pp. 99-101 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.

Genetic tests: bioethics and social acceptance

Kiyotaro Kondo
Professor, Department of Public Health, Hokkaido University School of Medicine, Japan


Recent technical progresses in genetics has enabled us to identify high-risk individuals for a variety of single gene loci or various combinations of genes, not only among patients and their relatives, but even population scale screening. The possible applications of genetic techniques have widened beyond treatment of inherited diseases and cancers, to predictive interventions for common diseases in the framework of public health systems. Moreover, an infinite range of applications are likely to be used for insurance, employment, administration, and other non-medical purposes.

Traditional discrimination against genetic diseases, however, still prevails and new frontiers in genetics always provide new reasons and excuses for new discrimination. Genetic discrimination refers to discrimination directed against an individual or their relatives based solely on an apparent or perceived genetic variation from the "normal" human genotype (Billings PR et al (1992) Discrimination as a consequence of genetic testing. Am J Hum Genet 50: 476-482).

Discrimination is one of dark heritages of human societies. Sex, race, and faith are classical examples of discrimination that have caused serious agony and suffering to people since the birth of civilization. Ultimately after the completion of the Human Genome Project, when it becomes possible for someone to carry a "diskette recording their entire DNA sequence", the burden of novel and unpredictable discrimination may be monstrously large. Various academic organisations and lay groups are deeply concerned about these shadows lying in the wake of the brilliant progress in genetics.

As a chairman of this session, I will review some fundamental problems in acceptance and bioethics for selected applications of genetic tests. Citations of literature are avoided.

1. Expanding Genetic Tests

Genetic tests include all kinds of techniques applied to an individual to elucidate their DNA pattern, genotype, and subclinical phenotypes, as can be identified in an examination, or in family studies. Probably, the Folling urinary test for "oligophrenia phenylpyruvica" introduced in 1920s is the first example of such a test.

They represent fundamental techniques in clinical genetics for therapeutic intervention and genetic counseling. Today, however, owing to developments in gene techniques and social frameworks, genetic tests are being carried out, being proposed, and are increasingly feasible for purposes other than clinical.

Recent trends of genetic tests are characterized by:

a) Wide range of target diseases. Not only discrete genetic entities in childhood and young adulthood causing serious clinical syndromes can be tested for, but genetic tests now cover various health disorders. Common diseases in later life are examples of such disorders which are often multifactorial, with genetic factors partly contributing to increased susceptibility of being affected. genetic factors may increase the risk only several times. Genetic analyses for cancers represent other examples where it is possible to diagnose or to predict preclinical cases.

b) Wide range of target individuals. Not only patients and their relatives, but general populations such as all neonates, school boys/girls, employees of a corporation over some age, are now screened without prior individual informed consent by each member.

c) Wide range of organisations involved. Not only hospitals, but various organisations including private enterprises are now involved in various phases of genetic screening which may be conducted for purposes other than protection of health.

d) Wide range of expertise and assisting personnel involved. In addition to physicians, clinical geneticists and nurses, various professions are now involved in genetic screening who have not necessarily the same ethical attitudes to the inherited diseases and related issues.

e) Non-medical applications. Genetic tests enable objective evaluation of all aspects of human diversity. Applications of this information are immense and unpredictable.

2. Frameworks of Genetic Tests and Ethical Issues

Genetic tests were born in clinical medicine, then found their way into public health, and now are emerging out of the scope of health care. Here, several situations are schematically classified in which genetic tests are utilized.

Situation A. Clinical services and genetic counseling. Formerly, this is the only situation where genetic tests were carried out. Ethical issues are usually adequately met in genetic clinics when individual service is confidentially given by attending physicians and their staff for each patient or client who visits the hospital, and gave informed consent. Informed consent is completely individual and made before any intervention. In this setting, staff are devoted to help the patients become fully aware of their ethical duties. Usefulness of the test usually far exceeds the invasion, costs and manpower required.

Situation B. Regional exhaustive screening for selected genetic diseases. A typical example is neonatal screening for metabolic diseases, including phenylketonuria. The entire program is justified by its usefulness and especially because effective treatment is available for detected cases. Cost-benefit considerations are positive. Individual informed consent is not available at the time when the Guthrie samples are collected, but usually subsequent treatment for the detected positive cases are almost identical to those in Situation A.

Situation C. Regional or disease-oriented genetic registries. Justifications for the genetic registries are obvious, but there are various ethical issues. Among others, informed consent is made for the index case when the family is registered, but inevitably, secondary cases and the

gene carriers are told about their being affected by the staffs of the registry.

