NATIONAL SCIENCE FOUNDATION
TOKYO REGIONAL OFFICE

July 2, 2001

The National Science Foundation's Tokyo Regional Office periodically reports on developments in Japan that are related to the Foundation's mission. It also provides occasional reports on developments in other East Asian countries.

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FUNDAMENTAL PRINCIPLES OF RESEARCH ON THE HUMAN GENOME

The following report, prepared by the Human Genome Research Subcommittee of the Bioethics Committee of the Government of Japan's Council for Science and Technology Policy, was released by the Council on June 14, 2001. 

Preface 

Stunning recent developments in the life sciences, and the progress in the technology that has underpinned these developments, are deepening our scientific understanding of what it is that constitutes human life.  At the same time these developments makes great contributions to the improvement of our life, in increasing levels of health and enhancing the prevention, diagnosis and treatment of disease.  Humankind has thus reaping tremendous benefit from this steady march forward.  However, through these advancements, it is becoming possible for humans to place their mark, one could even say interfere, in the inner workings of all stages of life from birth to death.  The result has been the emergence of various ethical, legal and social issues, leading to a renewed awareness of the human dignity and.  We cannot focus exclusively on what benefits may be gained through the developments of life sciences in areas of human health and the fight against disease, but must also look at the ethical values and principles involved and carefully evaluate whether problems may arise.  Herein lies the reason why a heightened awareness of bioethics as an important aspect of human society has begun to take center stage in recent periods. 

Progress in research into the human genome, often referred to as the blueprint of human life, is deeply approaching the origin of the human life and thus opening up the possibility of a total transformation both in how we view what it is that makes us human and in how we view life itself It also has the potential to shake the entire system of values that we hold as a society.  This scenario makes it imperative that we consider what limits should be set, on how far human genome research should be permitted to go, and of what nature this research should be.  The human genome research is at the beginning of unlocking the entire genetic code of human being.  From now on, our objective is to determine those genetic factors involved in specific traits and the aetiology of disease based on research into the differences between individual genomes.  This research leads to further developments of biomedicine, from which a new approach to medical care will emerge whereby treatment would be tailored specifically to each individual.  However, as this research requires the provision of numerous samples from many participants, whose genetic information will be revealed in the results obtained during the course of this research, there is concern that far more and even bigger problems will arise in this research in the future.  It is for this reason that an urgent establishment of fundamental ethical norms, based on bioethical considerations, is needed for human genome research. 

The Bioethics Committee of the Council for Science and Technology, since its inception of considered the questions of the application of cloning technology into humans and of the research on human embryonic stem cells, and have addressed the basic ideas on each of them.  Then in light of the situation described above, A Sub-Committee on the Human Genome Research was newly created in December 1999 to examine the approach to be taken in the human genome research, and, following the discussion therein, reached to proclaim hereby the “Fundamental Principles of Research on the Human Genome.”  These Fundamental Principles define the ethical framework that should be respected by those who are engaged in human genome research, such as scientists and physicians. They also presents the basic conception to be understood both by those individuals who are providing research samples and by the society as a whole.  The Fundamental Principles, therefore serve as “the Constitution” in human genome research, and relevant guidelines must be formulated based on these Fundamental Principles to provide a more detailed rules that should be adhered to in the course of research.  Furthermore, the Fundamental Principles should be revised as the needs arise, following the future development of genome research and the advancement of the societal understanding and awareness of bioethical considerations, . Furthermore, various issues have to be dealt with in the area of practical applications stemming from human genome research, such as in medical diagnosis, prevention and treatment, so that appropriate guidelines must also be set down to cover these issues.  We hope that the ideas contained in these Fundamental Principles will be reflected in these future guidelines. 

