The Genographic Project, launched on 13 April 2005 by the National Geographic Society and IBM, is a multi-year genetic anthropology study that aims to map historical human migration patterns by collecting and analyzing DNA samples from hundreds of thousands of people from around the world.
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Field researchers at 11 regional centers around the world collect DNA samples from indigenous populations. The project also sells self-testing kits: for US$100 (with the advent of Phase II "Geno2.0" testing, the price has been increased to US$199.95 for a more comprehensive test). Anyone in the world can order a kit with which a mouth scraping (buccal swab) is obtained and analyzed, and the DNA information is placed on an Internet-accessible database. In the first phase of the project, genetic markers on mitochondrial DNA (HVR1) and Y-chromosomes (12 microsatellite markers and haplogroup-defining SNPs) were used to trace the participant's distant ancestry, and each customer was provided with their genetic history via a secure website. With the new Geno 2.0 test, nearly 150,000 genetic markers from across the entire genome are examined, with the results delivered via an updated website. As of 2014 some 700,000 people have contributed their DNA for analysis. This element of success of the project has resulted in a broader interest in direct-to-consumer genetic testing.
The Genographic Project is undertaking widespread consultation with indigenous groups from around the world. Genographic Project public participation kits are processed by Family Tree DNA (FTDNA) in Houston, Texas.
The project is a privately funded, not-for-profit collaboration between the National Geographic Society, IBM and the . Part of the proceeds from the sale of self-testing kits support the Genographic Project's ongoing DNA collection, but the majority are used for a Legacy Fund to be spent on cultural preservation projects nominated by indigenous communities.
In Fall 2012, The Genographic Project announced the completion of a new genotyping array, dedicated to Genetic Anthropology, called the GenoChip. GenoChip is specifically designed for anthropological testing and includes SNPs from autosomal DNA, X-chromosome DNA, Y-chromosome DNA and mitochondrial DNA (mtDNA). The design of the new chip was a collaborative effort between Dr. Eran Elhaik of Johns Hopkins, Spencer Wells of National Geographic, Family Tree DNA, and Illumina.
Geno 2.0 test
The Admixture test developed by Wells and Elhaik classifies individuals by assessing their proportions of genomic ancestry related to nine ancestral regions: Northeast Asian, Mediterranean, Southern African, Southwest Asian, Oceanian, Southeast Asian, Northern European, Sub-Saharan African and Native American. Characteristics of 43 reference populations have been developed, each made up of distinct blends of these nine regions (results < 2% are not reported by Geno 2.0):
|Population||Mediterranean||Northern European||Southwest Asian||Sub-Saharan African||Southern African||Northeast Asian||Southeast Asian||Native American||Oceanian||Total|
The test results confidentially presented to each participant include, as of December 2014, the following pieces of information:
- The proportions of genomic ancestry related to the nine groups mentioned above ("ancestral regions".)
- The proportions of Neanderthal and Denisovan DNA carried by the participant.
- The origins of the maternal line, with a world map showing the approximate locations (and dates) where the mitochondrial-DNA markers have first appeared (in other words, the migration history of the purely maternal ancestors.)
- The paternal line (only for the male participants), with a world map showing where and when the Y-chromosome markers have first appeared (i.e., the migration history of the purely paternal ancestors.)
- A database with all 150000 DNA markers of the participant.
Team members include:
- Spencer Wells, project director (National Geographic Explorer-in-Residence)
- Jin Li, principal investigator, East Asia
- Theodore Schurr, principal investigator, North America
- Fabricio Santos, principal investigator, South America
- Jaume Bertranpetit, David Comas and Lluis Quintana-Murci, principal investigators, Western Europe and Central Europe
- Pierre Zalloua, principal investigator, Middle East and Northern Africa
- Himla Soodyall, principal investigator, Sub-Saharan Africa
- Elena Balanovska, principal investigator, North Eurasia
- Ramasamy Pitchappan, principal investigator, India
- Alan Cooper, principal investigator, Ancient DNA
- John Mitchell, principal investigator, Australia and New Zealand
- Lisa Matisoo-Smith, principal investigator, Oceania
- Ajay Royyuru, head of computational biology, IBM
- Simon Longstaff, advisory board chair (director of the St James Ethics Centre)
- Meave Leakey, advisory board member
- Merritt Ruhlen, advisory board member
- Colin Renfrew, advisory board member
- Luigi Luca Cavalli-Sforza, advisory board member
- Wade Davis, advisory board member
- Kim McKay, National Geographic Consultant and Genographic Legacy Fund committee member
- Dominique Rissolo, advisory board member
Use of genetic markers
The Genographic Project relies on the identification of genetic markers. Most human DNA is a shuffled combination of genetic material passed down the generations. There are, however, parts of the human genome that pass unshuffled from parent to child. These segments of DNA are only changed by occasional mutations—random spelling mistakes in the genetic code. When these spelling mistakes are passed down to succeeding generations, they become markers of descent.
Different populations have different genetic markers, and by following them through the generations scientists are able to identify the different branches of the human tree, all the way back to their common African root. Indigenous populations provide geographical and cultural context to the genetic markers in their DNA. These clues can help recreate past migration patterns.
