Genetic genealogy is the use of DNA testing in combination with traditional genealogical methods to infer relationships between individuals and find ancestors. 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 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 2019, 26 million 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.
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.
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. While in operation, SMGF provided free Y-Chromosome and mitochondrial DNA tests to thousands. 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.
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.
By 2019, the four largest DNA genealogy companies had 26 million profiles. GEDmatch said about half of their profiles were American.
The genetic genealogy revolution
The publication of The Seven Daughters of Eve by Sykes 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. The number of firms offering tests, and the number of consumers ordering them, rose dramatically. In 2018 a paper in Science Magazine estimated that a DNA genealogy search on anybody of European descent would result in a third cousin or closer match 60% of the time.
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.
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.
The phase of the project in 2016 was Geno 2.0 Next Generation. As of 2018, almost one-million participants in over 140 countries have joined the project.
Typical customers and interest groups
Genetic genealogy has enabled groups of people to trace their ancestry even though they are not able to use conventional genealogical techniques. This may be because they do not know one or both of their birth parents or because conventional genealogical records have been lost, destroyed or never existed. These groups include adoptees, foundlings, Holocaust survivors, GI babies, child migrants, descendants of children from orphan trains and people with slave ancestry.
The earliest test takers were customers most often those who started with a Y-Chromosome test to determine their father's paternal ancestry. These men often took part in surname projects. The first phase of the Genographic project brought new participants into genetic genealogy. Those who tested were as likely to be interested in direct maternal heritage as their paternal. The number of those taking mtDNA tests increased. The introduction of autosomal SNP tests based on microarray chip technology changed the demographics. Women were as likely as men to test themselves.
In 2007, 23andMe was the first major company to begin offering a test of the autosome. This is the DNA excluding the Y-chromosomes and mitochondria. It is inherited from all ancestors in recent generations and so can be used to match with other testers who may be related. Later on, companies were also able to use this data to estimate how much of each ethnicity a customer has. FamilyTreeDNA entered this market in 2010, and AncestryDNA in 2012. Since then the number of DNA tests has expanded rapidly. By 2019, the combined totals of customers at the four largest companies was 26 million. By 2018 autosomal testing had the dominant type of genealogical DNA test, and for many companies the only test they offered.
mtDNA testing involves sequencing at least part of the mitochondria. The mitochondria is inherited from mother to child, and so can reveal information about the direct maternal line. When two individuals have matching or near mitochondria, is can be projected that they share a common maternal-line ancestor at some point in the recent past.
Y-Chromosome DNA (Y-DNA) testing involves short tandem repeat (STR) and, sometimes, single nucleotide polymorphism (SNP) testing of the Y-Chromosome. The Y-Chromosome is present only in males and only reveals information on the strict-paternal line. As with the mitochondria, close matches with individuals indicate a recent common ancestor. Because surnames in many cultures are transmitted down the paternal line, this testing is often used by Surname DNA Projects.
A common component of many autosomal tests is a prediction of biogeographical origin. The company offering the test uses computer algorithms and calculations to make a prediction of what percentage of an individual's DNA comes from particular ancestral groups. A typical number of populations is at least 20. Despite this aspect of the tests being heavily promoted and advertised, many genetic genealogists have warned consumers that the results may be inaccurate, and at best are only approximate.
Modern DNA sequencing has identified various ancestral components in contemporary populations. A number of these genetic elements have West Eurasian origins. They include the following ancestral components, with their geographical hubs and main associated populations:
Main West Eurasian component in the Indian subcontinent. Peaks among Indo-European-speaking caste populations in the northern areas, but also found at significant frequencies among some Dravidian-speaking caste groups. Associated with either the arrival of Indo-European speakers from West Asia or Central Asia between 3,000 and 4,000 years before present, or with the spread of agriculture and West Asian crops beginning around 8,000-9,000 ybp, or with migrations from West Asia in the pre-agricultural period. Contrasted with the indigenous Ancestral South Indian component, which peaks among the OngeAndamanese inhabiting the Andaman Islands.
Main West Eurasian component in the Horn. Roughly equivalent with the Coptic component. Associated with the arrival of Afro-Asiatic speakers in the region during antiquity. Peaks among Cushitic- and Ethiopian Semitic-speaking populations in the northern areas. Diverged from the Maghrebi component around 23,000 ybp, and from the Arabian component about 25,000 ybp. Contrasted with the indigenous Omotic component, which peaks among the Omotic-speaking Ari ironworkers inhabiting southern Ethiopia.
