Report of Subcommittee on Bioethics and Population Genetics, of the UNESCO
International Bioethics Committee. Final version - 15 November, 1995. This
report represents the views of the subcommittee members listed at the end of
this document.
Contents
1. Population genetics
1.1. What is population genetics?
1.2. Main trends in population genetics research
1.2.1. Genetic epidemiology
1.2.2. Genetic screening
1.2.3. Spatial and temporal variation
1.2.3.1. Multidisciplinary approaches
1.2.3.2. Human Genome Population Diversity Project
1.2.3.3. Analysis of ancient DNA
2. Ethical issues of population genetics research
2.1. Philosophical basis
2.2. Research approach and methodology
2.2.1. Informed consent
2.2.2 Selection and participation
2.3. Utilisation of research results
2.3.1. Confidentiality
2.3.2 Patents
2.3.3 Returns of benefits
2.3.4. Anthropological uses of the genetic knowledge
2.3.5. Other issues arising from use of research results
3. Public understanding
3.1. Ideologies
3.1.1. Racism
3.1.2. Eugenics
3.1.3. Stigmatisation
3.1.4 Genetic reductionism and Holistic World Views
3.2. Bioethics and genetics education
4. Conclusions and Recommendations
4.1. Summary and conclusions
4.2. Guidelines and Sanctions
1. Population genetics
1.1. What is population genetics?
Population genetics is a discipline studying genetic variation in defined
populations, including relevant aspects of population structure and geographic
variability of DNA sequences and their frequencies. Their changes in time and
space are controlled by evolutionary factors, among which population
geneticists recognise as most important: mutation, natural selection (i.e. differential
mortality and fertility of genetic types), drift (stochastic fluctuation tied
to the demographic size of populations) and migration. Population genetics
deals with the characteristics of genes within a population as opposed to the
description of the genes in a particular individual. In this report we refer to
human population genetics, but the term "population genetics" also
applies to all other living organisms.
The biological relationships of human population groups and the theory of
evolution can be studied as questions of broad interest to the understanding of
human history. Population studies are not new, and in fact large surveys have
been conducted all over the world in the last eighty years. Classical studies
of genetic diversity have been dealing with antigen, protein and enzyme
polymorphisms, for example HLA or blood groups. Modern genetic studies are
based on the molecular analysis of DNA polymorphism. Classical studies look at
expressed sequences, which represent less than 10% of the genome, whereas
molecular genome diversity studies are mainly concentrated in parts of the
genome that are often not expressed at the phenotypic level.
1.2. Main trends in population genetics research
1.2.1. Genetic epidemiology
Isolated populations are the main source for observation of genetic forces
acting in human evolution. While gene frequency across different populations
varies for specific diseases; the total effect of genes on mortality appears
similar. Pedigree information can be used to observe migration, to measure the
mean-inbreeding coefficients, or to trace the linkage of disease. The method
used to make a pedigree sheet, and the information sought, depends upon the
objects of investigation, the quality and quantity of basic data, and their purposes.
In some studies, additional clinical investigations on the hereditary diseases,
or common diseases of polygenic inheritance, are included. These
epidemiological surveys have been conducted at the ethnic, regional or
transnational level, according to the disease studied (e.g. Tay-Sachs disease
in Ashkenazic Jews, cystic fibrosis in Europe, North America and recently other
countries).
Comparative studies can be made on the differences in the mortality and
fertility as well as on anthropometric data between consanguineous and
non-consanguineous groups. They can be used to test genetic susceptibility
using polymorphic markers in different communities, which can also examine
genetic susceptibility to environmental agents. This makes possible the prevention
of certain multifactorial diseases by careful avoidance of exposure to
environmental agents.
Consanguinity and large family size are very interesting for population
genetic studies, but studies of consanguineous marriages of families have the
potential to raise numerous ethical and social issues. There are opportunities
for genetic epidemiological research in countries where consanguineous marriage
is a long-standing tradition. Such research projects can use data from many
sources, for example, birth and death records, family register books, or
anthropological or medical surveys, and socio-economic data in order to test
inbreeding effects.
1.2.2. Genetic screening
Population genetic studies are not new. What has evolved very quickly is the
technology and level of analysis. The first genetic studies in populations came
from surveys all over the world looking at frequencies of single gene diseases.
This was followed by the laboratory analysis of blood samples for the
establishment of allele frequencies of blood groups, HLA proteins and enzymes
all over the world. Some of these studies were done on banked blood samples
that were anonymous in character. Others were conducted however, on sampled
individuals from target populations, some large and open such as the Europeans,
or small and isolated, like the Basques - linguistically, culturally,
religiously or geographically isolated.
Based on these studies, mass screening programs for particular disease genes
were adopted as was the case in Cyprus for thalassemia, or in many countries
for PKU in newborns. Genetic screening and genetic testing have been discussed
in another report of the UNESCO International Bioethics Committee, and by
numerous other persons and organisations over the last twenty years (recent reviews
include: Chadwick et al., 1993; Murray, 1993; McCarrick, 1993; Nuffield
Council, 1993; Nielson & Nespor, 1994). Many of the issues in current
genetic screening programmes are relevant to population genetics research, but
some significant issue are different, such as the notion of group consent.
Moreover, while at present we are focusing on research we should also foresee
the applications and benefits flowing from the human genome project that could
well apply to whole populations. Therefore the ethical considerations must be
carefully treated, since whole groups of asymptomatic individuals are the
targets rather than single individuals who come forward themselves.
1.2.3. Spatial and temporal variation
More recently, molecular biology has enabled geneticists to work out the
spatial and temporal variation of gene frequencies. Several projects have
started independently in different countries others, such as the human genome
diversity project (HGDP), proceed as an international addition to the human
genome project (HGP). Some studies look at molecular variation among
populations, whereas others analyse genetic diversity in the broader cultural
context. Samples could be, and frequently are, analysed from all over the
world. However, for genetic studies the more isolated homogeneous human groups
are thought to be the most informative. Some of these studies focus also on
ancient DNA, since links between present day human groups are presumably to be
confirmed through ancestors of those human groups which are alive today.
1.2.3.1. Multidisciplinary approaches
Genetic diversity is increasingly being seen in a much broader context. In
some cases, local geneticists have been interested in the study of human diversity
of the indigenous inhabitants of their countries, understanding from the
beginning that only an interdisciplinary, holistic approach to this issue is
capable of providing a reasonable view along with a reevaluation of cultural
and genetic diversity of populations. In this report the word indigenous is
used in a broad sense to mean a person that lives in a given part of the world,
but not only meaning the original inhabitants (cf. UN Economic and Social
Council, Commission on Human Rights, reports on Indigenous Peoples). Research
projects covering most disciplines, including anthropology, architecture, arts,
bacteriology, dentistry, design, musicology, nursing, nutrition, philosophy,
and medicine, as well as health care services, provide joint efforts to perceive
all the peculiarities of isolated communities and give a much broader picture
of, for example, the cultural and biological responses to environmental
conditions and their understanding of health and disease, the natural laws that
guide agriculture, settlement and architecture, and their cosmogonies.
This trend to involve broad multidisciplinary approaches in studies of
populations, allowing for the participation of the community in the research,
is exemplified by the "Expedicion Humana" in Colombia, where the
Human Genetics Institute from Javeriana University invited the whole University
to join them. The aim of the "Expedicion Humana" is to study the
human diversity (cultural and biological) of a region of America which has been
an important point in its populating and in its migrations from Asia to
America. Teams of people from different disciplines travel to the communities.
In each community that had previously been contacted and asked for consent, the
investigators explain the different aspects they are interested in before once
again asking for consent.
The information collected through all means (questionnaires, drawings,
records, etc.) is then analysed some of which has already been published in a
series of books. This information is given back to the community, in an attempt
to provide useful analyses for the community itself.This approach to the study
of the diversity of populations is less reductionist than just looking at their
genes, and we would recommend such more humanistic ways of understanding the
role of science and scientists. It creates, however, the expectation of follow
up and continued intensive interest - essentially a complete medical service -
which may be difficult to maintain unless special structures were created,
which would be expensive. This is usually outside the power of individual
researchers or research groups, and requires strong external financial
interventions, most probably by governments.
1.2.3.2. Human Genome Diversity Project
One example of population genetics research is the Human Genome Diversity
Project (HGDP) described by L. Cavalli-Sforza as "an international
anthropology project that seeks to study the genetic richness of the entire
human species" (Cavalli-Sforza, 1994). The name comes from a proposal in
1991 in the journal Genomics to make a systematic study of the genetic
diversity of human populations. However, like the Human Genome Project, it
shares a much older origin in the work of population geneticists over many
decades (Macer, 1991; Cavalli-Sforza et al., 1994; Cavalli-Sforza &
Cavalli-Sforza, 1995). The Human Genome Organisation (HUGO) responded to the
1991 proposal in the journal Genomics by establishing an ad hoc committee to
develop the global project. In January 1994 the Council of HUGO approved HUGO's
continuing oversight of the development of the HGDP (HGD Committee of HUGO,
1994; Kahn, 1994). The HGDP is being developed under the auspices of HUGO to
promote global involvement and coordination.
The scientific aims of the HGDP stated in the 1994 HUGO Summary Document
are:
a) "to investigate the variation occurring in the human genome by
studying samples collected from populations that are representative of all of
the world's peoples,"
b) "and ultimately, to create a resource for the benefit of all
humanity and for the scientific community world-wide. The resource will exist
as a collection of biological samples that represents the genetic variation in
human populations world-wide and also as an open, long-term, genetic and
statistical database on variation in the human species that will accumulate as
the biological samples are studied by scientists from around the world."
The main scientific value of the HGDP is:
a) deepening our understanding of human history and identity.
b) gaining knowledge about the environmental and genetic factors involved in
predisposition and resistance to disease, so-called genetic epidemiology.
c) encourage the development of local laboratories where the collection of
genetic samples will be collected and analysed.
Even though to date there have been numerous studies on the development of
culture, language and population genetics (e.g. Cavalli-Sforza et al., 1988;
1992; Sokal et al., 1992; Feldman & Zhivotovsky, 1992), and some
consistency between genetic, cultural and linguistic observations has been
found, a survey of more populations in a more systematic way will extend what
we already know and test current theories.