One of the justifications of the registries is to expand opportunities for prospective genetic counseling by means of expanded detection of the carriers among the relatives of the index case. This is useful for better family planning as well as "eugenic" for the community. Some people are not willing to know the facts about their genetic status, however. The registry represents a nuisance to such people, because in ignorance they can live with hope for the future. Ignorance may be necessary for some people doomed with a bitter fate.

Situation D. Enrollment-related screening. Health examination is often a part of the formalities that are required for applicants to go through before employment and other enrollment. In many private and public corporations, health examinations are made regularly to protect individual enrollees and promote the standard of health in the corporations.

A serious problem with group screening, particularly in workplaces, is that the results of the screening are often first reported to the manager. Decisions are made by the manager, no informed consents is given by each applicant or enrollee, and they do not make policy. Very often in such a case, the information is used to reject applicants from enrollment, and to protect the corporation from possible future trouble and any burden by eliminating asymptomatic-ill enrollees before they manifest diseases. Particularly in profit-seeking corporations, the recognition of a genotype at high risk for common diseases may stigmatise the employee or applicant, slowing their promotion or stopping their career. Any possible advantage of predictive health protection may be far smaller than the disadvantages resulting from misuse of the information.

Situation E. Genetic tests in commercial insurance. Insurance is a system to disperse a large risk among many insurees who pay relatively small amounts of money. Probability of the disaster must be reasonably equal among the insurees. Applicants may be rejected, or covered with higher rates if they are tested to be "substandard" applicants, having increased risks.

Questions usually cover their personal history of disease and their treatment. Recently however, notification of the results of some clinical tests are required. Not only history of AIDS, for example, but a HIV antibody test is mandated in many companies. Secrecy is kept and no discrimination is made for marital status, occupation, sex preference, residence, etc., in asking for such information. An applicant can refuse the notification, but usually it leads to a decline of the application or serious limitations of eligibility. Genetic tests, e.g. for Huntington's disease now evoke identical problems.

Reasons to exclude "asymptomatic-ill" include: 1) to avoid a loss due to "reverse selection" (those who hide a disease wish to be insured); 2) violation of notification duty is difficult to prove in a disease with a long incubation period; 3) which is often longer than the cancellation period of the contract because of the violation.

Situation F. Other uses of genetic tests. This include all possible future uses in health, as well as for the purposes other than health.

3. Cultural Heritage, Regulatory Measures, Legislation

Immense possibilities for the future applications of genetic tests give us hope as well as nightmares. Prejudice and stigma against people with inherited "abnormality" has a long cultural heritage in many cultures, which still persists.

In Japan, people lived in small immobile endogamous farming or fishing communities for thousands of years. Taboos, rites, primitive understanding of nature, and Buddhist concepts of the turns of life, characterized the society until the earlier half of this century. In such a closely-knit society, even a small difference was noticed and value judgements were made by neighbours. These situations combined with supernatural interpretation in "etiologies of diseases", inevitably cradling stubborn discrimination against stigmata that ran in families, with concepts of sin, curse, ominous signs of misdemeanours or crimes of ancestors against people, animals or Gods. These were all associated with these stigmata, not only among villagers but among the affected victims themselves. Segregation in marriage was the rule, although they were accepted as a member of their local communities.

While such premodern belief is still a subconscious relic, today's fiercely competitive society where people are mutually indifferent, cradles new systematic discrimination to create new underclasses. Man is diverse, but some deviations are subject to value judgements, and people with deviations are disadvantaged by the majority. Progress in human genetics including the Human Genome Project are apparently useful, but we must be aware of all the unpredictable drawbacks they may cause. They provide new, extensive, and highly reliable objective clues for drawing new classifications of those who are to be "discriminated", by hidden relics of the past camouflaged by technical jargon.

Regulatory measures to protect not only known patients but "asymptomatic-ill" people and all possible underclasses thus created must be considered upon thoughtful recommendations in each country.

In the United States, the liberal attitudes of society ready to accept agreements between each party involved, help make the undesirable consequences quickly visible. In Europe, logical corollaries of the existing laws and regulations are likely to yoke freedom. In Japan, in addition to similar restraints, social consensus gratifying emotions is always required before any action. Despite these differences, however, there are fundamental problems across all cultures. They include: publicity activities for lay and academic public, the ELSI activities appropriate for the needs of each country, expanded and open discussion on the merits and demerits of the gene techniques to develop regulatory measures and, if needed, legislation to research and applications of its results. Genetic tests are typical examples of the application.

