p. 12 in Intractable Neurological Disorders, Human Genome Research and Society. Proceedings of the Third International Bioethics Seminar in Fukui, 19-21 November, 1993.

Editors: Norio Fujiki, M.D. & Darryl R.J. Macer, Ph.D.

Copyright 1994, Eubios Ethics Institute All commercial rights reserved. This publication may be reproduced for limited educational or academic use, however please enquire with Eubios Ethics Institute.

2. Intractable neurological disorders and society

Itsuro Sobue
President, Aichi Medical University, JAPAN

Professor McKusick and I will chair this session on sociology and intractable neurological disorders. At the beginning of this session I want to make a few general remarks about this theme.

First of all I would like to look at the meaning of this session. The theme of this seminar is intractable neurological disorders, genome research and society. Even this sessions theme on sociology and neurological disorders is a very wide subject. The word "intractable" has a very deep meaning. About 21 years ago an intractable neurological disorders policy was started in Japan, and the word "intractable" was used for the first time. The meaning of the Japanese word is slightly different, but this is the word taken up by the Ministry of Health and Welfare. Among the various diseases, this word "intractable" has an administrative meaning as well. This is because, from the point of view of treatment, it is associated with a very large number of ethical, social and legal problems, these too are intractable. So this word has a very wide sense to it. We are going to discuss these diseases, and their diagnosis.

In this wide definition of diseases, there are about 150 diseases included. These include amyotrophic lateral sclerosis (ALS), Parkinson's disease (PD) and related disorders, Huntington's chorea (HC), spinocerebellar degenerations (SCD), multiple sclerosis (MS), myasthenia gravis (MG), polymyositis (PM), to name a few. In ALS, HC and SCD genome studies have progressed strikingly and their relations to the genetic phenotypes are being made clear, although we have not yet advanced to the stage of clinical application. The localization, production and metabolism of dopamine in the brain of Parkinson's disease patients have been elucidated. The mechanism of acetylcholine transmission at the neuromuscular junction and the immunopathophysiology of MG have been clarified by molecular biology research. However, although the pathophysiology of the intractable neurological diseases has been intensively studied, the real causes of most are still not known and therefore, clear-cut treatments have not yet been established.

These intractable neurological diseases each exhibit their own particular and distinctive symptoms, but in general are progressive and involve marked mental disorders such as anxiety and depression, as well as disorders of ADL. These are frequently encountered and therefore the social activities and quality of life of the patients are greatly impeded. Communication around the patients is also disturbed on account of their various symptoms such as paralysis, muscular weakness, dysarthria, cognition disorders and hypobulia. Consequently, they feel increasingly lonely and alienated.

Nowadays, care of such patients is a very important task, which imposes a great burden on their family. This also affects the wider community, and raises social issues. The necessity of home care for those with intractable neurological diseases is being emphasized and its systemization is needed, and these will be discussed in this session. Furthermore the economic cost to the sufferer and family are expensive for the intractable neurological diseases. For these various problems, there are a number of points whose ethical and legal aspects also need to be considered. Because of these features the organiser, Prof. Fujiki, has chosen to include these intractable diseases in the seminar, and in particular the neurological ones.

As I have mentioned above, the intractable neurological diseases have a bio-psycho-socio-ethical aspect, and should be dealt with from a multidisciplinary and synthetic standpoint. Among these considerations how best to raise the quality of life of the patients is the most important. With an aim to realizing this aim, an overall strategy integrating health, medical treatment and welfare needs to be implemented. We will discuss these today, with experts from all fields, so we must try to gather all the threads of the arguments together.


pp. 42-47 in Intractable Neurological Disorders, Human Genome Research and Society. Proceedings of the Third International Bioethics Seminar in Fukui, 19-21 November, 1993.

Sobue: First we heard from a religious point of view, on intractable diseases and Zen, from Rev. Kohzuki. Thank you. Does anyone have any brief questions?

Verma: I was very impressed by the example he gave of the man who had lost his limbs, and how he was helped by his mother. In Zen he has mentioned meditation. This is an art which has been practiced in India for many years. Most of our saints have been advising us to do meditation. We have used meditation to treat children with juvenile delinquency, I carried out a study in children and I found that meditation was able to improve their concentration, and it helped these children to cope with their disease. There is meditation and yoga which has helped children with mental handicap to cope with their disease. Are there any studies in Japan to use Zen to treat these disease, and what is the result?

