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Frequently Asked Questions
Prepared by the Project's North American Committee
The Human Genome Diversity Project (the "HGD Project") is an
international project that seeks to understand the diversity and unity of
the entire human species. The HGD Project is still largely in its planning
stages, seeking the best ways to reach its goals. We hope this document
will provide important background information to help people gain a better
understanding of this evolving initiative. It was written by the North
American Committee of the HGD Project in late 1993 and early 1994 to
respond to questions committee members were frequently asked. It
represents the views of that Committee at that time.
- What is
the Human Genome Diversity Project?
- Why is
the HGD Project important?
- Is
this Project part of the Human Genome Project?
- How is
the HGD Project organized?
- What will
the HGD Project do?
- Do
different human groups have significantly different DNA?
- Are
ethnic groups genetically definable?
- How will
the samples be collected?
- Who will
decide what populations are sampled?
- How will
this Project affect the populations that are sampled?
- Will the
HGD Project patent these samples?
- Could
these samples be used to create biological weapons that were targeted at
particular populations?
- Could
these samples be used to recreate members of sampled populations?
- Why
should there be one worldwide HGD Project?
- How much
is this Project going to cost and who is going to pay for it?
- Couldn't
that money be better spent?
- How can
I get more information about the Human Genome Diversity Project?
The HGD
Project is an effort by anthropologists, geneticists, doctors, linguists,
and other scholars from around the world to document the genetic variation
of the human species worldwide. This scientific endeavor is designed to
collect information on human genome variation to help us understand the
genetic makeup of all of humanity and not just some of its parts. The
information will also be used to learn about human biological history, the
biological relationships among different human groups, and may be useful
in understanding the causes of and determining the treatment of particular
human diseases.
At this point, the HGD Project is still in its planning stages.
Researchers have been collecting genetic data throughout this century from
populations around the world, and these data still exist in the scientific
literature and individual researchers are continuing such studies.
Although its organizers had discussed the Project since 1991, the Project
was formally organized only in mid-September 1993. Its North American
Committee has not collected any samples under HGD project auspices. That
collection will not occur until the Project's structure, including its
ethical guarantees, is fully in place.
Different
cultures and different people within those cultures will find different
things important about the HGD Project. We believe most will agree that
one or more of several uses of the DNA samples justify pursuing this
project now and with vigor.
All human groups seem to be interested in their origins; many are
interested in scientific evidence about those origins. The information
this Project gathers may help clarify the history of specific human
populations and of our species as a whole. The frequencies of different
variations in different populations can reveal how recently they shared a
large pool of common ancestors. Those frequencies can be used to see if,
for example, the Irish are more closely related to the Spaniards or to the
Swedes.
The kinds of genetic variation useful for these studies are often
common forms of variation such as the genetic differences among
individuals that are responsible for different blood types or the (as yet
unidentified) genes that lead to some people having narrow noses and
others wide noses; some having dark hair and others light hair. Many other
times, the small differences in DNA that the Project will study may make
absolutely no difference in what the individual is like. These
differences, apparent only at the genetic level, can still be used to help
understand relationships between different populations.
That kind of information will help clarify the major human migrations.
It can help tell us, for example, whether different migrations brought
Native Americans to the Western Hemisphere from Asia or whether a single
group is ancestral to all modern Native Americans. Because migrating
peoples carry their languages with them, and because these are rarely
abandoned, it may be possible to learn how people speaking Bantu languages
expanded through much of sub-Saharan Africa in the last two millennia or
how the Indo-European languages spread through Europe and Asia. It may
tell us who are the closest relatives to the Euskadi (also known as
Basque) people of northern Spain and southern France, whose language seems
unrelated to any other. And it may settle the continuing debate about
whether Homo sapiens evolved to modern humans in Africa or over
the whole world.
The Project will also provide increased knowledge about the factors
that lead to disease or to health, both in the United States and
throughout the world. People vary in their susceptibility to different
diseases, and while much of the explanation will be due to environmental
factors like diet, genetic predispositions play a role in many cases. The
collection and analysis of DNA samples may, in conjunction with
epidemiological evidence, help lead to the identification of genetic
factors in some human diseases and eventually to ways to treat or prevent
those diseases.
