Preimplantation Genetic Diagnosis in Germany

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Preimplantation genetic diagnosis:
Germany allows the genetic screening of embryos generated in vitro
Members of the German parliament decided without regard to political party affiliation

More specific:

How is preimplantation genetic diagnosis made?

The main aspects of the new German law on PGD

Why a new legal regulation?

The way to the new law

Arguments against PGD

Arguments for PGD

PGD and the German constitution

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In Germany, preimplantation genetic diagnosis has officially become legal in December 2011. Before this, most experts supposed that the German law would prohibit the genetic examination of embryos outside the body of the mother to exclude genetic diseases of the beginning life. But a judgement of the Federal Court of Justice of July 2010 revealed that the German law did not hinder doctors from genetic screening of artificially produced embryos before transferring them to a woman. Politicians were stirred up by the court's decision and called for a regulation adopted by the parliament.

The political parties found that this subject was no matter of competition between the parties and so three proposals were made by members of the parliament belonging to different political parties. The successful initiative intended to allow preimplantation genetic diagnosis to avoid a pregnancy if a serious genetic illness is likely or if there is a high genetic probability of a stillbirth or a miscarriage. The second bill contained an absolute prohibition without any exceptions and the third bill intended to allow this genetic screening only if a parent has a genetic disposition that can produce a disorder of the embryo which with high probability causes a stillbirth or a miscarriage or the dead of the child within a year after birth.

Today, the modern reproductive medicine and the genetic progress make it possible to generate an embryo by artificial insemination in a test tube and further on to screen the developing cell structure for genetic disorders before transferring it to a woman's uterus. In these situations doctors and parents ask whether such an examination should be carried out, notably if one or both parents are carrier of a suspicious gene. If carried out, it is possible to exclude embryos with a genetic abnormality from transfer to the woman. But critics say that people do not have the right to interfere the natural creation process and that man must not select and terminate human life by biological characteristics. In the end, there may be the danger that more and more designer babies will be born because parents only want to have a child with certain attributes (including gender).

The extracorporeal generation of an embryo is a necessary prerequisite for the preimplantation diagnosis. In 1978, the first child generated outside the body of the mother was born in Great Britain. In Germany in 2009, 7,863 children were born that were generated by artificial insemination. The number had already been higher. In 2003, 18,726 artificially created newborn babies were counted in Germany (according to the annual report 2009 of the German IVF register). The explanation for this decline is that from 2004, the German public health insurance only pays for half of the costs of three attempts and only in case of married couples. Altogether 651,000 children were born in Germany in 2009. (Source: Press release of the German Federal Statistic office of 2010-05-17).

But apart from preimplantation diagnosis, the medical examination of nascent life is often practised. It is possible to look for disorders of the embryo by carrying out a amniocentesis or a chorionic villus sampling or a cordocentesis. In addition, an ultrasound scan can produce a clue for a genetic atypical development of the fetus. In the first three mentioned so-called invasive procedures material will be taken from the embryo or fetus and examined for genetic abnormalities. If such a genetic disorder has been discovered and if the continuation of the pregnancy is unacceptable, the German law allows an abortion. One has to say that in Germany, abortion is not generally allowed for eugenic reasons. The interruption of a pregnancy is only justified if the life or the physical or mental health of the pregnant woman is in danger. Apart from this, the German penalty code includes a regulation that the external element of the offence is not fulfilled if the pregnant woman wishes the abortion and has consulted an officially recognized advice centre three days before the procedure and if not more than twelve weeks have passed since conception. For supporters of the preimplantation genetic diagnosis the allowance of abortions is an argument for this examination method. It won't be consequent to expect under all circumstances the transfer of a cell with a genetic disorder but to allow the abortion afterwards.

The text of the German regulation on preimplantation genetic diagnosis (§ 3 a Embryonenschutzgesetz) can be found here (in German), or see the entire text of the German Act on the Protection of Embryos

PGD = preimplantation genetic diagnosis

How is the preimplantation genetic diagnosis made?

totipotent:
ability of cells to form an individual
pluripotent:
cells are no longer capable of building one organism

PGD =
preimplantation genetic diagnosis (in German abbreviated PID)

After the cell fusion outside the human body a blastocyst is produced. On the fifth day after the conjunction one or two cells can be taken from the outer cell group (called trophoblast) and a genetic diagnosis of this material can be carried out. Generally it would be possible to subtract material at an earlier stage of the cell development but the German law does not allow the cloning of embryos which means genetic diagnosis may only be made when the cell is pluripotent. Pluripotency means that one cell is no longer able to produce one organism. A blastocyst consists of 40 to 80 cells. During the embryo biopsy trophoblast cells that are no longer totipotent will be extracted. Throphoblast cells build the outer layer of the blastocyst and are deemed to built the embryonic part of the placenta later. A diagnosis carried out at this phase generally does not have harmful effects on the embryo. The German law also allows the biopsy after the eight cells phase before the blastocyst is created and the cell pile called blastomere is no longer totipotent.

