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History of genetic genealogy

From ISOGG Wiki

Genetic Genealogy Timeline

Genetic genealogy is the application of genetics to traditional genealogy. DNA testing for family historians became available on a commercial basis in the year 2000.

Earliest references

The earliest use of the term genetic genealogy found to date was on 20 February 1989 in an article by Tom Siegfried in the Dallas Morning News entitled "Genetic genealogy and the search for 'Eve":

"In searching for the roots of the human race, scientists have traditionally relied on the fossil records found in ancient rocks. Of course, scientists have long known that we all carry a record of our roots in our genes. It's just that the record in the rocks has been easier to read. Lately, though, practitioners of genetic genealogy have found methods to search for the woman from whom we all are descended. She is popularly known as Eve."[1]

The next recorded reference was in June 1996 when Helene Cincebeaux gave a presentation on the subject of "Genetic Genealogy" at the Federation of East European Family History Societies' conference in June 1996 in Minneapolis.[2]

The first published reference to the use of the term in the context of a surname DNA project was on 9 November 1998 with the publication of an online article entitled "An introduction to genetic genealogy" by the genealogist Alan Savin, who launched the first surname project by a genealogy hobbyist in 1997.[3][4][5][6]


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).[7] He arrived at a figure between 2.25% and 4.5% for cousin-marriage in the population of Great Britain, with the upper classes being on the high end and the general rural population on the low end. (His parents, Charles Darwin and Emma Wedgwood, were first cousins.) This simple study was innovative for its era. The next stimulus toward using genetics to study family history had to wait until the 1990s, when certain locations on the Y chromosome were identified as being useful for tracing male-to-male inheritance.

Dr. Karl Skorecki, a Canadian nephrologist of Ashkenazi parentage, noticed that a Sephardic fellow-congregant who was a Kohen like himself had completely different physical features. According to Jewish tradition, all Kohanim are descended from the priest Aaron, brother of Moses. Skorecki reasoned that if Kohanim were indeed the descendants of only one man, they should have a common set of genetic markers and should perhaps preserve some family resemblance to each other.

To test that hypothesis, he contacted Professor Michael Hammer of the University of Arizona, a researcher in molecular genetics and pioneer in Y chromosome research. Their report in the journal Nature in 1997 sent shockwaves through the worlds of science and religion.[8][9] A particular marker was indeed more likely to be present in Jewish men from the priestly tradition than in the general Jewish population. It was apparently true that a common descent had been strictly preserved for thousands of years.

The first to test the new methodology in general surname research was Bryan Sykes, a molecular biologist at Oxford University. His study of the Sykes surname obtained valid results by looking at only four markers on the male chromosome.[10] It pointed the way to genetics becoming a valuable assistant in the service of genealogy and history.

In May 2000, Family Tree DNA in Houston, Texas, began offering the first genetic genealogy tests to the public. This offering marked the first time that a personal theory on the Y chromosome could be tested outside of an academic study. Additionally, Sykes' concept of a surname study, which by this time had been adopted by several other academic researchers outside of Oxford, was expanded into online surname projects (an early form of social network) and the effort helped spread knowledge gained through testing to interested genealogists worldwide.

In the same month Bryan Sykes launched Oxford Ancestors, based in Oxford, England. The company was launched in anticipation of the expected demand for mitochondrial DNA tests from the publication of Sykes' book The Seven Daughters of Eve, which appeared in the spring of 2001. The book described the seven major mitochondrial DNA haplogroups of European ancestors. In the wake of the book's success, and with the growing availability and affordability of genealogical DNA testing, genetic genealogy as a field began growing 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.[11] The number of firms offering tests, and the number of consumers ordering them, had risen dramatically.[12]

Another milestone in the acceptance of genetic genealogy is the Genographic Project. The Genographic Project is 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. Although its goals are primarily anthropological, not genealogical, the project's sale by October 2007 of more than 225,000 of its public participation testing kits, which test the general public for either twelve STR (short tandem repeat) markers on the Y chromosome or mutations in hypervariable region 1 of mitochondrial DNA, has helped increase the visibility of genetic genealogy.

By 2006 annual sales of genetic genealogical tests for all companies, including the laboratories that support them, were estimated to be in the area of US $60 million.[13]

ISOGG genetic genealogy timeline

". . . it's hard to realize you're living history while it happens . . . . " – quote from private email from Ann P. Turner to Georgia Kinney-Bopp.

