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Dick Eastman Online
10/2/2002 - Archive


ANCESTRYbyDNA
The following was written by Ann Turner, the GENEALOGY-DNA List Administrator. Ann kindly gave me permission to republish her words here.

My AOL automated news search (key word DNA) picked up a Business Wire press release this morning from DNAPrint Genomics. They are offering a new DNA testing service, which they term "recreational genomics." Their test involves hundreds of SNPs (Single Nucleotide Polymorphisms) scattered throughout the genome. They are using a set of SNPs, which seem to have characteristic values for different populations around the world. By this method, they propose to analyze proportions of your "BioGeographical Ancestry" (BGA) which came from those populations.

Note that this is not "GENEALOGYbyDNA," where we are attempting to forge links between specific individuals. It will be a statistical assessment of contributions to your total ancestry. Two siblings will inherit a different set of SNPs from their parents, and any given SNP could have come from any of your distant ancestors. Conversely, you may not have any SNPs at all from a specific ancestor who lived a number of generations ago. Thus if you believe that your great-great-great-great-great-grandmother was Native American, you might not have inherited the SNPs that could demonstrate that (but maybe your sibling or a cousins did). As you can tell already, this method requires a lot of statistical inference, even more than we use already for MRCAs on the Y-chromosome.

I have been anticipating the arrival of methods like these, which is one of the reasons I recommend preservation of DNA samples from as many family members as possible with my DNA Filer kit. Each person will have a unique set of SNPs which reflect different chapters of the ancestral story.

I have not yet had time to digest all the material on the ANCESTRYbyDNA website, but I wanted to alert you to this new approach. In the interests of full disclosure, I have a small financial interest in this company. I purchased some DNAP stock last March (before I had any clues about the ANCESTRYbyDNA product) because of my interest in their technology. DNAP has patented a method for predicting eye color from the multiple genes responsible. It is a penny stock, and I have lost more than half of my initial investment of $75. But I get their annual report .

Here is an abbreviated version of the press release that Ann mentioned:

DNAPrint Launches ANCESTRYbyDNA 2.0 World's First Recreational Genomics Testing Service

SARASOTA, Fla.—(BUSINESS WIRE)—Sept. 19, 2002—DNAPrint genomics, Inc. (OTCBB:DNAP) today announced that it has launched what it believes to be the world's first recreational genomics testing service. The service is the first to provide the everyday consumer the opportunity for introspection from his or her own genome sequence, and as such, it is expected to become a trailblazer in the newly forming consumer genomics marketplace.

ANCESTRYbyDNA 2.0 will scan the genome for customers in order to determine their BioGeographical Ancestry (BGA) or ancestral proportions. The test is powered by DNAPrint's ANCESTRY panel of proprietary Single Nucleotide Polymorphisms (SNPs), and reveals the proportional extent to which a customer is of European, Native American, African, East Asian, South/Middle Asian and/or Pacific Islander genetic heritage. Making such determinations by eye is unreliable, and from family records tedious and inexact, but recent human genome research by DNAPrint's scientists and Dr. Mark Shriver of The Pennsylvania State University (PSU) have shown that biological ancestry proportions are clearly written in the DNA and extractable with certain mathematical algorithms. Some of the underlying science supporting the test has been published over the last three years by both labs (Parra et al.1; Pfaff et al. 2; Parra et al., 3 and Frudakis et al. 4).

Until today, two types of genetic tests have been available for the study of human heredity. Both the Y-chromosome and mitochondrial tests are simple tests best suited for revealing that relation exists between two specific individuals, such as daughter and grandmother. In contrast, ANCESTRYbyDNA 2.0 is a significantly more complex test that queries hundreds of Single Nucleotide Polymorphisms (SNPs) spread throughout the human genome. Using proprietary algorithms and database resources, this sequence information is summarized for each customer by plotting their heredity along "A Multi-Dimensional Continuum of Ancestry"(TM), thereby allowing for a calculation of ancestral proportions (such as 90% European, 10 percent African or some other ratio, as the case may be). In a recently filmed BBC interview, Dr. Shriver relates that he is ostensibly of European ancestry, yet he was surprised to learn from the test that his ancestral proportions are in fact 63 percent European, 27 percent African and 10 percent Native American. Pilot studies on populations have shown that the test produces results that are in general agreement with what is known from the anthropological history of the world's various peoples. For example, Africans and Europeans test as of relatively pure ancestry, but the African-American individuals tested are from 70-97% African and 3-30% European ancestry (some with substantial Native American ancestry) and the different Hispanic populations range from of 50-70% European, 30-40% Native American and 0-20% African ancestry, depending on the geographical region. Until the development of the ANCESTRY test earlier this year, the estimation of ancestral proportions from DNA had not been possible.

In addition to serving individuals curious about their ancestry, the testing service has practical implications for certain types of customers. In early August, a customer used an earlier version of the service to help focus a bone marrow donor search for a leukemic child. The child harbored an unusual HLA profile, which made it difficult to match her with a bone marrow donor. In this case, the family was apparently of European heritage, but the unusual HLA profile suggested the family was of mixed heritage. The test confirmed this to be the case, and the knowledge gained is expected to allow the family members to focus their search towards the appropriate admixed group. Another early customer in Utah used the test to demonstrate that he was of Native American heritage in an effort to validate his entitlement to participate in business ventures reserved for Native Americans. Other early customers have included university researchers who desired to qualify ancestral proportions for study samples, and the test would be appropriate for the adopted or for genealogists who desire to learn about ambiguous regions of their family tree.

DNAPrint scientists are collaborating with Dr. Shriver to develop more advanced versions of ANCESTRYbyDNA that may be useful for discerning regional heritage proportions in individuals. For example, ANCESTRYbyDNA 3.0 is expected to be capable in the near future of determining whether an individual is of Irish/British, Middle European (French, German), Scandinavian, Mediterranean (Italian, Greek, Spanish) or Eastern European heritage as well as of Western/Central versus East African heritage or of Japanese, Chinese or Korean heritage. For more information about the ANCESTRYbyDNA 2.0 service please visit www.ancestrybydna.com.

The press release goes on at some length, giving a background of the company plus references to several articles mentioned in the press release. I’m abbreviating it for this newsletter. Anyone interested can read it in its entirety of the GENEALOGY-DNA mailing list.

I’d like to thank Ann Turner for sending the press release and for her excellent introductory comments. Ann is the administrator for the GENEALOGY-DNA mailing list, a great resource for people who would like to discuss DNA use within genealogy. You can subscribe to the free mailing list here.

To discuss this story further, I would suggest you post messages on the GENEALOGY-DNA mailing list.

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