Kohzuki: People who can meditate in the Zen way themselves are doing so. This can enable us to live with our sufferings, and also I think, enable us to live with intractable diseases. There may be some people who cannot practise in this way but I think that by building up their spirits they can learn to live with the disease without escaping from it. But this is not being done widely.

Sobue: Concerning research on Zen, the biological point of contact between Zen and physiological phenomena has been studied in Japan, in particular between Zen and brain wave patterns (EEG). We know that there is a possible curative effect of Zen on the brain, so there is scientific research.

Kohzuki: Zen is also being practised by a lot of people in Europe, for example there are groups in France, Germany and Italy, and people from many other countries are gathering there to practise Zen. In America as well, there are several places where Zen is being practised, but this is not our particular sect. In Minnesota they have built a temple as well, and a centre for zazee.

Sobue: Any further questions?

Leavitt: I am from Israel. I was very moved by this story that Rev. Kohzuki told us about this man, and I think the spiritual emphasis is very important to be stressed in bioethics. I thought that it ought to be also said, however, that the element of compassion which is extremely important, is a necessary condition for being ethical, but is not a sufficient condition. That is to say I don't think that we can be ethical without being compassionate, but there are many historical examples of compassionate people who, perhaps paternalisticly, killed people out of what they thought was compassion. It is very easy to think we are being compassionate when in fact we are not being compassionate. Consequently, I want to thank Rev. Kohzuki, I think that Zen has a lot to contribute to bioethics, but that I felt that compassion itself is not enough for bioethics, we need further guidelines or rules in order to know what we are doing when we are motivated by compassion is really moral or not.

Kohzuki: We think that putting compassion into practice is important. Just to have compassion is not good enough. Sometimes we have to be severe, sometimes kind. Religion is not something which is separated from our everyday life. If you are a Christian or a Hindu, or any other religion, then your religion becomes one with the other aspects of your life.

Sobue: We thank Dr Yonemoto for your presentation, are there any comments?

Milunsky: The eugenic idea about prenatal diagnosis in Japan was very disturbing in the last two decades, and there is still is, as you pointed out, a surprising lack of utilisation of prenatal diagnosis. I think that is a reflection of the eugenic ideas that still have remained since the 1970s. The real philosophy behind prenatal diagnosis is to assure parents at risk that they may selectively have unaffected offspring, and that their opportunity to make choices about whether or not they will bring into the world a child who will suffer with serious defects and disorders is a principle that is not commonly seen in many countries. It is a question of fundamental choice of having children born of sound mind and body. A considerable amount of education is necessary, primarily of the lay public, let alone the education of physicians, about the primary purpose of prenatal diagnosis.

Yonemoto: Thank you for adding something I hadn't touched upon.

Sobue: Any comments, please

Shoji: This concerns your third point. I think you were running out of time so you could not expand on this, but you were discussing the characteristics of Japan compared to other developed countries. There were two hurdles, and the first was not debated specifically in Japan. Could you please expand on this more concretely. What problems do you think that Japan has faced as a result of this failure to discuss this first problem.

Yonemoto: As we moved into the 1980s, other developed countries included prenatal diagnosis in health policy for those who might be at risk, for example, mothers giving birth at a relatively late age, and this became standard practice, but in Japan even now, there are only about 5,000 cases of prenatal diagnosis a year. This fact is the result of our not debating these problems earlier I think, and we couldn't introduce this kind of diagnosis as a standard into medical practice in Japan. It shows that policies in Japan are very different from those abroad, and as a result of these policies Japan has arrived at its present situation. If we are going to debate these in a social context in the future then I think that at the same time that we make technological advances we have to debate the ethical issues.

Milunsky: Excuse me for coming back to make another comment. One of the important points related to prenatal diagnosis is that it is totally unrelated to the abortion and eugenic questions. It is not well recognised, the world over, that more children are born because of the availability of prenatal diagnosis compared to the number of pregnancies that are aborted. If you study all of prenatal diagnosis cases, only 2-4% will end up with termination as the election by the parent, whereas those parents who have a child with a genetic defect will not proceed with having more children quite often in the absence of prenatal diagnosis. So many more mothers continue to have children after having a child with a defect because of the availability of the assurance of prenatal diagnosis in subsequent pregnancies.

Yonemoto: In the case of Japan, for example, if the mother has had rubella or has taken some medicine, there are people who just for these reasons will have an abortion. This seems very irrational and unscientific from the point of view of other countries, and I think this shows that our present policies are irrational. I think that this is a problem for society as a whole. There are very many irrational abortions, and I think that this is a great ethical problem. But I think that there are not many opportunities to take up this kind of problem in everyday Japanese society.