Main West Eurasian component in Europe. Also found at significant frequencies in adjacent geographical areas outside of the continent, in Anatolia, the Caucasus, the Iranian plateau, and parts of the Levant.
Main West Eurasian component in the Near East and Caucasus. Peaks among Druze populations in the Levant. Found amongst local Afro-Asiatic, Indo-European, Caucasus and Turkish speakers alike. Diverged from the European component around 9,100-15,900 ybp, and from the Arabian component about 15,500-23,700 ypb. Also found at significant frequencies in Southern Europe as well as parts of the Arabian peninsula.
Main West Eurasian component in the Maghreb. Peaks among the Berber (non-Arabized) populations in the region. Diverged from the Ethio-Somali/Coptic, Arabian, Levantine and European components prior to the Holocene.
Genealogical DNA testing methods have been used on a longer time scale to trace human migratory patterns. For example, they determined when the first humans came to North America and what path they followed.
For several years, researchers and laboratories from around the world sampled indigenous populations from around the globe in an effort to map historical human migration patterns. The National Geographic Society's Genographic Project aims to map historical human migration patterns by collecting and analyzing DNA samples from over 100,000 people across five continents. The DNA Clans Genetic Ancestry Analysis measures a person's precise genetic connections to indigenous ethnic groups from around the world.
Law enforcement may use genetic genealogy to track down perpetrators of violent crimes such as murder or sexual assault and they may also use it to identify deceased individuals. Initially genetic genealogy sites GEDmatch and Family Tree DNA allowed their databases to be used by law enforcement and DNA technology companies such as Parabon NanoLabs to do DNA testing for violent criminal cases and genetic genealogy research at the request of law enforcement. This investigative, or forensic, genetic genealogy technique became popular after the arrest of the alleged Golden State Killer in 2018. However in May 2019 GEDmatch made their privacy rules more restrictive reducing the incentive for law enforcement agencies to use their site. Other sites such as Ancestry.com and 23andMe have data policies that say that they would not allow their customer data to be used for crime solving without a warrant from law enforcement as they believed it violated users' privacy.
^Belli, Anne (January 18, 2005). "Moneymakers: Bennett Greenspan". Houston Chronicle. Retrieved June 14, 2013. Years of researching his family tree through records and documents revealed roots in Argentina, but he ran out of leads looking for his maternal great-grandfather. After hearing about new genetic testing at the University of Arizona, he persuaded a scientist there to test DNA samples from a known cousin in California and a suspected distant cousin in Buenos Aires. It was a match. But the real find was the idea for Family Tree DNA, which the former film salesman launched in early 2000 to provide the same kind of service for others searching for their ancestors.
^"National Genealogical Society Quarterly". 93 (1–4). National Genealogical Society. 2005: 248. Businessman Bennett Greenspan hoped that the approach used in the Jefferson and Cohen research would help family historians. After reaching a brick wall on his mother's surname, Nitz, he discovered and Argentine researching the same surname. Greenspan enlisted the help of a male Nitz cousin. A scientist involved in the original Cohen investigation tested the Argentine's and Greenspan's cousin's Y chromosomes. Their haplotypes matched perfectly.
^Lomax, John Nova (April 14, 2005). "Who's Your Daddy?". Houston Press. Retrieved June 14, 2013. A real estate developer and entrepreneur, Greenspan has been interested in genealogy since his preteen days.
^Dardashti, Schelly Talalay (March 30, 2008). "When oral history meets genetics". The Jerusalem Post. Retrieved June 14, 2013. Greenspan, born and raised in Omaha, Nebraska, has been interested in genealogy from a very young age; he drew his first family tree at age 11.
^Redmonds, George; King, Turi; Hey, David (2011). Surnames, DNA, and Family History. Oxford: Oxford University Press. p. 196. ISBN9780199582648. The growth of interest in genetic genealogy has inspired a group of individuals outside the academic area who are passionate about the subject and who have an impressive grasp of the research issues. Two focal points for this group are the International Society of Genetic Genealogy and the Journal of Genetic Genealogy. The ISOGG is a non-profit, non-commercial organization that provides resources and maintains one of the most up-to-date, if not completely academically verified, phylogenetic trees of Y chromosome haplogroups.
^Athey, Whit (2008). "Editor's Corner: A New Y-Chromosome Phylogenetic Tree"(PDF). Journal of Genetic Genealogy. 4 (1): i–ii. Retrieved July 8, 2013. Meanwhile, new SNPs are being announced or published almost every month. ISOGG’s role will be to maintain a tree that is as up-to-date as possible, allowing us to see where each new SNP fits in.