Linguistic differences suggest there are about 5,000 population groups in
the world. In the short term the HGDP will attempt to study about 500 of these
populations. Even if some populations refuse to enter the project, there are
still many other populations that could be surveyed. It is expected, then, that
the project will be able to obtain samples from a large number of willing
populations. If funding does not permit such wide sampling there is still
scientific merit in collecting data from a smaller number of populations (e.g.
Cavalli-Sforza, 1995).
The HGDP initially planned to centralise the collection of samples from
isolated populations, some of which are already under investigation in
population genetics research. This led to fears among some members of
indigenous groups that the knowledge could be used for further ostracisation
(Lock, 1994). However, the HGDP is now moving away from both the idea of
central control to regional control and from the focus on indigenous
populations, to include all populations. Personal anonymity would be maintained
by not having the names of individuals in the central repository, and by
observance of established privacy rules.
The establishment of cell lines allows maintenance of a permanent record of
the DNA of individuals of a population. At least two independent and physically
separate collections in different countries should be kept, to maintain the
resource. The HUGO HGDP committee has said that access will be free, with some
compensation for maintenance costs. Any data would be shared back into the main
database, which would also include computer databases of genetic map and
sequence data. There are also efforts to develop less expensive storage and
microsatellite marker techniques that can be used in local laboratories that
have limited resources, to ensure their fuller participation.
1.2.3.3. Analysis of ancient DNA
One of the recent trends in genetic studies is the analysis of ancient DNA
samples, from fossils, preserved body remains, hair, or basically any body
remains that contain DNA. There are scientific doubts about how much mutation
occurs over the course of time the remains are kept in storage. However, these
materials are providing an extra source of material for evolutionary studies.An
example of the possible use of ancient DNA samples is the 7,000 year old frozen
corpse found in the Austrian Alps has been used for analysis (Bahn &
Everett, 1993). However, it may be impossible to find the appropriate persons
to give consent. The question of consent is also related to the use of tissues
from those who are recently deceased. In 1995 an urologist extracted sperm from
a corpse in the New York city morgue at the request of the deceased man's
widow. The sperm is in cryo-preservation awaiting the widow's entry to a local
IVF clinic ("Sperm extracted from corpse is world first", Guardian,
21 January 1995, 12). Specific cultures may have very strong objections to
these practices. DNA samples can be taken from the recently deceased and even
sacred but archaeologically interesting sites such as tombs or battlefields.
There could be no doubt that such samples would provide all sorts of
interesting historical insights about the continuity of racial settlements and
migration. Should however the anthropological interests outweigh the cultural
and religious values about respect for the dead?
The ownership of these samples is sometimes claimed from those who believe
the persons were their ancestors. In Israel there is a law requiring immediate
reburial of all ancient body remains no matter which religious group they are
thought to come from (Morell, 1995). In Australia there are laws to require
return of tribal ancestors for tribal disposal rites. In both these cases
scientists have been prevented from physical anthropology studies by such laws.
This raises the question of group consent concern which will be discussed
later. Peoples of most countries who have lost persons in war or disasters also
call for the return of human remains. Can samples be taken?
2. Ethical issues of population genetics research
2.1. Philosophical basis
The ethics of population genetics should be formulated with reference to the
minimal agreed human values as expressed in international human rights law.
These agreed human values are based upon recognition of the inherent dignity
and of the equal and unalienable rights of all members of the human family. The
rights of particular cultural groups to self-determination, including the
safeguarding of cultural norms which are not in conflict with fundamental human
rights, are then to be respected by research scientists. The Universal Declaration
of Human Rights and the various treaties codifying human rights that have been
developed from it are now all part of international law (Harris 1991). Not only
are all nations bound by human rights obligations in international law, so also
are (1) international organisations, (2) certain special entities such as the
Vatican, (3) special individuals such as diplomats, aliens, refugees, slaves,
minorities, and (4) persons, corporations and governments. Individuals are
bound by the ius gentium in so far as human rights are at issue (Green 1987).
Central to our human rights obligations is the promotion of "respect
for, and observance of, human rights and fundamental freedom for all without
distinction as to race, sex, language, or religion." (Charter of the
United Nations, Article 55 (c). The Universal Declaration of Human Rights is
founded upon the notion that there are universally recognised human values and
that these values are inherent in the human individual. In the Preamble the
Declaration states that "the foundation of freedom, justice and peace in
the world" is the "recognition of the inherent dignity and of the
equal and inalienable rights of all members of the human family." (Fleming
1995).
The equality with which "all members of the human family" are to
be treated as far as human rights are concerned precludes all attempts to
exclude from moral consideration human beings deemed to be non-persons. There
is no philosophical agreement in the international community as to what
constitutes personhood. Accordingly Article 6 of the Universal Declaration on
Human Rights (1948) and Article 16 of the International Covenant on Civil and
Political Rights (1966) require that every member of the human family be
treated as a person, that "everyone has the right to recognition
everywhere as a person before the law."
Respect for these fundamental human values, expressed as human rights, is
the essential requirement of a civilised society, even though there are some
cultural differences in the expression of this respect. It stands against the
eugenic temptation to reduce the value of a human individual to the sum total
of its genes. Human individuals have an "inherent dignity". The human
rights documents do not give a reason why human beings are to be seen as having
unique value. They simply bear witness to the fact that the international
community agrees that each human individual is to be counted as valuable as any
other human individual. Jacques Maritaine (1954), for example, noted the
practical convergence on fundamental values despite profound disagreement on
ideology. Despite all the difficulties it is possible, "as the
International Declaration of the Rights of Man published by the United Nations
in 1948 showed very clearly ... to establish a common formulation of such
practical conclusions." When one asks the question as to why these rights
or values ought to be accepted the debate over the religious and philosophical
foundations for human rights begins. There are also some political disputes
over how human rights are to be interpreted within the framework of
international law.
The ethical framework within which scientific research is conducted should
also be in accordance with the ethical norms current in the culture where the
research is being conducted, recognising that the degree of importance accorded
to communitarian values, varies between and within countries, populations and
groups. This latter point has been well acknowledged by the recognition that
"minimum ethical principles must be formulated, recognising that, in the
process of collecting, the human rights of people in participating populations
should be respected and that these people are partners in work rather than
merely subjects of it. Any particular region may have broader ethical concerns
than those addressed here, which should only be considered as a minimum."
(HGDP, 1994).
2.2. Research approach and methodology
2.2.1. Informed consent
The importance of obtaining consent from a study population is well
recognised (even if not always practiced). Population genetics studies should
be conducted by personnel with the appropriate qualifications, but only after
informed consent has been given for any general medical examinations, and removal
of blood samples (generally under 20ml) or other bodily samples. Such samples
are taken to the home laboratory or other laboratories, and the components
separated for analysis. The analysis of the samples requires specific consent
that should be sought and given before samples are obtained (cf. Baird, 1995).
By the term "specific" consent we mean it could include consent for
complete genetic analysis of the DNA, or analysis for detailed purposes, but it
should be clarified and informed.
The doctrine of informed consent is applied to both medical treatment and
research. Before a person is asked to consent to any sampling or treatment they
must be provided with certain information. This information includes at least
the following, which must of course, be presented in language the patient can
understand:
a) a description of the procedure - which is generally easy, and should be risk
free if accepted medical procedures are used for sampling.
b) a description of the risks and benefits of the resultant information.
It is worth noting that the need for consent to be "informed" may
be objectively impossible to achieve. Even when correct information is
carefully presented in culturally appropriate ways, it cannot be guaranteed
that it has been understood. The ethical obligations that are achievable
include accurate delivery of information together with the disclosure of
relevant risks and benefits to the individuals and communities involved, in
language that is accessible to the potential research subjects, and having
regard to the legitimate cultural and religious needs and aspirations of
particular communities, especially in the way in which consent is ultimately
given. We should not speak so much, then, of "informed" consent as of
an obligation or duty on the part of scientists to properly inform potential
participants.
The application of the ethical principle of informed consent and respect for
integrity is a more complex process at the level of populations. In order to
ensure that that potential subjects understand the goals of research, the risks
involved, the use to which research results could be put, and the rights of the
groups and individuals under study, careful consideration is needed. The lines
between genetic testing of individuals, genetic screening within one's own
population, and population genetics research of other populations and groups,
are not always clear. We do not ethically require group consent for most
genetic testing, though society may draw the line at the freedom of choice to
use genetic probes for non-therapeutic purposes (e.g. sex selection is banned
in several countries). The fact that some recent population genetic studies may
involve investigation of several hundred genes between single individual
representatives of different populations makes the question of group consent
extremely difficult.
There are various levels at which consent may need to be obtained for
studies of population groups. High level governmental approval is in many
countries mandatory for studies on specific populations of persons. Such
official clearances need in every instance to be complimented by consent from
the individuals and the local groups/communities selected for study - whether
the consent is obtained directly or through formal/informal leadership, group
representatives, or trusted intermediaries.
It is important to identify the most appropriate persons with whom to
communicate, the persons from whom clearance should be obtained, and the
appropriate content and media of communication. Research will need to take
account of the group's social organisation, goals and aspirations, cultural
values and mores, and laws (both statutory and customary). If the research
methods involve the use of saliva, skin, hair, or blood samples it is necessary
to ensure that the collection of these body samples does not violate cultural
norms and concepts relating to the human body and its functions.
The ways of approaching the communities must always take account of the
particular social and cultural organisation and laws. Sometimes the leader or
the individual chief of a family or familial group is the person who gives
consent for the other members of the community to participate in the enquiries
and biological sampling. These persons may be difficult to identify. Of course the
most difficult group consent question is who can give group consent for the
genome project itself - a question that no one has been able to answer (Macer,
1991).
Various groups of indigenous peoples have expressed their irritation with
past population genetics research which they claim has been conducted without
prior consultation and in a way where consent was obtained in terms
inconsistent with their cultural norms. Practitioners of contemporary science
do not always understand that the goals and aspirations of scientific projects
may not always coincide with the goals and aspirations of particular cultures.
It may not be ethically acceptable to some people to cooperate in the
collection of saliva, skin, hair and blood samples for the purpose of storage
and the establishment of "transformed cell lines", samples which
would be basically identical to the individual of origin which are then made
available for study to scientists around the world. Therefore many
representatives of indigenous peoples have expressed strong concerns about the
HGDP.