Sobue: Among genetic information and genes and the related problems, most of the subjects that have been pointed out up to now are related to biological problems, but how about psychological aspects? Is there any data to suggest that personality changes are brought about by changing genetic information?

Yonemoto: I'm sure such things are not yet done, though some mutations can happen. There are people who are researching into this at the moment, because they are scientifically sure that sort of mutation changes behaviour. We have to consider this aspect as well.

Sobue: Does it mean that you have to consider these aspects as well?

Yonemoto: I think yes, if you have a philosophy that if you manipulate DNA as a treatment, it means to change behaviour.

Sobue: We have to consider the psychological and behavioural factors.

Yonemoto: I don't know whether we should be doing this. I think we have to be very prudent about deciding whether behaviour or personality are genetically encoded in the blueprint.

Kaushik: I am from India, presently working in the Russian Academy of Sciences. Regarding Prof. Milunsky's comment, we conducted a survey in Russia and we found more than 90% supporting prenatal genetic screening but it was quite surprising that many of the respondents argued that this is a matter which will help children have better genes (See Kaushik & Macer, p. 211). It was quite surprising that people had some eugenic ideas for utilising prenatal genetic screening. So my view is that we still need a lot of education and training so that these eugenic ideas are not taken into consideration, and taken for their right meaning.

Sobue: Thank you for your comments, and we thank Prof. Emi and Mr Ishikawa. We have heard about regional or home health care, which is a very important topic now. Treatment and policy on intractable diseases are now concentrating on this type of development. We have some time for questions, and comments.

McKusick: I'd like to make a comment before my question. Mr Ishikawa has described a superb genetic support group, as we would call it. In the United States there are very many of these groups, and of course in other countries as well. In fact there is an alliance of genetic support groups in the United States which has some 150 member organisations, and almost every disease, and genetic disease, has a support group. Several diseases have several support groups in a sense competing with each other. They serve an extremely important function along the lines that you described, including the fostering of research, the provision of moral support and the education of the public. The removal of stigmatisation is a very important role of these groups. My question is, what other genetic support groups have developed in Japan?

Ishikawa: Unfortunately in Japan there are presently hardly any such activities taking place, it is very rare.

Osawa: I was very impressed by your talk. I'd like you to tell me something if you could. It may be my lack of knowledge, but about this three month limit on stay for people with intractable disorders in hospital, there are some people in my hospital who have been there for twenty years. Recently we have been discharging them earlier, but there are still some who stay for two or three years. Is there some rule about this three month period?

Ishikawa: Yes, this is a policy of the Ministry of Health and Welfare. If patients stay longer than three months the budget of the hospital is reduced so recently even patients with respirators attached have been discharged from hospital, and this is becoming an extremely important problem for regional health care. I don't think that your hospital, Tokyo Women's Medical University Hospital, is an example of this.

Sobue: In places under the direct supervision of the Ministry they are enforcing this rule very strictly, this is an economical problem not a problem of treatment.

Fujishita: I was very impressed by your talk. In nursing in Fukui Hospital, I have visited many places. There are two things that I am concerned about. The first is that because medical personnel in that area do not tell the patients how to contact the facilities they need the patients get very worried. The second is that in a very Japanese sense of values, the patients do not demand information about a network for themselves, rather they are satisfied with the information they have, or rather just give up any hope of further improvement. I think this is a very Japanese way of thinking. I've seen how in order for us to be able to build a kind of system where we can support 24 hour a day care needs I think we need to have people taking care of their own health. People tend to leave their care to other people.

Ishikawa: I've been involved in a muscular dystrophy movement, but what we can say is that these movements only deal with problems of the patients themselves in their own group, but if we just do this we won't have sufficient influence. We do have specific problems but if we over-emphasize the specificity of them we lose the advantages of numbers, I suppose we could say. We are dealing with the problem from the point of view of many different individual diseases, but we need to look at them collectively. This is also true for dealing with elderly people. When we look at these problems from the point of view of all these diseases there will be more effective social policy taken. I think we all have to band together, all people and medical organisations, to come to grips with these problems.

Sobue: We thank people for their comments, let us break for coffee.

McKusick: We would next like to hear from a lawyer, Dr Mykitiuk from Canada. I am sorry we have no time for questions now, next we will hear from Dr Billings. I think we should entertain a few questions on Dr. Billings presentation.

