International Society of Genetic Genealogy

International Society of
Genetic Genealogy
Abbreviation ISOGG
Formation 2005
Purpose To advocate for and educate about the use of genetics as a tool for genealogical research, and promote a supportive network for genetic genealogists
Membership
 8,000
Director
 Katherine Borges
Website www.isogg.org
Part of a series on
Genetic genealogy
Concepts
Related topics

The International Society of Genetic Genealogy (ISOGG) is an independent non-commercial nonprofit organization of genetic genealogists run by volunteers. It was founded by a group of surname DNA project administrators in 2005 to promote DNA testing for genealogy. It advocates the use of genetics in genealogical research, provides educational resources for genealogists interested in DNA testing, and facilitates networking among genetic genealogists.[1][2][3] As of June 2013, it comprises over 8,000 members in 70 countries.[4] As of July 2013, regional meetings are coordinated by 20 volunteer regional coordinators located in the United States, Australia, Brazil, Canada, England, Egypt, Ireland and Russia.[5][6]

ISOGG hosts the ISOGG Wiki, a free online encyclopedia maintained by ISOGG members which contains a wide variety of educational resources and guidance for genetic genealogy consumers and DNA project administrators.[7] The ISOGG Wiki contains ethical guidelines for DNA project administrators and ISOGG members perform peer reviews of DNA project websites of other members on request, following which the websites may display the ISOGG Peer Reviewed graphic.[8][9]

Industry regulation and standards

In 2006 ISOGG co-founder and director Katherine Borges explained there was interest in testing as "people want to connect",[10] and in 2010 she estimated one million people had taken DTC genetic genealogy tests since they became available in 2000.[11]

In 2008 ISOGG supported the passing of the Genetic Information Nondiscrimination Act designed to prohibit the improper use of genetic information in health insurance and employment in the United States.[11][12] In July 2010 Borges represented ISOGG at an FDA public meeting on oversight of laboratory developed tests, where she spoke against FDA regulation preventing consumer access to DTC testing:[13][14]

The general view of ISOGG's members is that regulatory agencies should not stand between a consumer who wishes to collect data on their own genome, and labs that can provide that service. The genome of an individual consists fundamentally of information, and every individual in a free society has an absolute right to information about their own genome from a source of their choosing. Our membership base consists of many MDs, PhDs, and other specialists who are willing to volunteer their time to assist with the development of industry standards, good practices, and advisory panels. These concepts could be developed in collaboration with federal agencies like NIST and the FTC. And FDA's regulatory requirements for DTCs could be met with something as simple as full and adequate disclosures of the limitations of the tests by the testing companies. The result could be a happy medium to the benefit of consumers, the laboratories, the testing companies, the government and to taxpayers.[11][15]

An article published in Genetics in Medicine in March 2012 provides an overview of the diverse array of tests and practices in the emerging DTC genetic genealogy industry. In the article, the authors highlight ISOGG's potential role in developing industry best practice guidelines and consumer guidance:

Based on these data and our previous research, we believe that specific, federal regulation of the DNA ancestry testing industry is not warranted or justifiable at this time ... While no ethical or industry standards have been published, some companies in the DNA ancestry industry are accredited by the American Association of Blood Banks and the Clinical Laboratory Improvement Amendments ... We call on the International Society of Genetic Genealogy (ISOGG) to take a leadership role in (i) articulating an ethical code to guide the practices of the industry it advocates and (ii) developing a consumer guide to provide prospective consumers of the DNA ancestry testing industry with a reliable means to compare products and companies for their varying consumer motivations and interests. Moreover, we reiterate the need for a roundtable discussion (as recommended by the American Society of Human Genetics white paper) to better engage the many parties with diverse needs for and interests in DNA ancestry inference and testing. Such a roundtable will be successful in developing best practice guidelines for DNA ancestry testing only if all parties approach the project in good faith.[16]

The increasing affordability and popularity of DTC genetic genealogy testing has also raised ethical concerns about genealogists testing the DNA of others without consent. According to Borges, "People who realize the potential of DNA will go to great lengths to get it."[17] The ISOGG Wiki contains a selection of external resources on ethics for genetic genealogists.[18]

Y-STR nomenclature

ISOGG promotes the adoption of voluntary industry Y-STR nomenclature standards developed by NIST and published in the Journal of Genetic Genealogy in 2008.[11][19] Borges explains ISOGG's rationale as follows:

As DNA testing for genetic genealogy purposes has become common and more people put their DNA profiles into online ancestry databases, the need for a universal format became apparent. This is a big benefit to consumers. They will definitely find more matches because of this new standard. Currently, consumers are often unaware they have to convert their results for use on different databases or are intimidated enough by the process that they don’t check a variety of databases. Also, some errors find their way into conversion tools. All these problems reduce chances of finding matches.[20]

Citizen science

ISOGG members such as Leo Little,[21][22] Roberta Estes, Rebekah Canada and Bonnie Schrack have been involved in important citizen science discoveries regarding human phylogeny and ethnic origins.[23][24][25][26] The broader ISOGG membership participates in and supports the Genographic Project, a genetic anthropology study that uses crowdsourcing to facilitate new discoveries about human genetic history, and other genetic databases where broader and larger databases aid the identification of participants' ancestral origins.[4][27][28]

Y chromosome phylogenetic tree

Since 2006 ISOGG has hosted the regularly updated online ISOGG Y-chromosome phylogenetic tree.[3][29] ISOGG aims to keep the tree as up-to-date as possible, incorporating new SNPs which are being discovered frequently.[30] The ISOGG tree has been described by academics as using the accepted nomenclature for human Y-chromosome DNA haplogroups and subclades in that it follows the Y Chromosome Consortium nomenclature as described in Karafet et al. 2008,[30][30][31] and being "one of the most up-to-date, if not completely academically verified, phylogenetic trees of Y chromosome haplogroups".[32] The ISOGG tree is widely cited in peer reviewed academic literature.[33][34][35][36][37][38][39]

