As she swabbed the inside of his cheek, Patt Heise assured her 84-year-old father that she wasn’t crazy, just curious.
She mailed off the saliva sample and waited for results. Her dad died a month later, too early to find out what DNA testing had revealed – a list of potential relatives from all over the world and a migration chart dating back to Adam.
That would be “Genetic Adam,” who lived between 70,000 and 140,000 years ago in Africa, scientists believe.
“People are really into genealogy or they think you are crazy and wasting your time,” said Heise, 61, of Palatine, Ill., who acknowledges she is overwhelmed by the information but eager to use it to fill in her family tree.
“I really would like to see a book on ‘DNA for Dummies.’ ”
Genetic testing for genealogists has gone mainstream, with costs plummeting as private companies refine their techniques and improve the accuracy of results. For as little as $99, anyone can order a do-it-yourself kit that comes in the mail, then submit spit for analysis and receive results within six weeks.
Genealogy hobbyists liken the quest to track their family tree to a scavenger hunt, laden with clues, surprises and dead ends. For some, a snippet of genetic material has helped confirm a specific family tie or provide new leads when a paper trail has run cold. Others have blown up ancestral land mines along the way, shredding oft-repeated family stories or, as in Heise’s case, discovering a notorious distant relative.
“I found out I was related to Charles Manson – eeewww,” she said.
Recently, scientists used the technology to confirm the identity of a skeleton buried beneath a parking lot in Leicester, England, as King Richard III, who died in battle in 1485. The scientists matched the bones to two living maternal-line relatives, according to the University of Leicester, which conducted the analysis along with radiocarbon dating and a skeletal exam.
The search for identity
Closer to home, not everyone is excited about the DNA technology, as some remain cautious about privacy or simply don’t see the need, such as Heise’s dad. But for others who are adopted or are trying to explain a gap in their family tree, the tests may provide a crucial breakthrough, experts said.
“I think a lot of people find it of use to them, personally, especially if they are searching for a form of identity they are able to uncover in this way,” said Noah Rosenberg, associate professor at Stanford University’s Department of Biology and expert in evolutionary biology and genetics.
“Many people have a missing relative or have a parent die young and are searching for some kind of connection,” he said. “We see a significant trend where African-Americans are searching for some understanding of the populations from which their ancestors originated from Africa.”
There are no federal regulations that govern the direct-to-consumer ancestry tests, said Hank Greely, a Stanford law professor who specializes in the ethical, legal and social implications of new biomedical technologies.
“Basically, both state and federal regulation only cover tests sold or done for health purposes,” Greely wrote in an emailed response to questions.
“I would note that various false advertising statutes and regulations could be applied to genealogical testing – and, frankly, I think some of the sites are not always very clear about what they can and cannot detect.”
Growing number of matches
Meanwhile, as more people contribute their own DNA to the mix, the pool of potential genetic matches grows. Private companies store the saliva samples and promise more information in years to come – for additional fees – as technology improves.
Drawing from the large databases, scientists have been able to determine where groups of people who share matching threads of DNA probably came from and where they migrated.
Early on, the DNA tests used in genealogy were limited to studying the male’s Y chromosome, which is transmitted from father to son going back generations. The maternal line is traced in a different test, which looks at the mitochondrial DNA, known as mtDNA, which a mother passes to her children.
More recently, Ancestry.com began offering a full genome – or “autosomal” – test that analyzes all 23 chromosomes at more than 700,000 places. The test provides a more recent snapshot of the maternal and paternal line, experts said.
“It’s like a unique fingerprint that only you have,” said Ken Chahine, senior vice president and general manager of AncestryDNA. “By having that many locations that we can identify, we create a unique signature for you.”
Family Tree DNA, based in Houston, sold about 300 kits when it first offered the service in 2000, President Bennett Greenspan said. Last year, “it was tens of thousands of kits.”
For $219, the test now offers 11 times more information than it did the first year, while increasing the numbers of DNA markers identified, he said. The particular region of the DNA that is analyzed is called a marker. A test that examines more markers can be expected to provide more specific information.
“Over time, you can start doing more and more,” Greenspan said. “If you were to test your mother and your father … you start matching more people, you figure out what line that came from.”
The company has more than 400,000 people in its database, many of whom have discovered common ancestors, he said.
Knowing too much?
The Chicago-based National Society of Genetic Counselors cautions consumers about DNA testing that reveals both ancestral and medical information. The tests can be misleading if left unexplained by a professional counselor, President Rebecca Nagy said.
“One of the biggest drawbacks to these tests is they are only testing for a few genetic markers, and those few markers represent the tip of the iceberg,” Nagy said.
Some people have contacted her office, concerned about results that showed they were at risk of developing cancer or Alzheimer’s disease, while ignoring the bigger medical picture.
“Be prepared for what you learn, and know what questions to ask so you know what the implications might be,” she advised.
In 2007, a company called 23andMe began offering both medical and ancestry information for $999, a spokeswoman said. Today, a more encompassing version costs $99 and promises 250 reports, including ethnic breakdowns and health risks.
“Whatever science can tell you about your DNA, we want to make it available,” said spokeswoman Catherine Afarian, adding that participants can choose not to view their health report.