.4. New developments in the ethical discussion on prenatal diagnosis in Germany
pp. 91-94 in
Bioethics and the Impact of Human Genome Research in the 21st Century
Author: Friedrich Vogel (University of Heidelberg, Germany)Editors: Norio Fujiki, Masakatu Sudo, and Darryl R. J. Macer
Eubios Ethics Institute
Copyright 2001, Eubios Ethics Institute
All commercial rights reserved. This publication may be reproduced for limited educational or academic use, however please enquire with the author.
In the ethical discussion in Germany on prenatal diagnosis, controversies on preimplantation diagnosis in zygotes produced by in-vitro fertilization are prevailing to date. on the one hand, medical geneticists as well as many obstetricians stress the big advantages of genetic diagnosis already at the early stages of development since it helps in avoiding induced abortions in later stages of pregnancy. Moreover, the success rate of in-vitro fertilization could be increased by eliminating aneuploid zygotes. On the other hand, many people are arguing that even a totipotent cell - or an early zygote consisting of such totipotent cells - is a potentially complete human individual. Therefore, it is unethical to destroy it even if it is affected by a severe genetic anomaly. The latter viewpoint is supported legally by the "Embryonen-Schutzgesetz" in which experiments or manipulations on human zygotes and embryos that are not performed to improve the health of that very embryo are strictly prohibited. On the other hand, artificial abortion of a pregnancy is not being punished for social reasons, within the first three months, and for medical reasons (health hazard of the -mother, including severe defects of the embryo) even up to birth. This internal contradiction is now under controversial discussion; in the conference, I shall give a detailed report on arguments and possible solutions.
The progress in our knowledge on structure and function of the human genome has raised fundamental ethical questions. They are being discussed all over the world at various levels - from the religious and philosophical values basic for our lives down to the practical, every-day problems encountered by the medical geneticists 'in their daily attempts at helping families with increased risks for genetic diseases. The scientific community of human geneticists in my country Germany - has been keenly aware of these problems for many decades - at least since the early 1960les when a number of new human genetics institutes were founded in our medical faculties, and the first families asking for genetic counseling approached these institutes (1). Ethical problems became more urgent in about 1970 when prenatal diagnosis was introduced for an increasing number of genetic anomalies and diseases. When a sufficiently severe anomaly was diagnosed for which no satisfactory treatment was available, artificial pregnancy termination was legally possible and regulated by law. But there were a number of conditions:
1.) The anomaly had to be so serious that continuation of the pregnancy would constitute a severe load for the mother.
2.) Even in these instances, the mother herself had to demand termination (not, for example, her doctor).
The family - and especially the mother - had to be informed on every detail of the anomaly, and the load imposed by it on herself the child, and the family. No pregnancy termination for this reason without genetic counseling.
Even under those conditions, the law permitted termination in such cases only up to the 20th week of pregnancy,-"embryopathic indication" - whereas termination was permitted up to birth when there was immediate danger for health and life of the mother (,,Maternal indication"). In 1995, this law was changed (2), and the "embryopathic indication" was removed entirely. The legislator wished to avoid any suspicion that a "eugenic" program was planned. Instead, genetic anomalies were included in the, maternal indication"; they were regarded as a severe load for the mother's health. This had the big disadvantage that the limit of the 20th week does not exist any more: Theoretically, pregnancy termination when a genetic anomaly has been diagnosed is now legal up to birth. The ethics committee of our human genetics society has recommended to its members that the 20th week should be maintained but there is no legal way to enforce it. On the other hand, pregnancy termination for other, for example, social or economic reasons is not punishable up to the 12th week provided that the woman has seen before a licensed counseling service.
You should have these regulations in the back of your minds in order to understand the recent discussions about gene therapy on early zygotes, and on preimplantation diagnosis (2). At present, these issues are being regulated by the ,,Embryonen-Schutzgesetz" (embryo protection law) of 1991. According to this law, a human zygote in its first stages after fertilization - and even a single totipotent cell within such an embryo - is regarded as a potential human individual, and enjoys full protection guaranteed by our constitution. This has a number of consequences:
1) Whereas there are no principal ethical problems with gene therapy at somatic cells, which are not totipotent, attempts at gene therapy on germ cells and early zygotes are prohibited. Personally, I have no objection against this limitation, -since such gene therapy is unnecessary 'in almost all cases, when disease should be avoided: Genes causing hereditary diseases follow Mendel's laws. For example, when both members of a couple are heterozygous for a gene causing a severe genetic disease in homozygotes, only 25% of their offspring are expected to be homozygous and affected. Therefore, in vitro fertilization and molecular diagnosis is necessary anyway before gene therapy. Obviously, it would be much easier to abandon this zygote, and to select another, normal one for implantation. The situation is different when it is planned to improve a normal zygote, for example, by introducing a gene that may enhance cognitive abilities or longevity.
