Ever wondered whether you're related to the Biblical figure Aaron? (I mean, who hasn't?) With improvements in modern technology, the company Family Tree DNA and others like it now offer several different kinds of genetic tests to help you answer this type of question. Surprisingly specific, their tests range from the "Cohanim test," used to identify Jews genetically linked to Aaron, to tests that can determine one's siblingship or ethnic-geographic origins. Family Tree DNA can trace the lineage of ethnic groups as far back as 20 generations, more in some instances.
You can order specific DNA testing packages from privately owned companies like Family Tree DNA or iGenea, either for yourself or as a gift for someone else. The testing company then mails the customer a kit containing swabs (for performing a cheek swab, technically called a buccal swab) and a test tube for the saliva sample. The tests cost about $300 or less, depending on which test you order. Generally, it takes only seven weeks to get the results back after sending in the sample kit.
NUTS AND BOLTS
A genealogical test works by studying the nucleotides at strategic locations on someone's DNA. The DNA sequences of any two individuals will be 99.5 percent the same, even if the two people are unrelated. In order to trace differences and string together genealogical family trees, scientists look at those few places in people's DNA sequences where there is possibility for variation. One of these places where differences occur is called a single nucleotide polymorphism, and the variation in genetic sequence that appear there define genetic alleles.
Everyone has two pairs of 23 chromosomes, which contain short tandem repeats (STRs), or repeating sequences of nucleotides used in applications like genealogical testing and forensic fingerprinting. The number of STR repetitions helps determine alleles and differs among individuals, so genealogical firms can look at STR repetitions to determine a person's ancestry.
Family Tree DNA, like most genealogical testing firms, offers two kinds of tests: mtDNA (mitochondrial DNA) and Y chromosome DNA, although Y chromosome DNA is more typically used and is for males only. What makes a Y chromosome so useful to genealogists is the fact that each man has only one copy of it; when he goes to pass on his genes, the Y chromosome stays remarkably similar between a father and son. In looking at an individual's Y chromosome DNA, genealogists categorize the STRs on the Y chromosome by giving the STRs certain numbers (DYS numbers, or DNA Y-chromosome Segment numbers). These DYS numbers are the basis for what genealogists call the personal haplotype, which they use to chart out the allele frequency for a specific individual. Services like the ones offered by Family Tree DNA then compare these haplotype results to link individuals with their ancestors.
WHO'S YOUR DADDY?
Created in 1999 by Bennet Greenspan, a real estate broker from Houston, TX, Family Tree DNA now claims to have more genealogy data than all the other competing databases combined. The company can trace lineage only from male to male or female to female, so a woman interested in her paternal roots may have to go through a cousin or male relative to get that information.
According to Genetic Engineering and Scientific News magazine, there are now 1,200 genetic tests available on the market (of which only 12 are regulated by the FDA) and 300 other ones that are used for research purposes only, and the number of genetic tests available to consumers is predicted to increase at a rate of 25 percent per year.
One remarkably specific test offered by Family Tree DNA and DNA Testing Systems is Melungeon genealogical testing, which is used to identify people whose ethnic background comprises European, African and a small number of Native American ancestors. Developed in 2000 by Dr. Kevin Jones, Melungeon testing delivers information about people that was previously unthinkable in scope and accuracy.
Celebrities are also beginning to use genetic testing in growing numbers. When Oprah had a genealogy test done in 2005, she traced her ancestry back to the Kpelle tribe in Liberia. Michelle Obama told the Washington Post of her own experience with genealogical DNA testing: "A lot of times these stories get buried, because sometimes the pain of them makes it hard to want to remember... You have to understand it, and I think a lot of us just don't have an opportunity to understand it--but it's there." And then there are celebrities like the late Anna Nicole Smith who wasn't sure who the father of her child was; paternity DNA testing was the final verdict on the true identity of her daughter's biological father in a case that would determine who gained custody of the child after Smith's death in 2007.
PRIVY TO PRIVACY MATTERS
The way Family Tree DNA collects and compares data among clients is similar to the kind of P2P sharing system that programs like Napster introduced at the turn of the century. Once you enter your data into the genealogical data system, any other relatives who happen to enter afterwards will be notified that there is a blood-related match in the data system. It's a little bit like going online and seeing who else out there has that one super rare song you've been wanting to download for years. Genetic testing companies also offer direct to consumer (DTC) testing, which includes screening for breast cancer alleles and for genetic indicators of cystic fibrosis.
