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PROCEEDINGS
I
NTERNATIONAL
B
IOETHICS
C
OMMITTEE
OF
UNESCO (IBC)
Eighth Session
Volume I
II
Division of the Ethics of Science
and Technology of UNESCO
III
Table of Contents
Introduction..............................................................................................1
C
HAPTER
1
Report of the Eighth Session of the
International Bioethics Committee of UNESCO (IBC)
(by Mrs Yolande Tano Bouah, Rapporteur of the IBC)...............................3
C
HAPTER
2
Human Genetic Data: Preliminary Study by the IBC
on its Collection, Processing, Storage and Use
(Rapporteurs: Mrs Sylvia Rumball and Mr Alexander McCall Smith).......21
C
HAPTER
3
Report of the IBC on Ethics, Intellectual Property and Genomics
(Rapporteur: Justice Michael Kirby).........................................................51
C
HAPTER
4
Advice of the IBC on the Patentability of the Human Genome
(14 September 2001)...............................................................................65
C
HAPTER
5
Speeches at the Eighth Session of the IBC
I.Mr Koïchiro Matsuura,
Director-General of UNESCO
(opening speech).....................................................................69
II.Mr Ryuichi Ida,
Chairperson of the IBC
(opening speech).....................................................................77
III.Mrs Anne Fagot-Largeault,
Professor at the Collège de France
(opening speech).....................................................................85
IV.Mr Ryuichi Ida,
Chairperson of the IBC
(closing speech)......................................................................91
IV
C
HAPTER
6
Composition of the International Bioethics Committee
of UNESCO (IBC) in 2001.......................................................................95
C
HAPTER
7
List of Participants...............................................................................101
I
NTRODUCTION
The Eighth Session of the International Bioethics Committee (IBC)
was held at UNESCO Headquarters in Paris, from 12 to 14 September
2001. The Director-General of UNESCO, Mr Koïchiro Matsuura,
honoured with his presence the opening ceremony in which Professor
Anne Fagot-Largeault, Chair of Philosophy of Biological and Medical
Sciences at the Collège de France also took part. Around 350
participants from more than 70 countries throughout the world were
present.
In accordance with the Agenda of this session, the IBC examined
two draft reports drawn up by its working groups: the first on ethics,
intellectual property and genomics and the second on the collection,
treatment, storage and use of genetic data. These reports have since
been finalized on the basis of comments and suggestions made by
members of the IBC and other participants at the eighth session.
A Round Table on ‘Education in Bioethics and Youth’ brought
together several representatives of young people. The topics chosen by
the participants in the Round Table and the diversity of their approaches
illustrated the differences of experiences and projects in progress in the
field of education in bioethics in different countries.
During this session, and directly in line with the initiative taken by the
Director-General of UNESCO to propose for the 2002-2003 biennium the
elaboration of an international instrument on genetic data, the IBC
proceeded with a hearing of three personal data protection
commissioners. Furthermore, a state of the art on the ethical aspects of
proteomics illustrated the place occupied by this new branch of research
in the post-genomic era and the ethical issues that it can raise.
2
Volume I of these Proceedings includes the report of the session, the
speeches delivered and the list of participants. It also includes the
Composition of the IBC, the IBC Report on ethics, intellectual property and
genomics and the preliminary study of the IBC on the collection,
processing, storage and use of human genetic data.
Volume II includes the presentations of participants in the Round
Table and the hearing of Commissioners for the protection of personal data,
together with the presentation on proteomics.
UNESCO
August 2002
3
Chapter 1
R
EPORT OF THE
E
IGHTH
S
ESSION OF THE
I
NTERNATIONAL
B
IOETHICS
C
OMMITTEE OF
UNESCO
(IBC)
by Yolande Tano Bouah,
Rapporteur of the IBC
I. Introduction
1. The Eighth Session of the International Bioethics Committee (IBC)
was held at UNESCO Headquarters in Paris from 12 to 14 September
2001. It was attended by around three hundred and fifty participants from
seventy different countries.
2. In accordance with the Agenda of this session (see Annex), the IBC
considered two draft reports drawn up by its working groups: the first on
ethics, intellectual property and genomics and the second on the
collection, treatment, storage and use of genetic data. One session was
devoted to a round table on ‘Education in Bioethics and Youth’ and a
state-of-the-art on ethical aspects of proteomics was presented. Finally,
Commissioners for the Protection of Personal Data were heard.
3. Meetings reserved for members of the IBC were held prior to the
opening of the Eighth Session and immediately following its closure.
These meetings provided the IBC with an opportunity to examine and
adopt amendments to its Rules of procedure proposed by an ad hoc
group set up for this purpose; to take stock of follow-up action on the
recommendations made at the Seventh Session of the IBC; to adopt a
work programme following the presentation of the implementation of
activities carried out, particularly within the framework of the follow-up of
the Universal Declaration on the Human Genome and Human Rights and,
last but not least, to deliver an Advice on the patentability of the human
genome (see Section IX of this Report).
4
II. Opening of the Eighth Session of the IBC
4. In his opening address, the Director-General of UNESCO,
Mr Koïchiro Matsuura, expressed his consternation at the attacks
perpetrated in New York and Washington on 11 September 2001. He
condemned terrorism and pointed out that ethical reflection was more
than ever necessary to promote world peace. He called attention to the
pioneering role of the IBC in this area and recalled the preponderant role
that bioethics would play in the post-genomic era. The patentability of the
human genome, research applications and protection of genetic data are
all topical questions to which solutions must be found at international
level. In particular, he laid emphasis on the need to draw up an
international instrument on genetic data. He described his initiative to
create an inter-agency committee responsible for ensuring better
coordination of the activities carried out by the various organizations of
the United Nations system in the field of bioethics. He also referred to the
Round Table of Ministers of Science on bioethics organised by UNESCO
on 22 and 23 October 2001, which would be a highlight of the 31st
session of the General Conference. Finally, he felt that the time had come
for UNESCO to examine in detail the feasibility of preparing a universal
instrument to cover all bioethical issues.
5. Mr Ryuichi Ida, Chairperson of the IBC, in turn stressed the
fundamental importance of bioethics in the contemporary world. He
reminded the meeting that vigilance was more necessary than ever,
particularly in regard to human reproductive cloning. He summarized the
fruitful work of the Seventh Session of the IBC (Quito, Ecuador, 7-9
November 2000) and of the Second Session of the Intergovernmental
Bioethics Committee (IGBC) (Paris, 14-16 May 2001). He welcomed the
Director-General’s proposal to create an inter-agency committee, as
coordination of efforts in the bioethics area is essential to respond to the new
problems raised by the exceptionally rapid progress of biomedical science.
6. In her address, Professor Anne Fagot-Largeault, Chair of Philosophy
of Biological and Medical Sciences at the Collège de France, laid
emphasis on the need for ethical reflection and action at international
level. Although the pitfalls are real, pessimism is not in order. The
diversity of cultural traditions might, from time to time, seem to pose an
obstacle, but it is this very richness that embodies the possibility of
defining common values and principles, as can be seen from the
successful action of the IBC and the adoption of the Universal Declaration
on the Human Genome and Human Rights in 1997. Patience, modesty
and courage are the key words to ensure implementation of the principles
set forth in the Declaration.
5
7. The addresses delivered during this opening ceremony are included
in these Proceedings.
III. Round Table on ‘Education in Bioethics and youth’
8. The Round Table on ‘Education in Bioethics and Youth’ chaired by
Mrs Yolande Tano (Côte d’Ivoire), Vice-President of the University of
Abobo-Adjamé, brought together several representatives of young people.
Mrs Tano pointed out that this Round Table reflected a desire to enable
young people, who tomorrow will be the relay for responsibility of
bioethical action, to have their say: this in conformity with Article 20 of the
Universal Declaration on the Human Genome and Human Rights, which
stresses the vital need for education in bioethics.
9. The presentation by Miss Catalina Alvarez Irarragori (Cuba), Centre
of Genetic Engineering and Biotechnology, underlined the risks of abuse
linked to the biotechnological revolution. In particular, commercial
interests must not be allowed to govern the progress of medicine.
Scientists, university teachers, students, politicians and civil society
should reflect collectively on the means of creating a framework for
scientific research. The creation of a social contract could consolidate
respect for ethical commitments.