An important outcome of this concern and the HGDP project may be the more
active participation of some individuals of the community in the research
projects, as well as in the better formulation of precise questions that
researchers try to answer through their observation or laboratory work. These
concerns apply to sampling within any population genetics project.In order to
bridge gaps between scientific goals and aspirations on the one hand, and
cultural goals and aspirations on the other, it will be necessary for
scientific information to be communicated to individuals and communities in
terms that can be understood by those communities, and if they exist, by
individuals acceptable to, and counted as trustworthy by, those communities.
It will not only be necessary to identify the correct person or persons to
give scientific information, but also to identify to whom the information
should first be given, and what cultural mechanisms apply to the giving of
consent. This will involve taking account of the fact that individualised
notions of obtaining consent which tend to dominate in liberal Western
societies cannot be applied carte blanche to people of other cultures. In
secular liberal societies consent is seen as an "informed" expression
of an individual's self-will and autonomy. Consent is deemed to be informed if
the subject is exposed to all relevant information, including risks. Other
cultures of course may place greater emphasis on the advice of leaders who represent
the continuity with traditional wisdom, or with the fate of family or group
members. Relevant factors for moral decision-making in communitarian societies
may derive from sources not as empirically accessible as medical data.
The moral and spiritual values which have profoundly shaped the cultures of
different population groups may well result in deeply held convictions
regarding bodily and familial integrity (Paulette, 1993). Information about
genetic inheritance is loaded with emotional, historical, cultural, and
religious significance, which may differ in different cultures and religions.
The form in which the consent is given needs to be culturally appropriate as
well. Not all communities are governed by bureaucratic paper consent forms and
written signatures. The form in which consent is given will need to be
discussed and agreed upon by each community.
2.2.2 Selection and participation
The participation of the study group in various stages of research is one
good way of keeping open communication and of developing trust between
researchers and research subjects. Such anticipation may take various forms
depending on the situation. In international research projects, the involvement
of the local scientists, if possible, and consultation with local groups, is an
effective way of ensuring that communities or indigenous populations are
treated with sensitivity, respect, and wisdom.
The style and norms that have governed international scientific research
have changed over time. However, the values that express themselves in
contemporary human rights documents are very ancient and have become the
subject of international agreement in international law. Notions of informed
consent are nearly fifty years old but depend in turn on those same human values,
such as respect for human life, and which derive from the notion of the
inherent dignity of the human person.. Scientists must think and plan research
projects well. Initially this can be done independently of the persons who
might become involved. However, before seeking to implement those plans they
need to refine their protocols where necessary to conform to established
guidelines for research on human subjects. This has not always been done. It
has been recently revealed that biomedical experiments were performed on more
than 23,000 persons in about 1400 different US Defence Department projects for
over 30 years after the Second World War, and in which the requirements of
informed consent were neither sought nor met. The selection of target
populations included soldiers, prisoners, those considered to be mentally
defective (both children and adults), hospital patients with terminal
illnesses, and pregnant women. Despite the fact that these were all vulnerable
persons whose involvement in research needed special ethical scrutiny, informed
consent was generally not sought at all or not given (Estling, 1995).
Scientists need to be particularly sensitive to projects involving human
subject populations that have a history of facing discrimination, and need to consider
not only the detailed planning of that research but also the human rights of
the potential subjects, including the requirements of informed consent.
The planners of the HGDP got off to a bad start with misunderstandings and
fears widely expressed among indigenous peoples. Because the HGDP was planning
to collect blood samples some groups called the HGDP the "Vampire
project" (Lock, 1994), while other groups were angry because they believed
that they were possible target populations even though no community
representatives had been contacted about the Project. The Mataatua Declaration
on Cultural and Intellectual Property Rights of Indigenous Peoples of June 1993
is a call for a halt to the HGDP until its impact has been discussed. Article
3.5. of the Declaration calls "for an immediate halt to the on-going
'Human Genome Diversity Project' (HUGO) until its moral, ethical,
socio-economic, physical and political implications have been thoroughly
discussed, understood and approved by indigenous peoples". The Declaration
is actually not anti-science, and includes a call for involvement in scientific
research, recommendation 2.11, "Ensure current scientific environmental
research is strengthened by increasing the knowledge of indigenous communities and
of customary environmental knowledge".
In fact the HGDP included all populations, not only indigenous populations.
Since that time, the HGDP goals have shifted somewhat, but there has been a
series of Declarations directed against this project (Mead, 1995). The HUGO HGD
Summary Document includes ethical guidelines which do address the question of
participation, consent, and commercialisation (HGD, 1994). Nevertheless, the
controversy continues. In February, 1995, a forum of Indigenous Peoples in Asia
issued a statement to the European Parliament in which they strongly opposed
the HGDP and called for it to be stopped (ARCW, 1995). The Beijing Declaration
of Indigenous Women formulated at the United Nations Fourth World Conference on
Women (30 August - 8 September 1995) demanded "that the Human Genetic
Diversity Project be condemned and stopped" and that their
"intellectual community rights" be recognised.
However, on 6 July, 1995, the Science and Technology Committee of the House
of Commons (UK) gave its support for the project in these terms (UK, 1995):
"We consider that the Human Genome Diversity Project could indeed lead to
greater understanding of events in human evolution. If differences between
populations are not explored soon, the evidence will be lost. The Project
should be pursued in its total context of diversity within as well as between
populations if it is not to be misunderstood or misrepresented." However,
as the project guidelines themselves acknowledge, obtaining real informed
consent from the cultural diversity of peoples who will need to participate if
the Project is to be a success will be a challenge.
Therefore we would urge researchers to consider the history of the group
that they plan to include in their research, taking into account matters not
only of scientific interest, but also the ethical, social and ideological
impact on the group as a consequence of the research. The funding mechanism for
the Human Genome Project in the European Community was delayed until a system
for funding ethical, legal and social impact (ELSI) issues was established. In
Canada up to 13% of the Human Genome Project has been spent on ELSI and
educational issues, and in the USA 3-5% is allocated. We would also urge HUGO
to continue its commitment to looking at these issues from an international
perspective; their ELSI Committee has met only twice. First in 1992, then in
October 1995 to focus on population genetics, and plans to meet in 1996. The
ELSI issues do not only relate to genome research, but to all of genetics, and
science.
2.3. Utilisation of research results
2.3.1. Confidentiality
As has already been well documented from the practice of genetic screening,
the personal impact of genetic information is significant. These issues,
related to individual privacy and possible abuse of genetic data by insurance
companies and employers, have already been discussed in the UNESCO IBC Genetic
Screening Subcommittee Report of 1994.
DNA collected from population groups would present analogous problems
relating to the adequate protection of privacy (Annas, 1993); but the meaning
of privacy could vary across cultures. Furthermore, it is important to note
that in population genetics research confidentiality issues have to be considered
at the community level as well as at the individual level.
One way of ensuring confidentiality for individuals would be not to collect
or keep identifying information in the central repository. This would, however,
limit the scope of research that could be done. Confidentiality for individuals
in human population genetic research may be protected to a certain extent
through coding and anonymity, with strong safeguards to protect the identifying
information that is kept in the central repository. There may be cases where
useful information for a person may be found, which may be released to
individuals who should have been asked, when the information was collected,
whether or not they want to know.
Confidentiality is more difficult to maintain at the level of communities.
Although information regarding the identities of community samples may be
restricted, in all probability, anyone who really wanted to identify
communities may be able to do so. The difficulties involved in guaranteeing the
maintenance of absolute confidentiality of communities and population groups
should be discussed in the process of obtaining informed consent.
If all members of a community, or a population group, were found to have a
gene that predisposes them to a common late onset disease, for example, could
that information be protected? Health insurance companies could cancel or
refuse health insurance to a population, in the same way that health insurance
has been denied to individuals or members of a family in countries that do not
prohibit genetic discrimination by law.
In several countries, these cases have led to legislation on genetic
privacy. Although the principle of confidentiality is included in the Outline
of the UNESCO Declaration on the Protection of the Human Genome, further
national efforts to protect against such abuses may be required. Nevertheless,
it should be noted that in the future it is possible some genetic information
about a particular minority could be exploited by states for political
purposes, leading to further repression or to justify continued repression.
This also raises the question of who should be in control of the genetic
information that has been collected. For example, if national governments want
the repository to be in their country and subject to their control, should this
be allowed? Although the keeping of genetic information on Third World
populations in central repositories of the west may be politically
objectionable, the idea of maintaining repositories in a country under a
repressive regime is certainly not preferable. One of the main issues is
whether the genetic information is predictive or identifying.
2.3.2. Patents and Financial Benefits
Patenting has become an issue in population genetics primarily in relation
to the patenting of products derived from the genetic material of indigenous
peoples. In 1993, a patent filed by the United States government on the cell
line of a 26 year old Guaymi Indian woman from Panama was opposed by the Guaymi
General Congress, the World Council of Indigenous Peoples, the Rural
Advancement Foundation International, and the World Council of Churches (RAFI
Communique, Jan/Feb 1994). The patent claim was subsequently withdrawn, but on
March 14, 1995, genetic material isolated from a man of the Hagahai people from
Papua New Guinea's remote highlands was patented in the USA, and the decision
maintained after challenge. Other patent claims are also being opposed (Butler,
1995).
These patent applications have served to cast deep suspicion on the
motivation behind human population genetics research in general. Although the
primary aim of most researchers is the pursuit of knowledge, and not commercial
gain, and scientists with other motives may be excluded from particular
projects as the HGDP maintains, nevertheless, the possibility is that products
derived from genetic material collected in population genetics research could
be patented for commercial purposes. Moreover, as in the case of Moore vs
Regents of the University of California (1990) (Nuffield Council, 1995) where
the Supreme Court of California ruled that John Moore does not have property
rights in the cells taken from his body, the people who take part in population
genetics research may stand to gain nothing from whatever patents that are granted
on products derived from their genetic material.
At present, opposition to patenting of human genetic material is being
mounted on two levels. On the first level is the opposition to any patenting of
"life", which includes microbial, plant, animal and human life. The
grounds for this may be religious, or cultural. Some indigenous groups have
voiced their objections on this premise. Indeed, the patenting of naturally
occurring life-forms is objectionable for many cultures. Since genetic material
is seen as part of what constitutes life; as such, patenting transforms this
material into a commodity that can be owned and traded in. There are a variety
of arguments that are used to support this position, including lack of evidence
that patents do stimulate invention, distinction between discovery and
invention, need to allow access to the organisms, extended protection, the
ideas of biotechnology were developed in the public, there is no special reason
to privatise public goods, and a need for uniform utility patents (Busch,
1995).