Fortunately, such genes are not known at present- therefore, such attempts would be futile anyway. But such genes will undoubtedly be discovered - and probably very soon. How should we decide when they will be known, and - especially when a safe procedure for their implantation will be developed?- This is a difficult question. I myself am definitely against such attempts; but how will others decide, let us say, 10 or 20 years from now? In Germany, the law prohibits any research on human embryos, unless these experiments are performed to improve the condition of this very embryo. But what will happen if such studies are performed in a foreign country, and the techniques are then imported, or interested families are going into a country where such procedures are permitted?
2) But let us turn now to a more immediate problem: As mentioned before, gene therapy on young zygotes requires in-vitro fertilization and, subsequently, preimplantation diagnosis (3). But since methods for in-vitro fertilization are well developed, preimplantation diagnosis offers itself in such cases as an obvious alternative for prenatal diagnosis during pregnancy by amniocentesis or chorionic villous sampling. The big advantage would be that artificial abortion in mid pregnancy would be avoided. In my opinion, it is the first requirement of any medical action that human suffering is reduced as much as possible. But in an embryo at the age of, let us say, 12 to 20 weeks, the Central Nervous System is already fairly well developed. Therefore, this embryo will suffer pain and distress during pregnancy termination,- at least up to a certain degree;- not even to talk about the severe psychological stress for the mother. On the other hand, a zygote with - let us say - 4 or 8 cells will certainly not suffer. Therefore, it would be a big advantage, if pregnancy termination up to the 20th week could be replaced by preimplantation diagnosis. At the moment, this is obviously only feasible in cases where in vitro fertilization is indicated anyway;- but in future, when the success rate of this method will be increased close to 100% of implanted zygotes, this could apply to all instances with an indication for prenatal diagnosis. Following this way of thinking, the German "Arztekammer", the professional representation of all German physicians. has proposed to our parliament a change of the Embryo Protection Law: Preimplantation diagnosis should be permitted under severely restricted conditions (4): For example, if both parents have been diagnosed as heterozygotes for a severe autosomal recessive disease, preimplantation diagnosis should be possible, and homozygous zygotes could be abandoned. To date, this change of the existing law has not been submitted formally to the parliament but in the moment, I am regarding its chances for getting a majority fairly slim; many of the representatives of the leading political parties,- Social Democrats and the Green Party,- appear to be against this change (5). They are supported by a substantial part of the general public,-for example, groups of handicapped people who are afraid of an increasing discrimination of the handicapped. In my opinion, this is an error: Despite all our attempts at reducing handicaps, and, at the same time, avoiding human suffering, there will always be people who will suffer from genetic diseases, malformations,- and other handicaps. In my opinion, a smaller number of such people will not reduce their acceptance in the society at large; it may even increase public sympathy. But still, chances for acceptance of a legal change are slim.
According to my personal opinion, the change of the law proposed by our "_rztekammer" does not even go far enough: For example, we all know that the percentage of chromosomal aneuploidies in zygotes after in vitro fertilization is high( about 10-20%). This is not so different from the traction of aneuploidies in normally fertilized zygotes. It has been well known for many years that these aneuploidies are responsible for many spontaneous abortions. On the other hand. the success rate of in vitro fertilization is still unsatisfactory even in the hands of very experienced physicians ( about 26%;6),- leading to severe disappointment in couples who wish to have a child of their own. Wouldn't it be the obvious consequence of this unsatisfactory situation to perform chromosome studies in all zygotes produced by in vitro fertilization', and to implant only zygotes with normal chromosome complements? At present, amniocentesis or chorionic villous sampling are being performed anyway in a high fraction of pregnancies initiated by in vitro fertilization; for example, many women on which this procedure is being performed are older than 5 years; the limit above which prenatal diagnosis is conventionally recommended (7).
At present, however, there is practically no chance that the legislator will permit this - in my opinion- logical way of action. A common argument against it is the well-known, "slippery slope" argument: The protection of the human embryo will be diminished step by step until the embryo will be free for any kind of experimentation. I understand this argument: We have to be very careful not to violate human dignity that must be attributed to human beings even in the earliest state of their existence. But it is pointless to insist on theoretical principles if this insistence will lead to severe limitations of practical action in medicine, and consequently, to increased suffering of human beings.
At present, however, we have to live in Germany with a severe legal -and ethical - contradiction: Pregnancy termination even for social and economic reasons is not liable to punishment up to the 12th week of pregnancy despite the fact that most of these embryos are healthy and fully viable. The only precondition is that these women have to see a family counseling service before. On the other hand, preimplantation diagnosis is prohibited since even the single totipotent embryonic cell is regarded as a potential human being that should not be touched. Obviously, two lines of argument are crossing here: On the one hand, the woman should be autonomous 'in deciding about her pregnancy. Her freedom of decision should be limited as little, as ever possible. On the other hand, the human zygote or embryo - a human being right from the beginning - should be protected against unethical activities of experimenters who (supposedly) only have their scientific success in mind. In my opinion, both problems should ― and could - be solved in a reasonable, and less contradictory, way. An argument has been brought forward recently by a prominent German gynecologist (6). He pointed out that cells in the 8 cell stage are very probably pluripotent but not totipotent. Hence, it should be legal to use them diagnostically, since the embryo protection law does not apply. I ward recently by a prominent German gynecologist (6). He pointed out that cells in the 8 cell stage are very probably pluripotent but not totipotent. Hence, it should be legal to use them diagnostically, since the embryo protection law does not apply. am curious to hear how this problem is being solved in other countries - for example, in Japan.