These samples can also help resolve some fundamental scientific issues
about how genetic change takes place in humans. How quickly do humans
adapt to changed environments and how is the response made? Such questions
may be answered by the HGD Project.
Without this Project, science will characterize �the� human genome,
with its historical and medical implications, largely in terms of what is
known from a small sample of people of European origin, where most
research in this field is being done. And if sampling is too long delayed,
some human groups may disappear as discrete populations, usually through
urbanization or other forces leading to the loss of their language or the
other characteristics that identify them as a separate group. At a time
when we are increasingly concerned with preserving information about the
diversity of the many species with which we share the Earth, surely we
cannot ignore the diversity of our own species.
These questions are all interesting to scientists. Many of them are
likely to interest non-scientists. One goal of the Project is to find out
what the people sampled would like to learn from the genetic data, and
then try to answer those questions as well.
No. The Human Genome Project is an ongoing international
effort to map the positions of each of the human genes on the chromosomes
and to find the sequence of the chemical building blocks that make up the
genes. It is estimated that these tasks will take at least 15 years. For
several years, the Human Genome Project has done successful work in
mapping and sequencing human and other genomes, with funding, in the
United States alone, of about $200 million per year. The HGD Project plans
to take advantage of many of the technical advances made by the Human
Genome Project, but it is not a part of that Project. The Human Genome
Project aims to sequence "the" human genome, with DNA taken mainly from
individuals likely to be of European ancestry in North America and Europe.
But, like all brothers and sisters, all humans have slightly different
genomes. The HGD Project wants to explore the full range of genome
diversity within the human family.
The HGD Project
has long had a relationship with the Human Genome Organization ("HUGO"), a
non-profit, non-governmental group of scientists that plays a role in
coordinating studies of human genetics around the world. HUGO appointed
the first HGD executive committee as an ad hoc subcommittee of HUGO. In
January 1994, it formally brought the HGD Project under its auspices and
appointed a three-person committee to oversee its relations with the
Project.
Several months earlier, a first draft of more-detailed organizational
plans for the HGD Project were developed at an international meeting of
those interested in the Project. A formal statement of the Project
structure and objectives is in preparation and soon to be released. The
HGD Project has an international executive committee that currently has 13
members, all with limited terms, from North America, Europe, Africa,
India, and Japan. The HGD Project executive committee has two standing
subcommittees, one on ethical issues and one on informatics (the
computerized storage and use of large amounts of data the Project will
generate). The HGD Project executive committee will hold an annual forum,
made up of representatives from international organizations, regional HGD
Project committees, non-governmental organizations, sampled populations,
and others concerned with the Project. That forum eventually will nominate
new members to the HGD Project executive committee.
The HGD Project executive committee has encouraged each region of the
world to create its own regional HGD Project committee. Those regional
committees will be responsible for raising funds in their region and for
overseeing collection efforts in that region. This will allow local
control over the Project and greater sensitivity to local concerns.
Regional committees have been formed for Europe and for North America,
with others in the process of formation in Eastern and Southeastern Asia,
Australia and the Pacific, India, Central and South America, Africa, and
other areas.
The structure of the various committees may vary. As an example, the
North American Committee currently has 13 members, including
anthropologists, geneticists, a lawyer, a law professor, and a
sociologist. Two members of the North American Committee are Native
Americans; one is African-American. The North American Committee is also
creating its own ethics subcommittee. That subcommittee will have about 4
members from the Committee and 5�7 members who are not associated with the
Committee. The members of the ethics subcommittee, like members of the
Committee, will come from diverse ethnic and professional backgrounds.
The HGD Project has
four components: collection, preservation, analysis, and data-base
creation and management.