On the second level, patenting is opposed on the grounds that people from
whom genetic material is taken are not likely to receive any financial benefits
from it. This opposition arises from past experience in which large corporations
have collected genetic material and knowledge from the Third World and from
indigenous populations, and then used these to develop and patent agricultural
and pharmaceutical products without any benefits accruing to the original
donors of the material or of the knowledge. When the International Board for
Plant Genetic Resources was funded in the 1970s, for example, it created a
public domain resource of 125,000 plant germplasm specimens. In fact, more than
90% of all the plant germplasm collected in the South in the last two decades
has ended up in gene banks in Europe and North America (RAFI Communique,
1993a). This material has been the source for the development of products worth
billions of dollars to farmers and agribusiness in the industrialised world as
companies have subsequently obtained patents on hybrids. This is considered
unjust by some Third World countries and NGOs because the generations of
traditional farmers who had contributed to their identification, selection, and
cultivation get neither financial benefit nor recognition. The same is true of
pharmaceutical compounds; and, it is feared, may become true of human genetic
material.
The Mataatua Declaration on Cultural and Intellectual Property Rights of
Indigenous Peoples of June 1993 includes several recommendations to member
states of the United Nations. Recommendation 2.7 states that
"Commercialisation of any traditional plants and medicines of Indigenous
Peoples, must be managed by the indigenous peoples who have inherited such knowledge,"
while recommendation 2.8 demands that "A moratorium on any further
commercialisation of indigenous medicinal plants and human genetic materials
must be declared until indigenous communities have developed appropriate
protection mechanisms". The Declaration also would like the promotion of a
"co-operative rather than competitive framework", and an
"increase in the involvement of indigenous communities" in
"research and training as well as education", that would make them participants
in the process of development of industrial goods from human genome research,
and beneficiaries of possible commercial profits, rather than being simply
suppliers of samples that may eventually lead to significant therapeutic
discoveries. The same concerns have also been expressed in the Asian Regional
Consultation Workshop on the Protection and Conservation of Indigenous
Knowledge meetings in 1995 (ARCW, 1995).
Besides these two levels of opposition, there is also debate about what
exactly may and may not be patented under patent laws. One of the first
declarations on gene patenting is the ICSU Statement on Gene Patenting in June
1992, which states, "Information about nucleic acid sequences cannot be
patented per se. Such sequences should be patentable solely within the context
of their demonstrated significance and/or application and not of their
potential products." Furthermore, it was clearly explained that only
inventions, whereby humans construct new elements that can be used, may be
patented. Discoveries of natural laws, mechanisms, or elements are not
patentable because no one has the right to monopolise a discovery.
Identification of the genome, and of the genes of which it is made up and of
the nucleotide sequences which describe the composition of these genes, constitute
a discovery. As such, the human genome cannot be patented per se.
It is also argued that the human body (and its component parts) cannot be
regarded as an asset, it cannot be marketed, and hence cannot be a source of
financial gain (Pompidou, 1994). This is also discussed in the draft European
Convention of Bioethics, article 11, which states, "The human body and its
parts shall not, as such, give rise to financial gain". However, in note
90, it is stated that this does not apply to discarded tissues, such as hair
and nails, "the sale of which is not an affront to human dignity".
This is important to note because DNA can be obtained from discarded tissues.
Nevertheless, we would like to point out that in some cultures, for example
certain North American Indian cultures, this assumption is not true. Hair, even
when cut, for example, has religious importance and is not regarded as
discarded. The assumption that the sale of discarded tissues is not an affront
to human dignity might not be valid for cultures other than those in Western
societies.
Patenting has also been opposed on the grounds that it limits free and open
scientific exchange, as well as access of researchers to genetic materials for
research. Researchers require access to some major cell line collections, and
one of the goals of population genetics research, such as the HGDP, is the
creation of cell lines. Patents have already been granted on immortalised
cell-lines and hybridomas which are useful in research or as monoclonal
antibody sources for research and diagnosis. These cell lines are kept,
reproduced and distributed by commercial companies, mainly the "American
Type Culture Collection" (ATCC) in North America and the "Centre
d'Etude du Polymorphisme Humain" (CEPH) in France, which charge for
requested samples, as these services are expensive and laborious to maintain.
In 1994, there was debate over the commercial access to DNA collected from 800
French families in the CEPH. The issue was divisive, as some funders wanted to
ensure free access, while on the other hand, there were claims that exclusive
commercial access would increase support (e.g. Nature 368 (1994), 175; 368
(1994), 575). Eventually, the pressure led to the claim for exclusive
commercial access being dropped.
Patents on these materials will require the payment of royalties which will
in turn severely limit the access of scientists from poor countries to research
carried out by scientists in the developed countries. This will exacerbate the
gap that currently exists between North and South. The issue of patents is a
primary concern of Third World scientists, who feel that their countries may
end up being suppliers of genetic material for population genetics research,
but they may end up having to pay for the products of these research outcomes.
This will be a barrier to Third World countries developing their own
scientific strategies in the field of diagnosis and therapy based on publicly
available gene sequences. And what if human genome patent claims are
extrapolated to gene sequences of micro-organisms endemic in these countries?
Would they also have to give up royalties for vaccines, designed by scientific
teams from poorer countries against malaria, leishmania, chagas and other
diseases, the microorganism sequences of which are protected by an
industrialised countries patent?
We note that public opinion in many parts of the world is against patenting
of human DNA (Macer, 1994), although we recognise that the issue is complex and
that there needs to be some protection of commercial investment in research.
Most research funding is currently judged as an investment, and the trend is to
become even more commercial. This trend is indeed a worrying one. By
prioritising the objective of financial benefits, scientists are led by the
possibility of commercialising research results rather than what many consider
to be the nobler aim, the discovery of knowledge.
Accordingly, this sub-committee recommends that patenting should be limited
to new applications and processes which may be developed in the course of human
population genetics research, and that conditions should be developed to ensure
free access and use by researchers everywhere. In the event of the possibility
of population genetic research material giving rise to patentable products, the
principles of informed consent should be observed, and a mutually agreed upon
mechanism should be worked out in ensuring that potential financial benefits
flow back to the donors of the original genetic material.
This should not be on the basis of the sale of blood or other bodily tissue
but on the basis of their cooperation in a scientific program which may bring
large financial rewards to the companies involved, or those secondary companies
which utilise the results. Care should be taken to ensure who is the legitimate
beneficiary of commercial benefits; that is, whether it should be the national
government or some sort of trust fund for the population group. Benefits
returning to Third World countries for example, may not necessarily benefit the
indigenous populations from whom the samples were taken. We also note that no
undue compensation should be offered to ensure participation in sampling
(Knoppers et al. 1995), which may be extremely difficult to control given the
one-sided power relationship in the poorer areas of the world. We see the
return of financial benefits in terms of communities not individuals.
2.3.3. Return of research results to subjects of research
It should be remembered that financial returns are not the only form of benefits
of research results which could be returned to subjects of research. Perhaps a
more important aspect is the return of information and research results to the
communities from which data was collected. There are research projects, for
example, which plan to write their research analyses and conclusions in popular
form which are accessible to the communities so that they could be helpful to
them in promoting concrete responses to particular problems.
The feedback of results to the communities concerned should also help to
foster a greater sense of community identity in the face of aggressive cultural
imperialism by industrial superpowers. But perhaps the most poignant problems
of many populations involved in population genetics research is in the realm of
public health. This, however, cannot be understood just as a diagnosis of
symptoms and consequent medical treatment. In indigenous communities these
problems are usually an intricate result of the breakdown of a traditional
well-adapted cultural as well as biological relationship to the environment,
due to economic and political pressures from the dominant society. At the
individual level, the results of physical examinations and clinical diagnosis
and options for treatment are sometimes communicated to each participant in the
local languages through local health authorities and doctors as soon as
possible. This is so as to utilise the health data collected for the
improvement of community health, especially in the remote areas or areas with
poor health services. The provision of health and medical care, however, should
be appropriate to the cultural and social context of the community and should
be sustained. In this, the principles of primary health care as contained in
the Alma-Ata Declaration (WHO/UNICEF) of 1978 should serve as a good set of
guidelines to follow.
At the community level, the health data could be utilised for the
improvement of local community health. Thus, benefits should also flow back to
the groups and communities in the form of contributing to the formulation and
implementation of local and national health care policies that would enable
communities to better their positions. These policies, as well as the health
care services which are offered, should of course be decided upon by the
communities.
Commercial benefits discussed in Section 2.3.2. could be expressed in other
ways. While there could also be provision for a one-time gift of cells or blood
with no conditions, as is found in some tissue donation forms for blood and
body tissues, can one individual sign away commercial rewards to future
research knowledge for the population to which they belong? It may be
technically possible to conduct population genetics research among students of
an international university, with them giving their cells to science. It is a
difficult ethical issue which we have not resolved, which while it has until
now been ignored, we consider to be important.
2.3.4. Implications of knowledge from population genetics research
Some challenging implications may arise from the better understanding of
human history that population genetics research could provide. The new
knowledge from such research could be used to educate people of indigenous
groups that would help protect their interests. On the other hand, new
knowledge of human group evolution and the relationships of particular groups
to others, may challenge existing world-views. Some population groups have
strong beliefs in mythologies or cosmogonies which explain group origins and
identity, and the return of data that challenges the accepted beliefs could be
a delicate issue.
Population genetics research may also throw new light on the questions of
who were the first inhabitants of regional areas, the historical relationships
of populations to current national boundaries, and who has the right of
government. Governments may fear that indigenous peoples will be able to use
the claims of prior settlement to push land claims. Which inhabitants of which
time period would we consider to be the legally entitled owners of land that
had been successively colonised? Population genetics data may confirm or reject
the information obtained from archaeology or history. In the West Pacific for
example, recent population genetic studies show that settlement was from the
West not from the Americas (Clegg, 1994).
Some would say that population genetics will not tell us anything within a
time frame that could make valid legal claims under a common or civil law
approach (Greely, 1995). We could also say that we already know much of human
history, and indigenous peoples' claims to prior settlement may be ignored
despite the clear knowledge that they were there. If ancient DNA samples are
collected and markers used to trace the contemporary descendants, for example,
this could be used to find the genetic descendants, but these may not be
considered to be "legal heirs" to the land under most legal
traditions. It is beyond the scope of the UNESCO International Bioethics
Committee to consider changing the legal system of ownership that tends to
overlook European colonisation of the past few centuries, but we should note
that there are recent legal rulings which support indigenous peoples' original
titles to government lands in Australia and New Zealand.