Technical developments should be for man's happiness, first of all.

Acknowledgements

This study was supported by grants from the Japan Ministry of Health and Welfare. Cordial thanks are due to Ms. C Ohnishi for her excellent technical support.


pp. 133-141 in Intractable Neurological Disorders, Human Genome Research and Society. Proceedings of the Third International Bioethics Seminar in Fukui, 19-21 November, 1993.

Discussion


Kondo: The first paper was by Dr Michael Yesley, whose title was the Behavioural Genetics Debate in the United States. The paper is now open to discussion.

Leavitt: I very much appreciated and agree with you opening remarks, especially about not telling people what to do or to try to touch them, but to step back and let individuals make decisions. A point of controversy, however, is you spoke about freedom of speech in research, and of the loss of an opportunity for scientific discussion. I wonder if it's really appropriate to talk about freedom of speech in research with respect to a context where specific views and approaches, and not others, are regarded as scientific and legitimate. When, with all due respect to the American government, when tax money is being taken from people and then invested in research of a certain type, where other types are not giving so much of a hearing. I wonder if such conferences wouldn't be more successful, and the ideas of freedom of speech would be put into practise more truly, if people weren't found, such scholarly intelligent scientific people, to express such alternative views, perhaps such as spiritual ideas, and not just from Western religions, but other possible causes of behaviour, crime for example, and of radical Marxist, or whatever other points of view. In other words, if such conferences were to be a little bit more balanced, perhaps the ideals of freedom of speech in research would be more truly put into effect.

Yesley: Well, I tried to make the point that this conference would have presented both sides of the question, and so I think that in fact it was a true freedom of speech issue because the government was not just supporting a presentation of one side, but was attempting to air the views of both sides.

Kondo: Our next presentation is by Prof. Tranoy, entitled "Restrictions on applied genetics and not on research". Thank you very much, we have enough time for comments or questions.

Billings: It was a very lovely paper. It's a kind of traditional way of speaking about somatic or germ-line therapy to talk about the uses for disease as opposed to uses for enhancement. Yet, I sometimes have problems with this division, let me give you an example from the United States. One of the most common uses of genetic engineering is the production of human growth hormone, and this is used in essentially three classes of individuals. Those who have phenotypic short stature associated with deficiency of human growth hormone as part of their constitution, those which have phenotypic short stature as part of a constitution which does not include a deficiency of human growth hormone, and those that have short stature. In all cases you can demonstrate a healthier outcome, there have been demonstrations in all these three classes of benefit. It seems to me that then sort of defines a therapeutic right to the mean, to come closer to normalcy, and that this division between disease and enhancement goes away. I wonder whether you might comment on that, and also on whether that would apply to germ-line gene therapy as well.

Tranoy: Let me say before I answer, that I showed my paper to a colleague of mine who is a geneticist just before I came away, and it dawned on me that my understanding of germline therapy in inadequate. So I don't know whether I will be able to adequately answer the second part of your question. As to the first part, about short stature, I would say that this is one reason why I put emphasis on the definition of disease control, if short stature is so short that we would say this is a disease which would cause suffering in the person that is in this way afflicted, I cannot see any moral objection to using one or the other type of genetic technology in order to cure it, or in order to alleviate it, or correct the condition that was connected. There is no doubt about the fact that there is considerable suffering connected with being too short. The other point that I would make there, is that I don't think that the distinction between disease control and enhancement goes away even if we have these things. To have, what we call in Norwegian "grey zones", where there is a finely graded or even an ungraded absolute continuum between two extremes, is like night and day, summer and winter, and so on. As long as we can say very clearly about some of the extremes that this particular characteristic is either very desirable or undesirable, I think we are gradually learning how to handle the problem of how to make decisions, which in one sense appear. Let me take another example, the age at which you acquire the right to vote changes from one day to the other according to the law. We don't think that is arbitrary in some sort of negative sense, rather it is just the way we have to handle this kind of problem. I would imagine some similar methods or attitudes might be useful in connection with other similar cases.

Kondo: Thank you, please make the question brief.