Yonemoto: I research on the history of eugenics. I was listening with great interest to Prof. Billings' presentation as a historian of science. I think that this is very important as a problem in the philosophy of science and in its social implications. This area has been taken up and publicised a lot in magazines such as Time and Newsweek, but I am worrying that the opinions of those such as Prof. Billings may be those of a minority in the United States. How should we deal with this, what kind of public statement should we make, and how should we deal with mistaken or incomplete research on these traits?

Billings: I thank you very much for your question. There is currently a great variance of opinion, both within the gay community and in the straight community, about the relevance, importance and impact of biological research into the basis of homosexuality. But the dominant fact is a political and social one, which is that people with non-heterosexual orientation are discriminated against in our society, and in many societies, internationally. Thus it seems to me that this should be the absolutely dominant social and political fact which scientists as citizens and as participants in this research must acknowledge, and play an active role in both educating the public about the rather profound limitations of their analytical method, as well as the fact that biology will never replace political, social and cultural processes, which are needed to address these problems.

Cook-Deegan: I wanted to clarify one of the axes by which you are making a distinction, but first a couple of technical comments. One is I think that you have alluded to some of the failures in psychiatric genetics to be able to use linkage analysis in schizophrenia, whereas the manic depressive studies are of course real. The technical solution that you suggested is to elevate the level of the LOD scores, but of course that is not going to work. Because in the case of manic depressive illness you would have had to raise the score a sixth before you would have lost the problem, the problem was not the LOD score but the insensitivity to misdiagnosis and misclassification. It is a different thing, and not an easy thing to solve.

The danger of trying to solve it in the way that you suggest, which is to kind of add a scientific criterion for certain classes of disorders, is that you are going to raise the levels so high that you are not going to be able to find anything useful as a research lead. At the beginning of the story of familial hypercholesterolemia, was a LOD of 1.0, so it is not as simple as saying there are objective criteria which you can put in place now. The thing I am interested in is how would you distinguish a criteria for a character, or a thing to be studied, to avoid the word character which implies genetics, how is it that you decide something which is OK to study from something which is not? There is clearly a continuum. On one hand we have pure diseases, and on the other, things which are a mix of social and disease constructs. I'm curious, Alzheimer's disease is a stigmatised disease in certain societies, it clearly has been extremely productive to use the linkage gene hunting strategy, we have found three linkages and one gene, probably a couple more to follow. This is a really powerful strategy, like trying to understand many other intractable neurological disorders, that you cannot get a handle on otherwise.

Billings: First of all, if you were to interpret my paper, as saying that this research shouldn't go on, that would be a misinterpretation.

Cook-Deegan: But I don't think it is Paul, you are essentially throwing up areas?

Billings: I am.

Cook-Deegan: If they are going to return their NIH money, and they are not going to take Foundation money, I don't know how they are going to do it.

Billings: I only suggested that they don't take Foundation money from Foundations which are overtly dedicated to developing biological differences between groups, and thus justifying discriminatory social and political practices.

Cook-Deegan: But the NIH is not in that business, so I am trying to figure out why they should turn back their money. But anyway, you are putting up hurdles for certain classes of research that are not there for others, and I am trying to figure out which bin a particular domain lies in.

Billings: In fact what I am asking for is heightened recognition by scientists, whom I think you would recognise, have been quite void of taking responsibility for the applications of their work, to the issue of the applications of their work, particularly when they are working in subjects and fields with a long history of stigmatisation and discrimination have occurred. For instance, let's take the Alzheimer's story. It is in fact quite true that the genetic approaches have revealed that there are three significant sites which are potentially likely to reveal some insight into this disorder, but it would be wrong to think that this will cure the stigmatisation and other kinds of social problems that people with mild forms of dementia have, or this will deal with how this type of technology should be used by the families of those affected. So all I am suggesting is that there is a way that the current organisation and attitudes of many of the people doing this research disassociate themselves from the context in which their work is being conducted.

Cook-Deegan: I don't want to dominate things, let me just push on one point though. I think that there is a hidden premise in what you are saying though, which is that genetics is part of the stigma. Now, I think that you can arguably say, and it has certainly been the thrust of the National Institute for Mental Illness in the United States, that genetics can equally be a tool for destigmatisation, for schizophrenia or bipolar disorder, for all sorts of psychiatric conditions. In fact, it has been promoted by the disease support groups precisely as a vehicle for putting it in a category of medical illness as opposed too something that your mother or society caused. So I think homosexuality is another case where it is not immediately clear to me that genetics is part of the stigma, in fact, it might be equally plausible that genetics would be a tool for destigmatisation, rather than stigmatisation.