The bioethical principles are, needless to say, founded on the premise of the basic understanding of the life sciences and of the broad reflections on the life of human being.  However, development in the life sciences is moving at an incredibly rapid pace, and we must face and solve a wide range of problems on even a daily basis.  Until now Japan has not been fully aware of bioethical understanding and lacking adequate framework for bioethical debate.  Therefore, it is important that, on one hand, measures be put into place to create an understanding in society of the issues that are arising, and on the other hand, to build a foundation within the education system covering the life sciences and bioethics from an early juncture, and, at the same token, to keep promoting debates and efforts directed towards achieving a social consensus on these issues.  It is our fervent hope that the proclamation of these Fundamental Principles will further enhance the awareness of bioethical consideration and to grow up the firm foundation for the research on the life sciences in which all and every researchers and physicians fully respect the human dignity and human rights, in order to build up the society where progress is in harmony balance with welfare and happiness. 

June 14th, 2000
Bioethics Committee 

Table of Contents

Basic Ideas              x 

Chapter 1                        The human genome, and research on the human genome
Chapter 2                        Rights of participants
            Section 1                        Informed consent
          Section 2                        Genetic information of participants
          Section 3                        Other rights and interests
Chapter 3                        Fundamental requisites of research on the human genome
Chapter 4                        Relationship with society 

Supplementary provision 

Members of Human Genome Research Subcommittee
Members of Bioethics Committee

Basic Ideas

1.              Science, as one of the intellectual activities of humanity that aims at the pursuit of truth, underlies the future development of human society.  Freedom of research, which is the pillar of science, is a part of freedom of thought, which, in turn, is a core component of fundamental human rights.  Science, however, is not an autonomous entity that is independent of society but one that is confined within the sphere of human society.  Thus, scientific research should conform to the respect for human dignity, should interact with various social factors, and should fully understand that there might be oppositions or conflicts between scientific interests and other social interests. 

2.           Life science aims at the elucidation of phenomena concerned with the life of living organisms, and especially at understanding humanity from a biological point of view.  The applications of the results of research in life science, including medical treatments and agriculture, have made a significant contribution to the progress of the health and welfare of humanity.  The application of findings derived from research on the human genome in particular shed light on the possibility of the prevention and treatment of diseases that have defied traditional medical approaches.  However, it is a concern that progress in life science may precipitate various problems at the interface with society.  We, humanity, have a history in which we have seriously neglected considerations of human dignity and human rights in the name of research.  After the Second World War, these acts of violation were reflected on with deep regret, and so that such past errors are not repeated, all nations and related international organizations have been constantly making various efforts from the viewpoint of bioethics, beginning with the pronouncement of the Nuremberg Code.  Medical practitioners and researchers, too, alerted by the Declaration of Helsinki and other pronouncements, have come to realize that human dignity and human fights should be respected in their research.  In relation to research on the human genome, which is the focus of the present Fundamental Principles, the "Universal Declaration on the Human Genome and Human Rights" was adopted in 1997 at the General Conference of UNESCO (the United Nations Educational, Scientific and Cultural Organization).  This Declaration was endorsed by the General Assembly of the United Nations and accepted in various countries as the first pronouncement on universal ethical principles concerning research on the human genome. 

3.              Research on the human genome made rapid progress as a result of the Human Genome Project, which began in earnest in 1990.  This research aims to analyze the structures and functions of the human genome, investigate the biological functions of humans, and understand the mechanisms underlying human life. Based on this information, human genome research further aims to contribute to the protection of human life and health and to the prevention and treatment of disease.  Great strides have been made in research on genetic polymorphism in particular, due to the accelerated decoding of DNA sequences.  Research on the genetic information collected from individuals enables the aetiology of diseases to be determined, novel strategies for the prevention, diagnosis, and treatment of diseases to be developed, and also for new medicines to be developed.  Some of the findings generated by this research are now being put to practical use. 

4.              Research on the human genome and its outcomes, however, may give rise to serious ethical, legal and social issues because, on the one hand, they may lead to the manipulation of “life”, while on the other hand, they may bring about the risk of violating the dignity and human rights of an individual on account of his/her personal genetic characteristics.  Thus, it is imperative that all these issues are guarded against and that the full understanding of the public is gained with regard to research activities on the human genome and the application of the outcomes of such activities. 