Since 2005 Genographic has used volunteers (in fieldwork & providing DNA samples) and citizen science projects. Such outreach for public participation in research has been encouraged by organizations such as International Society of Genetic Genealogy (ISOGG), which is seeking to promote benefits from scientific research. This includes supporting, organization and dissemination of personal DNA (genetic) testing.
ISOGG - the International Society of Genetic Genealogy supports citizen participation in genetic research, and believes such volunteers have provided valuable information and research to the professional scientific community.
In a 2013 speech to the Southern California Genealogical Society, Spencer Wells, Director of the Genographic Project, discussed its encouragement of citizen scientists:
Since 2005, the Genographic Project has used the latest genetic technology to expand our knowledge of the human story, and its pioneering use of DNA testing to engage and involve the public in the research effort has helped to create a new breed of "citizen scientist." Geno 2.0 expands the scope for citizen science, harnessing the power of the crowd to discover new details of human population history.
Human rights criticism
Shortly after the announcement of the project in April 2005, the Indigenous Peoples Council on Biocolonialism (IPCB), based in Nevada, released a statement criticizing the project: spokespersons noted its connections to controversial issues raised by the Human Genome Diversity Project, which had government overview, unlike this private project. The IPCB recommended against indigenous people participating. It also recommended that indigenous peoples boycott IBM, Gateway Computers, and National Geographic, which are collaborating on the Genographic Project.
In May 2006, some indigenous representatives went to United Nations Permanent Forum on Indigenous Issues (UNPFII) to contest participation in genetic testing. A spokesman said,
"The Genographic Project is exploitative and unethical because it will use Indigenous peoples as subjects of scientific curiosity in research that provides no benefit to Indigenous peoples, yet subjects them to significant risks. Researchers will take blood or other bodily tissue samples for their own use in order to further their own speculative theories of human history".
UNPFII conducted investigations into the objectives of the Genographic Project, and concluded that, since the project was "conceived and has been initiated without appropriate consultation with or regard for the risks to its subjects, the Indigenous peoples, the Council for Responsible Genetics concludes that the Indigenous peoples' representatives are correct and that the Project should be immediately suspended".
Around May 2006, the UNPFII recommended that National Geographic and other sponsors suspend the project. Concerns were that the knowledge gleaned from the research could clash with long-held beliefs of indigenous peoples and threaten their cultures. There were also concerns that indigenous claims to land rights and other resources could be threatened.
As of December 2006[update], some federally recognized tribes in the United States have declined to take part in the study. "What the scientists are trying to prove is that we're the same as the Pilgrims except we came over several thousand years before", said Maurice Foxx, chairman of the Massachusetts Commission on Indian Affairs and a member of the Mashpee Wampanoag. "Why should we give them that openly?" Not all peoples agree with his position. as of December 2012[update], more than 70,000 indigenous participants from the Americas, Africa, Asia, Europe, and Oceania had joined the project .
- Michael Shapiro (October–November 2007). "The Ancestors' Ancestors". Hana Hou! Vol. 10 #5. Retrieved 2007-10-18.
- Who Am I: Regions Overview
- "Genetic Signposts" (National Geographic Xpeditions).
- "Genographic:Permanent Markers" (The Genographic Project), National Geographic.
- Bonney, R. and LaBranche, M. (2004). "Citizen Science: Involving the Public in Research," ASTC Dimensions, May/June 2004, p. 13.
- Baretto, C., Fastovsky, D. and Sheehan, P. (2003). "A Model for Integrating the Public into Scientific Research," Journal of Geoscience Education, 50 (1). p. 71-75.
- McCaffrey, R.E. (2005). "Using Citizen Science in Urban Bird Studies," Urban Habitats, 3 (1). p. 70-86.
- 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.
- Mendex, etc. al., Fernando (28 February 2013). "An African American Paternal Lineage Adds an Extremely Ancient Root to the Human Y Chromosome Phylogenetic Tree". Volume 92, Issue 3. The American Society of Human Genetics. pp. 454–459. Retrieved 10 July 2013.
- Wells, Spencer (2013). "The Genographic Project and the Rise of Citizen Science". Southern California Genealogical Society (SCGS). Retrieved July 10, 2013.
- Harry, Debra and Le'a Malia Kanehe. "Genetic Research: Collecting Blood to Preserve Culture?" Cultural Survival, 29.4 (Winter 2005). Accessed 4 February 2014.
- Harmon, Amy (10 December 2006). "DNA Gatherers Hit Snag: Tribes Don't Trust Them". The New York Times.
- "United Nations Recommends Halt to Genographic Project". ipcb.
- Genographic Project, official site at National Geographic
- IBM Genographic Project, official site at IBM
- "Finding the roots of modern humans". CNN. 14 April 2005.
- "'Genographic Project' aims to tell us where we came from". USA Today. 17 April 2005.
- "Indigenous Peoples Oppose National Geographic", Indigenous Peoples Council on Biocolonialism, 13 April 2005.
- "Tracking the Truth", DB2 Magazine (IBM), information about IBM's role in the project. December 2006.
- Genographic Success Stories
- "Crusaders left genetic legacy". BBC News. 27 March 2008.
- "Human Line 'Nearly split In Two'". BBC News. 24 April 2008.
- Spencer Wells: Building a family tree for all humanity on YouTube, on TED, 29 August 2008.