The definition of a separate human "population" is not precise, but,
using language as the primary criterion, there are between 4,000 and 8,000
distinct human populations around the world. As an interim goal, the HGD
Project would like to collect DNA samples from about 500 of those
populations within five years. In some large linguistic or geographic
populations, which cannot be adequately represented by a single sample,
many samples will be taken from different parts of the population. The DNA
samples can be taken from small and harmless blood samples, from hair
roots, from cells scraped off the inside of a cheek with a tongue
depressor, and from sputum and other biological materials.
The Project will preserve these samples in both central and regional
repositories around the world. Most of the samples will be frozen; some of
the blood samples will be changed into cell lines, which are capable of
producing a large amount of duplicate DNA for study. For only the cost of
making and shipping the duplicate samples, they will be made available to
qualified scientists interested in doing research on them. Such
availability or use of such samples may be limited by contracts between
the HGD Project and researchers, in order to protect the interests of the
sampled populations.
The Project itself plans to carry out some basic, preliminary analyses
of the DNA samples. It might subject all samples to the same set of tests
on variation at the DNA level to provide some uniform data across the
collection.
Once the samples have been analyzed, either as part of the standard
battery funded by the Project or by researchers who have received samples
from the Project, the results of those analyses will be put into a
computerized data base. Information in the data base will be broadly
available to those who want to use the results for legitimate research,
again subject to contractual limitations.
All humans have about 100,000 genes (the exact number is
still unknown) that transmit heritable traits from parents to children.
These genes are encoded in segments of DNA and are almost all contained on
the 46 chromosomes in each of our cells. DNA transmits its information
through the four different nucleotide bases it contains, which are the
"letters" of the genetic code � A, C, G, and T. These bases, when read as
strings of three-letter "words," form the blueprints for the molecules
that make every part of our bodies function. All the DNA in a human
being's chromosomes make up his or her "genome." Some of that DNA actually
makes up genes and transmits useful information; much of it, however, has
no known function.
In almost all humans, almost all genes are almost identical. These
genes have to be very similar or else the bodies they build wouldn't work
and their owners would die. Some DNA bases and sequences can differ from
person to person without changing anything, as they don't seem to have any
effect on how the body functions. Other variants produce such effects as
variation in our height, eye color, fingerprints, blood groups, and
whether we can roll our tongues. Sometimes, particular genetic variants
can lead to susceptibility to disease or to unusual resistance to disease.
Genes of these types exist in all human populations and are of great
interest to medical researchers trying to improve human health and
welfare. And even where the variations are of little, if any, functional
significance, they can tell us something about the human past.
These various kinds of variations -- those in portions of the genome
that do not code for proteins, those changes in the genes that don't
change the resulting proteins, and those that do make some differences in
the body's structure or performance -- are not distributed randomly. The
more closely related two people are, the more likely they are to share the
same variant genes, or alleles. Siblings have a 50 percent chance of
sharing any one allele; less closely related family members have a smaller
chance. To the extent that people who live in a particular area, or who
make up an ethnic group, a nation, or a "population" share common
ancestors, they are more likely to share these kinds of genetic variants
than people who do not share common ancestors. Of course, ultimately, we
all share the same ancestors, but in the tens of thousands of years during
which, for example, the ancestors of Native Americans did not live in the
same region as (and hence did not have children with) the ancestors of
Europeans, those two population groups developed separately. New genetic
variants appeared in each group, and ancestral shared genes are present in
different frequencies. Any one Native American may have the same alleles
as any one European. When one looks at a number of alleles in a number of
Native Americans and Europeans, however, it becomes clear that the two
groups of people often differ in their variant genes. Thus, for example,
the blood groups O, A, B, and AB, all genetically determined, may appear
in all human populations, but often in very different proportions
reflecting the frequencies of the underlying alleles.
Scientists already know at least one interesting thing about these
kinds of genetic variation. Although there are genetic differences between
groups, the extent of such difference is small compared with the amount of
difference found within a group. People within "ethnic groups" are
genetically more different from each other than their group is from other
groups.