10. The address by Miss Natacha Freitas (Portugal), Chairperson of the
Youth Council of the UNESCO Club Vila Nova de Gaya, highlighted the
importance of education and regulation in bioethics. A balance must be
struck to enable regulatory provisions to provide a framework for scientific
research without acting as an obstacle to it. In Portugal for example, since
1997 legislation has regulated the conditions under which medically-
assisted procreation is permitted. Human life must always prevail over
economic interests and clinical tests. The status of the human being, and
in particular that of the embryo, must be defined. An international meeting
on young people and bioethics will in fact be held in Portugal in 2002 to
deal with some of these matters.
11. Miss Sandra Goritschnig (Austria), National Director of the
International Association of Agricultural Students (IAAS), advocated wider
dissemination of information. The patentability of the human genome,
genetically-modified organisms (GMOs) and cloning were all matters of
interest to the general public. It would therefore be appropriate for the
public to take part in the debate and to be given the opportunity to form an
opinion on the basis of enlightened information. With that end in view,
students must be made aware of the ethical impact of their future
6
professional practices. An international and interdisciplinary conference
for pharmaceutical students on the topic of bioethics would therefore be
organised in Vienna (Austria) from 21 to 24 November 2001.
12. The increasingly close links between scientific research and industry
were touched upon by Miss Young-bin Kwak (Republic of Korea),
Department of International Relations of Seoul National University.
Concerns about the possible risks of the use of biotechnology were being
voiced increasingly here and there. The progress of science could lead to
new forms of discrimination, which presuppose appropriate measures to
protect human rights. The existence of international bodies, such as the
IBC responsible for the protection of human rights in biotechnologies, is
all the more essential.
Discussion
13. In the discussion which followed, the need for broadly disseminated
scientific information and for the teaching of basic bioethics was
reaffirmed. Over and above the mere transmission of ethical norms,
education in bioethics must reconcile the development of a scientific,
religious and philosophical cultures. To create greater awareness among
young people, bioethical teaching could be envisaged at the end of
secondary school studies. The need to formulate concrete proposals was
also highlighted. A methodology is essential to determine the content of
bioethical teaching. A programme capable of transcending cultural
differences and promoting a universal understanding of bioethics must be
defined.
14. Bioethics is based on a dynamic relationship between technological
developments and ethical choices. The balance born from this
relationship guarantees the limits within which science may progress.
Bioethics can act as the guardian of fundamental rights and freedoms
only if a permanent dialogue with researchers is maintained.
15. Mrs Tano thanked the four speakers. She welcomed the quality of
their presentations and pointed out that the subjects they had chosen to
deal with and the diversity of their approaches illustrated the experiences
and projects under way in different countries in the area of education in
bioethics.
7
IV. State of the Art on Ethical Aspects of Proteomics
16. The second session chaired by Professor György Kosztolányi
(Hungary), Head of the Department of Medical Genetics and Child
Development at the University of Pécs, was devoted to the hearing of an
expert on the current state of ethical aspects of proteomics.
17. Professor Thierry Rabilloud, of the Laboratory of Cellular and
Pathological Bioenergetics at the French Commissariat for Atomic Energy
and Senior Editor of Proteomics, gave a brilliant presentation on recent
progress in proteomics. He demonstrated the specificity of proteomic
analysis and highlighted the similarities and differences between the use
on one hand of genomic research and, on the other, of proteomic
research. Finally, he outlined the role that proteomics could occupy in the
post-genomic era and laid emphasis on the ethical issues which might be
raised by this new branch of research.
Discussion
18. The participants focused mainly on the ethical challenges posed by
proteomics. To the extent that proteomics is a purely analytical typing
technique, the associated ethical problems it raises depend on the
possible application to the living sphere, in particular to human beings. At
the heart of these ethical issues, the key problem is the patentability of
living matter. The need to distinguish between an invention and a
discovery and not to treat human beings as mere material was affirmed.
Similarly, fear was expressed that patents of living matter might be filed
via proteomics research.
19. The setting up of protein banks was discussed. Proteins deteriorate
faster than DNA and rapidly become unusable. This limited duration in
time makes their use less problematic than that of genetic data banks.
20. Mr Kosztolányi thanked Mr Rabilloud for his highly instructive
presentation whose rich content and interest were acknowledged by all
the participants. He felt that the existence of a common field of study
shared by proteomics and genetics had been made clearly apparent by
this presentation.
V. Proposals of the IBC Working Group on Ethics,
Intellectual Property and Genomics
21. At the initiative of the Director-General, an International Symposium
on ‘Ethics, Intellectual Property and Genomics’ took place at UNESCO
Headquarters from 30 January to 1 February 2001. Following this
8
Symposium, the Director-General entrusted the IBC with drawing up
proposals for follow-up to this initiative. A working group, chaired by
Mr Patrick Robinson (Jamaica), Judge at the International Criminal
Tribunal for the former Yugoslavia, was therefore set up and convened in
Paris on 13 and 14 June 2001 to prepare proposals for presentation and
discussion at the present IBC session.
22. The session devoted to the examination of these proposals was
chaired by Mr Hans Galjaard (Netherlands), Professor of Human Genetics
and Head of the Clinical Genetics Department at Rotterdam University
Hospital. Mr Galjaard called attention to the importance of the question of
ethics, intellectual property and genomics and reminded the gathering of
the key role that it must play in the reflection of the IBC. Judge Robinson,
for his part, presented the broad outline of the draft report prepared by Mr
Michael Kirby, Justice of the High Court of Australia. He pointed out that
while this text stressed the advantages of the protection of intellectual
property, it nevertheless called attention to the drawbacks of patentability
of the human genome. He also pointed out that this report was drawn up
by the working group in a concise manner to better clarify the proposals
formulated. The quality of the document prepared by Judge Kirby and the
clarity of the presentation by Judge Robinson were acknowledged by the
participants.
Discussion
23. The recommendations formulated by the working group were the
central point of the discussion. The recommendation concerning
examination of Article 27.2 of the Trade Related Aspects of Intellectual
Property Rights Agreement (TRIPS) that the World Trade Organization
(WTO) to ‘clarify that it constitutes an exception of patentability in respect of
the human genome on the basis of the public interest considerations’
attracted much comment. Article 27.2 seems to offer a margin for
interpretation which should be the subject of joint study by the organizations
concerned, in particular UNESCO and WTO. On the basis of considerations
of public interest expressly referred to in Article 27.2
(1)
the exception from
patentability for the human genome should be made clearer.
1. ‘Members may exclude from patentability inventions, the prevention within
their territory of the commercial exploitation of which is necessary to protect ordre
public or morality, including to protect human, animal or plant life or health or in
order to avoid serious prejudice to the environment, provided that such exclusion is
not made merely because the exploitation is prohibited by their law.’
9
24. The issue of patentability and genomics must be dealt with in a
balanced way. It is not a matter of outrightly rejecting all patents linked to
genomics applications; nobody doubts its indispensable nature. Certain
genetic sequences have already led to the production of valuable
pharmaceutical preparations. The patent system is therefore necessary
for therapeutic advances and excessive limitation might delay the
introduction of new pharmaceuticals. The fear that the high cost of some
pharmaceuticals obtained by genetic engineering might deprive a part of
humanity of access to health care was expressed forcibly. Nevertheless,
the question of the price of pharmaceutical products whose prohibitive
costs sometimes makes them inaccessible to the most underprivileged
members of society, especially in developing countries, must not be
confused with the matter of patents. It would be opportune to seek a
formulation that ensures access to pharmaceuticals for everyone or else
to invite the laboratories to respect some moral obligations in the
treatment of serious or presently incurable illnesses. An observatory to
follow this matter could be set up under the aegis of UNESCO.
25. With regard to the possible creation, within the United Nations
system, of a world fund to acquire for the benefit of humanity the
intellectual property that is privately owned in relation to human genome
sequences, suggested by the Working Group, the idea of launching an
international appeal to persuade researchers to assign their intellectual
property rights to such a fund was mooted. The term ‘mechanism’ as used
in the IBC Report on Solidarity and International Cooperation between
Developed and Developing Countries concerning the Human Genome
would no doubt be more appropriate. The convergence of the two
proposals of the IBC is to be noted, especially as it accords with the
‘Statement on Benefit Sharing’ Human Genome Organisation (HUGO).
Bilateral agreements between a State and the pharmaceutical industry
might be another approach. The example of South Africa and Brazil were
mentioned as illustrations of possible solutions to this general problem.
26. The need to associate with and inform the general public was once
again highlighted. Without enlightened and broadly circulated information,
the wide-ranging creation of an awareness of these new issues would not
be possible.
27. Judge Robinson thanked the speakers and reminded them that all
the observations made would be taken into account in the finalization of
10
the Report
(2)
. Mr Galjaard wound up the meeting by welcoming the fruitful
debate to which the document had given rise and pointed out that the
work of the IBC held out prospects for considerable progress in this field
(see Section IX of the present Report).