Then the taken material can be analysed for genetic characteristics. There is a possibility of diagnostic errors because only a few cells can be used as test material which cannot be reproduced. Or, foreign DNA can dirty the genetic material or, the examination only affects one allele (an allele = various forms of one specific gene). A permanent numeric chromosomal defect can be identified in error due to a so called mosaicism. (Mosaicism = The embryo shows atypical different chromosome patterns. The organism consists of different genetic cells but the cells descend from the same inseminated egg cell.).

The aim of the examination is the proof of hereditary diseases or chromosomal anomalies. Theoretically it is possible to find out the gender or certain heritable traits. But the German law does not allow the gender choice during artificial insemination except to avoid the embryo of carrying a genetic disposition for Duchenne muscular dystrophy or a similar serious gender-related hereditary disease.

The German law also is against the production of saviour siblings that could serve as a stem cell donor after birth. In case of artificially generated embryos there is a high probability for finding a donor of stem cells that can be transferred to the ill brother or sister (HLA compatibility, HLA = human leukocyte antigen). In addition, it can be excluded that the donor has the same genetic defect. If this procedure were allowed, the embryo with the highest genetic similarity would be put into the uterus. Stem cells could be extracted from the cord blood or from the bone marrow of the newborn child. The HLA system of both children must resemble in order to avoid a defence reaction of the body.

Preimplantation genetic diagnosis has to be seen different from preconception diagnosis or prefertilisation diagnosis that make it possible to examine egg cells before unification with a sperm cell. Ova (female egg cells) build so called polar bodies during the meiotic division (meiosis is the division of the cell nucleus with halving the number of chromosomes). By polar body analysis, only female cells can be examined for genetic irregularities.

Why a new legal regulation?

From the early 1990ies on preimplantation genetic diagnosis is being carried out. In Germany, there was no regulation of this subject by law until the end of 2011. The German act on the protection of embryos (Embryonenschutzgesetz) contains regulations on embryo research and artificial insemination, but there were no specific regulations on the genetic examination of artificially generated embryos. There is another act on genetic testing (Gendiagnostikgesetz) which is only applicable on examinations during the pregnancy.

By judgement of 6 July 2010 the Federal Criminal Court ruled that the extraction of pluripotent cells from an in vitro generated embryo by the mean of blastocyst biopsy and the following examination of these cells for severe genetic disorders did not infringe the German criminal law. The judgement was caused by a doctor who had been conducting PGD and pressed charges against himself at the prosecutor's office.

In contrast to the position of this court, many legal experts assumed that PGD was prohibited by law. After the court's decision, many politicians called for an act of parliament.

The way to the new law

After the Federal Criminal Court's decision, it was clear that the future of the preimplantation genetic diagnosis was not an object of political quarrels between the political parties rather than a question of conscience. So the three different proposals (see above) found supporters in different parliamentary groups. The German parliament, the Bundestag, was finally debating on PGD on 7 July 2011. In the final vote, the most generous bill on PGD was adopted by 326 parliamentarians, 260 voted against this bill and 8 members of the Bundestag abstained. (Source: Plenary Protocol 17/120 Enclosures 2 and 13910 of the Bundestag). After signing by the German president the bill appeared in the German Law Gazette on 24 November 2011 and came into operation on 8 December 2011.

It is remarkable that 29 parliamentarians of the party "The Left" voted for an absolute prohibition of PGD although this party struggles for a non-criminalisation of abortions and emphasizes a woman's a right to self-determination whether to continue a pregnancy or not. (39 parliamentarians of "The Left" voted for the successful bill on a limited approval of PGD, 2 abstained).

The German National Ethics Council felt unable to express a clear vote for or against PGD. 13 members of this institution supported a limited allowance of PGD because the health protection of a woman spoke for it and PGD could be a mean to avoid a lawful abortion. In contrast, 11 members of the council rejected the bill because PGD was not ethically justified. One member spoke for the release of the PGD if used for the generation of viable embryos in case of precisely described indications. (Source: press release of the German Ethics Council of 2011-03-08). It is the obligation of the German Ethics Council to advise the German government and parliament on ethical questions, especially of the effects of life sciences.

In June 2011, the general assembly of the German chamber of doctors (Deutscher Ärztetag) voted for the PGD within narrow limits and only within clear rules of procedure. It must be the aim of the new regulation to help affected pairs to have a pregnancy with an embryo free of a genetic illness. In some cases the in-vitro-fertilisation with PGD is less problematic than a prenatal diagnosis followed by an abortion. PGD is not justified especially for the determination of the gender without any related illness or for the age of the parents or as a general mean of assisted reproduction, the doctors say. (Press release of the Ärztetag of 2011-06-01).

The German Academy of Sciences Leopoldina supported the restricted release of PGD if carried out on non-totipotent cells. The consequences of PGD should be considered in the same way as the consequences of prenatal diagnosis and abortions. The examination should only be used for the well-being of the couple and a severe genetic disease should not be excluded if it breaks out in later years. (Source: Press release of the Leopoldina of 2011-01-18).

