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Andrew Locke  /  MSNBC.com
Alan Boyle prepares to take a DNA test.
By Alan Boyle Science editor
msnbc.com

I clutched the phone and started the trans-Atlantic countdown: Thanks to a mail-order DNA test, I was about to find out whether my Irish “cousin” was really my cousin. On the other end of the call was my cousin’s fiancée, who read off 10 numbers while I compared them. The first number? Check. The second? Check. So far, so good.

My quest was coming to a climax after four years of researching my Boyle family tree. Since 1997, I’ve traced scores of relatives, living and long-gone — but the trail hit a dead end three generations back.

My great-grandfather, Michael Boyle, fled Ireland’s County Clare for America in 1847, during the depths of Ireland’s potato famine. He left no records that could point to his precise birthplace or his kin. He did, however, leave behind an enduring clue: his genetic code.

A specific section of his DNA, passed down from father to son, could confirm whether I was right on my guesses about a common ancestry with Boyles who still live in County Clare. So I became a genetic genealogist, using a technology that is transforming one of America’s most popular pursuits.

How it works
DNA tests have been around for many years, but it’s been only in the last year or so that ordinary people could get their own genetic family profile for less than $300 a test.

The home test kit can be ordered through the mail or over the Internet. It comes with a scraper or brush to scrub a sample of cells from the inside of your cheek.

You send back the sample, along with your check and the release forms. Within a month or two, you get the results in the mail: a series of numbers that represent key chemical “markers” within your DNA, displayed on a form suitable for framing.

One type of test traces your maternal line, based on slight variations in mitochondrial DNA. This brand of DNA changes very slowly, which means it’s of limited usefulness for genealogical purposes. The best you can do is determine your ancestral “clan” from a couple of dozen around the world.

Another type traces the paternal line through Y-chromosome DNA, which is passed down from father to son. This test can be conducted only on males, and taken in isolation, the results don’t tell you much. But two sets of results can be used to estimate your chances of being related to someone else on a scale of hundreds of years. (An interactive graphic titled “Genetic Fingerprints” provides additional detail.)

In 1998, such a test indicated that Thomas Jefferson or one of his relatives fathered at least one child born to a slave at Jefferson’s Monticello estate. Last summer, I used the same kind of Y-chromosome test in my own family search.

Time of testing

My case was a good candidate: My research led me to the coastal town of Quilty, where almost half of the county’s recorded Boyles lived in the mid-1800s. One family there had a string of Boyles named Austin — which was a common name in my family as well. Internet contacts, phone calls and a visit to Ireland in 1999 solidified my connection with this family, which had relatives spread across the globe.

Image: Austin and Martin O'Boyle
Austin Boyle, at left, lives in England. His cousin, Martin O'Boyle, at right, lives in Australia.
I made contact with one of the Austins in London over the phone, and he played host to my daughter for an afternoon during her first trip to Europe. Austin’s long-lost Australian cousin, Martin O’Boyle, sent me a history of the Quilty area.

In July, Martin and Austin agreed to be tested at MSNBC’s expense — with Martin taking a mail-order test from Houston-based Family Tree DNA, and Austin taking a similar test from Oxford Ancestors in England. I took the test from both companies, to see how the procedures and the results compared.

Martin and Austin were as intrigued to hear about each other as they were to hear about my DNA project. “I haven’t seen Austin in about 16 years,” Martin marveled.

Austin and his fiancée, Pura Bolea, were taken by the idea that technology could trace a long-hidden relationship to someone across an ocean. “It has that sort of ‘ooh’ effect,” Bolea said, “like a little kid looking for treasure.”

Waiting and learning
The treasure hunt — for genealogists and the companies offering the DNA services — is just beginning. Over the past year, Family Tree DNA and Oxford Ancestors have each amassed a database of more than 2,000 samples.

“The tests have really taken off,” said David Ashworth, chief executive officer of Oxford Ancestors. “There’s been an explosion, to be honest.”

One of Ashworth’s biggest challenges is explaining the limitations of genetic genealogy.

“It can get very complicated, and the average man in the street wants to know yes, no, we have a common ancestor — and you can’t give them that information,” he said.

