by Lone Frank
“A gene test?” he says suspiciously.
I assure him that it only involves a vanishingly small part of his total genome and that no one would be able to deduce anything about disease risks or anything else he wants to keep to himself. “No worries, it just involves some insignificant regions of your Y chromosome. And our shared mitochondrial DNA, of course.”
He sounds as though he has tasted something abruptly unpleasant.
“We share DNA?”
LUCKILY, BABY BROTHER is quick to get over his initial shock and turns up to deliver his DNA to me. Packed into his camel-hair Hugo Boss coat and clutching his briefcase tightly, he sits on the edge of an easy chair and rinses his mouth with a green liquid that catches loose cells from his mucous membrane. After the minute and a half the instructions prescribe, he spits it all back into the plastic cup from which it came. I say thank you and apologize for the taste, which truthfully is unpleasant. Then, I press down the lid and put the sample into a little cardboard box, together with the rudimentary family tree I had sketched.
The green cell solution has to journey a long way, to Utah, where it will be entered into a database. Since I couldn’t make use of Bennett Greenspan’s large collection of Ashkenazi Jewish men, I have decided instead to go to the Sorenson Molecular Genealogy Foundation, a non-commercial research foundation that collects DNA from around the world and is actively seeking participants from Denmark. The foundation also boasts of having the world’s largest database of both genetic and genealogical data. There are 107,000 DNA samples collected from volunteer donors from 170 countries, each supplemented by the volunteer’s family tree reaching back four generations, including name, birth date, and birthplace for everyone.
The project has a strange and fascinating history. Its founder was James LeVoy Sorenson, an eccentric who died in 2008, having amassed a fortune through real estate and a long list of medical inventions. Patents on disposable surgical masks and plastic catheters, among other things, catapulted him to forty-seventh place on Forbes magazine’s list of the wealthiest Americans. Without giving up his business empire, Sorenson threw himself into genetic genealogy in the final years of his life.
“It began in the summer of 1999, when I got a call at two o’clock in the morning,” explains Scott Woodward, who is today the head of the foundation. That summer, he was a professor in genetics at Brigham Young University in Salt Lake City, and had achieved some small fame in 1985, as the person who identified the first genetic marker for the lung disease cystic fibrosis.
“Anyway, the telephone rings at two o’clock in the morning,” he repeats with his strikingly monotone voice. “And, as a father of four teenage boys, you take that kind of call.”
Fortunately, it was neither the police nor the emergency ward but just an elderly man who, without much introduction, asked whether Woodward knew anything about DNA. The professor thought he did. Fine, said the man, who then asked how much it would cost to “do Norway’s genome.”
“I was a little flabbergasted and asked what he meant by that, and then Sorenson finally introduced himself and explained that he was calling from Scandinavia. Apparently, he hadn’t thought of the time difference.”
Sorenson was on a tour to find traces of his Norwegian forebears and, since he was used to thinking big, he believed that he might just as well map the entire population of Norway while he was at it. “It sounded insane in the middle of the night, and I was not initially interested,” Woodward says. “But he pressed his case after he came back from his trip and, in the course of few weeks, I could begin to see some interesting scientific questions that could be answered.
“For Sorenson, however, it was a very personal project. He was in his eighties and was searching for a connection between himself and his Norwegian ancestors. Perhaps, he even wanted to find living relatives in Norway.”
I had heard of the Mormons’ notion that you can save long-dead relatives from eternal damnation on Judgment Day by digging their identity out from the darkness of the past. Could that have been what Sorenson wanted?
“Of course, he was a Mormon, but I don’t think it was religiously based,” says Woodward, who becomes thoughtful. “But the project slowly grew larger. Sorenson wanted to collect DNA from every living Norwegian, and I figured it would run to half a billion dollars. ‘You can’t afford it,’ I said, to which he answered: ‘try me.’ I did, and after a two-second pause, he said, ‘half a billion, I can do that.’”
Woodward considered the matter and argued that you could use half a billion dollars better. “Forget Norway,” was the message.
“Let’s collect DNA from people from all over the world. If you get enough people in your database, it will be possible to take two people from just about anywhere and show how they are related and figure out when their last common ancestor lived.”
I can hear Woodward take a deep breath on his mobile phone.
“The idea was that this knowledge would change how people look at each other.”
Now it’s my turn to be silent. Is he telling me that this is an idealistic project to create world peace by showing people that they are genetically related?
“You could say that,” he says without noting my ironic edge. “We have collected blood and genealogical data for ten years now – our ambition is to be able to see kinships here and now and, at the same time, be capable of going, perhaps, five hundred years back in time. In addition – of the more than one hundred thousand DNA samples we have from one hundred and seventy countries, there are also some from Denmark, where I myself have roots.”
That is all fine and good, but I am more interested in how you get all the volunteers for the project.
“We find them mostly by word of mouth. They may be people here in the US or in some other country who have heard about the project or know someone who has and then call to volunteer. We’ve had students organize the collection of samples. The condition for taking part is that the volunteers must be able to provide their family history four generations back, and that has proven to be difficult.”