The first genetic genealogy timeline was established by ISOGG member and volunteer project administrator Georgia-Kinney Bopp in October 2002 and was maintained up until June 2008 on a Rootsweb website.[14] The aim of the original timeline was to record the achievements of the genetic genealogy pioneers in the context of the key DNA milestones:

This Timeline began when I could not find an informal context - a simple history - to use when called upon to explain the new field of DNA and genealogy to those who knew less about it than I (a beginner in October 2002 - and not a scientist). This contains items I've found as well as contributions by others, primarily Ann P. Turner and participants of the RootsWeb GENEALOGY-DNA discussion list and members of the ISOGG community. The emphasis here is on "traditional" genealogy - rather than "anthrogenealogy". The Timeline also attempts to record the contributions of pioneer genetic genealogy hobbyists who helped make this field respectable before it was accepted by the mainstream genealogy community. A few key DNA milestones not directly related to traditional genealogy are included in the Timeline. Georgia Kinney-Bopp

The timeline was transferred to the ISOGG Wiki in August 2010, with permission from Georgia Kinney-Bopp. The ISOGG timeline is intended to maintain the spirit of Georgia's original concept, but has been expanded to include developments from 2008 onwards, and to incorporate additional relevant material for the previous years.

Related timelines

  • Y-chromosome marker timeline 1992-2002 From a presentation by John Butler. Note from Ann P Turner: "The very first test that was developed found absolutely no differences in samples gathered around the world, and it was thought that the Y chromosome wouldn't be very useful for genealogical or evolutionary studies".
  • Timeline of the History of Genetics From a genetics course syllabus at Davidson College, North Carolina. Begins with Mendel and has genetics history links.
  • Genetic and Genomics Timeline From the Genome News Network
  • ThinkQuest timeline Begins with the microscope and ends with cloning. The Timeline-related links contain citations. (Broken link)
  • History of Genetics Timeline Compiled by Jo Ann Lane of Access Excellence. Begins with Darwin and concludes with FlavrSavr. tomatoes
  • DNA Timeline from Santa Monica College Mendel to genome sequence; includes sketches of Mendel, OJ, Dolly the Sheep, Monica and Bill, and more! But keep scrolling because it's less tacky than you think . . . .

Miscellaneous notes

When first used for parentage/paternity testing? "progeny testing" is another term although tends to apply to (non-human) animals.

May belong on list: Thompson, E. A. (2000) Statistical Inference from Genetic Data on Pedigrees Institute of Mathematical Statistics.

  • PubMed Search on some of the key words, view the abstract, and click on the link to the publisher. Other useful links are on the abstract page are Related Articles, and the word Links. If you click on that and select Books, the abstract is displayed again with many terms underlined, linked to sections of textbooks. This is a valuable technique for lots of research.

For those of us who get our "science" info from PBS (search on DNA)


  1. 'All About Eve' - Genetic history Orlando Sentinal article collections
  2. 1996 conference schedule for the The Federation of East European Family History Societies, Minneapolis, June 1996
  3. An introduction to Genetic Genealogy, by Alan Savin, 9 November 1998.
  4. Genetic Codes Unraveled: New Clues to Human History. Ancestry magazine, January/February 2000.
  5. Savin Y chromosome project synopsis
  6. Alan Savin. DNA for Family Historians. Privately printed, 2000.
  7. George H. Darwin, "Note on the Marriages of First Cousins", Journal of the Statistical Society of London 38:3 (Sep., 1875), pp. 344-348.
  8. Y chromosomes of Jewish priestsReprint of Nature letter on Family Tree DNA website.
  9. K Skorecki, S Selig, S Blazer, R Bradman,N Bradman, P J Waburton, M Ismajlowicz M and M F Hammer. Y chromosome of Jewish priests. Nature 385, 32 (2 January 1997).
  10. Bryan Sykes and Catherine Irven. Surnames and the Y Chromosome. American Journal of Human Genetics, April 2000, Vol 66, issue 4, pp1417–1419.
  11. Mark Jobling and Chris Tyler-Smith. The human Y chromosome: an evolutionary marker comes of age. Nature Reviews Genetics, 2003, Volume 4, pp599-612.
  12. Guido Deboeck, "Genetic Genealogy Becomes Mainstream", BellaOnline.
  13. "How Big Is the Genetic Genealogy Market?", The Genetic Genealogist, November 2006.
  14. DNA genealogy timeline compiled by Georgia Kinney-Bopp (copy of website preserved in the Internet Archive on 26 January 2017)