Human Genome Diversity Project
Encyclopedia
The Human Genome Diversity Project (HGDP) was started by Stanford University
's Morrison Institute and a collaboration of scientists around the world. It is the result of many years of work by Luigi Cavalli-Sforza, one of the most cited scientists in the world, which has published extensively in the use of genetics to understand human migration and evolution. The HGDP data data sets have often been cited in papers on such topics as population genetics
, anthropology
, and heritable disease
research.
The project has noted the need to record the genetic profiles of endogenous populations, as isolated populations are the best way to understand the genetic frequencies that have clues into our distant past. The relationship between such populations allow to infer the humankind journey from the initial humans that left Africa and populated the world. The HGDP-CEPH Human Genome Diversity Cell Line Panel, is a resource of 1063 cultured lymphoblastoid cell lines (LCLs) from 1050 individuals in 52 world populations, banked at the Foundation Jean Dausset-CEPH in Paris.
The HGDP is not related to the Human Genome Project
, and has attempted to maintain a distinct identity.
More specifically HGDP data has been used in studies in evolution and expansion of modern humans.
Diversity research is relevant in various fields of study ranging from disease surveillance
to anthropology
. Genome-wide-association studies (GWAS) try to associate a genetic mutation with a disease; it is becoming clear that these associations are population dependent and understanding human diversity will be a major step to increase the power to find associated genes with disease.
To gain a full assessment of human development
scientists must engage in diversity research. This research needs to be conducted as quickly as possible before small native populations such as those in South America
become extinct.
Another benefit of genomic diversity mapping would be in disease research. Diversity research could help explain why certain ethnic populations are vulnerable or resistant to certain diseases and how populations have adapted to these vulnerabilities (see race in biomedicine).
, colonialism
, biocolonialism (patenting), informed consent
and the prospect of biological warfare
.
RACISM
The Action Group on Erosion, Technology and Concentration (ETC Group)
has been a major critic of the HGDP, speculating that issues of racism and stigmatization could occur should the HGDP be completed. One major concern with the research project that they have put forward has been the potential for racism
in certain countries resulting from HGDP data. They feel that when governments are armed with genetic data linked to certain racial groups, those governments might deny human rights based on this genetic data. For example, countries could define races purely in genetic terms and deny a certain person right(s) based on their lack of conformity to a certain race's genetic model.
The rhetoric used by the HGDP and its participants to describe the project and its ambitions has been recognized as extremely problematic. Identifying indigenous peoples as "isolates of historic interest" positions them within racialized notions of science. Despite the "good intentions" of the project, infused in the discourse of the HGDP are both historical and problematic notions of racialization
("the vanishing Indian") and colonialism.
PATENTING
With the rise of the biotech industry, the commercialization and patenting of genetic data could have serious implications for indigenous people. Profit motivation makes these populations extremely vulnerable to exploitation.
UNEVEN APPLICATION
8 of 9 DNA groups under Ctrl/South category belong to Pakistan even though India is in the same group with about 7 times the population of Pakistan and with racial diversities many times over. However, it is noteworthy that Rosenberg et al. found that the sampled Pakistani populations are more genetically diverse than 15 Indian populations that were explicitly compared
USE of GENETIC DATA FOR CONTROVERSIAL NON-MEDICAL PURPOSES
Use of HGDP genetic materials for non-medical purposes purposes not agreed to by indigenous donors, especially purposes that create possibilities for human rights violations. For example, Kidd et al. described the use of DNA samples from indigenous populations to explore a forensic identification capability based on ethnic origins.
CREATING ARTIFICIAL GENETIC DISTINCTIONS
Anthropologist Jonathan Marks has stated that: "As any anthropologist knows, ethnic groups are categories of human invention, not given by nature. Their boundaries are porous, their existence historically ephemeral. There are the French, but no more Franks; there are the English, but no Saxons; and Navajos, but no Anasazi...we cannot really know the nature of the actual relationship of the modern group to the ancient one...The worst mistake you can make in human biology
is to confuse constructed categories with natural ones. And to overload a big project with cultural categories as the overall sampling strategy would be a serious problem. First it would make those labels appear to be genetic units; indeed, it would make them genetic units, which they had not been previously. Second, it would emphasise the genetic distinctions among these groups; it would force them to be genetically distinct by being labeled at the outset." Some indigenous peoples
have refused to take part in the HGDP due to concerns about misuse of the data: "In December [1993], a World Council of Indigenous Peoples in Guatemala repudiated the HGDP."