Most people, like me, could only account for three generations.
“That’s why we have fewer samples than we planned – we could have had a million by now, if people knew their family history better. Oh, well, but as soon as we’ve collected the DNA and the information, our genealogists start searching the archives of different countries to trace people ten to eleven generations back.”
I gasp audibly into the phone. Ten generations back means several hundred years of history and 1024 names. And you can multiply this by the over hundred thousand individuals in the database. Is this at all realistic?
“It is a huge job, but our little staff of twenty employees works like a mule,” Woodward says contentedly. “But it’s up and running now; you can go into the database and look. We have lots of success stories of people who have identified living relatives.”
I’ve been in for a little peek. Sorenson has entered into a partnership with GeneTree, which is one of the many commercial companies through which anyone can buy a test and then compare him-or herself directly with the huge database.
There are quite a few accounts of stubborn amateur genealogists who eventually strike gold. Take the story of the woman from Seattle who found a perfect match for her mitochondrial DNA that led her to a family connection in Mali, which she could research in more detail. Or the incredible account of Mike Hunter’s many-year effort to cast some light on the ancestry of his departed grandfather. In 1981, as Granddad Lindsey was laid into the ground, Hunter set out to confirm the family legend that Lindsey’s mother, who had given him away for adoption as an infant, was a full-blood Indian. Armed with Granddad’s birth certificate, Hunter followed a paper trail that led him to the backwoods of Virginia, and to a marriage registration between Nora and Albert Hunter who, it seems, were Lindsey’s biological parents. The discovery was a bit of a disappointment, because both seemed to be very white, without a trace of Native American blo
od. Yet, it was a bit of a mystery that the two had not married until seven months after little Lindsey’s birth, and there were some folks in the area who thought that Nora had probably been impregnated by someone other than Albert. But now it was 1985, and it was impossible to track any further answers … the paper trail was gone.
Many years later, in 2008, Mike Hunter heard about the wonders of DNA and took up the case again. He volunteered for Sorenson’s project and put his Y chromosome, which was also his Granddad Lindsey’s, into the database, in the hope of finding some long-lost relatives. He looked, naturally enough, among the fourteen families registered under the name of Hunter but found nothing. After some time, however, there was an unexpected hit – a perfect match for the Y chromosome in a family by the name of Bailey, who came from the remote little town in Virginia where Lindsey’s parents had married. Soon Mike Hunter was meeting his new family, the descendants of his real great-grandfather.
“This sort of thing is very gratifying,” says Scott Woodward, a bit unctuously, “but, as I mentioned before, our foremost goal is to change people’s view of each other.”
This goal, he explains, spurred the foundation to go to Israel at one point and arrange a meeting between two women – an Israeli and a Palestinian – both average, ordinary people.
“I remember how the Palestinian, a little worried, whispered to me that she had never been so close to a Jew before,” says Woodward.
I dread what is about to come.
“But we could show them that they share a lot of DNA sequences and were closely related as peoples. This broke the ice between them, and the story actually ends with them becoming personal friends.”
Woodward is starting to sound like an evangelist, and I try to steer the conversation in a more technical direction. I wonder about the size of the future market for genetic genealogy and what the competitive parameters will be.
“A large database is obviously one parameter. But, in fact, I think the absolutely crucial thing will be the capacity and ability to interpret genetic information for customers. It is clear to me that personal genetic information will be an integrated part of our lives in many ways, but most people will have a hard time understanding and using this information. We need some interpreters.”
I REALIZE WHAT Scott Woodward means as soon as I receive my own test report. It is filled with numbers and apparently random combinations of letters, and it makes me feel like I’m trying to decode a foreign language. Fortunately, I have an agreement with Ugo Perego, who heads up the laboratory in Salt Lake City. He has promised to give my chromosomes a thorough going-over. In the meantime, I find that they have tested my brother’s Y chromosome for forty-three markers, each of which consists of a series of repetitions of short DNA sequences. The numbers I could not interpret at first are the number of repetitions of each of the forty-three positions. Unfortunately, the result is not particularly exciting.
“On your paternal side, you and your brother belong to haplogroup I1,” says Perego in his thick Italian accent. This information does not tell me much except that my brother and I are Scandinavian. Haplogroup I1 pretty much only exists in Europe, where it seems to have arisen twenty-eight thousand years ago. Today, about one in three Danish men is I1.
“That’s pretty boring,” I let drop. “But what else could you expect?”
Perego declares his agreement. But then he adds, in a completely different tone: “The good news is that your mitochondrial DNA is definitely not boring.”
Before sharing the results, he runs through an explanation of how mitochondrial DNA is handled during testing. In Sorensen’s lab, the procedure is to sequence 1100 bases from the more than 16,000 of which make up the circular mitochondrial genome. These 1100 bases include some regions where mutations typically occur, and the sequence found in the test is compared to a reference sequence, the Cambridge reference sequence. That sequence was taken from a European woman who belongs to haplogroup H2. From the test, you can state which specific bases are different from the reference, that is, which SNP mutations the subject has compared to haplogroup H2. The more differences, the further you are from the standard, Perego patiently explains over the phone, giving as an example some African haplogroups, which typically exhibit fifteen to twenty differences.