5.           The “Fundamental Principles” were established in order that research on the human genome might be conducted in an appropriate manner without violating human dignity or human rights.  The principles are mainly aimed at researchers and medical practitioners concerned with the human genome.  These principles also provide the basis for the understanding of research on the human genome that the public, and especially those persons providing research samples, and their blood relatives and families, are expected to have.  It should be noted that research on the human genome is intricately related to the diagnosis and treatment of diseases based on the genetic information it provides.  National guidelines on genetic diagnosis and gene therapy need to be established separately in addition to the “Fundamental Principles of Research on the Human Genome”. 

Chapter I                        The human genome, and research on the human genome 

Principle 1                        The significance of the human genome 

1.         The human genome is the heritage of humanity.

2.         The human genome is the blueprint of human life.  It provides all members of humanity with a biological basis as a human being and it also underlies the uniqueness and diversity of each human being.

3.         The existence of a human being is not determined only by his/her genome.

4.            Conveying the fundamental information of human life from parents to children, from children to grandchildren, et cetera, the human genome builds the fundamental structures and functions of an individual as a human being.  At the same time, however, the human genome is acted on by various influences in the natural and social environment.

Principle 2 Diversity of the human genome and the dignity and human rights of individuals

The human genome differs from one individual to another.  The diversity of genetic characteristics signifies the originality and uniqueness of each individual and the plurality of humanity as a whole.  Thus, it is imperative that, regardless of their genetic characteristics, all individuals or groups of individuals are respected for their dignity and human rights, and that they are equal to one another and are not subjected to any form of discrimination. 

Principle 3 Due consideration of ethical, legal, and social issues

It is considered that since research on the human genome and the applications of its outcomes have the potential to significantly change the way in which human beings think about human life and living, it may have an extremely serious impact on society.  Therefore, due consideration should be given to ethical, legal and social issues in research and its applications. 

Principle 4 Participants, and their families and blood relatives

Research on the human genome inevitably requires research samples that are provided by human subjects.  Therefore, this type of research can be conducted only with a high regard for the dignity and human rights of the persons providing research samples (hereafter, “participants”), and their families and blood relatives. 

Chapter 2                        Rights of participants

Section I                        Informed consent

Principle 5                        Basic Conditions

1.         A research sample may be collected from an individual subject for research on the human genome only after the participant has first been given a sufficient explanation of the research, and has then given, of his/her own free will, his/her consent (informed consent),

2.         The consent should be expressed in writing.

3.         An individual who is requested to provide a research sample but does not consent to that request should not be disadvantaged as a result of his/her refusal.

Principle 6 Individuals who do not have the capacity to consent

In the event that research on the human genome is to be conducted using samples from participants including an individual who does not have the capacity to consent, it should be demonstrated in advance that the research in question requires a research sample from that particular individual, and his/her informed consent should be obtained from his/her representative.

Principle 7   Diversity of research

1.         In the procedure for obtaining informed consent, the information and explanation about the research should be presented using the most appropriate method given the objectives and particulars of the research, in view of the fact that research on the human genome, and especially the identification of the genetic information of individuals, is associated with a high risk of ethical, legal and social issues.

2.            In all research projects, the procedures used to obtain informed consent should be clearly described in the research plan and undergo prior review by the Ethics Committee.

Principle 8 Comprehensive consent, and unlinked and unidentified research samples

1.

(a)     If a participant consents to provide a research sample for genome analysis in a particular research project and, at the same time, anticipates and consents to the use of the same sample in other genome analyses or related medical research, then the research sample may be used for the latter "studies aimed at other purposes.

(b)   In this case, sufficient information, which clearly outlines the anticipated objectives of the research at that point in time, should be given to the participant so that S/he can thoroughly understand the significance and consequences of the fact that the sample provided will be used in "studies aimed at other purposes," as defined in the preceding sub-paragraph.

(c)   In the cases described in the preceding two sub-paragraphs, protocols pertaining to the management and protection, including anonymity, of genetic and other personal information of the participant should be explained in detail, and strict confidentiality should be guaranteed.