(NRC) issued its recommendations on the HGDP. The NRC endorsed the concept of diversity research, also pointing out some concerns with the HGDP procedure. The NRC report suggested alternatives such as doing sampling anonymously (i.e., sampling genetic data without tying it to specific racial groups). While such approaches would eliminate the concerns discussed above (regarding racism, weapons development, etc.), it would also prevent researchers from achieving many of the benefits that were to be gained from the project.
Some members of the Human Genome Project (HGP)
argued in favor of engaging in diversity research on data gleaned from the Human Genome Diversity Project, although most agreed that diversity research should be done by the HGP and not as a separate project.
A number of the principal collaborators with the HGDP have been involved in the privately-funded Genographic Project
launched in April 2005 with similar aims.
Stanford University
The Leland Stanford Junior University, commonly referred to as Stanford University or Stanford, is a private research university on an campus located near Palo Alto, California. It is situated in the northwestern Santa Clara Valley on the San Francisco Peninsula, approximately northwest of San...
's Morrison Institute and a collaboration of scientists around the world. It is the result of many years of work by Luigi Cavalli-Sforza, one of the most cited scientists in the world, which has published extensively in the use of genetics to understand human migration and evolution. The HGDP data data sets have often been cited in papers on such topics as population genetics
Population genetics
Population genetics is the study of allele frequency distribution and change under the influence of the four main evolutionary processes: natural selection, genetic drift, mutation and gene flow. It also takes into account the factors of recombination, population subdivision and population...
, anthropology
Anthropology
Anthropology is the study of humanity. It has origins in the humanities, the natural sciences, and the social sciences. The term "anthropology" is from the Greek anthrōpos , "man", understood to mean mankind or humanity, and -logia , "discourse" or "study", and was first used in 1501 by German...
, and heritable disease
Disease
A disease is an abnormal condition affecting the body of an organism. It is often construed to be a medical condition associated with specific symptoms and signs. It may be caused by external factors, such as infectious disease, or it may be caused by internal dysfunctions, such as autoimmune...
research.
The project has noted the need to record the genetic profiles of endogenous populations, as isolated populations are the best way to understand the genetic frequencies that have clues into our distant past. The relationship between such populations allow to infer the humankind journey from the initial humans that left Africa and populated the world. The HGDP-CEPH Human Genome Diversity Cell Line Panel, is a resource of 1063 cultured lymphoblastoid cell lines (LCLs) from 1050 individuals in 52 world populations, banked at the Foundation Jean Dausset-CEPH in Paris.
The HGDP is not related to the Human Genome Project
Human Genome Project
The Human Genome Project is an international scientific research project with a primary goal of determining the sequence of chemical base pairs which make up DNA, and of identifying and mapping the approximately 20,000–25,000 genes of the human genome from both a physical and functional...
, and has attempted to maintain a distinct identity.
