VALENCIAN FOUNDATION FOR ADVANCED STUDIES

INTERNATIONAL UNIVERSITY MENENDEZ PELAYO

FOUNDATION FOR JUSTICE, VALENCIA

PASTEUR MERIEUX MSD

INTERNATIONAL WORKSHOP ON FRE

AUCKLAND NEW ZEALAND

10 JULY 1997

THE HUMAN GENOME & PRIVACY

The Hon Justice Michael Kirby AC CMG ¹

One of the things I was asked to do was to join the World Health Organisation Global Commission on AIDS. This was extremely interesting and, of course, very important. Another, was to join the work of the United Nations Development Programme in Malawi and in Lesotho. Another was to take part in the International Labour Organisation mission to South Africa just before the change of government. That was the reason that I got the invitation to President Mandela's inauguration on a beautiful blue day in Pretoria.

However, the matters that I want to talk about today relate to two other international Committees which I have joined. One of them is the Ethics Committee of HUGO (the Human Genome Organisation). HUGO and the committee used to be based in Bethesda which is near Washington in the United States. It is now based in London. The second is the International Bioethics Committee of UNESCO. That body is based at UNESCO Headquarters in Paris. These are the two international bodies, HUGO and the International Bioethics Committee, which are striving to develop the international response which should be taken to the greatest cooperative scientific programme in history: the Human Genome Project.

The Human Genome Project was launched in 1988. In fact for about a decade before that there had been cooperation between scientists. It represents the amalgamation of two of the great scientific developments of our time. There is a symbiosis between the two. Biology and genetics, on the one hand, and informatics, on the other. You could not have had the Human Genome Project and genomic sequencing without informatics. Therefore, the two technologies are coming together in a merger which is extremely interesting, important, very promising but, as always in such matters, carrying various risks and presenting various problems.

The International Bioethics Committee of UNESCO is preparing what is called a Preliminary Draft for an International Declaration on the Universal Rights in Relation to the Human Genome . The International Ethics Committee of HUGO works in a rather ill-funded way, on giving advice to the Council of the Human Genome Organisation on various ethical questions which arise from time to time and which are either referred to it by the Council of HUGO or which originate within the Ethics Committee itself. Inevitably, as these things happen, there is an overlap between the two Committees. The Chair of the HUGO Committee, Professor Bartha Knoppers of Montreal is also, like me, a member of the International Bioethics Committee of UNESCO.

I have brought along with me today two documents for those who are really interested in them and prepared to comment on them, I will give them to the Secretariat. They will be available to you. The one is the present draft of the Universal Declaration which is being prepared for UNESCO. We should take this seriously because if you look at international law and the way it develops, often the first step is an international declaration. This is what happened with the Universal Declaration on Human Rights in 1948. That instrument led on, in due course, to the International Covenant on Civil and Political Rights. The Declaration is a broad statement of international principle. The Covenant is a binding treaty which gives rise to legal obligations and to machinery provisions for its enforcement.

So it is in the area of genomic research, genomic issues and bioethical questions concerning the genome. Privacy is one subset of the issues which the Human Genome Project throws up. The Universal Declaration is being prepared. We have to take it seriously because it may, in the way that these things happen, go on in due course to become an international treaty to which countries like our own will subscribe. At that stage it would become part of the binding international law. So it deserves serious attention.

Just a few words about the Human Genome Project itself, because we have to get some understanding of what is happening. It arises out of the human mind. In 1953 the scientists Watson and Crick visualised in their own minds what DNA looked like, the famous double helix: the building blocks of biological existence. On the double helix are the hundred thousand genes or thereabouts of the human species. The human genes are divided. They can be sequenced. Putting it at a very basic level (which is about the only level that I really understand) on the "markers" that are being sequenced are the indications of whether you will be tall or short, whether you will have blue eyes or brown eyes or hazel eyes, whether you will go on to obesity, whether you will develop Alzheimer's disease, whether you will develop the various dramatic, and sometimes fatal, human conditions of illness. All of these biologically determined conditions are in the sequences. The purpose of the Human Genome Project is, in essence, to link scientists on every continent. That is to say basically scientists in Japan, North America, Europe, Australia, New Zealand speaking to each othersharing their research. By linking them the scientists hope to find where the "markers" are for the multitude of diseases and human characteristics such as I have mentioned. The Human Genome Project will therefore be the encyclopaedia of medicine for the next century. It is therefore extremely important that the mapping be done accurately. It is vital that it should be done quickly (the programme is spaced over a period of 20 years). The purpose is, within that 20 years, to try to find all of the markers and to identify them and then to provide for what is to happen to them.