See also

References

  1. ↑ "The International Society of Genetic Genealogy". ISOGG. Retrieved July 1, 2013. See Homepage, Our Mission and About ISOGG.
  2. ↑ "ISOGG 2013 Y-DNA Haplogroup Tree". ISOGG. Retrieved July 10, 2013. ISOGG (International Society of Genetic Genealogy) is not affiliated with any registered, trademarked, and/or copyrighted names of companies, websites and organizations.
  3. 1 2 King, Turi E.; Jobling, Mark A. (2009). "What's in a name? Y chromosomes, surnames and the genetic genealogy revolution". Trends in Genetics 25 (8): 351–60. doi:10.1016/j.tig.2009.06.003. PMID 19665817. The International Society of Genetic Genealogy (www.isogg.org) advocates the use of genetics as a tool for genealogical research, and provides a support network for genetic genealogists. It hosts the ISOGG Y-haplogroup tree, which has the virtue of being regularly updated.
  4. 1 2 "Family History and DNA: Genetic Genealogy in 2013". Southern California Genealogical Society. Retrieved July 7, 2013.
  5. ↑ "ISOGG Regional Coordinators". ISOGG. Retrieved July 9, 2013.
  6. ↑ "ISOGG Meetings". ISOGG. Retrieved July 9, 2013.
  7. ↑ "The International Society of Genetic Genealogy – Wiki". ISOGG. Retrieved July 8, 2013.
  8. ↑ "The International Society of Genetic Genealogy Wiki (ISOGG Project Administrator Guidelines)". ISOGG. Retrieved July 9, 2013.
  9. ↑ "International Society of Genetic Genealogy – Member Peer Review". ISOGG. Retrieved July 8, 2013.
  10. ↑ Harmon, Amy (June 11, 2006). "Who's Your Great-Great-Great-Great-Granddaddy?". The New York Times. Retrieved July 7, 2013.
  11. 1 2 3 4 Smolenyak, Megan (July 20, 2010). "Don't 'Protect' Us From Our Own Genetic Information". The Huffington Post. Retrieved July 7, 2013.
  12. ↑ Borges, Katherine (March 1, 2008). "From the Director". ISOGG Newsletter 1 (1). Retrieved July 7, 2013.
  13. ↑ "FDA/CDRH Public Meeting: Oversight of Laboratory Developed Tests (LDTs), Date July 19–20, 2010". FDA. Retrieved July 7, 2013.
  14. ↑ Vorhaus, Dan. "The Conversation Continues: Recap from Day Two of FDA’s Regulatory Meeting". Genomics Law Report. Retrieved July 8, 2013. DTC genetic testing also had its advocates, including 23andMe co-founder Anne Wojcicki and Katherine Borges, Director of the International Society of Genetic Genealogy (ISOGG), who delivered one of the most impassioned arguments for prioritizing individual access over FDA regulation. Borges sounded a familiar refrain in arguing that the FDA should not restrict consumer access to genetic information 'without credible, compelling scientific data to support' such regulation.
  15. ↑ "Public Meeting on Oversight of Laboratory Developed Tests, Tuesday, July 20, 2010" (PDF). FDA. Retrieved July 7, 2013.
  16. ↑ Wagner, Jennifer K.; Cooper, Jill D.; Sterling, Rene; Royal, Charmaine D. (2012). "Tilting at windmills no longer: A data-driven discussion of DTC DNA ancestry tests". Genetics in Medicine 14 (6): 586–93. doi:10.1038/gim.2011.77. PMID 22382803.
  17. ↑ Harmon, Amy (April 2, 2007). "Stalking Strangers’ DNA to Fill in the Family Tree". The New York Times. Retrieved July 7, 2013.
  18. ↑ "The International Society of Genetic Genealogy Wiki (Ethics)". ISOGG. Retrieved July 8, 2013.
  19. ↑ John M. Butler, Margaret C. Kline, and Amy E. Decker (2008). "Addressing Y-Chromosome Short Tandem Repeat Allele Nomenclature" (PDF). Journal of Genetic Genealogy 4 (2): 125–148. Retrieved July 8, 2013.
  20. ↑ "Sorenson Molecular Genealogy Foundation is First to Adopt Genetic Genealogy’s New Industry Standard for Reporting Y-DNA Profiles" (Press release). Business Wire. August 17, 2009. Retrieved July 8, 2013.
  21. ↑ Bettinger, Blaine (May 27, 2008). "In Memoriam – Leo William Little". The Genetic Genealogist. Retrieved July 16, 2013.
  22. ↑ "Obituary for Leo W. Little Jr.". Orlando Sentinel. June 23, 2008. Retrieved July 16, 2013.
  23. ↑ Estes, Roberta (April 10, 2013). "DIY DNA Analysis, GenomeWeb and Citizen Scientist 2.0". DNAeXplained. Retrieved July 16, 2013.
  24. ↑ Estes, Roberta J.; Jack H. Goins; Penny Ferguson; Janet Lewis Crain (2011). "Melungeons, A Multi-Ethnic Population" (PDF). Journal of Genetic Genealogy 7 (2). Retrieved July 17, 2013.
  25. ↑ Loller, Travis (May 24, 2012). "Melungeon DNA Study Reveals Ancestry, Upsets 'A Whole Lot Of People'". The Huffington Post. Retrieved July 17, 2013. 'There were a whole lot of people upset by this study,' lead researcher Roberta Estes said ... Estes and her fellow researchers theorize that the various Melungeon lines may have sprung from the unions of black and white indentured servants living in Virginia in the mid-1600s, before slavery ... In order to conduct the larger DNA study, Goins and his fellow researchers – who are genealogists but not academics – had to define who was a Melungeon.