Studied populations
A description of the populations that were studied can be found in a review paper by Cavalli-Sforza, in 2005:| Africa Africa Africa is the world's second largest and second most populous continent, after Asia. At about 30.2 million km² including adjacent islands, it covers 6% of the Earth's total surface area and 20.4% of the total land area... | Asia Asia Asia is the world's largest and most populous continent, located primarily in the eastern and northern hemispheres. It covers 8.7% of the Earth's total surface area and with approximately 3.879 billion people, it hosts 60% of the world's current human population... | Native America | Europe Europe Europe is, by convention, one of the world's seven continents. Comprising the westernmost peninsula of Eurasia, Europe is generally 'divided' from Asia to its east by the watershed divides of the Ural and Caucasus Mountains, the Ural River, the Caspian and Black Seas, and the waterways connecting... | Oceania Oceania Oceania is a region centered on the islands of the tropical Pacific Ocean. Conceptions of what constitutes Oceania range from the coral atolls and volcanic islands of the South Pacific to the entire insular region between Asia and the Americas, including Australasia and the Malay Archipelago... | |||
| Bantu | Western Asia | Central Central Asia Central Asia is a core region of the Asian continent from the Caspian Sea in the west, China in the east, Afghanistan in the south, and Russia in the north... & South Asia South Asia South Asia, also known as Southern Asia, is the southern region of the Asian continent, which comprises the sub-Himalayan countries and, for some authorities , also includes the adjoining countries to the west and the east... | Eastern Asia | Colombian Colombian people Colombian people are from a multiethnic Spanish speaking nation in South America called Colombia. Colombians are predominantly Roman Catholic and are a mixture of Europeans, Africans, and Amerindians.-Demography:... | Adygei | Melanesian | |
| Biaka | Bedouin Bedouin The Bedouin are a part of a predominantly desert-dwelling Arab ethnic group traditionally divided into tribes or clans, known in Arabic as ..-Etymology:... | Balochi Baloch people The Baloch or Baluch are an ethnic group that belong to the larger Iranian peoples. Baluch people mainly inhabit the Balochistan region and Sistan and Baluchestan Province in the southeast corner of the Iranian plateau in Western Asia.... | Khmer Khmer people Khmer people are the predominant ethnic group in Cambodia, accounting for approximately 90% of the 14.8 million people in the country. They speak the Khmer language, which is part of the larger Mon–Khmer language family found throughout Southeast Asia... | Mongolia Mongolia Mongolia is a landlocked country in East and Central Asia. It is bordered by Russia to the north and China to the south, east and west. Although Mongolia does not share a border with Kazakhstan, its western-most point is only from Kazakhstan's eastern tip. Ulan Bator, the capital and largest... | Karitiana | Basque Basque people The Basques as an ethnic group, primarily inhabit an area traditionally known as the Basque Country , a region that is located around the western end of the Pyrenees on the coast of the Bay of Biscay and straddles parts of north-central Spain and south-western France.The Basques are known in the... | Papuan |
| Mandenka Mandinka people The Mandinka, Malinke are one of the largest ethnic groups in West Africa with an estimated population of eleven million .... | Druze Druze The Druze are an esoteric, monotheistic religious community, found primarily in Syria, Lebanon, Israel, and Jordan, which emerged during the 11th century from Ismailism. The Druze have an eclectic set of beliefs that incorporate several elements from Abrahamic religions, Gnosticism, Neoplatonism... | Brahui Brahui people The Brahui or Brohi are ethnic Baloch group of about 2.2 million people with the majority found in Kalat, Baluchistan, Pakistan, but they are also found in smaller numbers in neighboring Afghanistan and Iran. The Brahuis are almost entirely Sunni Muslims.-Origins:The ethnonym "Brahui" is a very... | Dai Dai people The Dai peoples is one of several ethnic groups living in the Xishuangbanna Dai Autonomous Prefecture and the Dehong Dai and Jingpo Autonomous Prefecture , but by extension can apply to groups in Laos, Vietnam, Thailand, and Burma when Dai is used to mean specifically Tai Lue, Chinese Shan or even... | Naxi | Maya Maya peoples The Maya people constitute a diverse range of the Native American people of southern Mexico and northern Central America. The overarching term "Maya" is a collective designation to include the peoples of the region who share some degree of cultural and linguistic heritage; however, the term... | French French people The French are a nation that share a common French culture and speak the French language as a mother tongue. Historically, the French population are descended from peoples of Celtic, Latin and Germanic origin, and are today a mixture of several ethnic groups... | |
| Mbuti pygmy | Burusho | Daur | Oroqen | Pima Pima The Pima are a group of American Indians living in an area consisting of what is now central and southern Arizona. The long name, "Akimel O'odham", means "river people". They are closely related to the Tohono O'odham and the Hia C-ed O'odham... | North Italian Italian people The Italian people are an ethnic group that share a common Italian culture, ancestry and speak the Italian language as a mother tongue. Within Italy, Italians are defined by citizenship, regardless of ancestry or country of residence , and are distinguished from people... | ||