Now, obviously, I am talking about mega-bucks here. If you can identify the marker for, say, baldness, and if you can find where that is, then the next step is to try to programme out (either in the individual affected or in the germline for future generations) the condition of baldness in that family. Similarly with Alzheimer's disease and likewise with the other diseases of a genetic character. Obviously the potential for human good and for the relief of pain and suffering is enormous.

However, a number of problems are presented. Many of them are of a legal character. Many of them are of an ethical character. Amongst the legal and ethical questions will be those presented in the criminal field. Is the concept of free will, which is the foundation of criminal law and the hypothesis upon which mens rea is built, is this something which will withstand a full understanding of the genome? Can we talk honestly about criminal intent in the case of a person with a demonstrated propensity to violence. If we find that some people are simply acting out their genetic messages in terms of violence, is it then just, is it in accordance with the principles of the foundations of our criminal justice system, to simply deal with such persons as if they have wilfully done something.

Another area of the law that is affected is intellectual property. The National Institutes of Health in the United States made many applications for patenting the sequences upon which the "markers" would be found which they suspected might have a large economic potential. The sequences themselves were the subject of applications to the National Patents Office in Washington. That led to a tremendous controversy in the developing world whose leaders attacked this as an attempt by one country to get effective control of something that belonged to all humanity. However, there was also an outcry within the United States itself where scientists pointed out that Watson and Crick had never sought to make a single cent out of their great discovery. Opponents of patenting urged that science should belong to everybody. The genome should not be owned in intellectual property terms by any particular person or group.

Another issue is that of privacy and confidentiality. It is just one of the multitude of subsets of questions which are presented for elucidation by the advance of the Human Genome Organisation. I try to talk to colleagues - judges and lawyers in Australia - about this. After a short time their eyes glaze over because this is all just too complicated. It is just too big. But it is important that we, who are committed to fundamental human rights and specifically to the defence of privacy and human dignity, should consider what are the implications of this the greatest scientific cooperative endeavour in history. It is bigger by far than the Manhattan Project, although in some ways it presents analogies to the way in which science rushed into nuclear weaponry without really fully conceiving, and thinking through, the consequences for humanity. That is what HUGO and the International Bioethics Committee of UNESCO are trying to do: to stand back and look at these developments for the purposes of getting our fundamental principles and approaches right.

Two documents have addressed the particular issues which I have mentioned, or some of them. They are (a) the Draft of the International Universal Declaration and (b) a paper by Professor Knoppers which relates to the privacy and confidentiality issues of the Human Genome Project. I want to give you the substance of what Professor Knoppers says. She starts with an acknowledgment that, in the business of privacy and confidentiality, we begin with the Universal Declaration and the International Covenant. This is not just a vague and nebulous claim. It is something which international law provides for, the defence and protection of individual privacy. That is a foundation that we begin with.

However, the point of Knoppers' paper is to bring to you some of the problems in terms of respecting privacy with the advance of genomic research and with the development of our understanding of the human genome.

The paper puts to one side the mighty questions that will have to be answered. One of these is the following. If you can get the "markers" and identify the characteristics and begin to programme this and that out, do you render the next generation, which is programmed in this way, specially susceptible to disease and infection? One of the defences of humanity against epidemics has been the diversity of the gene pool. If you were able to programme out that diversity would we render humanity much more susceptible? It also leaves aside the question, which is, in a sense, the biggest question. Is the moment in human history through which we are living the moment which will be looked back on, in the end of the next millennium, as the time when the human species conceived the possibility of creating a new species? It is at least conceivable. In science you should always think further ahead. We all know from what we have been told today in the field of informatics and privacy that things we thought were unthinkable twenty years ago have a tendency to come to pass. So it will be with genomic research. If you can create a super pig or a super cow, may it just not be possible that someone somewhere will conceive the notion of a super human being? Are we going to be seen as the generation which began the process of creating a new super human species?