VI. Hearing of Commissioners for the Protection of
Personal Data
28. This hearing fell directly in line with the initiative taken by the
Director-General’s proposal for the 2002-2003 biennium to begin the
elaboration of an international instrument on genetic data, with particular
reference to the collection, processing, storage and use of such data. In
the framework of this initiative, three personal data protection
commissioners were invited to consider the subject of genetic data from
the angle which seemed most appropriate to them and to broach issues
they considered to be the most important.
29. The meeting was chaired by Mr Roberto Andorno (Argentina),
Professor of Civil Law. He referred to new forms of discrimination that
might arise from access to genetic information, notably in the judicial field.
Mr Andorno pointed out that this matter was such a pressing topic that the
Argentine government had asked for it to be examined by the session of
the United Nations Economic and Social Council in July 2001. UNESCO
had in fact presented a document on this matter and ECOSOC had
adopted a resolution on 27 July 2001.
30. The presentation by Mr Joël Boyer, Secretary-General of the
Commission nationale de l’informatique et des liberté de la France (CNIL),
outlined the French legislation applicable to genetic tests and data and
data files or bases to which they might give rise. The specific nature of
genetic analysis has been acknowledged since 1994 in French legislation
which poses two series of conditions: the ultimate purposes and rights of
individuals. There are three sorts of objectives: the characteristics of an
individual may only be studied solely for medical or research purposes,
within the framework of a judicial procedure either civil or criminal.
Moreover in the areas of employment, insurance and social protection,
any discrimination based on the use of genetic tests is a punishable
offence. Finally the rights of individuals makes their consent imperative.
2. The IBC Report on Ethics, Intellectual Property and Genomics finalized on
the basis of the work of the Eighth Session is available on the Internet
(http://www.unesco.org/ethics
) and published in these Proceedings.
11
Three situations might therefore arise: identification in civil matters, in
criminal matters or in medical or scientific research. The question of dual
consent and prior information, often overlooked, requires a more effective
legal framework. It is the opinion of the CNIL that only the person directly
concerned may inform family members who might be affected by genetic
information. As to the databases, the French law of 6 January 1978
authorizes the automated treatment of personal data. The CNIL must be
notified of everything: the use for which the database is intended, the
nature of the processed information, the persons for whom this database
is intended and the time for which the base is kept.
31. In her address, Mrs Bénédicte Havelange, Secretary-General of the
Belgian Commission for the Protection of Privacy, recalled the
fundamental nature of an issue that touched upon philosophy, ethics and
science to the extent that in a sense genetic data constitutes the
informational replica of the individual. In this context the Belgian
Commission delivers opinions, acts as a mediator and provides
information. Belgian law seems adequate at present. It does not comprise
specific statutory provisions on the ultimate objectives of genetic
analyses, but rather sets forth principles aimed at protecting rights and
freedoms. In the area of insurance, whilst it is normal to seek to reduce
the commercial risk, refusal of entitlement to insurance is not permissible.
Belgian law therefore formally bans such practices. On the other hand,
there are no specific laws in the field of employment, because no
complaints had yet been registered on discrimination at the recruitment
stage founded on genetic characteristics. In the criminal law area, the
Commission had, however, issued a number of opinions notably
concerning DNA samples taken in the course of criminal investigations
and the databases set up. There is a need to reconcile public security with
respect for individual liberties and the infallibility of scientific proof must be
questioned. Finally, Mrs Havelange emphasized the need for a debate
between all parties concerned, in particular between civil society and
politicians.
32. Mr George Radwanski, Privacy Commissioner of Canada, laid
emphasis on the importance of the Universal Declaration on the Human
Genome and Human Rights, the only international instrument in this area.
New norms for protection of privacy must accompany progress in
research. The employment and insurance sectors, where particular
vigilance is required, need a code for the protection of genetic
confidentiality. This code should be both prescriptive and directive, seek
to avoid abuse and give individuals from whom data had been obtained
12
the right to access the genetic information. It should comprise a series of
clauses guaranteeing the fundamental and inalienable right of each
individual to protection of his/her personal genetic information. In addition,
the inalienable right of persons to their privacy must be asserted. For that
purpose they must be given control over the collection and storage of
genetic data relating to them. The respect for confidentiality is vital to
avoid the dangerous path of discrimination based on genetic
characteristics. The code should also take account of the right not to
know. It should also prohibit discrimination based on genetic
characteristics in the sectors of employment, insurance, education or
criminal law. Dual consent, i.e. a requirement for renewed consent to be
obtained from the individual if the same genetic sample were to be used
for other research, should also be stipulated. Last but not least,
supervisory mechanisms must be set up to ensure respect for such a
code.
Discussion
33. These presentations raised many topics of discussion and paved the
way for a debate in the IBC on the Draft Report of the Working Group on
Genetic Data (see Section VII of this Report).
34. The absolute necessity for free and informed consent and the
ambiguity of use and results of genetic tests were once again highlighted.
Genetic testing might be too revealing or not revealing enough because it
is often just a simple prediction. The predisposition of an individual to an
illness does not necessarily mean that this illness will occur. The use of
profiling in criminal investigations, which is still not properly defined in
legislation, should not be allowed to encroach upon the integrity of
persons. It would be desirable to strike a just balance between the rights
of society and those of individuals.
35. The danger of discrimination against specific groups, in particular
indigenous populations, was mentioned. Serious drifts could occur with
claims to the genetic superiority of a particular group. To rule out that
possibility it might be appropriate to make provision for exceptional
situations.
36. Mr Andorno thanked the three speakers and pointed out that their
highly informative presentations would no doubt make a precious
contribution to the future work of UNESCO in the area of genetic data.
13
VII. Genetic Data: Report of the IBC Working Group
37. Given the rapid development of genetics resulting in a proliferation
and extension of genetic databases and the increasingly frequent use of
this data for non-medical purposes that were sometimes ethically dubious,
and on the basis of the proposals formulated by IBC at its last meeting,
the IBC had decided to set up a Working Group on Genetic Data which
met at UNESCO Headquarters in Paris on 14 and 15 June 2001 under the
chairmanship of Mrs Nicole Questiaux (France).
38. The Draft Report on the Collection, Processing, Storage and Use of
Genetic Data was presented by the two Rapporteurs of the Working
Group, Professor Sylvia Rumball (New Zealand), Assistant to the Vice-
Chancellor of Massey University and Alexander McCall Smith (United
Kingdom), Professor of Medical Law and Vice-Chairman of the Human
Genetics Commission of the United Kingdom. Mrs Rumball called
attention to the complex structure that sought to define the fundamental
purpose of the collection of genetic data, the underlying principles of
standards to be adopted for the collection, processing, storage and use of
genetic data and the application of these principles; she expressed her
conviction that the issue of genetic data justifies the elaboration of an
instrument dealing exclusively with this subject. Mr McCall Smith, for his
part, stated that the principles set out in the draft report could serve as a
basis for the drafting of a declaratory instrument. He pointed out that a
desire not to be too prescriptive at this stage of reflection in the IBC had
inspired their joint work.
Discussion
39. Many comments focused on the need to make a clear distinction
between the storage and collection of genetic samples taken for medical
purposes and those obtained for research. Specific guarantees must be
defined for each of these two uses. It would be desirable to provide a
clear definition of the notion of ‘informed consent’. Consent of the donor
must be sought whenever new research is undertaken on the same gene.
The donor must be assured of the possibility of withdrawing this consent
whenever he wishes.
40. In some cases, specific questions arise over the taking of genetic
samples. In the developing countries, respect for the rights of the
populations from whom genetic samples are taken must be safeguarded;
in particular, their informed consent must be obtained on each occasion.
14
The consent of the donors must not be extorted but granted according to
the rules of informed consent. The question of the profits earned by the
pharmaceutical laboratories and the channelling of these profits back to
the populations from whom genetic samples were taken was also raised.
The allowances paid to donors are often derisory, measured against the
profits earned by the laboratories. It would therefore be appropriate for
databases to be exploited by the developing countries to enable them in
turn to develop their research and medical infrastructures. In this regard,
the final text of the report might incorporate a principle setting out a more
equitable distribution of the profits of research in this field.
41. The fight against discrimination based on genetic characteristics,
notably by insurers or employers, must be a priority in the different legal
systems. With that end in view, it would be appropriate for States to make
efforts to ensure that ethics asserts its supremacy over economic
interests. The IBC might of course coordinate these initiatives and make
its particular contribution to the efforts undertaken. If this desire of
preventing discrimination were to play a clearer part in the report it must
be combined with the principle of equality.