| Mozabite | Hazara | Han Han Chinese Han Chinese are an ethnic group native to China and are the largest single ethnic group in the world.Han Chinese constitute about 92% of the population of the People's Republic of China , 98% of the population of the Republic of China , 78% of the population of Singapore, and about 20% of the... (North China) | She She people The She people are a Chinese ethnic group. They form one of the 56 ethnic groups officially recognized by the People's Republic of China.... | Surui Suruí The Suruí, also called the Suruí-Paíter, are an indigenous people who live in the Rondônia region of Brazil.First prolonged contact with the modern world came in the late 1960s, the Brazilian government laid the 2,000-mile Trans-Amazon Highway through Rondônia... | Orcadian | ||
| San Bushmen The indigenous people of Southern Africa, whose territory spans most areas of South Africa, Zimbabwe, Lesotho, Mozambique, Swaziland, Botswana, Namibia, and Angola, are variously referred to as Bushmen, San, Sho, Barwa, Kung, or Khwe... | Kalash | Han Han Chinese Han Chinese are an ethnic group native to China and are the largest single ethnic group in the world.Han Chinese constitute about 92% of the population of the People's Republic of China , 98% of the population of the Republic of China , 78% of the population of Singapore, and about 20% of the... (South China) | Tu Tu people The Monguor or Tu people , White Mongol/Chagan Mongol are one of the 56 officially recognized ethnic groups in the People's Republic of China. The "Tu" ethnic category was created in the 1950s.... | Russian Russians The Russian people are an East Slavic ethnic group native to Russia, speaking the Russian language and primarily living in Russia and neighboring countries.... | |||
| Yoruba Yoruba people The Yoruba people are one of the largest ethnic groups in West Africa. The majority of the Yoruba speak the Yoruba language... | Makrani Makrani Makrani are the inhabitants of Makran coast of Balochistan in Iran and Pakistan.-Sheedi:Black Africans were enslaved and brought to Balochistan in medieval times. The descendants are called Makrani or Sheedi. The Sheedis are a Negroid people in Pakistan... | Hezhen | Tujia | Sardinian Sardinian people The Sardinian people or Sardinians are the people from or with origins in the island of Sardinia , in the Mediterranean sea, which forms part of southern Europe.-Origin and influences:... | |||
| Pashtun Pashtun people Pashtuns or Pathans , also known as ethnic Afghans , are an Eastern Iranic ethnic group with populations primarily between the Hindu Kush mountains in Afghanistan and the Indus River in Pakistan... | Japanese Japanese people The are an ethnic group originating in the Japanese archipelago and are the predominant ethnic group of Japan. Worldwide, approximately 130 million people are of Japanese descent; of these, approximately 127 million are residents of Japan. People of Japanese ancestry who live in other countries... | Xibo | Tuscan Tuscany Tuscany is a region in Italy. It has an area of about 23,000 square kilometres and a population of about 3.75 million inhabitants. The regional capital is Florence .... | ||||
| Sindhi Sindhi people Sindhis are a Sindhi speaking socio-ethnic group of people originating from Sindh, a province Formerly of British India, now in Pakistan. Today Sindhis that live in Pakistan belong to various religious denominations including Islam, Zoroastrianism, Hinduism, Sikhism and Christianity... | Lahu Lahu people The Lahu are an ethnic group of Southeast Asia and China.They are one of the 56 ethnic groups officially recognized by the People's Republic of China, where about 450,000 live in Yunnan province. An estimated 150,000 live in Burma. In Thailand, Lahu are one of the six main hill tribes; their... | Yakut Yakuts Yakuts , are a Turkic people associated with the Sakha Republic.The Yakut or Sakha language belongs to the Northern branch of the Turkic family of languages.... | |||||
| Uyghur Uyghur people The Uyghur are a Turkic ethnic group living in Eastern and Central Asia. Today, Uyghurs live primarily in the Xinjiang Uyghur Autonomous Region in the People's Republic of China... | Miao Miao people The Miao or ม้ง ; ) is an ethnic group recognized by the government of the People's Republic of China as one of the 55 official minority groups. Miao is a Chinese term and does not reflect the self-designations of the component nations of people, which include Hmong, Hmu, A Hmao, and Kho Xiong... | Yi Yi people The Yi or Lolo people are an ethnic group in China, Vietnam, and Thailand. Numbering 8 million, they are the seventh largest of the 55 ethnic minority groups officially recognized by the People's Republic of China... | |||||
Informed consent
One of the most important tenets of the HGDP debate has been the social and ethical implications for indigenous populations, specifically the methods and ethics of informed consent. Some questions include: How would consent be obtained? Would individuals or groups fully understand the project's intentions, particularly with regards to language barriers and differing cultural views? What is 'informed' in a cross-cultural context? Who would be authorized to actually give consent? How would individuals know what happened to their DNA? For how long would their information be kept in DNA databases? These questions are specifically addressed by the HGDP's "Model Ethical Protocol for Collecting DNA Samples".Potential benefits
The scientific community has used the HGDP data to study human migration, mutation rates, relationships between different populations, genes involved in height, selective pressure. So far there has been 148 papers published. Authors using HGDP data work in the US, Russia, Brasil, Ireland, Portugal, France, and other countries.More specifically HGDP data has been used in studies in evolution and expansion of modern humans.