Because the 'patient' is not required to go through a medical professional in order to get the test done, DTC testing has been with some controversy, according to Dr. Karen Norrgard in a recent article from the journal Nature Education. An important question arises: What are the privacy concerns when the testing occurs outside the doctor's office? Databases like Family Tree DNA are careful with the information they collect because it is arguably the most personal information anyone will ever have on a person, ever. According to their website, Family Tree DNA has a "double safety net" system whereby Arizona Research Labs at the University of Arizona have the physical DNA samples matched to a certain number, but not individuals' names. Family Tree DNA has the database that matches people's names with their numbers, but not the actual DNA samples. The lab does, however, keep patients' samples for 25 years after receiving them.
As with any technology involved so closely with family relationships, there is a good amount of potential for drama. According to the Family Tree DNA company FAQ page, customers face a two to five percent chance per generation that infidelity within the family or unreported adoptions will make it impossible for someone to find a match. To discover an unreported adoption or a secret affair could potentially tear families apart, alienate relatives or call into question legal rights, such as those that might come up when, say, a wealthy person dies and had written in his will that his estate was to be divided among his relatives.
One strange thing about some of these companies is they allow you to have a kit sent to one address and the results sent to another. For example, imagine how in countries without regulatory, anti-discrimination laws like those in the United States, hiring practices could be affected by genealogical DNA testing. Perhaps part of the job application would involve DNA testing, with results sent back to the company for proof. The technology may be new, but it is not confined to liberal democratic societies, and it will inevitably spread to these parts of the world.
But of course, all this matters only if the results are indeed reliable. Dr. Diane Allingham told Genetic Engineering and Scientific News in April 2008 that, "Many of the genetic tests offered today have little or no evidence of clinically proven value. Moreover, the regulatory infrastructure to apply due diligence on the utility and validity of these tests is largely nonfunctional or nonexistent." Because there is so little oversight from the US federal government in this industry, just about anyone can create a genetic test and sell it to consumers. Additionally, there currently are no laboratory standards set for genealogical testing facilities by the Clinical Laboratories Improvement Amendments, the body responsible for setting accuracy standards in US laboratories.
INTERNATIONAL MAPPING PROJECTS
There are DNA mapping projects, however, that go beyond private firms like Family Tree DNA. By 2003, the Human Genome Project had completed its goal of determining the order of all four components of DNA (represented by the letters A, T, C and G), work that has proved an invaluable tool for other geneticists. The International HapMap Project is another genetic mapping group and is currently working with private companies as well as academic researchers and non-profit biomedical groups to see how genes vary from individual to individual. According to HapMap's website, the difference between their work and private DNA tests is that theirs is designed to help biomedical researchers determine how certain genes are linked with genetically inherited diseases, such as "cancer, stroke, heart disease, diabetes, depression, and asthma." The project is a collaboration among scientists from many different countries, including Japan, the United Kingdom, Canada, China, Nigeria and the US. As they gather it, all the information collected is made available to the public; right now, they have data on genotypes, allele frequencies and information on mtDNA and Y-chromosome haplogroups.
Private companies, by contrast, are much less involved in medical diagnoses and projections. On the FAQ page for Family Tree DNA, one person asked: "If the marker analysis shows that I carry a problematic gene, will I be informed?" Their answer? "No. We won't know if you show positive for a disease, as we are only testing your DNA to look at 12, 25 or 37 specific loci on the Y Chromosome." Still, if you want to know whether you're related to the descendants of Aaron or whether you've got Melungeon ancestors, private genealogical DNA testing can tell you.
In time, technological improvements should make these sorts of tests cheaper and available to more people, connecting more and more people with blood relatives they may never have met otherwise. Think of it as a scientific "people you may know" application; you put in your information and they hook you up with long lost family members. In the most intimate ways, the modern world has and will continue to become inexorably connected, and not just through the internet and other communications technologies.
My own grandfather, whom I always knew to be 100 percent Czech, recently discovered his Jewish Ashkenazi roots when we ran out of birthday ideas for him (at 87, it's all been done before) and decided to buy him a testing kit from Family Tree DNA. Who would have known, he has a living relative in Canada whom he's never met before, but will, of course, meet soon.
ERIN SCHIKOWSKI B'11 gives a shout-out to all you Ashkenazim!