A second, similar problem that is being discussed increasingly is the problem of stem cell transplantation - mainly from human embryos. This problem has been surveyed recently by Traute Schroeder-Kurth, a former colleague of mine at Heidelberg University (8). It is very well known that somatic stem cells especially those from the hematopoietic system - are useful, for example, within the treatment plan for leukemias. At present, however, use of embryonic stem cells is being proposed for a number of diseases - especially those of the Central Nervous System, for example, Parkinson disease. So far, however, this does not yet belong to the field of medical genetics. But I hope that it will be discussed within other contexts during this conference.
Obviously, many other ethical problems come into mind when we think of the possibilities offered by recent progress in human genetics - including human molecular biology -and by the problems posed during our daily work in medical genetics and genetic counseling. I only mention our recent methods for identifying high-risk individuals for an increasing number of diseases,- for example various types of cancer. I only mention intestinal cancer with or without polyposis coli, or breast cancer (7;9). Which way of action - and which alternatives -do we recommend to our clients? Whereas preventive removal of the colon is being practiced successfully in popyposis coli, it would hardly be an acceptable strategy to recommend to a woman amputation of her breasts. Here, frequent medical examination appears to be the only ethically admissible alternative. Improved diagnosis of individual liabilities for certain diseases raises a number of other questions: For example, should health insurance companies be allowed to restrict acceptance to "low risk" persons, since they want to offer low premiums? Or should employers wanting to hire a new employee be allowed to ask for some kind of genetic certificate (10)? All these problems need discussions inside societies but also between societies with different cultural traditions.
I am aware of all these problems. But I decided to use the few minutes available to me to concentrate on preimplantation diagnosis- mainly because it is being discussed in a controversial way in the German society. This controversial discussion leads me to some insights and conclusions:
1) It is obvious that some ethically inadmissible practices should be prohibited by law (4). But the decision which practices are inadmissible depends on a certain amount of consensus within the society. If this consensus does not exist, - and if public opinion is controversial and logically contradictory, we should not be surprised if also the law will become logically contradictory.
2) Often, such contradictions are caused by incomplete knowledge of scientific facts and possibilities. It is our duty as scientists and physicians to help in the information of people - especially to inform the "opinion leaders" 'in our societies such as politicians and journalists about possibilities and limitations of our science,- and to help them in avoiding two opposite mistakes:
On the one hand, we should avoid too optimistic promises on future opportunities for practical applications of our fast increasing knowledge. Here, ethical reflections and restraints are urgently needed. In some instances, we even should suggest to our legislatures legal measures. Certainly not everything that could be done should be done. On the other hand, however, we should also avoid to anxiously shrink away from any new possibilities of applying our knowledge for obvious improvements of the well-being of our clients and the society at large. In the present public discussion within my country, Germany, the second mistake appears to be more imminent and dangerous than the first one.
Selected bibliography
1) See W.Fuhnnann & F.Vogel (1985) Genetische Familienberatung (2japan.Auflage, _bersetzt von T. Tsuboi, Nicbimura Co., Japan).
2) Schroeder-Kurth,T.M. (I 998) Pro und Contra Keimbahntherapie und Keiinbahmnanipulation. Heidelberger Jahrbiicher 42, 143 ― 163.
3) Scbroeder-Kurth, T.M. (1999) Stand der Priiimplantationsdiagnostik aus Sicht der Humangenetik. Ethik Med. 11, 545―54.
4) Diskussionsentw-u-rf zu ei-ner Richtlinie zur Pr'a'implantationsdiagnostik-. Dtsch._rzteblatt 2000, Vol.97, C-423-426.
5) Riedel U (2000) Pliidover ftir eine unvoremgenonnnene offene Debatte. Dtsch._rzteblatt 97, C-470―1.
6) Hepp H (2000) Pr'a'impla-ntationsdiagtiostik - medizinische, ethische und rechtliche Aspekte. Dtsch._rzteblatt 97, C-930 - 937
7) Vogel F.& Motulskv A.G. (1997) Human Genetics. Problems and Approaches (3rd ed.) Berlin etc.: Springer Verlag.
8) Schroeder-Kurth,.T.M.(2000) Leitfrage 6: Welche M6gichkelten und Grenzen bestelien ftir die Gewinnung und Verwendung von embryonalen Stanunzellen: Medizinische und ethische Aspekte. BGM Symposium Fortpflanzungsmedizin in Deutschland (24.-26.5. 2000 Berlin; itn Druck).
9) Med.Genetik: Richtlinien und Stellungnahmen (1995; Zus.-Fassung 1998): Stellungnahine und Empfehlung zur Entdeckung des BrustkTebsgens BRCAI. pp. 33―5.
10) Vogel F (1996) Das Genom des Menschen und seine Analyse.Jahrb.Heidelberger Akad.d.Wissenschaften fiir 1996, pp. 57―70.
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