I put these large questions to one side. They are too difficult. But let me come back to the much more homely and comfortable area of privacy. At least there we have some conceptions about the notion and how we can tackle it.

Professor Knoppers divides her representation of this issue into subsets of the subtopics of genomic privacy in the context of genetic privacy. She refers to the background work of the Canadian Privacy Commissioner, the Australian Privacy Commissioner, Mr O'Connor's paper on genetic privacy and also the work of the New Zealand Privacy Commissioner. However, but she then goes on to say that we have to conceptualise this topic under the following headings: the consequences for the data subject, for the patient. The consequences for the family of the subject. The consequences for third parties, specifically employers and insurers. The consequences for researchers. The consequences for the State. They are the six subtopics.

So far as the subject is concerned, the general principle of medical confidentiality goes back to ancient times. The Hippocratic Oath contained a promise on the part of the health worker not to reveal the secrets found in the healthcare relationship. This is absolutely basic. But a new feature which comes along with the developments of the Human Genome Project and of burgeoning genetic information is this. There may be some data which the data subject does not want to know. If you had the possibility of knowing, in your youth, what the basic course of your entire medical history was going to be, you might elect not to know it. You might prefer not to be subjected to the tests that would reveal it. You might insist that this is information that you just do not want to have. So a new component is brought into this area in terms of defending the right of the data subject not to have information given to themselves. Do you agree with that? Is there a right not to know?

In terms of the family , Bartha Knoppers points out that until now, in terms of medical information, the family have just been treated as members of the group called third parties. In other words, a family was undistinguishable from a neighbour or anybody else. You do not give the health information of the individual to the family except of course in the case of dependent persons, such as children or incompetent people. Generally speaking it is not the right of your family to have access to your health data without your full informed consent. But in the case of genetic information a new problem is now presented. Everybody in a genetic relationship with the data subject may have some concern or interest in the information which is not specific and limited to the data subject. That information may be of high relevance to the members of the genetic family. A question is then presented which bears some analogy to problems that have been faced by the law in fields such as psychiatric disturbance or in fields such as HIV/AIDS sero status. What circumstances will authorise the giving of data which is of relevance to a family for genetic purposes, genetic information, although the data subject refuses to allow the data to be given voluntarily? In what circumstances should we over-ride the denial by the data subject of consent so as to permit a family member to have access to such data? A Presidential Commission in the United States laid down four suggested criteria for over-riding the wishes of the data subject. One of the questions which we could discuss is whether they are appropriate conditions. Some of you may know of the Tarisoff case in the United States. It was a case concerning the problem of a psychiatrist presented with information which causes the psychiatrist to be alarmed at the possibility that the patient may commit some very serious crime. When is a psychiatrist in such a position authorised, by the higher calling of society, to give that information to law enforcement officers or to others? Against the possibility that once or twice or on a few occasions that knowledge might help prevent a crime, is it warranted to authorise the provision of that information out to third parties. Is it warranted to do so against suspicion? Some people are super suspicious and others are not. This problem was explored in a case decided in the Supreme Court of California named Tarisoff v The Board of Regents of the University of California . You will also know of the case of AIDS and HIV status. Questions arise in such circumstances where persons, who are patients, refuse to tell a partner or to tell others with whom they are having sexual contact of their HIV status. What circumstances, and with what precautions, would the health professional be authorised to over-ride the will of the data subject and give that information to a third party?

