In Living

I'm a one-man melting pot.

DNA tests can challenge your notions of ethnicity and family history

The numbers are tiny, but in a way, they're exactly what I was hoping for when I had my DNA tested by AncestryDNA.

You know, that moment when Henry Louis Gates Jr. shocks the famous guest on "Finding Your Roots" with unexpected data.

When my results arrived, there was no major surprise. This Italian-, German-, English-American boy is the proud owner of 98 percent "European" chromosomal goodness. But nestled within that statistic is three percent European Jewish (doesn't say whether Sephardic or Ashkenazy). The remaining two percent? Middle Eastern!

Most people want to know why I tested myself and I don't really have an answer beyond plain ol' curiosity. I climbed the mountain because it was there and to see what was on the other side.

And, says Christine Kenneally, author of "The Invisible History of the Human Race: How DNA and History Shape Our Identities and Our Futures," that hazy expectation is pretty common among folks who take the test, which is offered by a handful of companies.

"Usually it's a mix of questions about ancestry and health," she says. "Many people I spoke to were actually looking for a reason to justify doing something as seemingly grandiose as sending off a sample and getting their DNA analyzed.

"People are intrigued but they are still unclear what they can get out of it. They think they need a specific question to justify doing it. But the truth is what everyone gains is at least as valuable as what any one person might gain. They gain information about the past and the future of humanity, about the tiniest building blocks of their family and the way they get shuffled through time."

The companies that do the testing maintain databases that are helping to get a picture of the genetic diversity – but also the genetic commonalities – around the world. These databases are how companies like Ancestry draw their conclusions about ethnic makeup.

I spit into a vial, sealed it, mailed it off to Utah and a few weeks later ... voila! ... I'm two percent Middle Eastern.

"We take that saliva, and we test over 700,000 records across it," says AncestryDNA educator Anna Swayne. "With that data and that information we're able to compare you to other geographic regions and populations for which we've been able to collect DNA, and then compare your DNA results to those regions. Really, it's all based on current research that we've done to date. As we do more research, we hope to get more refined in some areas. That's exactly what we did for you and everybody else who gets tested."

The ethnicity profile could change, based on changes in the database, says Swayne.

"Let's say we update, we do more research in west Europe – which is one of your regions – and we're able to split, say, France from Germany, which is really hard to do genetically. Eventually we want to be able to do that. You wouldn't have to take the test again. We would just re-compare your DNA results to that region, and then we'd say, 'Hey, you're actually 45 percent German and only 12 percent French,' or something like that."

If the results were disappointing to me in any way it was that my ethnic categories seemed vague. My three main regions – Europe West (52 percent), Italy/Greece (25 percent) and Great Britain (6 percent) – all overlap, making it difficult to get more specific.

For example, Europe West covers all of northern Italy, which is where three-quarters of my Italian roots are sunk. It also includes part of England, from where half my mother's family hails. This means there is surely more than 6 percent English and more than 25 percent Italian in my genes.

The tests, however, says Swayne, test chromosomes that identify ethnicity (itself a slippery term) from 500 to 1,000 years ago. And our genes don't hew themselves to geo-political borders.

Two of my great-grandparents were natives of Piedmont, in northwestern Italy, a land that saw considerable Germanic influence over its history. And when Spain evicted its Jews in 1492, many of them went to Piedmont. So, what does a Piedmontese gene look like?

"It's a tricky thing because it's brand new research, as far as in the last five years or so that we are doing this kind of research," says Swayne. "It's exciting to see the progress ... because of these individuals who are living in those areas aren't 100 percent from that area. Maybe they are at that time period, but we don't bring that into calculations for our comparison.

"We don't follow geopolitical boundaries. As we do research on some of these regions, you can even see that even within these regions you have people from Italian regions, for example, Italian/Greece region, you can see that people in our population reference panel that we used to compare your DNA results to also have DNA from the Caucuses region, from the Middle East."

And, that, to me, is the most powerful lesson here. Even those of us that think of ourselves as 100 percent this or that are a melange – a stew – of chromosomes that have traveled in ways we can never have expected.

And while we are all connected in this complex and astonishing way, we are, at the same time, each completely unique. We tend to think of genes as coming down to us in a simple fractional way. We believe, for example, that one-eighth of each of our great-grandparents is in us, and in that way, we are the same as our brother or sister. But it's not that simple.

"You have all these other ancestors that contributed to your DNA though we don't know how much they contributed because you could have inherited more DNA from your paternal third great-grandfather than, say, a sibling did just because of the random inheritance that happens in each generation," says Swayne.

"What's fun for me to see with your results is that you have a bunch of different trace regions – 15% trace regions which means you have quite a spread in the European populations which you typically don't see in the average person who takes the test. That's fun for you. Understanding your history, you can go back so far on your tree and your lines showing Italian heritage, German heritage, even an English side. Then you have this Irish, even Iberian peninsula and even Jewish or Scandinavian connections from DNA that's been passed on from generation to generation."

Once you have your results from AncestryDNA, a list of potential cousins who have also taken the test appears on your Ancestry webpage, which allows you to connect with others to help fill in blanks on your family tree and make connections that can help you learn more. The system also creates DNA Circles for groups of matches.

One thing the AncestryDNA test – which costs $99 – cannot do is offer health information. There are, however, companies that offer testing of this kind.

I asked Christine Kenneally about potential downsides to being tested.

"This is a tough one," she says. "There are privacy risks but the extent of the risk is to some extent in the eye of the beholder. People worry about what will happen to their information when they die or when the company who has their DNA changes hands. These concerns are important and most of the big companies are pretty good about clarifying their position. Some people, on the other hand, are simply unconcerned by this.

"There's also the risk that you're going to discover something you wish you didn't know; maybe your ancestors aren't who they thought they were. Health-wise, the big companies that have offered this service have pretty solid constraints on the filtering of health information. This risk is balanced out by the possibility that you might discover something concerning, like a predisposition to Type 2 diabetes, and still have time to do something about it."

DNA testing for genealogical purposes can open up new vistas in your self-identity and your self-awareness.

"Typically, in the conversations I have, members that use AncestryDNA want to find the uniqueness of themselves. That's really fun. I had a similar experience when I took the test. None of my German ancestors showed up in West Europe. I had tested my mom, and it showed up in her results. I thought, 'Wow, I think I got cheated!' I did a little family experiment, and I tested my three sisters. Every single one of them got it but me.

"Which makes it fun (and) which makes DNA this unique tool to help us understand a little bit about ourselves and our families."


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