2.         If it is expected that the sample provided will be handled anonymously, the method of explanation used in the procedure of obtaining informed consent may be appropriately simplified on the condition that it is guaranteed that the sample can not be linked to the donor.

3.         In the cases described in the preceding two paragraphs, the comprehensive consent and the simplified method of explanation can be used only when the source of the research sample to be used, and the actual protocols and method used in the procedure of obtaining informed consent are described in the research plan and when these issues are reviewed in advance by the Ethics Committee concerned.

Principle 9                        Existing samples

1.         Existing samples that were provided prior to the taking effect of the present Fundamental Principles, and for which informed consent was not obtained at the time of provision, may be  used only after consent is obtained.

2.         Existing samples that were provided prior to the taking effect of the present Fundamental Principles, and for which informed consent was obtained at the time of provision, may be used only within the scope of the said consent.

3.            Notwithstanding the preceding two paragraphs, if the research to be undertaken requires the use of an existing sample for which informed consent was not obtained at the time of provision, or if the research to be undertaken is beyond the scope of the consent obtained, the said sample should not be used prior to the proposed research undergoing a review by the Ethics Committee.  The Ethics Committee should determine the conditions for the use of existing samples, including requirements for re-obtaining informed consent, taking the following points into consideration: the anonymity of the sample, the possibility of linking the sample to its donor, the nature of the sample, the research plan and details of the said research, the potential impact on the participant, et cetera, and measures for the protection of personal information.

4.         In the case of existing samples, personal information, including genetic information, should be kept strictly confidential and rigorously protected.  Researchers and research institutions should establish a system for the control of personal information.

5.         Existing samples that are entrusted to organizations specialized for storage, such as human material banks, or that are already on the market, may be dealt with in the same manner as for general samples for scientific research.

Principle  10 Withdrawal of informed consent

1.              The consent for a donated sample to be used for research may be withdrawn providing that the said sample can be linked to its participant.

2.              A participant should not be disadvantaged even if s/he withdraws his/her informed consent.

Section 2                        Genetic information of participants

Principle 11 The protection and control of genetic information and establishment of a control system

1.         The genetic information of participants should be kept in strict confidence and under full protection.

2.            Researchers and research institutions should keep in strict confidence and control the personal information of the participants, identifying the information with which the participant can be linked to the research sample, and the genetic information of the individuals that is obtained as a result of the research.  They should also protect the said information with the utmost caution.  To this end, research institutions should establish and consolidate systems and procedures required to control and protect genetic information along with other personal information and identifying information.

3.         All research institutions should make the importance of protecting the personal information in research on the human genome common knowledge to all researchers and personnel involved in the research.  The significance of personal information and the necessity for its protection should be thoroughly understood by all.

Principle 12 Leakage of personal information

1.   Any research organization and any researcher should take necessary measures in order to prevent the leakage of the personal information.

2.         When a leak of the personal information is discovered, firm steps should be taken, including a disadvantageous demotion, against the very persons who divulged the information, the researchers undertaking the study in question, the managers of the personal information, the supervisor of the research organization and the people who are concerned with the information divulged.

3.         A person who has suffered a leakage of his/her personal information or who has sustained damages from that leakage has legal rights to receive compensation or indemnity.

Principle 13 Right to be informed

A participant has the right to be informed of his/her genetic information resulting from the research.

Principle 14 Right not to be informed

A participant has the right not to be informed of his/her genetic information resulting from the research.  The findings of the research may not be made known to the participant against his/her will.

Principle 15 Disclosure of information to blood relatives

1.         In principle, blood relatives or families of participants may be informed of the genetic information of the participant only when a participant gives his/her own permission.  Personal information pertaining to a participant may not be disclosed to his/her blood relatives or family against his/her will.

2.   Notwithstanding the principle described in the preceding paragraph, if the genetic information obtained from the research leads to the conclusion that a portion of the genetic characteristics of the participant is or may be connected to the aetiology of a disease, this conclusion may be disclosed to his/her blood relatives following authorization by the Ethics Committee, and only if preventive measures or treatment have already been established for the disease in question.