2.3.5. Other issues arising from the use of research results
One fear that has been expressed about population genetics research is that
access to and knowledge of a community's complete genetic make-up makes it
theoretically possible to devise cheap and targeted biological weapons trained
solely on that community (RAFI Communique, 1993b). Given that greater genetic
diversity exists within any particular population group than among population
groups, it is highly unlikely that specific genetically-based genocidal weapons
could be developed for specific population groups. Unfortunately, other methods
of so-called "racial cleansing" are available. In this respect,
restrictions on biological warfare which already exist in international law
should be further strengthened.
The issues of discrimination, eugenics, stigmatisation and other ideological
uses and abuses of genetic research on populations are discussed in the
following section. Eventually the genetic data could be used for genetic
therapy and intervention. Many of the ethical issues are summarised in the
UNESCO IBC report on gene therapy of 1994. Although it appears unlikely, it is
possible that in the future a population or society could agree to the general
use of a genetic vector to provide a medical benefit, such as immunity to an
infectious disease, or compensation for a common genetic disease among a
particular genetic population. Such an issue is related to the extent that
traditional vaccination programs are compulsory or voluntary, and we note that
such programs are, and should be, generally voluntary although public
information campaigns may encourage participation.
3. Public understanding
3.1. Ideologies
Public attitudes towards population genetics are often based on social
ideologies, racism, and eugenics and can well lead to stigmatisation and
genetic reductionism. The ideologies of racism and eugenics are human
artefacts, socially and politically constructed, and may well prove impervious
to scientific proofs. Indeed, such ideologies may improperly appropriate
scientific findings to further advance and legitimise social and political
programs. Research scientists need to be aware of their own assumptions and
philosophical presuppositions as well as the assumptions and philosophical presuppositions
of others, and to be prepared to work within a general framework of respect for
human rights as expressed in international law. The pursuit of scientific
enquiry as a means to legitimate ideologies is a temptation that should be
resisted. Without paying attention to these issues, scientists themselves may
sometimes find themselves unwittingly involved in unfair manipulations of their
intentions or results, in the name of diverse ideologies.
Scientists themselves are not immune from the usual array of assumptions,
dislikes, biases and prejudices that beset the wider community. Unfortunately
scientists have at various times in history believed themselves to be working
in a value free domain, gathering the pure crystals of data and indeed trumping
other human values and concerns in their pursuit of ever higher degrees of
scientific knowledge. As Alasdair MacIntyre (1982) has observed, it is a
mistake, albeit "a pertinacious and long-lived one", to imagine that
an "observer can confront a fact face-to-face without any theoretical
interpretation interposing itself". But while philosophers of science may
now be largely agreed that "this was an error", it is still a
temptation for scientists to imagine that you can stare a fact in the face and
view it just as a fact.
This is not to assert that there are no such things as facts but only
interpretations. It is, however, a recognition that facts are observed by
persons and that the reporting of facts may be distorted because they are
interpreted by a particular individual with a particular mind-set, because of
the frailties and limitations of the observer, and because the observer fails
to see the fact in its overall context. It is in the recognition of this
problem that scientists themselves may become better at and more cautious in
interpreting the data before them, and more able to appreciate different
interpretations of the same scientific data.
To standardise the way in which the scientific enterprise is best put in
service of humankind, it is necessary for scientists to have regard to those
human values upon which human beings are agreed, and which human beings agree
need to be defended for the full flourishing of the human community. These
agreed values may be found in the human rights documents of the United Nations,
values which are in harmony with the world's deepest aspirations as to what it
means to be human and living in solidarity with other human beings, and in
harmony also with the moral insights of the religions and philosophies which
have helped shaped the various human cultures. Since science itself has emerged
from the traditions which favour the search for truth, for explanation of the
natural world, then the scientific enterprise is at its best when it is pursued
in harmony with the other values which also contribute to human flourishing.
3.1.1. Racism
Population studies in the past have shown that most of the genetic diversity
is to be found within every race or population, and if this is further
confirmed to be true the typological classification of humans into different
"races" is scientifically invalid. Nevertheless "racism" as
an ideology and as an attitude is a human reality. Population geneticists point
out that population genetics offers no scientific basis for the belief that
certain races (however defined) are superior to other races. Indeed there is a
greater diversity within populations than between populations. However, care
needs to be taken in the way such an argument is formulated. Because of the
potential for abuse of population genetics, we consider racism and eugenics as
important issues of population genetics to consider, although some in the
scientific community do not (Editorial, 1995). Variation between individuals or
groups could be (but not necessarily) associated with evaluative notions of
"superiority" or "inferiority", and thus foster racism as
some have suggested genetic counseling does.
Population studies in the past have shown that most of the diversity within
the genes studied is to be found in every race or population, and if this is
true then this information could be used to combat racism. Since current
population studies show that the typological classification of humans into
different 'races' is scientifically invalid, we should avoid the use of the
term "race". Population studies include linguistic and anthropological
studies (Marks, 1995). Some such studies have been misused in the past, and
today, and need to be treated with appropriate expertise and care by the
investigators.
Historically, Third World people in general, indigenous people in
particular, have been the objects of research by scientists from developed
countries. The history of anthropology is based on the study of 'exotic' races,
and anthropologists operated within the prejudices of their age. One example of
this is the craniometry research that was done in the second half of the 19th
century when Western scientists measured craniums and ranked races by their
measurements. By their ranking, the white man is the most superior race, and
the black man, the most inferior, comparable to apes (Gould, 1981). We should
also note that religious discrimination is often linked with ethnic
discrimination.
The World Council of Indigenous Peoples was upset by the discussion that
cells should be gathered from populations at risk of disappearing (Roberts,
1992; Pahr, 1994). At that time they mistakenly thought that the HGDP was aimed
exclusively at sampling from endangered populations, which it should not be
(Majumder, 1995). However, the HGDP does not contribute to the demise of the
population groups it studies.
With the burden of this recent history, it should be no surprise that many
Third World and indigenous people view Western research with suspicion.
Researchers have responded to this by evolving research methods which involve
their subjects in a more participatory fashion, or by developing research
projects which not only aim to study, but also to share research findings, and
whatever benefits which accrue from it, with their subjects.
Indigenous peoples' organisations now question the purpose behind research
that is done on indigenous population groups. In certain parts of the world,
indigenous peoples are facing cultural extinction. Where there is mass logging
of tropical rain forests, for example, indigenous people who live there are
depleted of food and water resources, and driven from their homes. They
eventually join the ranks of waged labourers in logging camps and cash crop
plantations. As their social fabric breaks up, they are in danger of losing
their identity and culture. The struggle to survive as a people is a pressing
concern of many groups. In this context, the call for researchers to collect
genetic materials from indigenous populations before they disappear as
distinctive genetic groups may appear to some as grossly insensitive and
callous. Furthermore, if such research receives funding from governments, the
money and resources could be channelled from other pressing needs.
Populations have mixed in the past and mix more today, and some cultural
anthropologists suggest it is difficult to define linguistic and genetic
populations (Lock, 1994). In attitudes to bioethical questions we also find
broad diversity across many cultures. This is seen in the International
Bioethics Survey performed in 1993 in a variety of countries, where there was a
similar range of diversity of ideas in numerous open response questions on
issues such as images of disease, nature, life and genetic technology in each
country, and the range within each country corresponded to the same range found
between all (Macer, 1994). In this way we could see cultural diversity in a
similar way to genetic diversity, neither supports the notion of race. It could
be said that health discrimination and cultural or religious discrimination
tend to spread and substitute for "race" discrimination, although
they all involve the labelling of groups of persons.
It has been amply demonstrated that, while there is a wide range of
diversity between human individuals, the average differences among human groups
are small. Accordingly, there is no scientific basis for believing that there
are races which are more 'gifted' or 'smarter' or 'better', and thus racism is
not supported by contemporary scientific research. However, this argument needs
to be carefully expressed or it may unwittingly appear to rely on the
assumption that if you could in fact demonstrate that some races were more
'gifted' than others, had 'better' or 'smarter' genes than others then those
races would be superior, and the other races inferior.
All population genetics research should be carried out in a way that is
sensitive to the ethical obligations found in international law. However, we
should also be clear that those who seek to use the findings of population
genetics to support movements and ideas which are hostile to fundamental human
rights will no doubt do so. The correct response to this is not to say that the
findings will prove the opposite, i.e. fight against racism, but to recognise
that what science finds is what science finds, and these findings should be put
in support of fundamental human rights which derive from the universal belief
in the inherent dignity of the human individual. Such values cannot be
"proved" by science, and neither can they be "disproved" by
science. UNESCO should actively encourage greater public acceptance of
variation and vulnerability, and promote the value of human diversity. While
there are fundamental human values which should form the basis of all
bioethical reflection we should nevertheless have regard to those other
cultural values upon which all societies are not necessarily agreed, learning
to respect the different ways different societies do their ethics.
3.1.2. Eugenics
Eugenics, a word coined by Francis Galton in 1883, was defined by him to
refer to the "science" of improving human stock by giving "the
more suitable races or strains of blood a better chance of prevailing speedily
over the less suitable". While Galton associated eugenics with racism, the
new eugenics proposed since the Second World War is not necessarily racist but
refers to the elimination of inherited genetic defects either by genetic
counselling backed up by abortion and even infanticide, or the improvement of
an individual's genetic inheritance (Cf Kevles, pp. 251-268). So eugenics, and
with it notions of "superiority" and "inferiority", does
not have to be applied to race.
Indeed it is a mistake to identify eugenics only with racism. Eugenics stems
from habits of mind, from the desire to protect "my group", and from
a negative attitude to persons with physical or intellectual disabilities.
Contemporary eugenics is generally not so much racist as it is connected with a
desire to limit the number of people whose lives are held to be of such low
quality that such lives, in terms of the burdens that they impose on societies
as well as the affected individuals, are not worth living. It is naive to
imagine that scientists as scientists cannot be racist, eugenicist, or
paternalist.
The danger is that genetic findings may be inflexibly interpreted as the
only story of human, biological, and cultural evolution. In the first decades
of this century, the racial hygiene movement, relying on eugenics based on a
mistaken science, proposed negative attitudes to whole groups of human
individuals. By the middle of this century eugenics had fallen into disrepute.