Wikler: Your invocation of the principle of double effect is very striking way of putting this issue. Your point I take it is that if the motive were eugenic, then even though this might have the same effect, on the decisions of all the affected parents, we would still judge it differently from a moral point of view because of the different intentions. I wonder if you could say why it is that you think that the eugenic motive would be questionable, if you assume that the means used would be nondirective, let us suppose that your motive was to eliminate a gene from the population but you had no intention of sterilising anyone or forcing any reproductive decisions, you simply made counseling available, and so on, on the belief that people would take notice of it. Isn't then the eugenic motive in that case just a more generalised kind of concern for the suffering of potential offspring, whether they are your own or not. Under that characterisation wouldn't the eugenic motive be even more acceptable from a moral point of view, than just the individual parents.

Tranoy: It is very easy for me to answer that question, because I don't know how to answer it. I find your way of putting the question and reasoning about it very attractive, and it may be a question of education in some sort of sense, but I've struggled with it. It is not long ago that I discovered that this sort of analogy with a positive version of the law of double effect, and I am pleased to see that you understood want I meant, because some people don't. It seems to be difficult to grasp. It seems to me to be one way of coming closer, at least, to a sensible way of managing this problem. Because it is quite obvious to me too, that it is a general desire that we all wish our gene pool was without the Huntington's gene.

Kondo: Thank you very much, time is already up but if you really have a very important question please say very briefly.

Matsunaga: This is not a question, but only a comment. Historically eugenics in Scandanavian countries has been viewed solely as a matter of medicine. And this is in marked contrast to Germany or the United States. In Switzerland and the Scandanavian countries, for example Prof. Tanekan in Denmark, he wrote in a book that this was a purely medical concern. We Japanese would prefer this way.

Tranoy: Thank you very much.

Kondo: Thank you very much. The next paper is by Prof. Macer, talking on the social acceptance and consequences of genetic testing in Australasia and Asia. Thank you for your presentation, unfortunately time permits only one question.

Takebe: One of the difficult problems with handicapped children is education, when they need more education or support for job training, for example. Do you have any system in an advanced country like New Zealand or Australia, of a government supported program for helping those children after they get old enough to support themselves?

Macer: Yes, in New Zealand, attempts are usually made to integrate handicapped children into the same educational system, with additional facilities for special education, and they are attempting to introduce them back into the community. This has two purposes, one is not so honourable in the sense that it is to try to save money for the government, but the second, which is a good motive, is that it is trying to reintroduce handicapped people back into the society into everyday life, so that there is no discrimination. So they receive, the same as in Japan, free public transport, there are also be some special job schemes to help introduce them into the work force, organised by a mixture of government and private organisations.

Kondo: Thank you. Now we will break for coffee.

Nishimi: The next paper is from Prof. Kawamura, a nurse. Thank you for your paper, are there any questions.

Leavitt: I was very grateful to hear your talk, and to hear a talk from an experienced nurse. I teach ethics to nursing students and nurses, but sometimes I really feel I really don't have very much to teach them, and that they could teach us so-called bioethicists a lot of ethics, because we can talk a lot very theoretically about compassion, but really its the nurses who practise much more compassion from day-to-day than the physicians and certainly much more than us bioethicists. I think that much more has to be done to give nurses a voice in bioethical discussions because they have a lot to teach us, and I simply wanted to thank you for moving in that direction.

Nishimi: Are there any more questions?

Shirai: You gave various examples which raise many issues, so it was a very interesting presentation. I was very impressed by your work. This is more of an impression than a question, but I think it would have been good if we could have talked about the topics you have just talked about in the context of the counseling and diagnosis session we had yesterday. Today you gathered you talk together under the title of the "Health Care System", and in that context do you have any comments on nursing and the role of nurses in counseling and diagnosis, particularly in counseling, within the health care system itself. I think that counseling and nursing overlap rather a lot in the health care system so how do you see the link between them? How does this tie up with what you said at the end of your talk. How can we support the patients during counseling or in the the followup. I think that followup is something that is greatly lacking at the present time in Japan.

Kawamura: In Japan at present counseling is a very particular and specific action. We have one person in the room on a one-to-one situation, the counselor and the client. The patient of family feel like they are being indoctrinated. I think that we need to bring counseling into the context of concrete support for the patients, and followup support, and this would be more beneficial for them. This is missing in the Japanese health care system.

Nishimi: Thank you. The next paper is by Dr Nakahara on the development of science and technology in health administration. I am sorry we don't have any time for questions now. The next paper is by Prof. Hamaguchi, on genetic screening for the prevention of common diseases. Thank you, we can take a question?

