pp. 439-444 in
Bioethics in Asia
Editors: Norio Fujiki and Darryl R. J. Macer, Ph.D.
Eubios Ethics Institute
Copyright 2000, Eubios Ethics Institute
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F30. On the Draft of the Proposed WHO Guidelines on Ethical Issues in Medical Genetics and the Provision of Genetics Services
The Parents' Association of Children with Malformation in Extremities, Japan
I am a parent of 25-year-old daughter with a congenital malformation (defect of the right hand fingers) and have participated in the activity of the Parents' Association of Children with Malformation in Extremities for more than 20 years. Bringing up my daughter suffered prejudices and discrimination against congenital or hereditary disorders which have persistently remained in Japanese society. At the same time I have thought about various problems in medical treatments as a member of a family with a disabled person. Needless to say, I am deeply interested in which direction gene therapy is going.
I recently read a Japanese version of the draft proposed WHO "Guidelines on Ethical Issues in Medical Genetics and the Provision of Genetics Services" in 1995. If these are to be really significant guidelines to determine the future orientation of medical genetics, it is not sufficient for the draft to be discussed exclusively among medical experts before it reaches a final version. Attention should be paid to the opinions and suggestions from those who receive treatment: patients and their families. The following is my sincere, honest impression and opinion on he Draft from the point of view of one concerned and layperson.
1. Sufficient Time Should Be Allotted to Discussion of the Draft from Different Angles
First of all the proposed guidelines are surprisingly long. Frankly speaking, to laypersons or those not concerned, it is also very difficult to understand the contents. Furthermore, it deals with ethical problems in the clinical application of medical genetics and discusses in detail how to handle them; but we recipients cannot help but feel a coercive pressure depriving us of any way out or escape as well as an anxiety about our life falling into others' hands.
This draft will be an official WHO document, and as such will greatly influence medical treatment in every nation. Before the final authorization, we should have discussion about it among experts, patients and their families, and many others who are deeply concerned with genetic medicine.
Some clinical geneticists in children's hospitals in Japan translated this draft into Japanese. Many people interested in medical genetics are going to read it hereafter as the Japanese version of the draft WHO Proposed Guidelines. But strictly speaking, this is still no more than a draft and needs further examination and argument from various points of view. Is it not dangerous to regard and handle it as if it were already accepted and authorized?
2. Prevention is not Eugenics?
It is stated in Part I that the goals of medical genetics are "the diagnosis, treatment and prevention of hereditary disorders...Prevention includes prevention of damage to genes or chromosomes arising from environmental or occupational exposures to mutagens, avoidance of conception, use of donor gametes, or prenatal diagnosis and genetic abortion" (I.1.1). The section entitled Medical Genetics versus Eugenics, stresses decisive differences between present-day medical genetics and past eugenics, stating "Genetic enhancement ('positive eugenics') should not be undertaken" (I.3.4).
The impression I get from the entire draft guidelines, however, is that the basic view seems to link heredity with 'harm'-the phrases such as "high risk of serious harm" or "avoid harm to self or others" denote it (I.2.1). Thus I cannot help but think that their main theme is the eradication of genetic diseases. The draft guidelines say that prevention does not mean elimination of certain people according to the eugenic principle; because whatever reproductive decision is made voluntarily by those concerned, and therefore the best (I.1.3.4, 4.1 et al.). But this very autonomous decision making by those concerned has not been clearly established in all the nations yet, so that I continue to remain anxious.
Prevention also entails a delicate problem suggested by the words "In the future, it may be difficult to draw a line between efforts to eliminate common disease and genetic enhancement of so called 'desirable' human characteristics" (I.3.4). In the future, medicine is said to move from the age of therapy to the age of prevention. Accordingly, if genetic diagnosis is to prevail along with advancement of the Human Genome Project, and carrier screening is to be done and taken for granted, 'medical genetics and eugenics' must be regarded as a major issue. Nevertheless, I cannot but say the draft guidelines seem to deal with this important theme merely as a supplementary one.
3. Gap between Public Views of Heredity and Genetics Services
According to recent newspapers, genetic diagnosis is being put into practice at more than 70 facilities, such as pediatric departments and internal-neurological departments at university hospitals, national hospitals, and clinical research institutions; and, if we add commercial laboratories contracting from medical institutions, they all indicate that genetic diagnosis is spreading more swiftly than expected. Progress of the Human Genome Project seems to be directly linked to the introduction and prevalence of genetic diagnostic techniques.