Principle 16 Prohibition of discrimination

The genetic information of a participant forms the basis of his/her diversity as a member of humanity.  The participant should not be subjected to any discrimination on account of any genetic characteristic in his/her genetic information that is obtained from the research.

Section 3                        Other rights and interests

Principle 17 Gratuitousness and related principles

1.              All research samples should be provided gratuitously.

2.              In the event that an outcome obtained as a consequence of a research project becomes the subject of intellectual property rights or other rights, these property rights are not attributed to the participant.

Principle 18 Reparation for damages

A participant has the right to receive compensation or indemnity if s/he incurs damages during the course of any research on the human genome that involves the use of a sample provided by that participant, or in relation to that research.

Principle 19 Social and psychological support

On providing a research sample, or on knowing or being informed of the results of the research, a participant, and his/her blood relatives and family, must have access to all pertinent social and psychological support, including genetic counseling.

Chapter 3 Fundamental requisites of research on the human genome

Principle 20 Human dignity and freedom of research

1.            Research that violates human dignity should not be undertaken

2.            Freedom of scientific research should be respected.

3.            Research on the human genome and its applications should be conducted with full respect for human dignity and human rights.

Principle 21 Requisites of research and establishment of research plans

1.            Research on the human genome should be designed so that useful and beneficial outcomes can be expected in the fields of biology, genetics and medicine.

2.            Research on the human genome should be conducted on the basis of a clear and detailed plan of research.

3.            Information regarding DNA sequence data should be released into the public domain.

Principle 22 Establishment and observance of protocols for conducting research

Research on the human genome is diverse depending on the objectives and subjects of each project.  Adequate research protocols regarding the specific conditions detailed in the research plan should be established while respecting the present Fundamental Principles of Research on the Human Genome. All researchers and personnel involved in the implementation of the research should observe the said protocol.

Principle  23 Ethics Committee

1.         On undertaking any research on the human genome, its research plan should undergo prior review by an independent multidisciplinary and pluralist Ethics Committee.

2.         The Ethics Committee should examine a submitted research plan on the human genome from ethical, legal and social points of view, in addition to its scientific merit, and comprehensively evaluate whether the implementation of the project should be approved or not.

3.         The Ethics Committee should guarantee its transparency in its organization and reviewing deliberations.

Chapter 4 Relationship with society

Principle 24 Understanding and support by society and accountability

1.            Research on the human genome makes a significant contribution to the life and health of humanity and of each individual, and to the welfare of society.

2.         Public support for the advancement of research on the human genome, with recognition of the role played by the said research in society now and in the future, is desirable.  This support should be underpinned by a sound understanding of the present Fundamental Principles of Research on the Human Genome (especially the significance of the human genome outlined in Principles 1 to 3).

3.         All people involved in research on the human genome have a general accountability to society on all aspects of the research in order to improve the understanding and recognition of the public as described above.

Principle  25 Public disclosure of outcomes of the research and return of benefits to society

1.         All beneficial outcomes in the fields of biology, genetics and medicine obtained from research on the human genome should be returned to society.  In principle, they should be disclosed to the public.

2.         All outcomes of research on the human genome should be employed for the development of science, the elimination of human suffering, the prevention and cure of diseases, and the improvement of health.

Principle 26 Appropriate measures

Appropriate measures should be taken so that research on the human genome can be adequately and effectively promoted in accordance with the Fundamental Principles of Research on the Human Genome.  In addition, general, adequate and prompt decisions and countermeasures should be taken regarding the various ethical, legal and social issues that may arise from research on the human genome and its outcomes.

Principle 27 Dissemination of education and provision of information

Bearing in mind that research on the human genome will have a serious impact on life, living and the future of humanity and of each individual, education on the human genome and its research including bioethics, should be widely promoted.  Endeavors should be made to spread information concerning research on the human genome and its applications.

Supplementary provision

These Fundamental Principles of Research on the Human Genome should be revised as appropriate in the light of the future progress of research on the human genome and the understanding of such research by the public and social trends in this regard.

Members of Human Genome Research Subcommittee 

Members of the Bioethics Committee 

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