The third category is third parties generally. The issue which has agitated most concern here relates to the provision of information to employers and insurers. I leave aside employers. In terms in insurers, the issue is: should an insurer be entitled to have completely uncontrolled access to your an insured's genetic information? The arguments in favour of dong so are several. We allow insurers to have ordinary, old-fashioned health checks. We allow them to have heart tests and blood tests. Giving them genetic data is merely adding an extra dimension of accuracy. It is unreal to prevent them from having that information, so they say. But the argument against agreeing to this is that insurance has hitherto been worked out on a basis of a common fund pool for the sharing of risks. If insurers can get this information there may be no risks. Insurers would be finding absolutely predictable certainty. Therefore, in order that we as a community continue to share risks, we should reserve the risk and prevent insurers having access to this data which would, in effect, make some people uninsurable. It is a very difficult question to resolve. In some countries, legislation has been enacted to forbid insurers getting access to this information. In others, the provision has been made that insurers cannot seek the information because the concern from the privacy point of view is that the data subject, the insured, or applicant for insurance, is so vulnerable that they will sign away rights and that that will, in effect, allow the insurer to get this information with the insured's consent.

The fourth category include researchers . The debate in this area took me back to some of the debates we have twenty years ago in the OECD Committee on Privacy. Is it enough to say that researchers can have complete access to anonymised information? Or should we, as some countries have done, insist that even in terms of anonymised information, that you have a right, as the data subject, to control that information and to prevent it from going into the test? Is that a legitimate privacy interest? Or would we take the view that once information has been anonymised for statistical purposes the individual has lost an interest in it. It cannot harm the individual. Therefore, it should go forward into research in that form?

The final category is the State . In terms of international principle, the State has all sorts of obligations. But what are the rights of the State? What is the position of the State in terms of a national DNA bank.? Would that be the ultimate universal identifier which would be completely uncopyable, completely unable to be overcome which would provide the ultimate risk to individual privacy? I will never forget a conference which I attended in Paris, early in the days of my work with the OECD Committee. It was so long ago that President Giscard D'Estaing was there. At the conference they were talking about privacy and universal identifiers. Suddenly I saw a bearded man who looked a little like an anarchist, leap to his feet. He started to hammer the table. It was too fast for my understanding of French. So I picked up the earphones and started to listen. He was saying this. Never forget, he was saying, pointing his finger at the President, that before the War, the Netherlands introduced with typical Dutch efficiency an identity card which had a metal strip through it. It was impossible or extremely difficult to imitate, to reproduce. In France they had an ordinary old red card with a little photograph on it. What was the reason why 97% of Netherlands Jews perished and that France was able to save most of its Jews? It was all because France did not have the card with the little metal strip. Sometimes efficiency is not in the best interests of liberty.

In terms of the identification card, a DNA identifier, a national universal DNA identifier would be just unbeatable. Even the Netherlands could not beat it. So these are some of the problems which the UNESCO Committee and the HUGO Committee are working with.

In terms of the Universal Declaration , it is structured in this way. First of all the human genome. It talks in Article 1 of recognising that the human genome is the common heritage of humanity. That is the sort of general statement one tends to find in international instruments. But then it gets down to more nitty-gritty matters. Part B talks of research on the human genome. Part C deals with the rights of the person concerned. Part D deals with conditions for the exercise of scientific activity in relation to the genome. Part E deals with what it calls the "duty if solidarity". Part F with the promotion of the principles in the Declaration . Part G with implementation of the Declaration .

It is likely that the Universal Declaration will go to the General Conference of UNESCO later this year. So there it is. We have countless bodies which have already ventured on this area. We have international bodies which are venturing on the area. It is a matter of the greatest of importance of which privacy and confidentiality is just one little aspect. At the heart of the Human Genome Project is nothing less than the future of our species. Some people are writing of this topic as the human rights of future generations. It is a matter which, on the cusp of the new millennium, is worthy of the attention of all people who are concerned about the rule of law, human rights and the essential questions of morality. That is why I came over to New Zealand to talk about it with you and I will now be happy to answer if I can your questions. Are there any questions?

QUESTIONS

Question: I am interested in the role that you play on the committees and so forth that you have been talking about. There are a number of issues that are raised in terms of the area that we are talking about. For example I think it is possible to identify certain behaviour traits or whatever by way of genetic marker, you might be able to select for them in the future and breed out haemophiliacs. Or there are a lot of other issues around for example sexuality and certain kinds of behaviour. We talked about criminal behaviour. What role do you, as a law maker and a jurist, play in deciding the way those issues are resolved on those Committees?