However, we must pay attention to the fact that it is not a change in public understanding of genetic disease that is spreading a new diagnostic technique, i.e. genetic diagnosis. Rather, ordinary people, including myself, have not severed traditional views on heredity yet, and are totally confused at the appearance of this new medical technique not knowing what to do.
The word 'heredity' in Japanese has traditionally denoted passing on physical or mental incurable disorder or disease from parents to children, generation to generation. It has carried negative connotation. To my regret, 'heredity' still sounds very grave. 'Heredity' is something dreadful. When a baby is born with some congenital disease, it is not unusual to be asked whether the condition is hereditary or not, no matter what kind of disease or disability it is. In our cultural background hereditary disease have been regarded as 'something shameful for the family' or 'something revealing the dirty blood in the line of descent'; so that we have tried to hide them completely from society. In a sense 'hereditary diseases' have been cursed, abhorred diseases.
Now suddenly we hear that a hereditary disease is caused by a defect in a gene and not by 'evil blood'; however, for many people, 'heredity' and a scientific 'gene' still evoke different images. Discrimination against genetic disorders may well stem from unscientific prejudice mentioned above, but until now we have never been provided with any education or training to bridge the gap.
Given this situation, what kind of achievement can we expect genetics services to make, if its system develops without corresponding change in public knowledge? First of all, what on earth is its 'achievement'? ( I do not think achievement means just eradicating hereditary diseases.) To make matters worse, Japan has few experts of genetics services. Therefore once these services started, we will see those who, without knowing, will be diagnosed, informed, worried, and forced to change their life plans.
I am afraid that the provision of genetics services in these proposed guidelines stated as a health care system bring the danger of leading to life-long genetic control of an individual. Even if not done coercively, many people may suffer threat from outside pressure and feel repulsive against it. "Genetic services, including newborn screening, carrier testing, providing special diets...prenatal diagnosis, abortion of affected fetuses, and treatment should be included in national health care systems" I.5.1). This sounds strange and awkward to me. I really think we need to start discussion as soon as possible on what kinds of genetics services should be implemented in Japan.
4. Questions about Disclosure of Genetic Information as Steps for Public Health
Part II of the Draft discusses so many serious one after, such as genetic counseling, informed consent, prenatal diagnosis, preimplantation diagnosis, gene therapy, etc., that I have to strain very hard to follow the argument. It makes me feel really doubtful whether we should be allowed to conclude such important issues without sufficient discussion and debate.
The proposed guidelines on genetic counseling stated in Tables 3 and 4 (II.2.1) are mostly acceptable except for a few points: "If one's genetic status passes a danger to others, disclosure to the relevant authorities in the interests of protecting public health"; and "If counselee will not disclose and the risk is high, the geneticist should inform authorities" (II.2.1), etc.
What is meant by 'danger or risk to public health' is not explained here, but it is said that counselee should be informed that his/her private genetic information is to be disclosed to the relevant authorities on account of its risk, if necessary. But judging from its basic idea, can the concept of public health for the sake of community members be really compatible with genetic medicine? How do they protect privacy or fundamental human rights of an individual while disclosing his/her knowing; and its results an be informed to the relevant authorities. How can we ordinary citizens prevent this situation? If achievements of medical genetics should be utilized as measures of public health without any protecting steps, I am afraid that they will be none other than dangerous eugenic measures. I fear that this Draft will be authorized as the WHO Guidelines, with these serious issues left unsolved and without any restrictions.
5. Issue of Disclosure and Confidentiality
The Preface of the Draft states "Within the next decade, newborn screening, carrier screening, and screening for common disorders...will greatly increase the role of genetics within medical services". It is said that screening does not provide a definitive diagnosis but is a preliminary procedure (cf.II.6.1.1). However, we are now in the age of preventive medicine in which even premarital screening for carrier status should be encouraged (cf.II.6.6). Therefore, we are, whether we like it or not, forced to be confronted with the issue of disclosure and confidentiality of genetic information. "In genetics, the true patient is a family with a shared genetic heritage" (II.7.2.2)/ "Genetic information is both uniquely individual and the shared property of families" (ibid). Results of genetic tests become a problem which involves the whole family and relatives! It is also stated that informing the results to family and relatives is a moral obligation (ibid). Moreover, it is clearly mentioned that geneticists may override individual confidentiality and warn other family members about the risk under certain conditions (ibid).