42. A particular study might be made of the rights of children referred to
in the draft report in Guideline 19. The violation of the rights of children all
over the world is a constant source of grave anxiety and must be dealt
with in the report. In particular, the issue of consent for the pre-
symptomatic testing of children at risk for late-onset disease needs to be
given serious examination.
43. With more particular reference to the draft report, a number of
observations were made. It would be appropriate for the notion of
solidarity to be given greater prominence. For that purpose, the principle
of solidarity should be added to the six basic principles detailed in the
document. Similarly the notion of privacy must be associated with that of
confidentiality. A paragraph dealing with the responsibility of researchers
would also be welcome. As to the principle of ownership, this could be
dealt with in the context of the notions of social conscience and security.
As a general rule a more concise form and a clearer hierarchy of the
stated principles could make the text more effective. Finally, the terms
used in the Universal Declaration on the Human Genome and Human
Rights should be employed whenever possible.
15
44. The Rapporteurs thanked the speakers for their comments and
invited all those who so wished to forward their comments in writing with a
view to the finalization of the report
(3)
. Mr Andorno in turn thanked the
Rapporteurs for their desire to highlight precise criteria that emerged from
their document and felt that this concern for accuracy was certain to prove
useful at the different stages of elaboration by the IBC of the instrument
on genetic data.
VIII. Coordination of Activities and Reflection concerning
Bioethics Carried out by Various International
Organizations with a view to Enhanced Cooperation
45. This session, chaired by Mr Ryuichi Ida, Chairperson of the IBC, was
in line with the initiative taken by the Director-General of UNESCO to
propose the creation of an inter-agency committee on bioethics. Mr Ida
pointed out that the Director-General of UNESCO had proposed the
creation of this committee to Mr Kofi Annan, Secretary-General of the
United Nations, to ensure coordination of the activities carried out by the
various organisations in the field of bioethics. The establishment of this
committee would be discussed at a consultative meeting at UNESCO
Headquarters in Paris on 17 September 2001. Mr Ida pointed out that
cooperation between the various international bodies was the surest way
to promote universal bioethics. Contributing to this coordination between
international institutions and organisations was a priority goal of the IBC.
The representatives of four organisations – the European Commission,
the Council of Europe, the World Health Organization (WHO) and
UNESCO – outlined the broad principles of the activities pursued by their
respective organisations in the field of bioethics.
46. Mr Georges B. Kutukdjian, Secretary-General of the IBC, gave a
broad outline of the programme of bioethics to be proposed by the
Director-General of UNESCO to the 31st Session of the General
Conference. This programme is structured around four main subjects: 1)
the role of the intellectual forum for the pursuit, in particular by the IBC, of
reflection on issues that raise ethical, legal and social challenges, notably
those whose examination by the IBC had been recommended by the
IGBC at its second session, i.e. pre-implantation diagnosis and germ-line
interventions; 2) normative action: together with the elaboration of
3. The report on the Collection, Processing, Storage and Use of Genetic Data
can be consulted on the Internet (http://www.unesco.org/ethics
) and is published in
these Proceedings.
16
possible instruments, UNESCO would evaluate the impact of the
Universal Declaration on the Human Genome and Human Rights and look
into ways and means of strengthening its principles and assuring their
implementation in national legislation; 3) the advisory role which UNESCO
must play for the Member States and governmental and non-
governmental institutions; 4) the desire of UNESCO to strengthen its
action of education and bioethics awareness at all levels: education in
bioethics has been encouraged in universities and is starting to be
introduced in secondary schools. Dissemination of information has
furthermore been ensured by a number of publications, notably the IBC
and IGBC reports.
47. Mr Victor Boulyjenkov, representing the WHO, called attention to the
main issues that his Organization wished to examine as part of a dialogue
with UNESCO and other international organisations. These topics
included medical applications of genetics and the possible discrimination
they might generate; therapeutic applications of genomics for developing
countries which must benefit in equal measure with developed countries;
creation of an awareness of bioethical issues and the promotion of
education in biomedical ethics in medical circles.
48. Mrs Barbara Rhode, Head of the Unit for Ethics in Science and
Research at the European Commission, recalled the existence within the
Commission of a consultative group – the European Group for the Ethics
of Science and New Technologies at the European Commission (EGE).
This group is made up of members drawn from different backgrounds who
are invited to comment on major ethical matters in debates and hearings. A
new division whose role is to examine research activities financed by the
European Commission - not only concerning bioethics but also the ethics of
the information society - had also been set up at the Commission.
49. Mrs Sandrine Sabatier presented the action taken by the Council of
Europe, notably through its Steering Committee on Bioethics (CDBI),
which was at the origin of the European Convention on Human Rights and
Biomedicine and additional protocols dealing with specific issues such as
human cloning. The CDBI also acts in the context of the public debate and
gives its support to the European States which express such a wish.
Finally the Council of Europe has set up a European Conference of
National Ethical Committees (COMETH), which seeks to promote
cooperation between national ethical committees at European level,
public debate in the field of bioethics, assistance to the European
countries that wished to establish a national ethics committee.
17
Discussion
50. During the discussion, the convergence of views of the various
bodies represented was emphasized and the cooperation that( already
existed between these organisations welcomed. The importance of their
coordination in the area of normative action and with a view to common
reflection had been highlighted. Moreover, such coordination is
conditional on the establishment by the organisations themselves of a
work plan and the prior definition of their priorities to create the necessary
synergies.
51. An exhaustive list of the organisations working in the field of
bioethics, specifying the respective terms of reference and objectives of
the organisations concerned, would be a useful working instrument. In this
regard, the Secretary-General of the IBC pointed out that UNESCO was
preparing a directory of national, regional and international institutions,
which would soon be available as a paper publication and also circulated
on the UNESCO Internet site.
52. The international organisations should make a greater effort to
ensure that the discussions between experts – which were certainly highly
instructive – also be made accessible to the general public. The
documents issued by the different secretariats would accordingly benefit
from greater visibility. With that end in view, the different instruments
available to reach the general public should be explored, especially the
Internet.
53. Mr Ida concluded by stressing the need for closer coordination and
cooperation between all intergovernmental, international and regional
organisations for which the conditions were now brought together through
the inter-agency committee on bioethics.
IX. Conclusions
54. In accordance with Article 7 of its Statutes, the IBC adopted by
consensus the following Advice on the Patentability of the Human
Genome (14 September 2001):
‘Article 1 of the Universal Declaration on the Human Genome and
Human Rights states that: ‘The human genome…, in a symbolic
sense, is the heritage of humanity’. Article 4 further states that: ‘The
human genome in its natural state shall not give rise to financial
gains’.
18
The rapid progress of genomics and research on its
pharmaceutical and other applications, has led to a worldwide
debate on the meaning of these provisions. Governments and non-
governmental organisations have expressed concern that the
patentability of the human genome might hamper genetic research
and lead to a monopoly of this important new scientific knowledge. It
is to be feared that such patentability might deprive many
populations of the world of the benefits of therapies whose
development was founded on knowledge of the human genome.
To clarify this matter and to contribute to the subsequent
development of an equitable system of intellectual property relating
to the human genome, the IBC drew the Director-General’s attention
to the following opinion:
(1) The IBC, after considering this issue, is of the view that
there are strong ethical grounds for excluding the human
gneome from patentability;
(2) It further recommends that the World Trade Organization
(WTO), in its review of the TRIPS Agreement, clarify that, in
accordance with the provision of Article 27(2), the human
genome is not patentable on the basis of the public interest
considerations set out therein, in particular, public order,
morality and the protection of human life and health.’
55. In accordance with Article 2 (2) of its Statutes, the IBC also defined
its own work programme. Apart from the elaboration of an international
instrument on genetic data entrusted to a drafting group, it retained the
following subjects:
- pre-implantation genetic diagnosis (recommended by the IGBC);
- germ-line interventions;
- the possibility of drawing up a universal instrument on
bioethics;
- dissemination of information on bioethics;
- follow-up of IBC reports dealing respectively with solidarity and
international cooperation between developed and developing
countries concerning the human genome and on the ethical
aspects of intellectual property concerning genomics.
56. As far as the long-term work programme is concerned, the IBC
entrusted its Bureau, after consultations with members of the IBC, with
drawing up a list of topics by order of priority.