Dausset: I would like to congratulate Prof. Hamaguchi for his interesting presentation. I think that now we are at the beginning of a real preventative and even predictive medicine and I would like to ask him a little bit more about the difficulty that he found in this screening. Do you think that this could be generalised to all the schools in Japan, to test those who are at risk of these diseases?

Hamaguchi: We are carrying out this testing in only one small limited area. But there are a number of problems in developing this into a nationwide system. In our area this screening has obtained social acceptance, but we don't know whether that would be true in other areas, particularly in metropolitan areas. I think this could become a barrier to the wide diffusion of this testing. In presymptomatic screening, we of course need to obtain social acceptance, and the important factor is to have both treatment and prevention for it, and the removal of discrimination against the disease.

Nishimi: Prof. Matsunaga, you are next.

Matsunaga: I would also like to applaud your excellent demonstration of what a human geneticist can do to the health of the society and community. I have two questions. The first question is whether the screening for familial hypercholesterolemia could be incorporated into the mass screening of newborns, by blood testing. You can already perform diagnosis of heterozygotes by newborn blood. The second question is you found hypercholesterolemic children with a frequency of 7%, it seems to be extraordinarily high, how is this?

Hamaguchi: Concerning the first question, it seems that a number of pediatricians are thinking about mass screening of neonates with familial hypercholesterolemia. But it may be difficult to develop an appropriate method of testing to do this. There are a number of factors which cause hypercholesterolemia, so we need pedigree analysis to diagnose familial hypercholesterolemia, which takes a large amount of time. Concerning the second question, in Japan, pediatricians who are studying hyperlipidemia point out that the frequency of hypercholesterolemia in Japanese children is similar or even higher than that in children in the USA. This phenomenon is probably due to change of lifestyle including dietary factors. From genetic and environmental points of view, there are various types of hypercholesterolemia. Familial combined hypercholesterolemia is one of hyperlipidemia, and genetic factors are strongly involved in its development. It is much more frequent than familial hypercholesterolemia in Japan and the USA, but the gene responsible is still unknown.

Kondo: Prof. Milunsky next.

Milunsky: I had three questions, first in your Apo(a) allele size study was there consideration of the confounding factors such as body weight, family history of diabetes, or smoking?

Hamaguchi: We have done stepwise logistic regression analysis including diabetes and smoking, though I did not show the data in my presentation.

Milunsky: My second question is related to the use of cholesterol screening in children. Prof. Matsunaga had suggested neonatal screening, but with my limited knowledge on the subject, neonatal screening is not a good predictive predictor of future hypercholesterol disease. My reading of the literature is that screening in childhood was not a very cost effective way of testing the subject, but rather to find families by history, and then screening those particular families.

Hamaguchi: The question of how effective or economic neonatal screening might be is just as you said, there would be a number of problems in introducing this.

Clarke: I have one comment and one question. My comment is about confidentiality, if the testing is taking place in an institution like a school or place of work, to preserve confidentiality it is very important that the followup arrangements for those have been found to be at increased risk of the problem, are not obviously different depending on the test results. This is a problem of screening is seen in some workplace screening when all the high risk subjects have been taken out and given extra information, or whatever, at some point during the working day, so it is very obvious to them, and to their low risk colleagues, who has what result. Therefore I think it is very important for the followup to be done away from the place of work, in a way that doesn't identify people. That is my comment, my question is the children, the 7% or 242 who were found to be hypercholesterolemic, for the vast majority of the children, who were part of a family who were not at risk for hypercholesterolemia, for the other 230-odd families, or children, can you tell me what information those families were given, and what types of anxiety they might have been left with.

Hamaguchi: Thank you for your first comment. We also have been playing a lot of attention to protecting the confidentiality of the family, so we only let the family know. Concerning your second question, about 7% of the children have hypercholesterolemia, but we analysed children of 9 and 12 years of age, and in these cases we made the cut off point as 200mg/dl. These were the children we screening primarily. Familial combined hyperlipidemia is several times as frequent as familial hypercholesterolemia, there are also others. So when we are explaining this to the families we divide it up into these three classes and explain the treatment of prevention that they need to take depending on the class we divide it into.

Shirai: I'd like to ask two things about informed consent. First concerning the school surveys. In Japan when we carry out our health tests in schools it seems to be carried out in class as a kind of lesson. You said that they took part in this voluntarily, but were there any people who having been given the information refused to take part in the test? Secondly, for familial hypercholesterolemia, you said that there was very little discrimination, but at the time of taking informed consent, do you explain this as being genetically determined? From the point of view of a lay person this has a different meaning to the way a specialist would take it. I'd like to hear your comments.