Regarding these problems, it is sometimes best to assess each case separately, instead of setting a dangerous uniform guideline for all cases, if we consider the delicate human relationships in a family. Also I think our right not to know about our genetic information should be warranted as well as the right to know. I really do not know how to deal with the anxiety that some part of my future life might be foreseen as the result of prevailing presymptomatic testing or carrier testing. Is it only me who finds it upsetting that my own future might be determined by others?
The Draft even says "In the future, laws should be revised to reflect the shared nature of genetic information while protecting the privacy of individuals" (ibid). This issue also needs thorough discussion. I would rather say that, instead of that legal process, we should provide laws to prevent a leak of an individual's test results from causing any discrimination against him/her with employment or health insurance.
As seen above, genetic medicine demands us to deal with such problems as we have never experienced before. Sine this is the fact, sufficient explanation on each point has to be presented clearly to the public. I do not think that this means to enlighten ordinary citizens. But I hope that this will guarantee a shared basis for discussion in order to reach a social consensus on these issues.
6. Prenatal Diagnosis and Genetic Abortion
The latter half of Part II handles extremely up-to-date medical techniques such as presymptomatic testing, prenatal diagnosis, preimplantation diagnosis, gene therapy, etc. It also refers to prenatal diagnosis which does not make abortion a precondition. But its basis tones are: genetic abortion to prevent serious genetic disorders are ethically permitted; and the final decision should be done by the woman.
But I do not think it is possible to allow the choice of abortion by law for whatever reason nor do I think it should be done so; because each nation has its own unique background arising from its differences in religion, living habits and ethnic customs concerning gender.
Speaking about Japan, the Eugenic Protection Act, i.e. the primary origin of bias and discrimination against people with disabilities and hereditary diseases, was abolished in 1996. The maternal Body Protection Act took its place, but immediately some doctors claimed that it should be clearly noted in the Maternal Body Protection Act that abortion be allowed in the case of fertus7s fatal defects. This arouse a vehement protest movement, proclaiming it would be a reversion to the Eugenic protection Act and deny women's right of autonomous decision making. The Japan Society of Obstetrics and Gynecology and the Japan Society of Human Genetics were required to join the discussion with citizen's groups who had handed a protest to them; and this discussion is still continuing.
Thus, also in Japan, issues like genetic diagnosis, prenatal diagnosis and abortion have not been thoroughly discussed yet.
I too oppose legislation to determine whether abortion on the ground of prenatal testing or its results is right or wrong. This is because, by that legislation, I am afraid lest lives with hereditary disease or birth disorders be treated as if they were not entitled to be born or to live. Besides the definition of the word "serious", which is often used, is not specific (cf.II.12.4.1). Moreover, whereas issues of improvement and enhancement of social support and welfare services for children with disabilities are neglected, issues of responsibility of their families or social cost for medical expenses are stressed: I cannot understand this attitude.
Again, between advanced nations and developing nations, problems of population, women's social status and views on human rights are not the same but extremely diverse. Given this condition, it seems quite impossible to orient clinical application of reproductive technique or provision of genetic services toward a certain direction by setting up the guidelines.
I really want to ask how these proposed guidelines were prepared. Did the participants in the preparation really represent various groups, fields and backgrounds? Did they truly consider the different situation in each nation? How deep and through were the discussion done? Particularly in Japan these points will be important issues.
7. Promotion of Research with Ethical Issues Left Unsolved
The Draft examines in detail various ethical issues involved in medical genetics. However, it cannot but give an impression that, in order to accelerate the research program, constraints which had previously defined the boundaries of the research seem to have been to easily relaxed. It suggests that research using fetus or embryo be permitted if it is done to develop new controlling drugs for the expression of defective genes, and to make a better results in gene therapy (cf.II.18.3); and this justification for embryo research rests on its contribution to pediatric oncology and gene therapy for hereditary diseases (cf.II.18.4). Research seems to have priority over ethics.
"Some disorders literally begin in the embryonic state or very early after implantation. Categorical rejection of research, simply because it may occur in the fetus or embryo, is a reaction primarily from fear rather than rational assessment...Closing offal avenue or research...offers little benefit and promotes both social inequality and scientific hypocrisy (II.18.3). "It will be necessary to obtain sperm and eggs from parents who are at higher risk transmit these conditions to offspring, and to study the genetic mechanism involved compared to those in 'normal' embryos. Thus, restricting embryo research only to spare embryos donated after infertility treatment will not be sufficient...It must be pointed out how illogical and morally self-defeating it is for societies to forbid all research with human embryos and then to require them to be discarded at the end of a time period after freezing" (II.18.4). To these strong arguments, another is added regarding the use of fetal tissue, stating it should be allowed under certain conditions (cf.II.18.5).