As far as
scientists know, no particular genes make a person Irish or Chinese or
Zulu or Navajo. These are cultural labels, not genetic ones. People in
those populations are more likely to have some alleles in common, but no
allele will be found in all members of one population and in no members of
any other. (There may be rare variations, however, that are found only in
some populations.) This cannot be very surprising, in light of the vast
extent of intermarriage among human populations, now and throughout
history and prehistory. There is no such thing as a genetically "pure"
human population.
The Project will
collect samples from populations all over the world. We expect collecting
to involve people who are knowledgeable about both the science behind the
Project and the culture of the sampled population. In some populations,
those experts will be members of the population who have the knowledge and
skills to permit them to evaluate, and explain, the Project. In other
cases, they will be outsiders, often anthropologists who have spent an
extended period with the people, learning their ways.
These knowledgeable people, from inside or outside the population, can
act as cultural interpreters, translating the lifeways, goals, and hopes
of each for the other to help ensure that the population and the Project
understand each other. This is important to guarantee that the population
has really understood the sampling process and the purposes for which the
Project will use their samples and has truly consented to be involved. It
could also help investigators determine what questions interest the
population and to try to sample in ways that may help answer those
questions. No samples will be collected without explicit informed consent
from surveyed subjects, obtained in a way that is culturally appropriate
to that population. This expert involvement also lets the Project maintain
continued communication with the population, in part to give them a chance
to learn any findings from the research of interest to them.
Different numbers and types of samples will be obtained depending on
the circumstances. For some research questions, samples as small as 25
unrelated individuals may be sufficient; to study other problems, larger
samples will be needed.
In all populations that wish to participate, we expect that, after the
Project has been fully explained and has been approved, some blood samples
will be taken. This will involve drawing about 15 to 20 milliliters (less
than an ounce) of blood from each donor. Blood will be drawn only by
trained personnel � usually by health-care personnel. Some people will
give hair-root samples, with DNA taken from the roots of a few hairs,
pulled out of the scalp as is often done with a simple brushing. Others
will give cheek scrapings, where the DNA can be taken from the cells that
are scraped onto a tongue depressor when it is run across the inside of a
person's cheek. Often, sputum is enough. None of the collection methods is
dangerous and only drawing blood involves even minor pain. For scientific
purposes, some personal information will have to be collected about the
donors, such as age, sex, languages spoken, and birthplace, but the
Project will keep the identities of individual donors confidential.
Indeed, such confidentiality is a condition of funding of the Project by
all national and international foundations.
Ultimately, each population will decide whether it wants
to take part in the Project. (Defining the authority that speaks for "the
population" whose approval must be received will be complicated in some
circumstances, but for Native North Americans, for example, that will
usually be an officially recognized tribal government.) To a large extent,
the choices will be affected by which populations have anthropologists or
other experts working among them. The Project expects that, in most
circumstances, individual investigators will apply for grants to collect
samples. Those grant applications will have to show that the population is
willing to be sampled and that the investigator is an expert on that
population, or is affiliated with someone who is, and that the data will
be obtained in a manner consistent with the ethical guidelines of the HGD
Project.
The application should also indicate what, if anything, is of
particular interest in studying that population. Some of the things that
might make a population of particular interest include an unusual
language, culture, or history; an indication of susceptibility to or
immunity from particular diseases; or a possible relationship to another
interesting population. This Project is not an effort to collect samples
from isolated populations in danger of disappearing. It intends to take a
representative sample of all human populations, including those in Europe
and North America. No group is necessarily excluded. In the long run, if
time and money permit, the Project would like to include samples from all
human populations worldwide. But none will be included who do not want to
participate.
In planning workshops, groups of knowledgeable scholars have discussed
the major issues that might be of importance in various regions of the
world. This was done to develop a clearer idea of the potential scope and
nature of the samples that might be needed for the HGD Project to be
successful. Working lists of hundreds of examples of populations that
might be included to answer various specific questions were developed, as
a way of accomplishing the objective of specifying objectives for the
Project. These lists were obtained by various people not involved in the
workshops, some of whom misunderstood their purpose and used them in a way
that incorrectly misrepresents the Project, as if it had already decided
what populations it would include, and indeed, some claims were made in
the news media that the Project had already been collecting such samples.