19
X. Closure
57. At the end of this Eighth Session of the IBC, the Chairperson,
Mr Ryuichi Ida, welcomed the fruitful work achieved during these days of
reflection and discussion. The efforts deployed by the IBC to deepen
bioethical study were welcomed by the Director-General of UNESCO,
Mr Koïchiro Matsuura, whose proposals were largely taken into account
by the Committee at its working meetings. This session provided an
opportunity to take a further look at the meaning of bioethics, its scope, its
field of action and what it represents for humanity. It illustrated the
responsibility of young people willing to continue the work already begun
in order to prevent bioethics from remaining a mere pious wish and had
enabled the challenges of proteomics in the post-genomic era to be better
understood. The Eighth Session also enabled the importance of setting up
a mechanism to assure closer coordination and cooperation between the
various international organisations, as requested by the Director-General,
to be assessed. As to the international instrument on genetic data, the
Commissioners for the protection of personal data had put forward
practical considerations on which the IBC and UNESCO would certainly
build further when drafting that new instrument. Finally, the rich and
precise observations put forward by the participants on the Draft Report
by the Working Group on Genetic Data would certainly enrich the revision
of the text before its finalization.
58. Before closing the session, Mr Ida thanked the members of the IBC
for their active role and the passionate interest they had once again
shown. He also thanked all the members of the UNESCO Secretariat who
had contributed to the success of this session. Through their combined
efforts and tireless determination the universal message of bioethics could
be conveyed to humanity.
20
ANNEX I
E
IGHTH
S
ESSION OF THE
I
NTERNATIONAL
B
IOETHICS
C
OMMITTEE OF
UNESCO (IBC)
Paris, 12-14 September 2001
_______________
Agenda
1. Opening of the Eighth Session of the IBC;
2. Round-Table on ‘Education in Bioethics and Youth’
(1)
;
3. Ethical Challenges raised by Brain Research: Cerebral Imaging,
Grafts, Implants – State of the art;
4. Ethical Aspects of Proteonomics – State of the art;
5. Report of the IBC Working Group on Genetic Data;
6. Hearings of Commissioners for the Protection of Personal Data;
7. Proposals of the IBC Working Group with a view to the Follow-up of
the International Symposium on ‘Ethics, Intellectual Property and
Genomics’;
8. Co-ordination of activities and reflection concerning bioethics carried
out by various international organizations, with a view to increased
co-operation;
9. Review of the Rules of Procedure of the IBC and follow-up on the
Recommendations of the Seventh Session of the IBC
(2)
;
10. Work Programme of the IBC for 2002-2003 and preliminary proposals
for 2004-2007
(2)
;
11.
Closure of the Eighth Session of the IBC.
1. The Round Table is organized in co-operation with the Youth Coordination Unit of
UNESCO (BPE/UCJ).
2. Items 9 and 10 will be examined during meetings reserved for the members
of the IBC.
21
Chapter 2
H
UMAN
G
ENETIC
D
ATA
:
P
RELIMINARY
S
TUDY BY THE
IBC
ON ITS
C
OLLECTION
, P
ROCESSING
, S
TORAGE AND
U
SE
Rapporteurs:
Sylvia Rumball and Alexander McCall Smith
This Report was revised on the basis of discussions at the
Eighth Session of the IBC (Paris, 12-14 September 2001) and
of written comments sent by members of the IBC. It was further
revised on the basis of discussions at the first meeting of the
Drafting Group of the IBC (Paris, 11-12 February 2002) and
written comments sent by members of that group.
The purpose of the Report is to document the range of issues
contained within the topic ‘Collection, Processing, Storage and
Use of Human Genetic Data’. It is by nature a preliminary
document and should not be regarded as definitive. It is
recognized that some issues need further development, for
example issues concerning databases, ownership of human
genetic data, the differing requirements of identified, de-
identified and anonymous biological samples and the impact of
the purpose (medical, research, forensic, etc.) for which the
samples were collected on the procedures. The guidelines
themselves, including both their order and number, are to be
regarded as preliminary.
As agreed at the Eighth Session, this Report will be used by
the Drafting Group of the IBC as a working document for the
drawing up of an international instrument on human genetic
data.
22
I. Introduction
1. Every scientific revolution brings with it a host of ethical and social
questions. The so-called genetics revolution is no exception, giving rise to
a broad international debate on how the undoubted benefits of progress in
this area can be reconciled with certain core human values.
2. General guidance for researchers concerning the conduct of
research with human participants has been provided in various
international documents, particularly the Nuremberg Code, the World
Medical Association Declaration of Helsinki and the International Ethical
Guidelines for Biomedical Research involving Human Subjects of the
Council for International Organisations of Medical Sciences (CIOMS).
3. One of the most significant contributions to this debate has been
UNESCO’s Universal Declaration on the Human Genome and Human
Rights, adopted by the General Conference of UNESCO in 1997 and
endorsed by the General Assembly of the United Nations in 1998. This
document, which was conceived and elaborated by the International
Bioethics Committee of UNESCO (IBC), has proved to be a firm
foundation for the debate, setting out basic propositions as to the moral
status of the human genome. It represents international consensus on
how our genetic inheritance should be treated, placing moral limits to what
may be done with genetic knowledge.
4. The Universal Declaration on the Human Genome and Human
Rights has proved to be a good reference point in a complex and
sometimes confusing debate. Many voices have been raised, and there
have been numerous statements on ethical issues by governmental and
intergovernmental sources. Science itself has not ignored its
responsibilities in this area and throughout the world scientific
organisations have commented on the ethical principles that should guide
the direction of scientific endeavour in genetics. The Declaration on
Science and the Use of Scientific Knowledge, which was adopted at the
UNESCO/ICSU World Conference on Science and endorsed by the
General Conference of UNESCO in 1999, also provides guidance. As a
result, a body of recommendations and regulations has built up.
5. The IBC has specific responsibility for promoting the Universal
Declaration on the Human Genome and Human Rights and explaining its
implications, a matter which it reported upon in its Report on this issue
(Report of the Working Group on the Follow-up of the Universal
Declaration on the Human Genome and Human Rights, 1999). The follow-
up work has continued too, in a number of other forms. In particular, a
23
working group was set up to investigate issues of confidentiality, and this
resulted in the publication of the IBC’s Report on Confidentiality and
Genetic Data
(1)
.
6. While there are indications that the Universal Declaration on the
Human Genome and Human Rights is reaching its desired audience and
is being taken into account in national deliberations, the need for
UNESCO to play a role in the international debate on the ethics of
genetics continues. Indeed, given the rapid developments in human
genetics, with increasing numbers of genetic databanks being
established, controversial uses of genetic data, and increasing non-
medical use, it could be argued that this role is now more important than
ever and is one that UNESCO is uniquely placed to fulfil. Through the
encouragement of debate, UNESCO can assist individuals, institutions
and States to translate the spirit of the Universal Declaration on the
Human Genome and Human Rights into more concrete areas of concern.
7. At its meeting in May 2001 the Intergovernmental Bioethics
Committee (IGBC) of UNESCO made the recommendation that the IBC
should, when examining the issues related to genetic data, ‘distinguish
between the different types of data and continue to examine the issue of
disclosure of genetic information to third parties’.
8. The Director-General of UNESCO has therefore identified the issue
of human genetic data as an area in which the IBC might assist in the
elaboration of an instrument addressed to the international community,
setting out the principles under which human genetic data should be
handled, and this recommendation is contained within the Programme
and Budget for 2002-2003 (31 C/5), which was approved by the General
Conference of UNESCO in November 2001. The precise form of this
instrument remains to be settled, but it has been proposed that ultimately
there is a place for a declaration of the same status as the existing
Universal Declaration on the Human Genome and Human Rights, sitting
alongside it and complementing the principles which it proclaims.
9. The project would not be concerned with some of the broader ethical
issues that are dealt with in the Universal Declaration on the Human
Genome and Human Rights. Its focus would be on the very specific issue
of how genetic information about individual persons, families and
populations is collected, processed, stored and used. While this area may
1. These reports have been published in the Proceedings of the Sixth Session
of the IBC (Rabat, Morocco, 1999) and are available on Internet
(www.unesco.org/ethics
).
24
seem narrow in scope, it gives rise to major questions of principle. It is
also a central point in the wider debate on how personal information is to
be protected in a world in which such information may be gathered and
distributed with ever-increasing ease. It therefore addresses fundamental
issues of human dignity as well as touching upon the fears that many
people have as to how knowledge of some of the most intimate details of
their lives might be protected from abuse. The topic is therefore one of
considerable human rights significance while at the same time is one of
major concern to the public.