What is stated above suggests, that although there are ethical problems involved, research should be undertaken without delay. But these profound discussion with careful consideration. Why is such urgency necessary? There might in the background, be a question of the competition to obtain patents since gene industries have gotten involved in these issues. But still these statements reveal a strong desire to eliminate hereditary diseases and an attitude of valuing good health above all else. According to this view, hereditary disease or birth disorders should be eradicated. It is true that n not a few cases patients cannot escape from sufferings, though the extent of the suffering differs individually. However, as long as human beings continue to live, hereditary diseases will exist. And if this is a natural human phenomenon, there should be an alternative, namely co-existence with hereditary diseases.
This perception derives from very deep-seated attitude among Japanese people regarding the position of the human being in the natural world. For the Japanese, more than for the Westerners, the very concept of 'nature' is per se endowed in all its aspects with a positive value. It is not something that the human being should conquer; but something the human being should live in harmony with. Therefore, for the Japanese to disrupt natural processes would be questioned more than for those from Western cultures. This attitude which comes from our cultural background should not be neglected but highly respected.
8. Anonymity and Informed Consent
"Researchers and government health departments should be permitted to conduct anonymous testing or screening on the general population in order to establish the prevalence of genetic anomalies and deleterious genes. Because the testing or screening is anonymous, it does not require informed consent" (II.20). Whether anonymous or not, epidemiological testing requires previous informed consent. The patient should be fully apprised of the purposes and methods, and consent to disclosure of the test results. The most private genetic information should never be utilized without notice and permission of the person tested.
Some time ago, when the Maternal and Child Health Care Act underwent amendment, the Ministry of Health and Welfare tried to institute a monitoring system for newborns. The Parents' Association of Children with Malformations in Extremities examined this step from different angles. We came to a conclusion: the recommendation for a monitory system in the Act risked bringing about discrimination against people with disabilities, and violation of human rights; and even if testing was anonymous, it would entail legal problems regarding the protection of privacy. Therefore we submitted a statement to the Minister to the effect that we opposed the amendment of the Maternal and Child Health Care Act on the issue of introducing a 'Newborns monitoring system' (cf. "On Inquiry into the Causes of Congenital Disorders" Newsletter of the Parents' Association no.5,1986).
Regarding issues relating to DNA storage and access to stored DNA, careful consideration and establishment of a system of informed consent are required. The Draft says: DNA is not only the private property of one individual but a shared property; and, therefore, access to it should be allowed (cf.II.19). This may not sound strange to experts and researchers of medical genetics; but laypersons who are actually experiencing these genetic problems in their everyday life take it quite differently, and this fact should not be neglected.
Thus far I have stated my opinions about the ethical problems of medical genetics and the issues arising from the practice of genetics services. Genetic counseling is treated in detail in this Draft as the most essential aspect of genetic services. However, speaking of the actual situation in Japan, we are just about to start intensive training for genetic counselors. The counseling profession in Japan is still in its infancy. This is the environment in which genetic diagnosis is now increasing. Therefore I cannot but say that there are still too many problems to solve, such as problems of the disclosure of test results, the provision of a follow-up system for the suffering or agonizing patient and his/her family, the control of genetic information to protect the rights of the patient, etc. For these reasons I am truly afraid lest this Draft be discussed only among experts of medial genetics before being authorized as the WHO's Guidelines.
The issues arising from Human Genome Project and accompanying questions regarding the protection of human rights are brought about by the progress of medical science, and are new concepts unfamiliar to most people. And this is the very reason why sufficient time should be allotted to discussion of this problem in order to obtain a social consensus. First of all we must check how various genetics services mentioned in the proposed guidelines will function when counseling becomes available; and we have to examine whether they are suitable to the actual situation in Japan.
It is repeatedly stressed that genetics services should not be provided coercively, and that genetic counseling should not be directive. And yet, frankly speaking, I suspect that the Guidelines suggest a grand family-plan project: that is, a project for the eradication of hereditary disease.
It is when we admit the genetic diversity of humanity that we can protect the human rights of an individual. Whatever genetic characteristics a person has, his/her human dignity and rights should be protected. In medical genetics, too, genetics services should be provided in the framework of this essential and fundamental understanding; and they should never encourage the idea of eliminating hereditary diseases from society as if they were some form of evil.
I sincerely hope genetic medicine will respect the genetic diversity of the individual person and protect the rights and happiness of the weak.
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