But today, increasingly more strength is being given to genetic explanations of
human behaviour, as can be seen in the scientific and popular press over the
past decade (Nelkin & Lindee, 1995).
Eugenics can and is practised within a population precisely on the basis of
"genetic reductionism", that there are some lives which, it is
popularly claimed, constitute a burden to the community, to the individual
concerned, to that individual's family, and whose quality of life is so low
that these lives are not worth living. Such eugenics has nothing to do with
race, but is based upon disability.
The problem is that in the way that the argument is often expressed there is
an underlying assumption that genetic differences between individuals
constitute a rational basis for labels of 'superior' and 'inferior'. The point
is that eugenics is built upon an attitude that seeks its justification in
science, just as racism is an attitude that may seek its justification in
science. These are habits of mind and ways of thinking philosophically that are
hostile to the key notion of the inherent dignity of the human individual and the
inviolable and inalienable human rights that arise from the international
consensus about the value of human beings. Human value does not change
according to health, sex, race, theories of personhood, or any other factor.
With both eugenics and racism we are dealing with political and social
constructs and not scientific categories. Eugenics may also be linked to
distaste of persons with disabilities, to Nietzsche's idea of the threat that
the disabled and chronically sick pose to the healthy (Nietzsche, 1910), and to
the economic burden on the community which comes from the provision of
long-term care for the disabled, the elderly, and the chronically sick. It is
very important to realise that scientific information, in and of itself, is
never likely to significantly undermine race as a political category or
eugenics as a political and social movement.
We should not have the misconception that eugenics is a thing of the past,
although, in present times, eugenics may express itself in not so obvious ways.
For example, there are cases where insurance companies have cancelled policies
of families who include a member found to have a genetic risk factor for a
disease. This has been called genetic discrimination (Billings, 1992).
It should also be noted that present day eugenics has been expressed at the
level of national government policies. For example, the population policies of
the Singapore government is guided by eugenics - women who graduate from
universities are encouraged to bear more children in the belief that their
children have higher "intelligence", while less-educated women are
offered disincentives to have more than two children (Chee & Chan, 1984).
It may be pointed out that the inclusion of a many groups of people as
possible, including groups of persons at risk of eugenic discrimination or at
risk of racism, could work against racism as the total human race will able
represented in genetic maps and libraries, if we compare it to the situation
where the human genetic map was only derived from one population. The concerns
that persons who suffer from particular diseases have of discrimination
increasingly voiced in relation to contemporary developments in genetics
research. The UNESCO International Bioethics Committee report on genetic
screening discusses some of these issues.
3.1.3. Stigmatisation
Stigmatisation may occur when population groups in which there is a high
incidence of genetic disease are selected for scientific investigation thereby
drawing attention to their genetic differences. Care needs to be taken that
targeted groups do not become stigmatised in some way simply because they are
of scientific curiosity, or because they are more frequently studied and more
is known about them they seem to have a greater predisposition to disease. Such
stigmatisation can lead to unjust discrimination.
It is not surprising that some people are suspicious of genetic research
which appears to have selected them for scientific investigation.
Understandably they can see a danger that researchers in these projects will
target the most "interesting specimens" because they are a fading
population group. Nevertheless, the scientifically and ethically legitimate
aspirations of population geneticists ought to be encouraged even where they
are misunderstood. Where misunderstandings do occur, and they can occur on both
sides, participating scientists, potential research subjects, and pressure
groups need to be sufficiently open to each other to allow opportunity for
those misunderstandings to be discussed and resolved.
3.1.4. Genetic reductionism and Holistic World Views
"Genetic reductionism" is used to refer to the evaluation of
individuals with reference only to their genetic inheritance. Western science
has frequently sought to explain the whole by a greater knowledge, by a part
that is deemed to be most fundamental. Some researchers, pursing Darwinian
theory, propose an explanation of human beings in their origins as well as
their evolution by reference only to DNA. Individuals have been categorised according
to specific markers of inherited susceptibilities. Whatever the theoretical and
scientific benefits of such categorisations, research scientists must always
have regard to a more holistic appreciation of human beings, considered both as
individuals with an inherent dignity, and as communities living in a given
environment and culture.
It is precisely at this point that the objections of some population groups
to population genetics have been most forcefully articulated. It is a mistake
to imagine, for example, that opposition to certain research projects is based
upon misunderstandings and confusions about scientific aspirations, and how the
scientific information will be used. It is much more fundamental than that. It
is a clash of philosophy and cultural insight concerning our understanding of
the origins of humanity, the responsibility of individuals and the safety of
the community in terms of past, present, and future generations. For many
indigenous peoples, the dignity of their ancestors are "in our blood, our
hair, our mucus, our genes", accordingly some research projects are seen
as an unwelcome interference "in a highly sacred domain of indigenous
history, survival and commitment to future generations".
The categories of populations that are chosen include those that can answer
specific questions related to contemporary 'ethnic groups', language groups and
cultures. Populations that are anthropologically distinct, that are linguistic
isolates, and those in danger of losing their genetic identity will be chosen,
as well as populations that are dominant in particular regions. The dominant
population groups have nothing to fear, however some members of minority groups
are already at risk of ethnic attacks and are therefore sensitive to any information
that could be misused against them. For example, if the genetic knowledge can
be used to classify them as distinct, e.g. French have a gene to make them good
wine-makers and drinkers, it could become a point by which they are ostracised
- though, the information could also be used for admiration. The usual cause
for loss of genetic identity is not racial cleansing but the genetic admixture
caused by intermarriage between different population groups. We could also
expect concern from those groups who are also physically threatened by attempts
to eradicate them, such as Kurds in Iraq, Tutsi in Rwanda.
If genetic reductionism derives from a misunderstanding of science and is
suggestive of discrimination against a "genetic underclass", it also
represents a threat to those mythologies or cosmogenies which are different
from the dominant world cultures. The sensitivities and legitimate cultural and
social norms of particular population groups have to be respected and honoured
in any population genetics research. One of the ways to address the concerns of
groups of persons at risk of eugenic discrimination, or at risk of racism, is
to have good communication with disability support groups and ethnic
communities. For example, Australian aborigines have suffered racism since
European colonisation of Australia, and they have expressed concern that
decisions about the research were made independently of them - largely in the
United States or Europe. The planners of population studies in general could
counter these concerns and the risk of actual abuse, by including the
indigenous peoples in the planning stages as well as in the ethical discussions
of these studies. "The human rights of people in populations should be
respected", and these people should be seen as "partners in the work
rather than merely subjects of it." (Cavalli-Sforza, 1994).
One of the fundamental points of opposition of indigenous groups towards
genetic studies of human history is that the results may contradict indigenous
people's views of oral and traditional history, and the meaning of genes and
genealogy. For example, Maori people have two words to describe the human gene,
one meaning "life spirit of mortals (Iratangata)and the other genealogy
(Whakapapa), which connects Maori with themselves and others (Mead, 1995). The
gene and genome are not the property of individuals but rather are part of the
heritage of families, communities, tribes and entire indigenous nations. In
this regard the UNESCO position on the human genome being part of the common
human heritage is more compatible with the views of indigenous persons, than
the view discussed in the patent section of those seeking patents on genes.
One response to the opposition has been to place some distance between
population genetics research and patents by asserting that patenting is not the
primary purpose of such research, and that in the event that genetic products
of the research are commercialised, financial benefits would be shared with the
people from whom the genetic material originated. Although some have found this
acceptable, others have pointed out that this only serves to incorporate
indigenous peoples into a system that views living organisms and community
knowledge as commodities which can be patented, 'owned', and traded.
The discussion on the ethical, legal, and social issues arising from human
genome research reflects a particular world-view, which has arisen in the
context of a world economy that is dominated by the multi-national
corporation's drive for profits. The wrangle over patents, for example,
reflects this world view. Yet, an alternative world view is evident when
researchers gather germ material from peasant farms and tropical rain forests,
and acquire knowledge and expertise from indigenous peoples and peasants, without
being asked a single cent in remuneration.
Indigenous peoples' organisations have begun expressing their own value
systems and discussing ways of conserving and protecting indigenous knowledge
and culture. In the process, they have opposed the patent system as being
fundamentally in conflict with their own value system. One analysis refers to
the indigenous value system as the 'cooperative innovation system', and that of
modern science as the 'institutional innovation system', and calls for the recognition
of the contribution and value of the former toward the world's food supplies,
farming systems, and medicinal needs (RAFI/UNDP).
3.2. Bioethics and Genetics Education
Public understanding of population genetics requires bioethics and genetics
education. Such education has universal support. The questions are: what?, by
whom?, to whom?, and who pays? Bioethics and genetic education has been called
for also in the genetic screening report of the UNESCO IBC, and is consistent
with the founding goals of UNESCO. Population genetics research involves
contact with and sampling of different populations. This presents opportunities
to involve researchers and participants in a two way process of education.
As discussed above, the researchers should involve local participants in the
research. This presents a chance for advanced genetics training, and training
in taking consent and consultation from participating groups of people, not a
concept currently found in the local scientific or legal environment! Researchers
should also develop collaboration in the international context. Indeed, the
process of anthropological research actually involves education of the
researchers in the local customs and beliefs, which can then be shared with the
rest of the world in efforts to help understanding among peoples. In this way
all can learn through research.
The people participating in the research will be able to learn of the
reasons why the sampling is sought and of the research goals. They may be
interested to meet people from out of their community, though the contact
should not create expectations which cannot be fulfilled. There is the need to
share results. Some representatives of indigenous populations, however, have
expressed concern that they do not want to know the results of scientific
studies that challenge their local understanding of history. There is also the
education of researchers during the process of their search negotiations and of
the results of any investigations, of the attitudes of local groups and
populations. The process of anthropological research actually involves
education of the researchers of the local customs and beliefs, which can then
be shared with the rest of the world in efforts to help understanding among
peoples.
In this way all can learn through research that is entered into with a
willing spirit to learn. There are further issues that need special attention
for population genetics, especially those discussed in the ideology section
above. Racism and eugenics are deep-seated attitudes, often related to a desire
to protect the power of "my group", rather than rationally arrived at
positions. It is generally believed that the misuse of genetics also depends to
some extent on the level of education of genetics that people have. If
education of genetics, as well as the bioethical issues it raises, is
increased, many hope this would reduce the tendency for racism. Contrary to
this, however, in the first part of this century most educated biologists
supported eugenic thinking (Paul, & Spencer, 1995). Some would maintain
that social eugenic programs of that time were based on false genetic
knowledge, however, either interpretation of history illustrates the power of
education.