Diversity research is relevant in various fields of study ranging from disease surveillance
Clinical surveillance
Clinical surveillance refers to the surveillance of health data about a clinical syndrome that has a significant impact on public health, which is then used to drive decisions about health policy and health education...
to anthropology
Anthropology
Anthropology is the study of humanity. It has origins in the humanities, the natural sciences, and the social sciences. The term "anthropology" is from the Greek anthrōpos , "man", understood to mean mankind or humanity, and -logia , "discourse" or "study", and was first used in 1501 by German...
. Genome-wide-association studies (GWAS) try to associate a genetic mutation with a disease; it is becoming clear that these associations are population dependent and understanding human diversity will be a major step to increase the power to find associated genes with disease.
To gain a full assessment of human development
Human development (biology)
Human development is the process of growing to maturity. In biological terms, this entails growth from a one-celled zygote to an adult human being.- Biological development:...
scientists must engage in diversity research. This research needs to be conducted as quickly as possible before small native populations such as those in South America
South America
South America is a continent situated in the Western Hemisphere, mostly in the Southern Hemisphere, with a relatively small portion in the Northern Hemisphere. The continent is also considered a subcontinent of the Americas. It is bordered on the west by the Pacific Ocean and on the north and east...
become extinct.
Another benefit of genomic diversity mapping would be in disease research. Diversity research could help explain why certain ethnic populations are vulnerable or resistant to certain diseases and how populations have adapted to these vulnerabilities (see race in biomedicine).
Potential problems
Denouncing the project since its outset, some indigenous communities, NGOs, and human rights organizations have objected to the HGDP's goals based on perceived issues of scientific racismScientific racism
Scientific racism is the use of scientific techniques and hypotheses to sanction the belief in racial superiority or racism.This is not the same as using scientific findings and the scientific method to investigate differences among the humans and argue that there are races...
, colonialism
Colonialism
Colonialism is the establishment, maintenance, acquisition and expansion of colonies in one territory by people from another territory. It is a process whereby the metropole claims sovereignty over the colony and the social structure, government, and economics of the colony are changed by...
, biocolonialism (patenting), informed consent
Informed consent
Informed consent is a phrase often used in law to indicate that the consent a person gives meets certain minimum standards. As a literal matter, in the absence of fraud, it is redundant. An informed consent can be said to have been given based upon a clear appreciation and understanding of the...
and the prospect of biological warfare
Biological warfare
Biological warfare is the use of biological toxins or infectious agents such as bacteria, viruses, and fungi with intent to kill or incapacitate humans, animals or plants as an act of war...
.
RACISM
The Action Group on Erosion, Technology and Concentration (ETC Group)
ETC Group
ETC Group is an international organization dedicated to "the conservation and sustainable advancement of cultural and ecological diversity and human rights." The full legal name is Action Group on Erosion, Technology and Concentration...
has been a major critic of the HGDP, speculating that issues of racism and stigmatization could occur should the HGDP be completed. One major concern with the research project that they have put forward has been the potential for racism
Racism
Racism is the belief that inherent different traits in human racial groups justify discrimination. In the modern English language, the term "racism" is used predominantly as a pejorative epithet. It is applied especially to the practice or advocacy of racial discrimination of a pernicious nature...
in certain countries resulting from HGDP data. They feel that when governments are armed with genetic data linked to certain racial groups, those governments might deny human rights based on this genetic data. For example, countries could define races purely in genetic terms and deny a certain person right(s) based on their lack of conformity to a certain race's genetic model.