Hamaguchi: The first question, on informed consent to the parents. For children who were picked up by the first screening we explained to the parents and 100% of the parents chose to have their children examined. When we went on then to familial screening of the families there were families who for various circumstances chose not to be screened. As to the question of whether the level of cholesterol is raised genetically or by predisposition, we do not use the word "gene" in our explanation. If we say because of their "predisposition" then the Japanese people tend to take this as meaning a genetic factor is involved. If we said straight out that it was genetic they would get a great shock and a wrong impression, so we use the word "predisposition" to soften this.

Kondo: Thank you very much. All papers have been presented, and we have ample time left to discuss these papers, so please either continue to discuss Prof. Hamaguchi's paper or any of the other papers.

Leavitt: I thought I would take the opportunity to get in another question about Prof. Hamaguchi's paper. I'm concerned about this point of testing for diseases for which there is as yet no treatment, I have a colleague, Velv1 Green, that says that ethics is making epidemiology impossible, and that too much ethics can be bad for our health. I have a question, in cases in which the disease might be caused by a combination of genetic and environmental factors, I wonder whether the only way to find a cure to these diseases might be to carry out epidemiological studies before the cure or prevention is found. Only then would we be able to find the environmental cofactors of the disease. What is your response?

Hamaguchi: I may not really the suitable person to answer, but as you said, first to find a treatment of preventive method we are looking at firstly environmental and genetic factors of a disease, then moving on to look for treatments or prevention later. For diseases for which there is no treatment available at present, and how we should deal with those, I think that this may vary with the disease.

Kondo: Let me explain some general principles of preventive medicine for adult diseases in this country. We have an optional health examination system nearly free of charge for all people over 40 years or older. Recently they introduced a one spot health check for those aged 35 years, for premature adult diseases. It is possible to use this free service to be screened for major adult diseases, including hypercholesterolemia, which includes measurements of HDL or LDL, as well as triglyerides. In some communities there are additional optional facilities available for LP, or electrophoretic facilities, free of charge. So this is the starting point for preventing any adult diseases, including Ischemic heart disease. So genetics is something that comes behind this, our primary screening is already underway. So I have a question for Prof. Hamaguchi, you proposed a very nice attempt to screen for a disease from offspring to parents. This seems to be rather strange and difficult to be accepted by the general public. But you said that the social acceptance was very good, this is what I cannot understand very well. Could you please add more information about this?

Hamaguchi: Your question, isn't it strange to diagnose from the children to the parents, we don't know whether our method is a reasonable and an universally applicable method. Around our university its a rural area, but there is a lot of respect for our university and the doctors in the hospital, so I think they tend to trust us. And more than anything else the staff of the actual screening personnel supported us in this. So there are no problems in our area, but if it came to a general screening system the situation may be different. I think it may lead to general problems, so I think we must be very careful.

Billings: I would like to pose this question to either the chair or Prof. Hamaguchi. Discussing genetic screening, especially that which would involve the pediatric age group, the issue of the discriminatory uses of genetic information become very important. Certainly the United States has a lot to learn from Japan, in the sense that Japan provides health universally, and it is usually believed in the United States that when universality comes that the discriminatory use of genetic information will go away. There are others who believe that employers will continue to be interested in genetic information, for example that produced on a pediatric age group or even on adults, and will use it in ways that may not be generally acceptable to potential employees. Do the Japanese have any information regarding employers being interested in this sort of information.

Kondo: Well with respect to AIDS, HIV infection, some of our companies secretly screen employees who return from abroad. Some infected carriers are called to the managers office, and are secretly told they are positive, and they are frightened, and they are told that they better resign from the company. Before coming here I discussed genetic tests with a medical director of a huge insurance company and he said that this trend of increasing use of genetic tests is welcome to them, because such tests give new clues for more accurate risk assessment. He explained the concept of substantive body with slightly increased risk, which can be accepted as insurees if the rate is raised, but he said 400% is the maximum, because payment is much higher than the money the insurance company receives.

Billings: May I just ask, about your AIDS testing example in the company. First, is the secret testing legal, and second why is the company concerned since they are not responsible for the health care costs of an AIDS patient, why are they interested?

Kondo: In this case prejudice, to avoid any unpleasant situation that may arise due to the presence of HIV positive employees.

Billings: And is it illegal to do secret testing?