There is a need for public and student education. Advances in biology and
medicine have generally led to pressure upon educators of how students can be
prepared to face the ethical dilemmas that the technology often raises. In
school and university education during the 1960s to 1990s in many countries
science has been taught independent of social or ethical values. However,
science educators have discovered during the last two decades that the most
efficient way to educate science is to discuss the science together with
examples of technology and put the facts into the social context. This method
of teaching is generally called the Science, Technology, and Society (STS)
approach (Ramsey, 1993). Bioethics is one part of the approach of STS. There
are a diversity of views on how to effect efficient education of social issues
and even the science itself (Waks & Barchi, 1992), however, the point is
that students learn more science when it is combined with practical
applications. The problem is that value education has also been abused in the
past to promote discrimination, and the weight of the word
"scientific" can make people believe that such a value is also
scientific. There is a need to work on what can be taught, and to promote
decision-making, and recognition of human diversity.
The funding of educational efforts obviously cannot be absorbed totally in
the budgets of the population genetics research. Therefore, there should be
some commitment of the funds to education found in the Human Genome Project
research programs for ethical, legal, social impact and educational issues.
4. Conclusions
4.1. Summary
Recently research involving human subjects has become more regulated. In
addition to international bodies such as UNESCO, or HUGO, and national funding
agencies, there are already national laws in many countries to involve local
research ethics committees, such as Institutional Review Boards (MacKay, 1993).
Current population genetics research is under the oversight of different layers
of control which vary widely around the world. Some research is only under the
discretion of individual researchers, most seek consent from the persons who
provide the tissue samples, and the international regulations on research
involving human subjects are clear that informed consent is needed. Some funding
agencies demand ethical review, such as NIH-funded research in the USA. Some
universities in the world also demand ethical review, and the trend is to have
more review. The HGDP being an international project will demand international
standards of consent and confidentiality, which when appropriately implemented
in the local situation will be at least as good as ethical guidelines for
existing research.
In addressing the ethical, legal and social issues of human population
genetics research, several points of principles need to be considered. The body
entrusted with the responsibility of overseeing such research should include
substantial and legitimate representation of the target populations. Indeed, a
wide representation of people's groups should be included in all stages of
population genetics research projects. Considering that the protection of the
intellectual and cultural property rights of the sampled populations is a
legitimate concern, specific mechanisms on how to protect these rights ought to
be formulated. Furthermore general statements of possible benefits flowing from
research projects to local populations, such as the HGDP's claims that it will
lead to the development of scientific laboratories in local areas, should be
formulated concretely and specifically so that it becomes obvious how this will
happen.
UNESCO International Bioethics Committee needs to consider whether they
should outline some principles of ethical guidance, and give further
explanation of practical measures and procedures. As has been pointed out by
Majumder (1995), member of HGDP Executive Committee from India, in some
countries the positive image of a UN body such as UNESCO would ease the
concerns of local politicians and groups if they were to take a direct interest
in the oversight of the HGDP. In fact as we observed during the consultation
process during the drafting of this report, some researchers and some
population groups have asked UNESCO to review the ethical issues, and to
establish a committee to continue the ethical review of the research, and
proposals. However, this would require the development of more detailed
guidelines addressing the ethical and commercial issues raised by the HGDP.
Such guidelines would also be useful for general population genetics research.
In any case, detailed guidelines should involve local authorities
(communitarian as well as national) at first, to ensure that communitarian and
national concerns, interests and conditions are fulfilled and respected.
The broad involvement of UNESCO, WHO, CIOMS, HUGO, ICSU, and possibly other
bodies within the regulatory committee is important. There is a need to include
representatives of people's groups in all stages of population genetics
research projects, and in the oversight committee. In North America the HGDP
committee has included two representatives of indigenous peoples groups, and
this should happen in a global sense, though we must ask who are suitable
representatives. The answer to this may depend on the locality and situation,
and should be flexible.
Regarding the HGDP, the scientific goals are generally valid, and the HUGO
HGDP committee has produced a good introductory report on the reasons for the
HGDP (HGDP Summary Document, 1994). The North American HGDP regional ethical
committee has produced detailed guidelines, which has progressed the ethical
review of future population genetics studies conducted within their auspices
(Greely, 1995). The ethical guidelines do take account of the critiques of most
writers, however, we can say that the organisers would have received less
critique if they had more actively involved leaders of indigenous people's
groups in the planning of the project. Indigenous people's organisations have
opposed the HGDP on several bases, a fundamental one being that while many
groups of indigenous peoples face physical and cultural extinction, the project
has not expressed concern about their eventual disappearance, but has instead
expressed urgency in collecting tissues from these groups before they disappear
as separate entities. The ethical oversight committee of the HGDP should
address this issue in concrete ways.
The goal of population genetics to understand human history is controversial
because of feared misuse, but the possible medical goals seem to be universally
accepted except for the fact that the medical techniques may be patented. The
possible patenting of products from the material collected from sampled
populations has given rise to concerns that financial benefits are derived from
them but will not benefit them in anyway. These concerns are based upon their
past experience in having had their plant seeds and their knowledge of medical
plants appropriated by outside parties. Cell lines and DNA collected during
population genetics projects can be a potential target of commercial research,
as shown in several patent cases. Although some researchers, and the HGDP has
committed itself to protecting the intellectual property rights of the sampled
populations, the mechanisms for doing so are not clear and need to be
specified.
The claim that the HGDP will reduce racism is debatable since it will be
impossible to provide any proof that it will or will not happen until after the
event. However, the misappropriation of population genetics to support racism has
always been strenuously resisted by Luigi Luca Cavalli-Sforza one of the
principal architects of the HGDP (e.g. Bodmer & Cavalli-Sforza, 1970).
Nevertheless fears about the possible uses to which information gathered in the
HGDP could be put have been expressed which cannot be ignored. At an early
stage in the project's planning, several groups speaking for indigenous peoples
called for a halt to the Project. However, it would seem to be impossible to
stop the general progress of this project, and it is not within the mandate of
UNESCO to call for a moratorium on such a project or on population genetics
research. The response of UNESCO has been to ask other groups to join in the
regulation of population genetics, and the HGDP. Invitations to join the ethical
oversight committee of the HGDP should be formally extended to indigenous
communities who could select their own representatives. These principles apply
to population genetics in general.
The use of research results should in no way harm persons and not result in
possible discrimination of the individual and population concerned. Future
increased ability to identify people genetically at risk for genetic and common
diseases, needs to be accompanied with the measures to protect the individual
from stigmatisation and misuse of information by a third party. (Note: we rely
on the 1994 UNESCO IBC report on genetic screening, and the 1995 UNESCO IBC
report on genetic counselling).
4.2. Sanctions
While as described earlier, regulatory oversight usually foresees a certain
degree of scientific and ethical review prior to acceptance of a research
protocol, once accepted, ongoing monitoring and surveillance usually are not
assured. Even less certain is the possibility of sanctions in whatever form.
Disciplinary measures including for example, suspension, withdrawal of
privilege and fines, constitute the usual avenue of professional measures. In
addition, where research subjects have been harmed, civil and criminal
sanctions are also possible. Funding bodies may withdraw funds and sometimes
even retroactively. The latter is rare however. In any event, unless involving
great numbers as in the HIV blood testing scandals and the recent breast cancer
trials, cases of research fraud or of failure to respect basic ethical norms
are usually not brought to public attention.
If researchers are to become more accountable and actual practices more
transparent, other forms of sanctions or at least of publicity, should be
envisaged. Stricter, standardised reporting requirements, on a regular basis
and publication of such reports are one such avenue. We consider the latter to
be a basic ethical obligation that should be universally applied.
If researchers are to be subject to greater scrutiny, the same holds true
for the media whose duty of honest, scientific reporting and preservation of
privacy needs to be underscored. Whole populations, communities and the
researchers themselves have often been wrongly depicted and wrongly represented
with the resulting unjust labelling and discrimination. Such practices only
serve to undermine public confidence and participation in research.
4.3. Conclusions
The scientific and philosophical traditions that have long permeated
research are also present in population genetics. The prevailing attitude in
science is that research is in and of itself a good. Therefore, if properly
explained and understood, participation should be forthcoming. Communities and
populations however, have their own cultural traditions and histories that need
to be understood and respected. Moreover, population genetics is not simply a
multiplication of the individual ethical and legal issues already raised by
genetic research. There are different concerns and traditions in each group
under study, and even among individuals within any group. The degree of
information, consultation and cooperation must reflect such differences in
participants. Likewise, the role and responsibilities of the researchers and of
the local and national authorities, as well as the societal implications, will
differ.
Having examined then, the ethical issues particular to population genetics,
their philosophical basis, their research methodologies and possible
utilisation of research results and most importantly, the need for education
because of fears of identification and stigmatisation through selection, of
discrimination through participation, and, of possible eugenics through
interpretation, we have recommended in this report the following issues as
crucial to ethical review of population genetics research at institutional, and
regional or global levels:
1) accessibility to populations;
2) consultation with populations;
3) individual and group consent mechanisms;
4) ongoing ethical review;
5) inclusion of representatives of populations in decision-making;
6) communication, education, benefits, and feedback strategies at the
population level;
7) confidential data and sample banking;
8) continual scientific review and monitoring and finally;
9) appropriate sanctions.
At its Second Session, the IBC was requested to consider establishing a
committee on the ethical questions that might arise in the HGDP. This proposal
has been supported by WHO, CIOMS, ICSU, and HUGO. We recommend that such a
committee should be more broadly conceived so as to be available for ethical
consultation for all human population genetic research projects, and not only
the HGDP. Given the concern shown about population genetics and in particular
for the HGDP by indigenous peoples' organisations, we strongly recommend their
inclusion in such a committee. While there is a negative side to a centralised
population genetics project, there is some merit to the idea that coordination
and review may help ensure ethical practice of individual researchers.
We suggest that a paragraph could be added to the preamble of the UNESCO
Declaration on the Human Genome and its Protection in Relation to Human Dignity
and Human Rights, for example: "Bearing in mind that human cultural and
genetic diversity is an intrinsic value of the human species, which should be
recognised in all communities."
5. References
Annas, G.J. (1993), "Privacy rules for DNA databanks. Protecting coded
'future diaries'", JAMA 270: 2346-50; see also JAMA 267 (1992), 2158.