10. In order to explore this issue a Working Group of the IBC was set up
and met at UNESCO Headquarters on 14 and 15 June 2001 to discuss
the possibility of drafting such an instrument (see Composition of the
Working Group in Annex). During the course of the meeting, a wide range
of issues was examined, beginning with a consideration of whether such
an instrument was needed and ending with an attempt to identify, on a
preliminary basis, what matters might be included within the instrument.
II. The Need for an Instrument
11. While numerous reports, recommendations, codes and laws dealing
with the issue of human genetic data exist, the Universal Declaration on
the Human Genome and Human Rights is currently the only universal
international instrument.
12. At a regional international level, a prominent instrument is the
Council of Europe’s Convention on Human Rights and Biomedicine,
several articles of which are directly or indirectly concerned with genetic
information. (Work is currently proceeding on the drafting of a genetics
protocol to this Convention.)
13. Also at a regional international level, but emanating from non-
governmental organisations, there are ethical statements from bodies
such as the World Medical Association (Declaration on the Human
Genome Project, 1992) and the Ethical Legal and Social Issues
Committee of the Human Genome Organization (Statement on DNA
Sampling Control and Access, 1998).
14. At a national level, statements and codes have been issued by
research funding organisations, national ethical committees or
professional bodies. Examples include statements from the Council for
Science and Technology of Japan (Fundamental Principles of Research
on the Human Genome, 2000), the American College of Medical Genetics
(Statement on Storage and Use of Genetics, 1995), the UK Clinical
25
Genetics Society (Guidelines for DNA Banking, 1989) and the Health
Research Council of New Zealand (Ethical Considerations for Research in
Human Genetics, 1998). There are also national data protection or privacy
laws, the effect of which is to establish protection, to a greater or lesser
extent, of the confidentiality of human genetic data.
15. Even though there are already many statements, guidelines and codes
dealing with the issue of genetic data, the changing conditions in which
genetic research is being conducted creates a strong case for a universal
international instrument. These changing conditions include the increasing
involvement of the private sector, the rapid increase in the number of human
genetic databases, the controversial nature of some proposed uses and the
international character of genetic research, this latter factor introducing the
possibility of variation in the standards applied to research and variation in
the regulatory frameworks. In particular, researchers may seek raw genetic
data from people living in countries where there may not be an adequate
level of protection. The need to recognize the rights of vulnerable
populations in respect of genetic data is crucial, and the authorities in such
countries may be expected to welcome international guidance on
appropriate standards of protection. By virtue of its acknowledged status as
guardian of cultural and intellectual patrimonies, UNESCO is better placed
to provide this guidance than most other bodies.
III. Definition of Human Genetic Data
16. The human body is made up of a large number of cells with similar
characteristics. Each human cell contains a nucleus that contains 23 pairs of
chromosomes. One member of each pair of chromosomes in an individual is
derived from the father and the other from the mother. Each chromosome
contains DNA which carries genetic information in an encoded form. All the
DNA contained in all the chromosomes is called the genome. Biological
samples from which DNA is commonly extracted are blood, tissue and cells
from the inside of the mouth or other body fluids such as semen. Blood
samples may include cord blood which is representative of the foetus.
17. A gene is a segment of DNA that contains information for the
synthesis of RNA molecules required for synthesis of proteins within the
body. The human genome is believed to contain of the order of 30,000
genes, and a complete set of genes is present in every cell of the human
body. Genes are discontinuous and include non-coding regions as well as
regions coding for proteins. Presently the functions, if any, of most non-
coding regions are not known.
26
18. Genetic information is encoded in the DNA as a sequence of
nucleotides. This information is passed on from one generation to the
next, virtually unmodified. The sequence of nucleotides in the DNA may
be determined and stored, for example in a computerized DNA databank.
19. Thus, genetic material and genetic information (the sequence of
nucleotides in the DNA) can be separated, and the information can be
stored separately from the biological material from which it was
determined and thus become available for subsequent research. As such
genetic information acquires a status of its own.
20. DNA sequences between two individuals are largely similar, but
contain a sufficient number of differences to be able to distinguish them
based on their DNA sequences. Often, certain characteristics of the DNA
sequences are exploited for easier DNA profiling of individuals. One of these
characteristics is that segments, typically non-coding segments, of the DNA
contain short sequences of nucleotides that are randomly repeated a large
number of times. Often there is variation in the number of repeats across
individuals. The number of repeats at many such highly-variable DNA
segments provides the DNA profile of an individual. Such DNA profiling data
are commonly used in crime detection and forensic medicine and in some
countries there are now large databases of DNA profiles.
21. Information about the number and state of the chromosomes, called
a karyotope, is also relevant to a person’s genetic identity and may be
determined from a laboratory examination of a blood sample.
Abnormalities in chromosome structure are generally not conserved
through generations. The written description of the karyotope thus
constitutes another form of human genetic data. The slides used in the
laboratory for karyotope examination may also be stored and therefore
also need to be considered.
22. The term human genetic data thus includes karyotope data, DNA
sequences and DNA sequence variants (called alleles) such as mutations,
single nucleotide polymorphisms, short tandem repeat polymorphisms and
insertion/deletion polymorphisms. While this Report is focused on the issues
of collection, processing, storage and use of human genetic data, it will also
include issues concerning the collection, processing, storage and use of the
biological samples from which the human genetic data are derived.
23. In a broader sense, the term human genetic data, when applied to
an individual, may be taken to include any information about the heredity
of that person. This information may be derived in a number of ways.
27
(a) The taking of a family history through interviews with family
members and the analysis of medical records supplied by
family members.
The information obtained in this way includes written records of
names, dates of birth, addresses, history-based descriptions of
phenotypes, information about medical conditions and
biological inter-relationships among the family members (family
pedigrees).
In this process, information collected about the presence of
genetic conditions in other members of a person’s family
enables conclusions to be reached about that person’s
genotype. These conclusions, of course, depend on our
knowledge of patterns of inheritance and may be confined to
statements of possibility. Nonetheless, the statement that a
person has a fifty per cent chance of having a particular genetic
condition because one of his parents had that condition
amounts to genetic information. (Such statements, of course,
were possible even before the existence of genes as such was
known. At the time that Mendel developed his system, the
existence of DNA was undiscovered. All that was known was
that there were rules of heredity; the precise operation of the
process was not discovered until the twentieth century.)
(b) Direct observation of a person’s phenotype.
Such information would be a written record by the observer of
the appearance and characteristics of the person. This may
include the results of biochemical analyses of specific
substances in the blood, urine or other body fluids/tissues.
On the basis of this observation it may be possible to reach a
conclusion concerning that person’s genotype or the state of
the person’s chromosomes.
(c) A laboratory-based gene products analysis.
This type of analysis determine the presence or absence of
particular proteins. From this information conclusions can be
drawn about the state of the genes that coded for those
proteins.
For example, the absence of the protein dystrophin indicates
Duchenne’s muscular dystrophy and hence indicates an
28
abnormality in the gene coding for this protein. The written
record of these proteins thus constitutes another type of
genetic information.
24. A decision is therefore required as to whether principles pertaining to
human genetic data should include all the above forms of genetic
information or whether they should be restricted to direct information
about the DNA and the chromosomes. The arguments in favour of each
position are:
(a) In favour of including all forms of genetic information.
Consistency requires that any regime be applied equally to all
forms of genetic information, however it is obtained. There is no
reason in principle why information about the DNA and the
chromosomes should be treated as more significant than other
information which is effectively information about DNA,
although obtained by a method other than DNA sequencing or
DNA profiles.
Exclusion of family history information from the scope of any
recommendations could mean that protection of a person from
breach of confidentiality becomes dependent on the method by
which the information was obtained. As a result, an
assessment of genetic risk derived from a family history could
be used in a discriminatory way in the context of employment or
insurance.
(b) Against including all forms of genetic information.
DNA testing is capable of disclosing a much greater range of
information about an individual than indirect methods.
Emerging chip technology will enable tests to be done for tens
of thousands of sequences at a time, thus enabling information
to be elicited relating to many conditions. DNA sequencing is
therefore much more powerful and potentially informative than
phenotypical observation or family history-taking.
The public perception also is that the results of DNA tests are
matters of greater sensitivity than the selective, focused
information obtained from, say, family history-taking. A person’s
genotype is seen as revealing something about his or her
uniqueness as an individual. It therefore falls into a category of
particularly personal information, that needs special protection.
29
25. For the purposes of this Report, we recommend that the broader rather
than the narrower definition of human genetic data be used i.e. the term
‘human genetic data’ will include all forms of genetic information,
irrespective of whether they were obtained directly or indirectly. This is
consistent with the position taken in the Report of the IBC on Confidentiality
and Genetic Data.
