Genetic genealogy is the application of genetics to traditional genealogy. Genetic genealogy involves the use of genealogical DNA testing to determine the level and type of the genetic relationship between individuals. This application of genetics became popular with family historians in the first decade of the 21st century, as tests became affordable. The tests have been promoted by amateur groups, such as surname study groups, or regional genealogical groups, as well as research projects such as the genographic project. As of 2013 hundreds of thousands of people had been tested. As this field has developed, the aims of practitioners broadened, with many seeking knowledge of their ancestry beyond the recent centuries for which traditional pedigrees can be constructed.

The investigation of surnames in genetics can be said to go back to George Darwin, a son of Charles Darwin. In 1875, George Darwin used surnames to estimate the frequency of first-cousin marriages and calculated the expected incidence of marriage between people of the same surname (isonymy). He arrived at a figure between 2.25% and 4.5% for cousin-marriage in the population of Great Britain, higher among the upper classes and lower among the general rural population.[1]

Origin of peoples in a context of DNA genealogy is an assignment of each of them to a particular tribe or its branch (lineage) initiated in a genealogical sense by a particular ancestor who had a base (ancestral) haplotype. This also includes an estimation of a time span between the common ancestor and its current descendants. If information obtained this way can be presented in a historical context and supported, even arguably, by other independent archeological, linguistic, historical, ethnographic, anthropological and other related considerations, this can be called a success.[2] Just in the last 20 years scientists began to use Y-Chromosome markers and Mt-Chromosome markers, to provide evidence of common ancestry between individuals with a tradition of common ancestry. Two notable studies showed common heritage between men from Cohen Jewish lineages.[3]

One famous study examined the lineage of descendants of Thomas Jeffersons paternal line and male lineage descendants of the freed slave, Sally Hemmings.[4]

Bryan Sykes, a molecular biologist at Oxford University tested the new methodology in general surname research. His study of the Sykes surname obtained results by looking at four STR markers on the male chromosome. It pointed the way to genetics becoming a valuable assistant in the service of genealogy and history.[5]

The first company to provide direct-to-consumer genetic DNA testing was the now defunct GeneTree. However, it did not offer multi-generational genealogy tests. In fall 2001, GeneTree sold its assets to Salt Lake City-based Sorenson Molecular Genealogy Foundation (SMGF) which originated in 1999.[6] While in operation, SMGF provided free Y-Chromosome and mitochondrial DNA tests to thousands.[7] Later, GeneTree returned to genetic testing for genealogy in conjunction with the Sorenson parent company and eventually was part of the assets acquired in the Ancestry.com buyout of SMGF.[8]

In 2000, Family Tree DNA, founded by Bennett Greenspan and Max Blankfeld, was the first company dedicated to direct-to-consumer testing for genealogy research. They initially offered eleven marker Y-Chromosome STR tests and HVR1 mitochondrial DNA tests. They originally tested in partnership with the University of Arizona.[9][10][11][12][13][14][15]

The publication of Sykes The Seven Daughters of Eve in 2001, which described the seven major haplogroups of European ancestors, helped push personal ancestry testing through DNA tests into wide public notice. With the growing availability and affordability of genealogical DNA testing, genetic genealogy as a field grew rapidly. By 2003, the field of DNA testing of surnames was declared officially to have arrived in an article by Jobling and Tyler-Smith in Nature Reviews Genetics.[16] The number of firms offering tests, and the number of consumers ordering them, rose dramatically.[17]

The original Genographic Project was a five-year research study launched in 2005 by the National Geographic Society and IBM, in partnership with the University of Arizona and Family Tree DNA. Its goals were primarily anthropological. The project announced that by April 2010 it had sold more than 350,000 of its public participation testing kits, which test the general public for either twelve STR markers on the Y-Chromosome or mutations on the HVR1 region of the mtDNA.[18]

In 2007, annual sales of genetic genealogical tests for all companies, including the laboratories that support them, were estimated to be in the area of $60 million (2006).[7]

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