ARCW - Asian Regional Consultation Workshop on the Protection and Conservation
of Indigenous Knowledge, Statement for the European Parliament on the Patenting
of Life Forms and Processes, 27 February, 1995, Sabah, East Malaysia.
Baird, P.A. (1995) "Identifying people's genes: Ethical aspects of DNA
sampling in populations", Perspectives in Biology and Medicine 38: 159-66.
Bahn, P.G. & Everett, (1993) "Iceman in the cold light of day",
Nature 362: 11-2.
Beijing Declaration of Indigenous Women, NGO Forum, United Nations Fourth World
Conference on Women, 30 August - 8 September 1995, Huairou, Beijing, Peoples
Republic of China.
Billings, P. (1992) "International aspects of genetic
discrimination", pp. 114-117 in Fujiki, N. & Macer, D.R.J., eds.,
Human Genome Research and Society (Eubios Ethics Institute, 1992).
Bittles, A.H. & Neel, J.V. (1994) "The costs of human inbreeding and
their implications for variations at the DNA level", Nature Genetics 8:
117-122.
Bodmer W.F. & Cavalli-Sforza, L.L. (1970) "Intelligence and
Race", Scientific American 223 (October 1970), 28-29.
Busch, L. (1995) "Eight reasons why patents should not be extended to
plants and animals", Biotechnology and Development Monitor 24: 24.
Butler, D. (1995) "Genetic diversity proposal fails to impress
international ethics panel", Nature 377: 373.
Cavalli-Sforza, L.L. et al. (1988) "Reconstruction of human evolution.
Bringing together genetic, archaeological, and linguistic data", PNAS 85:
6002-6.
Cavalli-Sforza, L.L. et al. (1992) "Coevolution of genes and languages
revisited", PNAS 89: 5620-4.
L. Cavalli-Sforza, P. Menozzi & A. Piazza, The History and Geography of
Human Genes (Princeton University Press, 1994; see book reviews in Nature 371
(1994), 211-2; NEJM 332: 349-50; SA (Jan), 102-3.
Cavalli-Sforza, L. "The Human Genome Diversity Project", paper
presented to UNESCO, 21 September, 1994.
Cavalli-Sforza, L. "The Human Genome Diversity Project", an update
presented to UNESCO, April, 1995.
Cavalli-Sforza, L. & Cavalli-Sforza, F. The Great Human Diasporas: The
History of Diversity and Evolution (Addison-Wesley, 1995).
Chadwick, R. et al., Ethical implications of human genome analysis for clinical
practice in medical genetics with special reference to genetic counseling
(Cardiff: Centre for Applied Ethics 1993).
Chee, H.L. & Chan. C.K., eds., Designer Genes: I.Q., Ideology, and Biology
(Kuala Lumpur: INSAN, 1984).
Clegg, J.B. (1994) "Travels with DNA in the Pacific", Lancet 344:
1070-2.
Editorial (1995), "Genome diversity alarms", Nature 377: 372.
Estling, R. "Whatever made them do it?", New Scientist, 21 January
1995, 48-49.
Feldman, M.W. & Zhivotovsky, L.A.(1992) "Gene-culture coevolution;
Toward a general theory of vertical transmission", PNAS 89 : 11935-8. Also
on human population genetics and history: Science 267 (1995) 35-6; Nature 373
(1995) 472-3; PNAS 91 (1994), 12288-92.
Fujiki, N. "The legacy of the IBP: Presidential address", pp. 1-16 in
Isolation, Migration and Health, N. Fujiki, K. Torizuka, D.F. Roberts, eds.,
(Cambridge University Press, 1991).
Gould, S.J., 1981, The Mismeasure of Man, Harmondsworth: Penguin Books.
Greely, H.T. (1995), personal communication, comments of 24 February on 10
February, 1995 draft report of D. Macer.
Grunkemeyer, J.A. & Cosgrove, D.E. (1993) "Patent activity table:
Transgenic animals", Curr. Opin. Ther. Patents; Cosgrove, D.E. et al.
(1994) "Transgenic animal models and gene therapy" Exp. Opin. Ther.
Patents .
Gupta, A.K. (1995) "Ethical dilemmas in conservation of biodiversiity:
Toward developing globally acceptable ethical guidelines", EJAIB 5: 40-46.
HGD Committee of HUGO, The Human Genome Diversity (HGD) Project. Summary
Document, 1994.
Kahn, P. (1994) "Genetic diversity project tries again", Science 266:
720-2.
Kevles, D. J. In the Name of Eugenics (New York: Knopf 1985).
Knoppers, B.M., Hirtle, M. & Lormeau, S. (1995) "Ethical issues in
international collaborative reserach on the human genome: The HGP and the
HGDP", draft version prepared for HUGO Ethics Committee.
Lock, M. (1994) "Interrogating the human diversity genome project",
Social Science & Medicine 39: 603-6.
Lucotte, G. & Hazout, S. (1995) "Y-chromosome DNA haplotypes in
basques", a report on population genetics sent to UNESCO .
McCarrick, P.M. "Genetic testing and genetic screening", Kennedy
Institute of Ethics Journal 3 (1993), 333-54.Macer, D.R.J., Shaping Genes:
Ethics, Law and Science of Using Genetic Technology in Medicine and Agriculture
(Eubios Ethics Institute, 1990).
Macer, D. (1991) "Whose Genome Project?", Bioethics 5: 183-211.
Macer, D.R.J. Bioethics for the People by the People (Eubios Ethics Institute,
1994).
MacKay, C.R. (1993) "Discussion points to consider in research related to
the human genome", Human Gene Therapy 4: 477-95.
Majumder, P. (1995) personal communication, comments on 10 February, 1995 draft
report of D. Macer.
Marks, J. Human Biodiversity: Genes, Race and History (Aldine de Gruyter,
1995); "Anthropology and race", Nature 377 (1995), 570.
Mataatua Declaration on Cultural and Intellectual Property Rights of Indigenous
Peoples of June 1993 [From the First International Conference on the Cultural
and Intellectual Property Rights of Indigenous Peoples, 12-18 June, 1993,
Whakatane, Aotearoa (New Zealand).
Mead, A. (1995) Comments received on July 1995 draft of this subcommittee
report. Also, Mead, A. (1995) "The integrity of the human gene: Genes and
Whakapapa", a paper presented to the NZHRC Workshop "Whose genes are
they anyway: The use and misuse of human genetic information", 24-27 July,
1995, Wellington, New Zealand. Declarations against the HGDP include: Karioca
Declaration (June, 1992, Brazil); Mataatua Declaration (June, 1983, Aotearoa
New Zealand); UN-Working Group on Indigenous Populations, 10th Session (July,
1993, Geneva); Maori Congress (1993, Aotearoa New Zealand); National Congress
of American Indians (3 December, 1993, Resolution NV-93-118); Maori Congress
Indigenous Peoples Roundtable (June 1994); Guaymi General Congress (1994,
Panama); Geneva IPR Workshop (August, 1994); Latin & South American
Consultation on Indigenous Peoples Knowledge, Santa Cruz de la Sierra, Bolivia
(September, 1994); Asian Consultation on the Protection and Conservation of
Indigenous Peoples Knowledge, Sabbah, malaysia (February 1995), Pan American
Health Organisation Resolution (15 April, 1995); Pacific Consultation on the
Protection and Conservation of Indigenous Peoples Knowledge, Suva Statement
(May, 1995).
Morell, V. (1995) "Who owns the past?", Science 268: 1424-6.
Murray, T.H. "Genetics and Just Health Care: A Genome Task Force Report",
Kennedy Institute of Ethics Journal 3 (1993), 327-31.
Nelkin, D. & Lindee, M.S.,The DNA Mystique: The Gene as Cultural Icon (New
York: W. H. Freeman and Company, 1995).
Nielson, L. & Nespor, S. Genetic Tests, Screening and Use of Genetic Data
by Public Authorities in Criminal Justice, Social Security and Alein and
Foreigners Acts, (The Danish Center for Human Rights, 1994).
Nuffield Council on Bioethics (1993) Genetic Screening: Ethical Issues.
Nuffield Council on Bioethics (April 1995) Human Tissue: Ethical and Legal
Issues, pp 139-140.
Paul, D.B. & Spencer, H.G. (1995) "The hidden science of
eugenics", Nature 374: 302-4.
Pompidou, A. "La propriŽtŽ intellectuelle dans le domaine du vivant.
GŽnome humain, brevets et Žthique", January 1994.
Pompidou, A."Research on the human genome and patentability. The ethical
consequences", Paris, 19 Dec. 1994
RAFI CommuniquŽ: "Patents, indigenous peoples and human genetic
diversity", 1993a
RAFI CommuniquŽ: "Immortalizing the (good?) Samaritan. Patents, indigenous
peoples and human genetic diversity", 1993b.
RAFI/UNDP Conserving Indigenous Knowledge: Integrating Two Systems of
Innovation, an independent study by the RAFI commissioned by the UNDP.
Ramsey, J. (1993) "The science education reform movement: Implications for
social responsibility", Science Education 77: 235-58.
Roberts, L. (1992) Anthropologists climb (gingerly) on board", Science
258: 1300-1; Pahr, 1994
Sokal, R.R. et al. (1992) "Origins of the Indo-Europeans: Genetic
evidence", PNAS 89: 7669-73.
UK, Science and Technology Committee of the House of Commons (UK) Third Report,
Human Genetics: The Science and its Consequences, (1995), xxix.
Vigilant, L. et al. (1991) "African populations and the evolution of human
mitochondrial DNA", Science 253: 1503-7.
Acknowledgments
This report was prepared for the UNESCO International Bioethics Committee
Third Session, 1995, from the subcommittee on bioethics and population
genetics. The subcommittee members include: Heng Leng CHEE, Laila EL-HAMAMSI,
John FLEMING, Norio FUJIKI, Genoveva KEYEUX, Bartha KNOPPERS, and Darryl MACER.
An electronic copy of this document can be viewed at
http://eubios.info/PG.html
We also thank the following persons for their comments and responses to
earlier drafts: A. Argumedo, J. Bertraupemt, L. Cavalli-Sforza, S. Colombo,
A.G. Gonzales, P. Goube de LaForest, H. Greely, P. Harricknen, D. Harry, P. P.
Majumber, R. Schweiger, A. Te Pareake Mead, M. Teitel, M.B. Trask, M.S. Yesley.
Further comments are welcome to: Darryl Macer, Ph.D.