IV. General Issues Concerning Human Genetic Data
26. Human genetic data differs from general medical data about an
individual in that they are of direct significance for the health of biological
relatives, both living and unborn. Living relatives may, or may not, be
aware that this information is being generated. Such family members may
have a legitimate interest in the genetic material of their relative or in the
information generated from testing. In addition, partners and spouses of
family members may also have an interest because of concerns about the
health of yet unborn children.
27. Exercise of the right not to know the results of genetic testing also
needs consideration. Because families share genes, it can sometimes be
very difficult to protect the right of one person to know about his or her
genetic future while simultaneously protecting the right of a related person
not to know.
28. The ownership of human genetic data requires further consideration.
Are human genetic data a national resource or are they to be regarded as
the property of the individual, group or community and a resource with
economic potential?
V. Processing and Storage
29. The processing and storage of the human samples and genetic
information derived from them can be summarized as follows:
(a) The samples are labelled on collection and both the sample and
the data derived are identified as belonging to a particular person.
The sample may be destroyed or kept as agreed with the donor.
Disposal should be by a method that is culturally appropriate.
(b) The samples are not labelled on collection.
(c) The samples are coded on collection and the identity of the
person to whom the code relates is stored separately from the
samples and derived data. Such samples are referred to as de-
identified. Only specified persons have access to the identifying
30
code. Samples are destroyed in a culturally appropriate manner
or kept as agreed with the donor.
(d) Samples are collected anonymously. There is no linkage
between the donor and the genetic data.
Note that where human genetic data have been de-identified or
anonymized, the opportunity for donors to receive the results of the testing
has been lost.
Note also that sometimes even when the data have been de-
identified or anonymized, the group identity of the person is retained along
with the data. This situation needs also to be addressed as the group
identity may be used for purposes of group discrimination/stigmatisation.
30. Access to genetic information in computerized databases requires
special care to ensure that unauthorized persons do not gain access to it.
This would include password protection and procedures for the protection
of information during the upgrade and replacement of computers.
31. Access to genetic data after the death of the person from whom it
was obtained presents special issues. Who, if anyone, should have
access to these data? Such data may be of significance in the diagnosis
and genetic counselling of children, grandchildren and other close
relatives. A related issue which needs to be addressed concerns the
collection of genetic data after the death of a person, for example from
exhumed material.
32. Storage of and access to data obtained during prenatal screening
also need clarification.
33. Where human genetic data are derived from direct analysis of the
DNA, the obtaining of a sample of cells from the person concerned will be
required. The ways in which blood, body fluid or tissue are obtained and
the conditions in which they are stored or destroyed raise important
ethical issues. Any statement of principles will therefore need to deal with
the proper handling of the sample itself, as well as the handling of the
human genetic data obtained from the sample.
34. Serious issues arise in relation to genetic research performed on
archived collections of human samples, for example tissue samples which
have been obtained at some time in the past for a different purpose.
These historical collections can be important resources for research into
human disease, as has been shown by the use in influenza research of
samples of lung tissue taken from victims of the influenza epidemics of
the early twentieth century. More recent collections raise issues of the
rights for donors of tissue who may still be alive.
31
35. The IBC recommends that an instrument on genetic data should
include provisions relating to the handling and storage of the human
samples from which the data are obtained. This should include provisions
dealing with both samples given for the purpose of genetic analysis and
tissue originally obtained for other purposes.
VI. Purposes for Collection
36. Genetic information is obtained for a variety of purposes that are not
necessarily mutually exclusive. These may be classified as medical,
social and research and development as follows:
(a) Medical
ƒ Diagnostic testing
This refers to the identification of the cause of a disease.
ƒ Pre-symptomatic testing
This refers to the identification of healthy individuals who
may have inherited a gene for a late-onset disease and if
so will develop the disorder if they live long enough (e.g.
Huntington disease).
ƒ Predictive/susceptibility testing
This refers to the identification of healthy individuals who
may have inherited a genetic predisposition that puts
them at increased risk of developing a multifactorial
disease, such as coronary heart disease or hypertension
or monogenic diseases with incomplete penetrance such
as breast cancer due to mutations in BRCA1 or BRCA2
genes but who, even so, may never develop the disease
in question.
ƒ Carrier testing
This refers to the identification of either healthy persons
who may have inherited a mutated gene for a particular
disease but which is not expressed in those persons or
healthy persons who are carriers of balanced
chromosomal rearrangements such as translocations and
whose offspring are at risk of being affected.
32
ƒ Prenatal testing
This refers to the genetic testing of developing foetuses
that
can be used to diagnose diseases or the likelihood an
individual will develop a disease. It should be noted that
this information will form part of the health record of the
person to whom it pertains and that this raises issues as
to the how, and at what age, the information will be
communicated.
(b) Social
• Identification, for both forensic purposes and for the
establishment of the relatedness of individuals, including
paternity.
• Study of physical and psychological abilities.
• Identification of health risks for insurers and employers.
(c) Research and Development
ƒ Determination of the sequence of the human genome;
ƒ Population studies to establish, for example, genetic
relations between different ethnic groups or the
distribution of a particular gene;
ƒ Determination of the genetic basis of a disease;
ƒ Determination of genetic susceptibility/resistance to a
disease;
ƒ Localisation of disease genes on chromosomes;
ƒ Elucidation of the interaction of genes and environmental
factors;
ƒ Development of new drugs;
ƒ Study of individual reaction to drugs.
37. The rationales for health-related testing and screening may be
summarized as follows
(2)
:
(a) Screen and identify
- to treat,
- to counsel or educate,
2. Jones D.G., Selected Legal Issues in Genetic Testing: Guidance from
Human Rights. For the Health Canada Advisory Committee on Genetic Testing for
Late Onset Diseases, 2000.
33
- to isolate or segregate,
- to monitor or trace,
- to warn or protect third parties,
- to exclude, disqualify, transfer, discharge.
(b) Screen and not identify
- to count, survey or track diseases,
- to study or research.
VII. Providers of Human Genetic Data
38. Persons providing samples for genetic testing may be grouped as
follows (included also is an indication of the needs of each group).
(a) Randomly selected individuals:
(i) Information provided for a single purpose,
(ii) Information provided for multiple use.
(b) Individuals selected on basis of disease incidence /
susceptibility / appearance.
(c) Persons recruited as part of a group defined according to:
(i) Ethnic origins,
(ii) Geographic origins,
(iii) Behavioural attributes,
(iv) Chronological age.
These groups would, in some countries, include persons taken
into custody by the police.
VIII. Principles
39. The substantive principles which will inform the standards to be
adopted with respect to the collection, processing, storage and use of
human genetic data may be deduced from current human rights
standards. These principles include:
34
(a) Respect for Human Dignity
This refers to the intrinsic worth and identity of human beings. It is
included in the Charter of the United Nations, in the Universal
Declaration of Human Rights and in Articles 1 and 2 of the Universal
Declaration on the Human Genome and Human Rights. Genetic
testing raises the concern that persons may be viewed as no more
than their genetic characteristics. In addition Article 4 of the
Universal Declaration on the Human Genome and Human Rights
states that ‘the human genome in its natural state shall not give rise
to financial gains’.
(b) Autonomy and Freedom
Genetic testing must not be undertaken without free and informed
consent and wide-spread discussion for circumstances authorizing
non-consensual genetic testing. The Universal Declaration on the
Human Genome and Human Rights recognizes this in Article 5 and
Article 9.
(c) Privacy and Confidentiality
This principle is recognized in Articles 7 and 9 of the Universal
Declaration on the Human Genome and Human Rights. The
principle is not an absolute one and the justification for the
exceptions need to be widely-debated (see in this regard the Report
of the IBC on Confidentiality and Genetic Data).
(d) Equality and Non-Discrimination
Respect for human dignity means that individuals should not be
burdened, mistreated or oppressed due to prejudicial attitudes about
such attributes as biological status, race, religion, gender, age,
disability. The application of this principle to genetic testing raises
important questions concerning the grounds on which an individual
is protected against genetic discrimination. It is recognized in
Articles 2 and 6 of the Universal Declaration on the Human Genome
and Human Rights.