Kondo: Well this is a controversial matter, of course it is ethically unacceptable but not punishable in this country right now. Any questions.

Macer: About the earlier question of genetic testing in Japan. I think that the opinion surveys that I have been doing, and also those of Dr's Hirayama, Fujiki, Osawa, suggest that the acceptance of genetic testing is at least as high as in the United States, where there have been more examples of the screening programmes of the type that Prof. Hamaguchi described. I think that there is a second problem, about the trust that he mentioned, I think that the data would suggest that there is less trust in doctors in Japan. If the trust of people is gained in doctors in Japan I would think that in those particular local areas, for example, perhaps in Fukui or perhaps in Tsukuba, and other areas where there are sufficient counseling services associated with the scientific testing service, then Japanese people are ready to accept the use of genetic tests.

Kondo: Thank you, Prof. Matsunaga.

Matsunaga: My question is addressed to Dr Nakahara who represented the general attitude of the Ministry of Health and Welfare in Japan admirably. As I noted last night, the term "genetics" in Japanese is attached with fatalism, and it is very difficult to use this term "genetics" in the public. As far as I know, Dr Nakahara mentioned about the genetic counseling program in Japan, but I think the initial genetic counseling program in Japan supported by the Ministry of Health and Welfare was called "family planning special programme", they didn't use the term "genetic counseling". Is that true, that at the present time they use the term "genetic counseling"?

Nakahara: At present we use the term "family planning: special planning project" to the treasury. However, when we talk to the public in cities, towns, or countryside, we use the term "genetic counseling". We don't use it in our information to the public but we do use it in interministerial communications.

Matsunaga: I feel that the public and social need for genetic counseling is increasing, and it becomes very high with the development of molecular genetics. So I think it is now time for the Minister of Health and Welfare to face the term "genetic counseling" and to push the programme more vigorously. What do you think, we are very much concerned about the future program of the Ministry of Health and Welfare?

Nakahara: I don't intend to represent the Ministry, I am fairly critical of the Ministry in some ways. I have tried to include this kind of counseling program in our activities, by your help, but there were many problems at that time. After that we've been trying to push this program and get some kind of administrative support, we've not had any special proposals for the Ministry to deal with this problem.. The program that has been implemented for the detection of innate diseases is I think extremely well diffused in Japan, up to 99% of neonates receive this test. So this kind of testing has been acceptable. But unless we could finally treat the diseases or onset in patients who have them, I think that it is difficult for us to encourage the spread of genetic tests in the same way. I have thought about this problem a lot. I would like to have the Ministry deal with this problem, but at present there is not plan for the Ministry to deal with this. At present they are just treating it as something to be researched into.

Matsunaga: Presently the Human Genome Project is progressing fast, and we are going to find many common diseases that have genetic factors. How are you are going to deal with the associated problems, please answer as an individual not as a representative of the Ministry.

Nakahara: I think we are still dealing with this in terms of surveys and research. There are ethical and social problems which have been pointed out, but efforts are being made to deal with human genome research in different places in the administration, for example in the Department of Science and Technology. I have asked people in these various departments, but at present they are not dealing concretely with any of these problems. They are still carrying out survey research on the adverse affects that might happen. I think this is all we can think and say at that moment.

Matsunaga: Does it mean you "follow" the research, and if any adverse effects happen you will do something?

Nakahara: You use the word "to follow", but it is also a researcher's task not to cause adverse effects. We are seeing whether there might be any adverse effects from this project. We are still researching this. At present our policy is to follow research, this is the history of how we deal with these problems. It is because we have to reconsider this attitude, and reflect on the past, that we have seminars such as this one. If human genome research can proceed backed up by this kind of ethical discussion we are having here, although there are many uncertain points, then I think that we can try to avoid any problems that may be brought about. And if that is so, the value we can find in going forward is still uncertain. The talks from America, New Zealand and Norway were, I think, very impressive but in Japan there is still not much social concern, and not so many see these problems.

Takebe: Considering the comments that we have just heard, I think that there is interest in these, but they are difficult problems. The problem is that there is no job called genetic counseling, it has no status. People think that if you are not a medical doctor you cannot do counseling, which is a big obstacle. From the papers of Prof.'s Tranoy and Macer, I was surprised that even in those countries with advanced social welfare, there is a need to reduce the budget for health care or welfare. So in those countries I wonder whether there is an open question of approving or accepting prenatal diagnosis and selective abortion, as a method for reducing the budget, is it openly or secretly discussed? I wish to ask, because that is a very difficult question to discuss in Japan.