This was not correct. The Project cannot collect samples from any
population without its prior consent, and since no such consent had been
obtained prior to the sampling workshops, the lists discussed there were
always intended as examples to help focus the discussions.
Some people may object to outsiders studying local indigenous
populations as if this implies they were somehow "unusual" forms of human.
The HGD Project objects to such a notion too! Scientists involved with the
HGD Project are concerned that most human genome research concentrates
only on persons from the major ethnic groups in the industrialized
countries. Indigenous groups are not being served � and this deliberately
ignores their importance as members of the human species. Not knowing
enough about the genetics of such populations may also have medical
ramifications. What is going on now is ethnic exploitation by neglect.
In the long run, most populations will learn more about
what science believes to be its history and origins. Of course, some
populations, in both the developed and the developing worlds, may not be
very interested in what science deduces about those matters, being content
with their own explanations. Nevertheless, even populations that do not
seek scientific explanations for their origins may reap long-term benefits
from the discovery of useful medical information about their
susceptibility to, or treatments for, disease.
The Project wants to encourage researchers to provide useful feedback
to individuals and populations that provide samples. Individuals who want
information about their samples should be given the chance to request that
it be sent to them. Populations should receive timely information about
the Project's findings concerning them, in a way that gives them a chance
to ask further questions. After collection, as well as during it, the
Project's goal is a partnership with the sampled populations.
The Project also hopes to provide some direct medical services as part
of the collection process when it can do so. Health-care workers
participating in the collection process could provide, if requested, some
screening, immunization, diagnosis, or treatment of medical conditions
while working with the population. For example, one of the founders of the
Project, Dr. Cavalli-Sforza, worked for many years with populations in
central Africa. He quickly discovered that many of the people he saw
suffered from yaws, a rare but terrible skin disease. On subsequent trips,
he brought large amounts of antibiotics that cured this affliction.
Although the HGD Project cannot solve the health problems of the
populations it samples, when feasible, and authorized by the appropriate
governmental authorities, it would like to provide some medical services
as part of its collection efforts.
No, the
Project does not intend to patent the samples or any products made from
them. The Project is not a commercial enterprise. It seeks knowledge, not
profit. At its international congress in September 1993, the Project
decided that it would not profit from the samples or the data developed
from them. It further decided that it would try to guarantee that, if any
products were developed as a result of samples obtained from sample
repositories or data banks operated by the Project, some reasonable
financial benefits would flow back to the sampled populations.
The developing world believes that the seed and drug companies from the
developed world have long exploited their plant genetic resources. These
companies, they believe, freely gathered plants from the developing world
-- often variants that had been domesticated, developed, and maintained by
generations of indigenous farmers. Without paying anything to the farmers
or their country, the companies used those resources to create patented
products that were then sold back to the developing world at high prices
for large profits -- with none of the profits returning to the plants'
original users. Some in the developed world would dispute whether this
belief is entirely accurate, but all agree it has some validity. This
concern about the developed world's exploitation of the plant and animal
genetic resources of the developing world played a major role in the 1992
Biodiversity Treaty.
Some advocates for indigenous peoples or the developing world have been
concerned that the Project will be a human version of these plant-
collecting expeditions. It will not be.
First, it is not clear whether any commercial products are likely to
emerge from its samples or data. More important, even if commercial
products were created using the Project's samples, the HGD Project is
committed to two propositions: (1) that financial benefits should not go
to the Project and (2) that an adequate part of the financial gains, if
any, must go back to the sampled populations. The best ways to implement
those commitments are not yet entirely clear. Implementation depends on
some complex issues of patent and contract law that have not been entirely
resolved, as well as on some decisions by the sampled populations or their
representatives on how best to proceed. The Project plans to make those
implementation decisions after consultation with such representatives.
But, whatever method ends up being chosen to implement the Project's
commitments, the commitments themselves are firm. The HGD Project will not
profit from the samples and it will do its best to make sure that
financial profits, if any, return to the sampled populations.