  26. ↑ "Family Tree DNA's Genomics Research Center Facilitates Discovery of Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree" (Press release). Gene By Gene. March 26, 2013. Retrieved July 17, 2013. Once in Family Tree DNA's database, long-time project administrator Bonnie Schrack noticed that the sample was very unique and advocated for further testing to be done. 'This whole discovery began, really, with a citizen scientist – someone very similar to our many customers who are interested in learning more about their family roots using one of our genealogy products,' said Gene By Gene President Bennett Greenspan.
  27. ↑ Callaway, Ewen (June 5, 2012). "Ancestry testing goes for pinpoint accuracy". Nature 486 (7401): 17–17. doi:10.1038/486017a. Commercial ancestry testing, once the province of limited information of dubious accuracy, is taking advantage of whole-genome scans, sophisticated analyses and ever-deeper databases of human genetic diversity to help people to answer a simple question: where am I from?
  28. ↑ Vergano, Dan (June 13, 2013). "DNA detectives seek origins of you". USA Today. Retrieved July 16, 2013.
  29. ↑ "ISOGG 2006 Y-DNA Haplogroup Tree". ISOGG. Retrieved July 8, 2013. An ISOGG group was formed in November 2005 to create a web-based document which could be updated to keep pace with the rapid developments in the field.
  30. 1 2 3 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. ISOGG is committed to a tree with the minimum of confusion for users, so naturally, with the publication of the new tree in Karafet (2008), ISOGG will be changing several haplogroup names to conform to the choices made by Karafet ... 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.
  31. ↑ Van Holst Pellekaan, Sheila (2013). "Genetic evidence for the colonization of Australia". Quaternary International 285: 44–56. doi:10.1016/j.quaint.2011.04.014. Classification of the mtDNA lineages is historic, following the naming of Native American haplogroups A, B, C and D (Torroni et al., 2006). This initiated a generally accepted nomenclature, whereby African lineages were called L and one of these, L3, apparently gave rise to some African and all non-African mt haplotypes (matrilines) that cluster under the ‘superfamilies’ or macrohaplogroups called ‘M’ and ‘N’. There are now non-African mtDNA haplogroups named after all the other letters of the alphabet (except L) that are subdivisions of the large M and N superfamilies (van Oven and Kayser, 2010). The accepted system of naming sub-groups was set out by Richards et al. (1998) and more recently reviewed by Torroni et al. (2006). Y-chromosome studies have also resulted in an accepted nomenclature (see Karafet et al., 2008; ISOGG, 2010).
  32. ↑ Redmonds, George; King, Turi; Hey, David (2011). Surnames, DNA, and Family History. Oxford: Oxford University Press. p. 196. ISBN 9780199582648. 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.
  33. ↑ Li, Dongna; Li, Hui; Ou, Caiying; Lu, Yan; Sun, Yuantian; Yang, Bo; Qin, Zhendong; Zhou, Zhenjian; Li, Shilin; Jin, Li Jin (2008). MacAulay, Vincent, ed. "Paternal Genetic Structure of Hainan Aborigines Isolated at the Entrance to East Asia". PLoS ONE 3 (5): e2168. doi:10.1371/journal.pone.0002168. PMC 2374892. PMID 18478090.
  34. ↑ Zhao, Zhongming; Khan, Faisal; Borkar, Minal; Herrera, Rene; Agrawal, Suraksha (2009). "Presence of three different paternal lineages among North Indians: A study of 560 Y chromosomes". Annals of Human Biology 36 (1): 46–59. doi:10.1080/03014460802558522. PMC 2755252. PMID 19058044.
  35. ↑ Regueiro, Maria; Rivera, Luis; Damnjanovic, Tatjana; Lukovic, Ljiljana; Milasin, Jelena; Herrera, Rene J. (2012). "High levels of Paleolithic Y-chromosome lineages characterize Serbia". Gene 498 (1): 59–67. doi:10.1016/j.gene.2012.01.030. PMID 22310393.
  36. ↑ Al-Zahery, Nadia; Pala, Maria; Battaglia, Vincenza; Grugni, Viola; Hamod, Mohammed A; Kashani, Baharak; Olivieri, Anna; Torroni, Antonio; Santachiara-Benerecetti, Augusta S (2011). "In search of the genetic footprints of Sumerians: A survey of Y-chromosome and mtDNA variation in the Marsh Arabs of Iraq". BMC Evolutionary Biology 11: 288. doi:10.1186/1471-2148-11-288. PMC 3215667. PMID 21970613.
  37. ↑ Ambrosio, B.; Dugoujon, J. M.; Hernández, C.; De La Fuente, D.; González-Martín, A.; Fortes-Lima, C. A.; Novelletto, A.; Rodríguez, J. N.; Calderón, R. (2010). "The Andalusian population from Huelva reveals a high diversification of Y-DNA paternal lineages from haplogroup E: Identifying human male movements within the Mediterranean space". Annals of Human Biology 37 (1): 86–107. doi:10.3109/03014460903229155. PMID 19939195.
  38. ↑ Wagner, Jennifer K.; Weiss, Kenneth M. (2011). "Attitudes on DNA ancestry tests". Human Genetics 131 (1): 41–56. doi:10.1007/s00439-011-1034-5. PMID 21698460.
  39. ↑ Fedorova, Sardana A; Reidla, Maere; Metspalu, Ene; Metspalu, Mait; Rootsi, Siiri; Tambets, Kristiina; Trofimova, Natalya; Zhadanov, Sergey I; Kashani, Baharak (2013). "Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): Implications for the peopling of Northeast Eurasia". BMC Evolutionary Biology 13: 127. doi:10.1186/1471-2148-13-127. PMC 3695835. PMID 23782551.

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