Instead, you get fuzzy statistics. If two men have identical results on a 12-marker test, they’re almost certainly related, said Bennett Greenspan, founder of Family Tree DNA. But there’s only a 50 percent chance that their common ancestor lived within the past 14.5 generations, or roughly 600 years.

If just one marker is different, that means there has been a change, or mutation, in the Y-chromosome since the common ancestor lived — pointing to a more distant relationship.

“You can expect one mutation. That’s rolling the dice,” said Doug Mumma, a genealogist who has arranged for more than 30 DNA tests of other Mummas. Two variations, however, is “pushing it.” And when three or more markers are different, Mumma considers the person to be unrelated.

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That can come as hard news — particularly if a test indicates that there was an undisclosed adoption or marital infidelity. Mumma came across one such case.

“It’s like someone hitting you in the chest,” he said. “It takes the wind out of you. That’s where you want to keep confidentiality, particularly if your parents or grandparents are still living.”

Vicki Michel, a law professor and bioethics consultant, says that’s one of the risks of genetic genealogy — even for Austin, Martin and me.

“Suppose that you had created a relationship with these people. If you all connected and felt like family, would that all disappear if it turned out that you weren’t genetically connected?” Michel asked. “Or do relationships have to do with a history of being together, of sharing experiences?”

Genetic testing poses a “big unknown” for family relationships, Michel said.

“I don’t think there’s anything wrong with exploring the unknown,” she told me, “but I think it’s important for people to be aware that when you go into the unknown, sometimes you like what happens, and sometimes you don’t.”

It was a sobering thought, even as I waited for the results from my own project.

Moment of truth
The white envelope from Oxford Ancestors came back in early September. Over the weekend, I studied the numbers and pored through pages of scientific explanations. The following Monday, I picked up the phone and called Austin in London. He was away at work, but Bolea pulled out the results from his white envelope.

Image: DNA chart
After a DNA specimen is tested, Oxford Ancestors provides a color-coded chart of 10 genetic markers within the Y-chromosome, as shown in this sample.
The first two numbers — 14 and 12 — matched. The third was different: 25 for Austin, 24 for me. That’s OK, I thought. It’s a roll of the dice.

The fourth numbers were the same. We were back on track.

Then Bolea read off the fifth number. No match. The sixth number. No match. The rest of the numbers were identical, but by then I felt as if I had missed the lottery. “There might be a distant relationship,” I told her wanly. I promised to call back and discuss the results further with Austin.

That was Sept. 10. The next day, four airliners were hijacked, the World Trade Center collapsed and the world changed. It was months before I got back to Austin.

When I had time to muse about the DNA results, I wondered if three mismatches out of 10 was really that bad. But on Sept. 19, I received the confirmation in an e-mail from Bennett Greenspan at Family Tree DNA, who compared my results with Martin’s.

“He and you did not match,” he wrote. The full list of numbers showed that five of the 12 markers were different. Based on those readings, I had more in common with Doug Mumma than with Martin O’Boyle.

Austin and Martin clearly were descended from a different strain of Boyles. Even though we knew each other only through telephone lines and the Internet, I felt as if there had been a divorce or a death in the family.

Then came consolation.

Revisiting the relatives
After the holidays, I finally got back to Austin and Martin. When I discussed the results with Austin, the first thing he asked was, “Are you sure?”

He noted that his grandmother as well as his grandfather was a Boyle, and that the line of relationship might go through the grandmother’s side. There were male cousins on that branch who might be willing to take the DNA test. And if that lead didn’t pan out, there were plenty more Boyles to go, he said.

“Even when I was growing up, the amount of Boyle families (in Quilty) that were not related was six or seven,” he offered.

Then Austin asked about Martin and his family: Where exactly does he live? Was Martin’s brother still alive? When I got in touch with Martin on the other side of the world, he had questions as well: Were there any maps of County Clare on the Internet? Does Austin use e-mail?

So I’ve found myself drawn into a circle despite the DNA results. Austin is helping me get in touch with other Boyles in America and Ireland. I’ve sent Martin pointers to Clare-related Web sites, and I’m helping the two long-separated cousins stay in closer touch.

After all, isn’t that what families are for?

© 2013 msnbc.com Reprints

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