Billings: Well as I suggested in the paper, I think that it would be a call for a review of the stigmatisation, it may be a different kind of stigma. Before everyone goes for lunch, I will give a mental disease example. This is a brief story. When the gene for schizophrenia was reported to be localised some years ago, a newspaper in Massachussets ran the headline, "Gene for Schizophrenia found", which in fact wasn't what had been found, so I called up the editor of the newspaper to ask why they had run this headline which was an extrapolation from the research, and they said "Well, we did it for legislators in the State of Massachussets. They are unwilling now to fund research into schizophrenia because the Freudian model is dominant, but they would be willing to fund research if it was a biological illness and not a psychological illness". I think this is how this kind of research gets played out in various different ways, on different people's and group's agendas, and I think it is an inadequate analysis for scientists to not recognise this.

Sobue: Well six speakers have had their presentation, so now Prof. McKusick will give a very important presentation....Thank you for your paper, are there any general questions or comments on this session?

Leavitt: I think that Dr Mykitiuk's paper deserved a lot of questions, but for reasons of time we didn't have any before. There were a lot of extremely important and interesting points there, but I will just limit myself to one, which is this court case of physician-assisted suicide. I think it needs to be remarked that the medical profession, and I don't happen to be a member of it, is different to many other professions in that it carries with it a great many responsibilities, and of course, rights. I think when we discuss all the issues with physician-assisted suicide and of course euthanasia, even if, and in my opinion per absurdum, considerations of rights and autonomy and self-determination were to justify assisted suicide, I think it is a separate question, and one which needs to be distinguished from the one "What effect will there be on the medical profession, if a profession which has always had the goal of curing and saving life were to take up own itself the legalised assistance in ending life?" I think this question needs to be very seriously ethically considered. Thank you.

McKusick: That is a very valuable point, Dr Mykitiuk would you like to comment?

Mykitiuk: All I would say is that in the actual court decision, that specific responsibility was never separated out as a discrete factor to be considered. So that when the analysis of various societal interests was being weighed, the interests and the responsibility of the medical profession was not something that was singled out for special analysis.

McKusick: As a physician I do feel that that is a very important consideration, I do think that would change the ethos of the medical profession considerably if it is given this new role. Prof. Lo, from Beijing, you have a comment?

Lo: I would like to ask Dr Mykitiuk, is it true that in Holland, there is a law passed that will allow the practice of euthanasia in that country?

Mykitiuk: Yes

Lo: If that is the case, then we can see that there is a diversity of opinion about this matter.

McKusick: That would certainly seem to be the case.

Wikler: I have a question of detail from Dr Mykitiuk's analysis, if I remember correctly, you maintained that patients who had gotten counseling and patients who don't have counseling, but who have the same genetic predicament, would be affected differently by a doctrine of genetic responsibility, because those who know their situation, would then be told that they have a duty not to have children with these diseases, whereas those who did not know would not have this responsibility. Doesn't this imply that under a doctrine of genetic responsibility people would have an obligation to seek and consent to genetic counseling so that they would find out whether they were in this predicament?

Mykitiuk: I think that is right, but I think that it then begs the question whether it imposes an obligation, or whether in this case it imposes a right not to know. It also raises the question about how is it that you are going to insist that people actually receive such tests. If it requires some sort of physical invasion, how ever minor it may seem to be, you could argue that it was imposed battery on somebody to have to undergo such testing. So it actually begs the question of whether or not you are going to impose that burden of responsibility on somebody, and in the absence of doing so it raises the whole question about whether or not their is a dichotomy between the responsibilities of those who actually do participate in the testing or screening and those who don't.

Tranoy: I am a philosopher from Norway, and I want to share with you a couple of pieces of relevant information from Scandanavia. In Sweden and Norway suicide used to be a criminal offence, however strange it might seem, and an unsuccessful suicide would lead to punishment of the person. Of course, in earlier times the church punished you even if were successful, you weren't allowed to be buried where other Christians were buried. Now, according to the criminal laws, suicide is no longer a criminal offence. In Sweden, assistance yielded by anybody who wants to commit suicide has also been decriminalised, so it is no longer a criminal offence to assist somebody who wants to commit suicide, and this then holds for doctors as well as anybody else who is under Swedish law. In Norway, assisted suicide is still a potentially criminal offence according to what is on the statute books, but it may develop in Norway and in the rest of Scandanavia quite clearly in the same direction as it has been doing in Sweden.

McKusick: Thank you. I would like to thank all the speakers and cochairman.

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