I study my report and discover with a little disappointment that I’m pretty close to the reference. There are only six mutations given.
“Correct. But what mutations! You have a few that are old and quite rare, which means that we can place your haplogroup in a very specific context in relation to the history of human migration.”
I wait while Perego rummages among some papers. Scientific literature, he says.
“First of all, you belong to haplogroup H2a1, which is a subgroup of haplogroup H2. Your subgroup has its origin in the Middle East and the Caucasus, where it arose about ten thousand years ago thanks to a new mutation. This is what we call 16354T in your report.
“A split in the line occurred in the Caucasus, where three branches of H2a1 emigrated, each in its own direction,” he continues. “One branch went south to the Arabian peninsula, a second went to northern China, Russia, and Siberia, while a third ended up in Eastern Europe and, later, Western Europe and finally Scandinavia. In the branch that reached Scandinavia, a new mutation arose later – namely 16.193T – which you also have.”
I check the report, and there it is.
“Would you like to have some numbers?” asks Perego, and I don’t mind if I do. I have to admit he has done his homework.
“Today, H2a1 is found in four percent of the eastern Slavic peoples and about one percent of Estonians and Slovaks. There are even fewer among Scandinavians and, of them, it is far from everyone who has both the 16.354T and 16.193T mutations – the combination of the two, I would say, is very rare.”
I admit I’m deeply interested. And it must be something I can use genealogically – I can take my rare mutations and hound down unknown relatives.
“Well, the names of your forefathers aren’t imprinted in your DNA,” Perego says, a little sharply. “If you want to answer genealogical questions, you have to have a theory about something that can then be illuminated by DNA. You’re thinking of going to public databases and searching for a match, and this can be done, but the problem is that only a small number of those who have been tested are in the databases. So, it’s a fluke if you find something. There are many more success stories in cases where two people who suspect they might be related are tested, so it can be confirmed or disconfirmed.”
“But if I found a perfect match for my mitochondrial DNA,” I persist, “then could you say something about how long ago our last common ancestor lived, or what?”
Ugo Perego lets out a long sigh.
“Because mitochondrial DNA mutates so slowly, a perfect match in itself is no guarantee that you have a common ancestor within the last four hundred years. But if you come from the same geographic region, it may be worth getting in contact through a database and investigating further. You would have to look at your own and the other person’s genealogical data and, in this way, determine whether you could be related. That’s how it works.”
It is somewhat better with the Y chromosome, which mutates more quickly. You can figure that, if two people have a match of thirty-seven markers, there is a fifty percent chance that they share an ancestor within five generations.
“But it could also be seventeen generations, and suddenly it’s very difficult, because you are back in historical times when there were no surnames,” Perego says, sounding as if the conversation is now boring him a bit.
I think of the Spanish soldier who may or may not be in my family tree. If he is not a direct ancestor, even a thorough analysis of my brother’s Y chromosome could not say anything about him. But I’ve heard there is something new on the way.
“Oh, you’re thinking of autosomal analyses,” says Perego, with a little more enthusiasm. Instead of looking at Y chromosomes and mitoc
hondrial DNA, which only show one line of infinitely many, you will be able to see traces of many forefathers and foremothers by analyzing the other chromosomes. Autosomes, as they are called.
“We’re working on it,” says Perego, admitting that the new analyses really should already be accessible. “It has to do with being able to follow sections of chromosomes generations back and, in that way, get a picture of the combinations that occurred. But it is difficult to see which sections come from whom and, if you go farther back than four generations, it becomes a question of statistics. The information they can provide right now is, for example, that a person appears to have ancestry that is seventy percent Eastern European and thirty percent Scandinavian or something along those lines. We actually have a lot of data from our volunteers, but there are some technical challenges that have to do with statistics, and I don’t want to bore you with them.”
But there is something else as well, Perego adds. People are just not ready.
“What we are talking about here is far beyond the capacity of the general public. Generally speaking, most people don’t even know how you search the accessible databases, because they know nothing about mitochondrial DNA or Y chromosomes. The result is that they try once, don’t find anything, and then give up. It’s a waste.”
I can sense he is about to talk about the need for more interpretation and anticipate him.
“Exactly, exactly,” he says, and he relates how the Sorenson foundation established a sort of emergency help line for the genetically challenged. You pay a symbolic sum and get a consultation with a specialist who can explain genetics back from Adam and Eve, so to speak, and who also helps with your searches. They even offer advice before people have been tested.
“These are people who are interested but who don’t know what the different tests can even tell them and they can learn who in the family they should test to get a given piece of information. If I were to be completely honest, genetic genealogy today is a product aimed at the élite, the relatively few who have read up on things and are already well into the basics.”