Kondo: That is a question directed to whom?

Takebe: Prof.'s Tranoy and Macer.

Tranoy: The issue of prenatal diagnosis followed by selective abortion is very openly discussed in Norway, both among politicians in parliament and in the press. It is as I think I tried to say, a very sensitive question, Norway is by far the most restrictive of the Nordic countries when it comes to selective abortion. But there is full openness in the press and in other publications.

Macer: Briefly, I don't think it is discussed very much in Australasia, it is just practised. The medical services are generally free for a termination of pregnancy for reasons of fetal handicap, it is completely free and it can be done in public hospitals, with a limit of 22 weeks gestation in New Zealand. This limit is less than in the UK, where the general limit is 28 weeks, but for fetal handicap there is no limit. I think there is probably more economic discussion of this issue in the UK than in Australasia.

Tranoy: If I can add, Norway is a country of 4 million people. The general capacity set by parliament for prenatal diagnosis is 1500 by amniocentesis. We can compare to the Danish figure, a population of 5 million and a capacity of 7-8,000 amniocentesis per year.

Osawa: I would like to ask what Prof. Matsunaga and others asked about. Amongst the research supported by the Ministry of Health and Welfare, and Ministry of Education?, I have been cooperating with them on research I will talk about later in the seminar. But I have been told that my funds may be cut off next year, but I'd like you to please continue funding me. We talked about the advising research of this policy, but there has been a lot of information about the human genome research released on television and in newspapers. Often we have telephone calls from the general public, like "I'm going to be married, but among my relatives one has epilepsy. I've been told that if you look at my genes you can tell whether I will develop the disease or not. I'd like you to inform me." We often have telephone calls or consultations like this, even from doctors. So we can say that not just for the general public but also doctors as well there is a lot of lack of knowledge about genetics. Even in medical schools there are often no genetics courses, so we need to include courses on medical genetics in medical schools to educate doctors. We have given a lot of information to the public but we need to have an organisation or a method of giving them accurate information, to dispel any misinterpretations that they may have.

Shoji: I'd like to ask Dr. Nakahara two things. You said that the administration at present does not feel that there is any special need to develop administrative methods to deal with the problems of genetic counseling or testing. I think that this is the opinion of the person responsible inside the administration, or the people overseeing them in parliament, rather than your opinion. But, I think that we do need some guidance. At present all the bioethics committees are dealing with these bioethical problems arising from genetic testing individually, but we need a kind of guidelines or some committee to be set up by the Ministry to deal with these from an overall point of view, or to publish a carefully considered report to set up guidelines. It may be inappropriate to ask Dr Nakahara about this, but I'd like to ask about the distribution of the genome research budget for ELSI issues. On the Ministry of Education side only 1% of the budget is for ELSI issues, compared to 3-5% in the United States. In the Ministry of Health and Welfare you are paying for some surveys, but what public offices or research organisations should have responsibility for the distribution of the budgets dealing with this kind of subjects and surveys or research?

Kondo: This is an international seminar so we don't want to become too involved in Japanese domestic problems. Dr Nakahara, you do not need to answer. Are there any other comments from a general point of view?

Clarke: I'd like to go back to part of the discussion after Prof. Tranoy's contribution this morning, when we were asked whether there was any difference in genetic counseling if it was offered at the individual level, such as giving genetic counseling services to individual families, compared to public health or a benign eugenic point of trying to reduce the incidence of genetic disease. I've been thinking about that a little, and one way of drawing a distinction between the two is to look at how you judge the effectiveness of the program, and if you are retaining the individual choice perspective, you judge the effectiveness of your program in terms of how many couples, families or individuals are offered genetic counseling and make an informed decision. If you are chosing the public health perspective you are going to measure the performance of your program by the birth incidence of the disorder, which prejudges the outcome of the decisions that are being made by people. So that on the individual side you do not judge the effectiveness by the decisions made, but by the fact that informed decisions have been made. On the public health approach you do use the birth incidence to judge the effectiveness of the program. So that there could be subtle, or even not so subtle, pressures on the health care professionals to influence the decisions made by the families to reduce the birth incidence of the disorder. I think that is one possible answer to the point made this morning.

Kondo: Thank you, would you like any specific answer?

Clarke: I'm interested in other people's comments.

Kondo: Unfortunately we need to have a break for lunch now, and Dr Nishimi will present her paper after lunch.


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