Answer : First of all, I am not a law maker in the parliamentary sense, though in accordance with the tradition of the common law I am a judge and therefore have some part in the development of the law: at the margins, in a minor key. In terms of the issues which I am dealing with both in the HUGO Committee and the UNESCO Committee, I am simply there in a personal capacity. I am taking part with a group of othersmostly lawyersin providing advice to those bodies in the development of the principles which they will recommend to HUGO or through UNESCO to the members of the United Nations. Obviously it is the endeavour of these bodies which, in the case of the HUGO Committee comprises about 15 people and in the case of the UNESCO Committee about 50, to reflect the fundamental views and interests of humanity so far as we can on these topics. Of course, in both of the Committees an endeavour has been made to bridge cultures and to have a mix of people . We come from different parts of the world. In the UNESCO Committee, in particular, we have people from the Islamic tradition, from the Buddist tradition as well as people from the Hindu tradition and from a Christian background. But there are also secular humanists who are trying to bring to bear the points of view that they want to find expressed in the documents which will ultimately emerge to guide the future development of the Human Genome Project.

One conference which I attended on this topic was held in Bilbao, Spain. There were four Nobel Laureates present. They had each received the Nobel Prize either for medicine or for a branch of science. They were at the cutting edge of biological technology and science. At the end of the conference they joined together to make a joint recommendation to the conference in a very strongly worded Joint Statement. It suggested that, given the current knowledge about the germline, there should be a moratorium on germline genomic therapy. In other words, that in our current state of knowledge we should confine ourselves in any adjustments to the genome to the patient affected and should not affect the patient's progeny. This was explained as based upon the fact that we would not know, at this stage, what would happen in terms of future generations. What we might let loose, in terms of the future of the species? The four scientists basically made two points. First, that, in history, diversity of the gene pool had been absolutely vital to the defence of humanity against pestilence and against epidemics. In our search for the perfect human being we should recognise the great utility of gene diversity. Secondly, they made the point that we do not, at this stage, have sufficient scientific knowledge about what would happen in future generations if we started to manipulate the human germline. I have to say to you that, at the moment, these are merely pious statements at international conferences. In terms of an effective law, to control germline developments, it just is not there. Certainly, it is not there at the international level.

When I was in New York last year I picked up the New York Times. The front page carried a report of a Professor at the University of Connecticut. He was working on infertility in mice. He started manipulating the germline of mice. Now, I do not think that this scientist is really passionate about infertility in mice. I rather suspect that the work in which he is engaged is concerned with human infertility and the lessons from animal germline infertility for human infertility. We all know the tremendous burden that infertility can cause. IVF is the best illustration of what people will endure to secure genetically related progeny. Would it be unreasonable, if we could overcome the impediments of a genetic character to infertility, that people should be assisted? If science could provide this, then should it be so? The strong statement of the four Nobel Laureates was that we should leave this alone for the time being.

At the moment, countries like Australia have recommendations from the National Health and Medical Research Council and bodies of that kind which make recommendations that government funding should only go to laboratories and researchers observing obligations to conform to limitations upon germline therapy. But whether that is effective, whether it would be effective on a global scale, given the potential of the huge funds that might attach to the therapeutic consequences of research into the germline, is a matter of some doubt. That is why it really is rather important, as it seems to me, that as a species, we should be giving more attention to this subject than we do at present. These are matters of great importance. They are not specific to privacy and confidentiality. It is important for us to see that privacy and confidentiality represent just one little subset of the enormous number of problems which arise out of the Human Genome Project. Yet when I talk to legal colleagues they would usually much rather go back to talking about the Rule Against Perpetuities of the Statute of Mortmain or the rules relating to motor car accidents or leases or bills of sale. That is all familiar territory. The genome, on the other hand, is all very problematical. It is very difficult.

Question: Grant Wills, University of Auckland. I would just like to ask you, I see in your paper you touch on the question of children and the genetic manipulation there. It is a subject which has aroused considerable interest and passion in this country. Just as our Act is fairly quiet on age of consent for children, have you got any information coming out of your discussions overseas that might be relevant?