^Larmuseau, Maarten (November 14, 2014). "Towards a consensus Y-chromosomal phylogeny and Y-SNP set in forensics in the next-generation sequencing era". Forensic Science International: Genetics. 15: 39–42. doi:10.1016/j.fsigen.2014.11.012. PMID25488610.
Carmichael, Terrence; Alexander Ivanof Kuklin; Ed Grotjan (2000). How to DNA Test Our Family Relationships. Mountain View, CA: AceN Press. ISBN978-0-9664027-1-1. Early book on adoptions, paternity and other relationship testing. Carmichael is a founder of GeneTree.
Cavalli-Sforza, Luigi Luca; Paolo Menozzi; Alberto Piazza (1994). The History and Geography of Human Genes. Princeton, N.J.: Princeton University Press. ISBN978-0-691-08750-4.
Cavalli-Sforza, Luigi L.; Cavalli-Sforza, Francesco; Mimnaugh, Heather; Parker, Lynn (1996). The Great Human Diasporas : The History of Diversity and Evolution. Reading, MA: Addison-Wesley. ISBN978-0-201-44231-1.
Fitzpatrick, Colleen; Andrew Yeiser (2005). DNA and Genealogy. Fountain Valley, CA: Rice Book Press. ISBN978-0-9767160-1-3.
Gamble, Clive (1996). Timewalkers : The Prehistory of Global Colonization. Cambridge, MA: Harvard University Press. ISBN978-0-674-89203-3.
Jobling, Mark; Matthew Hurles; Chris Tyler-Smith (2003). Human Evolutionary Genetics : Origins, Peoples and Disease. New York, NY: Garland Science. ISBN978-0-8153-4185-7.
Olson, Steve (2003). Mapping Human History : Genes, Race, and Our Common Origins. Boston, MA: Houghton Mifflin. ISBN978-0-618-35210-4. Survey of major populations.
Oppenheimer, Stephen (2003). The Real Eve : Modern Man's Journey Out of Africa. New York, NY: Carroll & Graf. ISBN978-0-7867-1192-5.
Smolenyak, Megan; Ann Turner (2004). Trace Your Roots with DNA : Using Genetic Tests to Explore Your Family Tree. Emmaus, PA; Rodale, NY: Distributed to the trade by Holtzbrinck Publishers. ISBN978-1-59486-006-5. Out of date but still worth reading.
Pomery, Chris; Steve Jones (2004). DNA and Family History : How Genetic Testing Can Advance Your Genealogical Research. Toronto, Ontario, Canada: Dundurn Group. ISBN978-1-5500-2536-1. Early guide for do-it-yourself genealogists.
Pomery, Chris (2007). Family History in the Genes : Trace Your DNA and Grow Your Family Tree. Kew, UK: National Archives. ISBN978-1-905615-12-4.
Shawker, Thomas H. (2004). Unlocking Your Genetic History : A Step-by-Step Guide to Discovering Your Family's Medical and Genetic Heritage. Nashville, TN: Rutledge Hill Press. ISBN978-1-4016-0144-7. Guide to the subject of family medical history and genetic diseases.
Decker, A.E.; Kline, M.C.; Vallone, P.M.; Butler, J.M. (2007). "The impact of additional Y-STR loci on resolving common haplotypes and closely related individuals". Forensic Science International: Genetics. 1 (2): 215–217. doi:10.1016/j.fsigen.2007.01.012. PMID19083761.
Dula, Annette; Royal, Charmaine; Secundy, Marian Gray; Miles, Steven (2003). "The Ethical and Social Implications of Exploring African American Genealogies". Developing World Bioethics. 3 (2): 133–41. doi:10.1046/j.1471-8731.2003.00069.x. PMID14768645.
Gymrek, M.; McGuire, A. L.; Golan, D.; Halperin, E.; Erlich, Y. (2013). "Identifying Personal Genomes by Surname Inference". Science. 339 (6117): 321–4. doi:10.1126/science.1229566. PMID23329047.
Larmuseau, M.H.D.; Van Geystelen, A.; Van Oven, M.; Decorte, R. (2013). "Genetic genealogy comes of age: Perspectives on the use of deep-rooted pedigrees in human population genetics". American Journal of Physical Anthropology. 150 (4): 505–11. doi:10.1002/ajpa.22233. PMID23440589.
Greytak, Ellen M.; Moore, CeCe; Armentrout, Steven L. (2019). "Genetic genealogy for cold case and active investigations". Forensic Science International. 299: 103–113. doi:10.1016/j.forsciint.2019.03.039.