(e) Justice and Solidarity
The multiple aspects of justice – ‘distributive’, ‘procedural’ and
‘reparative’ – have direct application to genetic testing. The concept
of distributive justice is relevant to how society allocates the risks,
benefits and burdens of genetic testing. These range from access to
35
genetic testing services, to unduly burdening populations, to the
allocation of genetic testing benefits and burdens between
generations and between countries. It is particularly important that
research efforts should promote health universally and so include
developing countries. Article 17 of the Universal Declaration on the
Human Genome and Human Rights draws attention to the need for
States to respect and promote the practice of solidarity. The concept
of reparative justice refers to the right to just reparations of those
aggrieved or otherwise wronged by genetic testing initiatives. This is
recognized in Article 8 of the Declaration. Procedural justice refers in
part to fair process and procedure for dealing with alleged legal
wrongs from genetic testing. It also raises questions about
meaningful, inclusive and fair processes of decision-making on
genetic testing at the individual, institutional and societal level.
40. Substantive principles alone are not sufficient to determine policy
outcomes especially when there are conflicts between principles. An
example of this would be conflicts between the principle of solidarity and
the principle of confidentiality in relation to genetic information which may
be of benefit to other family members. There may be cases in which
breaching the right to confidentiality of an individual may appear to be
justified in order to avert a serious risk to the life or health of another.
Clear processes and fair procedures are essential for addressing,
deliberating and mediating such conflicts. From the above discussion, a
number of process values can be identified. These include:
(a) Transparency of process and procedures,
(b) Fairness of process and procedures,
(c) Meaningful and inclusive involvement of society in decision-
making,
(d) Education of society,
(e) Quality control (of laboratories undertaking genetic testing)
Article 13 of the Universal Declaration on the Human Genome
and Human Rights indicates the responsibilities of researchers
in carrying out their research. These include meticulousness,
caution, intellectual honesty and integrity,
(f) Monitoring and evaluation of processes
As stated in Article 13, it is important that public and private
science policy-makers ensure that there are mechanisms for
ensuring that proper processes are being followed.
36
IX Application of the Principles
41.Acceptability of purpose for which human genetic data is
collected
Guideline 1
(a) Human genetic data may only be collected, processed, and stored
and processed for the following purposes:
- the provision of health care;
- research intended to further understanding of the structure and
function of the human genome;
- the identification, in accordance with the provisions of national
law, of those suspected of involvement in crime;
- the identification in the context of military service or for the
purpose of identifying the victims of accidents or disasters, or
for any other identification purpose authorized by national law
and which is in conformity with the principles of international
human rights law.
(b) Human genetic data may not be collected, stored or communicated
for any purpose which is inconsistent with the principles set out in the
Universal Declaration on the Human Genome and Human Rights.
C
OMMENTARY
This initial principle stipulates that human genetic databases should only
be established and operated for beneficial purposes. Thus, it would not be
acceptable to collect or use genetic data for purposes of pursuing a
programme of discrimination against a particular section of the population.
Similarly, the collection of human genetic data in order to pursue a
eugenic programme would be impermissible under this provision.
Research into behavioural genetics might fall under the health grounds
stated above. If its focus were criminological or intended to measure and
enhance intellectual ability or competence in the performance of tasks,
then this might be considered to be research into the workings of the
human genome. The acceptability of such work in any particular case
would then depend on whether it was linked with an objective prohibited
by the Universal Declaration on the Human Genome and Human Rights.
The provisions on identification raise issues of some complexity and
sensitivity. Many countries now have forensic DNA databases, the aim of
which is to link suspects with DNA samples obtained at the scene of a
37
crime. The effectiveness of these databases as a means of apprehending
offenders is well-established, but concerns have been expressed over the
civil liberties implications of these measures. For this reason, a number of
countries limit the circumstances in which samples for DNA testing may
be taken or retained on forensic databases. The wording of the principle
above recognizes that national laws will differ on this issue.
The collection of human genetic data about individuals for insurance or
employment purposes is controversial and is the subject of legislative
restriction in some countries. The principle stated above would preclude
the testing of an individual specifically for these purposes, but would not
preclude the communication of information about a genetic test which has
been taken in a medical context. This issue will require further
consideration.
The collection of human genetic data for the provision of health care to an
unborn raises issues that also need to be addressed.
42.Transparency of purpose
Guideline 2
The purposes for which human genetic data are collected should be made
clear to donors of data-producing samples by those responsible for the
collection.
C
OMMENTARY
The aim of this principle is to prevent the building up of databases on the
strength of false representations as to purpose or through the concealing
of intentions.
43.Role of education
Guideline 3
Those promoting the collection of human genetic data should make every
effort to inform the public of the purposes to which their collections may
be put and to engage the public in debate over controversial issues.
Health authorities, and those communicating with the public on issues of
science and health, should endeavour to ensure an adequate level of
public understanding of the benefits of the use of human genetic data in
the context of health provision and health research before introducing new
procedures.
38
C
OMMENTARY
A reasonable level of public understanding of human genetics is important if
there is to be better understanding of the objectives of genetic research.
This is particularly important in communities in which the public will be
invited to participate in long-term research programmes into common
illnesses. These research programmes, which could offer substantial
benefits for our understanding of disease, require the participation of large
numbers of people. An atmosphere of distrust of genetics could seriously
affect these research projects. Specific mention is made of the
responsibilities of communicators (journalists and others). The irresponsible
reporting of science may threaten legitimate research; the responsibilities of
journalists to report fairly and accurately need to be stressed.
44.Public consultation and involvement
Guideline 4
The establishment of any collection of human genetic data should be
preceded by public consultation at the appropriate level. The views of
interested organisations and individuals should be taken into account in
the formulation of policies regarding administration and control of the
database.
C
OMMENTARY
There is widespread acceptance of the need for public consultation in
science policy, even if it is difficult to ensure that consultation is with the
public in the wider sense rather than just with a narrow range of interested
opinion If science is to enjoy the confidence of the public and if abuses
are to be prevented, science policy must be open to public scrutiny and
take into account the views of those whose lives it will affect. The
prolonged and major disputes over genetically-modified crops provides an
example of how secretive or autocratic decisions as to what is best for
people may be resented and may not accord with people’s own vision of
what is in their best interests. To avoid these misunderstandings, there
should be consultation with a wide range of interests in civil society.
Guideline 5
All matters pertaining to the collection of human genetic data and any
research which may be carried out on it should be subjected to
independent ethical assessment of the same nature as is applied to any
other biomedical research involving the use of human research subjects.
39
C
OMMENTARY
The provision relating to independent ethical assessment is an important
one. Many countries now have research ethics committees, at national
and local level, the function of which is to scrutinize research projects
involving the use of human subjects. The collection of biological samples
for DNA analysis is a form of research involving human subjects, and
should therefore be subject to similar ethical controls. It should be
emphasized that this scrutiny should not cease after the collection of data
has been made. The subsequent use of the data and also of the samples
themselves needs to be subject to ethical scrutiny as does the storage of
and access to both the samples and the data. Membership of ethics
committees should be diverse, and include members of the
community(ies) providing the samples.
45.Cultural issues
Guideline 6
(a) The human tissue from which genetic data are obtained, and genetic
data itself, may be the subject of moral, social or religious beliefs. Those
who collect human genetic data from communities holding such beliefs
must give these convictions all due respect, endeavouring to do nothing to
or with the genetic data, or the samples from which the data are derived,
that would give offence to those from whom the samples and the data
have been obtained.
(b) National authorities promoting the collection of human genetic data
from their populations should take into account the sensitivities of social,
religious or ethnic groups within the population at large. Researchers
must also observe the laws of the country in which their studies are
conducted, as well as implementing the standards under which they work
in their own country.
C
OMMENTARY
This principle recognizes that there is considerable cultural sensitivity
surrounding human tissue and genetic data. This matter has been
substantially debated in the context of what has been called ‘gene
prospecting’, the practice of collecting genetic data from isolated or
indigenous populations. The genomes of such populations have the
attraction to researchers of being relatively homogenous, which means that
it may be possible to make a link between a particular genetic mutation and
a phenotypical feature commonly observed within the community in question
(such as immunity or particular susceptibility to an illness).
40
Community attitudes to these issues vary. Some governments have
encouraged the collection of human genetic data in order to make this
available to overseas researchers for financial gain. Consent is crucial
here, and will be dealt with separately below, but the issue of respect for
cultural and other sensitivities is important and it is this issue that the
principle seeks to address.
The Report of the IBC on Bioethics and Human Population Genetic
Research
(3)
(1995) had dealt with these issues. Particular attention has
also been paid to this question by the ELSI Committee of the HUGO
project, which has issued a statement setting out the responsibilities of
those obtaining human genetic data from other communities.
46.Counselling
Guideline 7
(a) The genetic testing of an individual for diagnostic purposes should