Answer: There has not, as far as I am aware, in either of the bodies that I belong to, been specific attention to this issue. However, I suspect that it would be put off to one side as an issue which has to be dealt with conceptually in the context of the problem of a child's consent generally. It relates to the entitlement of parents or other representatives and ultimately courts to look after the best interests of the child.

There is relevant international law about children in the sense of the Convention on the Rights of the Child. That instrument contains a number of principles from which some guidance might be derived. I suspect that the International Bioethics Committee and the Ethics Committee of HUGO would feel that they have got their job cut out just dealing with those matters which are specifically relevant to the general topic of the genome, including the issue of confidentiality and privacy. It would be of interest to me to know what you, as people who have thought about, and are concerned with privacy feel about, for example, the rights of the family. Is this a different category? Should we treat the issue of patient control over their own healthcare data as bypassed in some instances by the development of genetic technology and genetic information? Do families have a right, in certain circumstances, to override the embargo imposed by the data subject? Is this something which the law should permit? Are the four conditions of the Presidential Commission in the United States adequate for our thinking? This is the kind of issue which we have to address.

The New Zealand privacy Commissioner, Bruce Slane, posed a very important question in one of his comments on this topic. He suggested that these issues are so sensitive and important that they should have the specific attention of the democratically elected Parliament rather than be the subject of subordinate legislation under general powers that were given to deal with more familiar problems. These are not completely novel problems we are dealing with here. If I can be allowed one comment. Unless the legislature does address these issues, there will be two consequences. First, the democratic feature of our polity will be shown not really to be working where things are very complicated and where complex technology is involved. Secondly, there is never, ultimately, a gap in the common law. The problem will always ultimately be solved. If it is not solved by Parliament, where it should be solved, it will be solved by judges. Judges like me will strive to arrive at a correct result. People like me, who are democrats, would prefer that such questions be addressed by Parliament, properly advised by expert bodies. The work of UNESCO and HUGO is designed to provide, at an international level, data which, at the least, will identify some of the problem which we should be addressing and to provide some guidance for the ways those questions might be solved at a national level.

Question: Ron Patterson. I suppose that the counter argument to waiting for Parliament to speak is that we wait a long time. In this country, for example, in the area of new birth technologies, we have waited for twenty years for legislation. We have had committees and so forth but we have not seen legislation. If one looks at the mini-Parliament that Bruce Slane was constituted as, effectively and promulgating his own code which then replaced the statutory principles, one would have to say that that has been more effective by putting out a temporary code within a few months of being appointed to office and then having widespread consultation on that. At least some informed debate occurred. We got some results which, I fear, we are not going to get, least of all in an MMP Parliament, with little time for problems as complex as those which you have raised.

Answer: What we have to recognise is that a modern democracy is a very complicated thing. It involves the working together, as it should be, of the legislature, the Executive Government and the judiciary. Each of these branches of government has its part to play. The mechanism that has been developed in New Zealand for privacy codes is very useful and innovative. If Parliament does not like the Privacy Commission's codes, or if there is an outcry and outburst, then they can be overridden by legislation. I agree with you that it is desirable, in some of these genomic issues, that there should be legislative action. However, I say again that if there is either no Executive Government code or no legislative response from Parliament, then there will not, ultimately, be a gap. The problem will be solved. Yet the nature of things is that a court, dealing with a dispute between particular parties, does not always have all of the relevant data. A court is not always as attuned to the complexities of problems we have been discussing here today.

One of the reasons I come to conferences such as this, to bioethics conferences and so on, is to inform my mind about these issues. They are increasingly becoming the work of the courts. This is partly because of the default of the other branches of government. That is why I am very grateful to have received an invitation to join you. I hope I have conveyed, just a little of the excitement of the Human Genome Project. And the puzzlement occasioned by the challenges that come in its train.

1	Justice of the High Court of Australia. President of the International Commission of Jurists. Member of the UNESCO International Bioethics Committee. Member of the ethics Committee of the Human Genome Organisation.