic consumers, we surpassed one million, and Genographic was responsible for about half of those participants,” stated Wells.  “But the cool thing is it will only take a year to hit the next million.”

The buzz will continue through the end of the year as new breakthroughs in human population genetics hit the academic newsstands at a faster pace than ever. Results from just ten months of data generated by The Genographic Project’s DNA chip (GenoChip)—a testing tool that scans any participant’s sample for 150,000 possible mutations in their DNA—has already reshaped the modern human evolutionary tree in previously unimaginable ways. What was in 2010 an evolutionary equivalent of a sapling is now a majestic redwood.

National Geographic's GenoChip. Stock photograph
National Geographic’s GenoChip. Stock photograph

In 2013, no longer is it just a handful of scientists debating, or even caring, when the most recent common male ancestor to all humans may have lived.  We now have enough information and knowledge for genetic enthusiasts to contribute in pretty significant ways. It took decades to come up with anthropology’s first age estimate for modern human origins, but just this year, three different research groups published research yielding new estimates and came out debating the topic. One group even suggested “Y-Chromosome Adam” was 330,000 years old.

These breakthroughs are not limited to today’s consumer genetics.  Just in these past two weeks the three hottest stories in anthropology were on ancient humans and their DNA. Genographic scientists just published a breakthrough paper in Science on the genetic make-up of 5,000 years of Central European settlers, while the discovery of a nearly two million year old Homo species in the Caucasus reshaped the human evolutionary tree. Meanwhile, recent insights into the maternal and paternal lineages of Ötzi the Iceman have Genographic participants abuzz about their direct ties to this iconic Neolithic hunter. Spoiler alert: he was haplogroup K, and so are many of you. But in this genetic day and age you probably already knew that.

A man from Asturias, Spain swabs to participate in the Genographic Project and trace his ancient ancestry. Photo by Francisco Vina.
A man from Asturias, Spain swabs to participate in the Genographic Project and trace his ancient ancestry. Photo by Francisco Vina.


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Meet the Author
Dr. Miguel Vilar is the Science Manager for National Geographic's Genographic Project. Miguel is also a molecular anthropologist and a science writer. His fieldwork has taken him to remote places throughout the South Pacific, East Africa, Mesoamerica, and the Caribbean. In the laboratory he researches the modern genetic diversity of human populations from Melanesia, Micronesia, North and Central America, and the Caribbean. Miguel has published in several anthropology and genetics journals, as well as popular science magazines.