No population should take part in the Project because it expects to
earn royalties from pharmaceuticals. We do not know whether any commercial
products will come from the Project, let alone whether samples from any
one population will lead to valuable products. But the Project can promise
to share with the sampled population the information derived from the
samples � about history, medicine, or other topics. And, in many cases,
the Project may attract useful outside attention to populations that are
struggling with abuse or exploitation.
Genocidal use of
genetics is not possible with any currently known technology. On the basis
of what we know of human genetic variation, it seems impossible that it
will ever be developed. The Project would condemn and bar any effort to
use its data for such purposes. The highly visible nature of the Project
and its ethical constraints should make even the attempt less plausible.
No. "Growing" humans (or even dinosaurs) from DNA
samples is science fiction and will remain that for many decades to come
-- and quite possibly forever. And, even if that were possible, someone
who wanted to do it probably would not want to collect DNA samples through
the open and public method of the HGD Project.
This research can be done better and more efficiently if
it is coordinated. The HGD Project's structure should minimize unnecessary
duplication. It should allow different researchers to share information,
both about useful techniques and about their results. And it will enforce
some coordinated consideration to and oversight of the ethical, legal, and
social issues involved in the Project. A worldwide project would also help
protect the rights of the sampled populations over any commercial uses of
their samples. The alternative to a unified project -- a thousand
independent researchers, each pursuing his or her own project -- might
prove to be both chaotic and invisible, opening the door in some cases to
abuse. And the resulting samples could be useless or even misleading if we
did not understand how they were collected, as has often happened to date.
The costs of the Project will depend on its
breadth. The Project initially estimated that it would take five years to
carry out its planned work and would cost about $25 million worldwide. If
less money is available, the Project will proceed more slowly.
Each region is seeking funding independently. The North American
Committee hopes for substantial governmental funding, but neither Canada
nor the United States has yet decided whether to support the Project. In
the United States, the Project is particularly interested in funding from
the National Science Foundation and the National Institutes of Health. The
North American Committee also plans to seek some funding from private
foundations, but it does not intend to seek funding from commercial
sources. Thus far, the North American Committee has received only small
planning grants from several United States agencies. Those planning grants
were used to hold four planning meetings in 1992 and 1993. Those grants
are now nearly exhausted. The North American Committee has just received a
grant from the MacArthur Foundation for preliminary work on ethical
issues, communications, and other foundational efforts.
Within Europe, funding of about $500,000 over two years has been
received from the European Community's Human Capital and Mobility Program
to establish a network of laboratories interested in the Human Genome
Diversity project. Other regions will also be seeking money from other
governmental or private sources.
Perhaps, but
there is no reason to believe that it would be better spent. In a
world where poverty and disease are widespread, almost any expenditure of
funds would relieve more human misery if used for direct assistance. Many
of the populations this Project will study live in dire poverty or under
oppressive regimes. But $5 million per year, an outer limit of the
Project's hopes for funding as far as we can foresee today, would not go
far toward solving those problems, even in North America. And there is no
reason to believe that those funds, if not spent on the Human Genome
Diversity Project, would be spent on relieving poverty. More likely, they
would be spent on another scientific project . . . and a project that does
not help emphasize the importance both of human diversity and of the
extraordinarily close relationship of the human family.
If you want more information about the Human
Genome Diversity Project, please contact the Morrison Institute for
Population and Resource Studies, by mail at Stanford University, Stanford,
California 94305-5020; by fax at (415) 725-8244; or by e-mail through the
Internet at [EMAIL PROTECTED] The Institute's staff will
direct your inquiry to the proper member of the North American Committee.
Alternatively, if your question focuses on the ethical, legal, or social
implications of the Project, please contact the chair of the North
American Committee's ethics subcommittee: Professor Henry T. Greely,
Stanford Law School, Stanford, California 94305-8610. He can also be
reached by fax at (415) 725-0253 or by e-mail through the Internet at
[EMAIL PROTECTED]
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