The rhetoric used by the HGDP and its participants to describe the project and its ambitions has been recognized as extremely problematic. Identifying indigenous peoples as "isolates of historic interest" positions them within racialized notions of science. Despite the "good intentions" of the project, infused in the discourse of the HGDP are both historical and problematic notions of racialization
Racialization
Racialization refers to processes of the discursive production of racial identities. It signifies the extension of dehumanizing and racial meanings to a previously racially unclassified relationship, social practice, or group...
("the vanishing Indian") and colonialism.
PATENTING
With the rise of the biotech industry, the commercialization and patenting of genetic data could have serious implications for indigenous people. Profit motivation makes these populations extremely vulnerable to exploitation.
UNEVEN APPLICATION
8 of 9 DNA groups under Ctrl/South category belong to Pakistan even though India is in the same group with about 7 times the population of Pakistan and with racial diversities many times over. However, it is noteworthy that Rosenberg et al. found that the sampled Pakistani populations are more genetically diverse than 15 Indian populations that were explicitly compared
USE of GENETIC DATA FOR CONTROVERSIAL NON-MEDICAL PURPOSES
Use of HGDP genetic materials for non-medical purposes purposes not agreed to by indigenous donors, especially purposes that create possibilities for human rights violations. For example, Kidd et al. described the use of DNA samples from indigenous populations to explore a forensic identification capability based on ethnic origins.
CREATING ARTIFICIAL GENETIC DISTINCTIONS
Anthropologist Jonathan Marks has stated that: "As any anthropologist knows, ethnic groups are categories of human invention, not given by nature. Their boundaries are porous, their existence historically ephemeral. There are the French, but no more Franks; there are the English, but no Saxons; and Navajos, but no Anasazi...we cannot really know the nature of the actual relationship of the modern group to the ancient one...The worst mistake you can make in human biology
Human biology
Human Biology is an interdisciplinary area of study that examines humans through the influences and interplay of many diverse fields such as genetics, evolution, physiology, epidemiology, ecology, nutrition, population genetics and sociocultural influences. It is closely related to...
is to confuse constructed categories with natural ones. And to overload a big project with cultural categories as the overall sampling strategy would be a serious problem. First it would make those labels appear to be genetic units; indeed, it would make them genetic units, which they had not been previously. Second, it would emphasise the genetic distinctions among these groups; it would force them to be genetically distinct by being labeled at the outset." Some indigenous peoples
Indigenous peoples
Indigenous peoples are ethnic groups that are defined as indigenous according to one of the various definitions of the term, there is no universally accepted definition but most of which carry connotations of being the "original inhabitants" of a territory....
have refused to take part in the HGDP due to concerns about misuse of the data: "In December [1993], a World Council of Indigenous Peoples in Guatemala repudiated the HGDP."
Alternative approaches
In 1995, the National Research CouncilUnited States National Research Council
The National Research Council of the USA is the working arm of the United States National Academies, carrying out most of the studies done in their names.The National Academies include:* National Academy of Sciences...
(NRC) issued its recommendations on the HGDP. The NRC endorsed the concept of diversity research, also pointing out some concerns with the HGDP procedure. The NRC report suggested alternatives such as doing sampling anonymously (i.e., sampling genetic data without tying it to specific racial groups). While such approaches would eliminate the concerns discussed above (regarding racism, weapons development, etc.), it would also prevent researchers from achieving many of the benefits that were to be gained from the project.
Some members of the Human Genome Project (HGP)
Human Genome Project
The Human Genome Project is an international scientific research project with a primary goal of determining the sequence of chemical base pairs which make up DNA, and of identifying and mapping the approximately 20,000–25,000 genes of the human genome from both a physical and functional...
argued in favor of engaging in diversity research on data gleaned from the Human Genome Diversity Project, although most agreed that diversity research should be done by the HGP and not as a separate project.
A number of the principal collaborators with the HGDP have been involved in the privately-funded Genographic Project
The Genographic Project
The Genographic Project, launched on April 13, 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...
launched in April 2005 with similar aims.
External links
- Morrison Institute
- Fondation Jean Dausset
- ETC Group
- National Research Council
- A critical page about the HGDP from physical anthropologist Jonathan Marks
- The Human Genome Controversy
- Not to be confused with National Cancer Institute, Laboratory of Genomic Diversity