Both the Protestant Churches and the Catholic Church in Germany are opposed to preimplantation genetic diagnosis. However, some members of the Council of the Evangelic Church in Germany (EKD) would consider PGD justifiable for the identification of viable embryos if the parents had a genetic disposition that would make the embryo unviable during the pregnancy. Such parents should be accompanied and supported in an adequate way and an abuse of the so opened way should be excluded. (Source: Press release of the Rat der EKD of 2011-02-15).

The Catholic Church strictly rejects PGD. In its view human life begins with the fusion of the two cells. The so produced creature has human dignity. This life has to been protected. In contrast to this, PGD means selection and elimination of human life. The postponement of human dignity to a later time would create an ethic vacuum that would open the door for arbitrariness, the German bishop's conference said. (Source: Press release of the German bishop's conference of 2011-03-17). The auxiliary bishop Dr Anton Leusinger considers PGD unconstitutional. The dismissal of human life due to irregular chromosome findings is in contrast to the respect for human dignity, the right to life and the right to bodily integrity. The prohibition of discrimination for reasons of disability does not only prohibit the discrimination of already-born people but also the discrimination of embryos with an expected genetic disorder. (Source: Press release of the German bishop's conference of 2010-10-13).

One should mention that the Catholic Church already strictly condemns the in vitro fertilisation, an indispensable prerequisite for preimplantation genetic diagnosis (so done in the instruction Donum Vitae, issued on 22 February 1987 by the Congregation of the Doctrine of the Faith presided by cardinal Ratzinger, now pope Benedict XVI.).

Picture above: schematic representation of a blastocyst

The main aspects of the new German law on preimplantation genetic diagnosis

In Germany, preimplantation genetic diagnosis is allowed under the following conditions:

There must be a high risk of a severe genetic disease due to a genetic disposition of one or both parents

There is a high probability of a stillbirth or a miscarriage due to a severe damage of the embryo.

In each case the following requirements must be met:

Information and advice must be provided.
A written consent of the woman who gives the egg cell is necessary.
An interdisciplinary ethics commission gives a positive vote.
The diagnosis may only be carried out by a specialized doctor in a licensed centre.

If one of the requirements mentioned above is not fulfilled a PGD remains prohibited and will be punished with imprisonment up to one year or with a fine. The details of the obligatory documentation will be regulated in a forthcoming regulation by the federal government. No doctor is obliged to take part in a PGD and there shall be no disadvantage for those who refuse to take part in the PGD.

The law does not name the diseases which justify a PGD but refers this question to doctors and the ethics commission. In Germany, "genetic diseases" mean monogenic-related (i.e. by a single gene) diseases and chromosome disorders. These genetic diseases are severe if they can be differed from other genetic diseases by a short life expectation, severe symptoms or bad treatability. A "high risk" may be recognized if there is a high probability which differs from the normal risk of the population. Moreover, the probability has to be assessed genetically by the accumulation of transferability and combination of genetic characteristics. Thus, a probability of 25 to 50% means a "high risk". Certain chromosome abnormalities are the main reason for stillbirths and miscarriages without the parents having any chromosomal changes (document of the Bundestag 17/5451 page 8).

The German government will provide a report about the experiences with the new law in each legislature.

Like before PGD is not allowed on cells that are still totipotent (this characteristic disappears in the eight-cells-phase), a cell separation at this time would be a cloning of humans cells which is not allowed in Germany. Separation and use of embryonic cells are only allowed for the preservation of the embryo.

A determination of the gender of the embryo that shall be used for the transfer is not allowed with one exception. It is possible to examine the embryo's gender for securing that the artificially generated child will not suffer from a serious gender-linked genetic disease.

It is expected that in Germany there will only be a small number of cases where PGD will be used. In this country with more than 80 million inhabitants only 200 to 300 cases are being expected.

Arguments against preimplantation genetic diagnosis

There shall be no separation of live worth living and life not worth living. Medical treatment and help are available for many genetic diseases today.
The German constitution and international treaties prohibit the discrimination of disabled people.
It is not practicable to limit PGD to certain cases. There is the danger of additional findings and the inclusion of hereditary prepositions that do not necessarily occur later.
Some genetic diseases only break out during adulthood. The German law on genetic diagnosis does not allow appropriate genetic tests during the pregnancy.
Life value must not depend on a projected life expectancy. (Therefore no exceptional release of PGD in case of stillbirths or miscarriages).
Danger of a genetic misdiagnosis. (Genetic loads can be found out in error).
The release of PGD could motivate pairs that are capable of reproduction to choose artificial insemination which is connected with certain dangers such as hormone stimulation, egg retrieval, multiple pregnancies, generation of surplus embryos in-vitro.
The right of the free development of personality and the protection of marriage and family do not contain the right to choose genetically a healthy child.
Although contraception and abortions are allowed in Germany, there is no contradiction of values because these methods are generally not used to avoid disability.

Arguments for preimplantation genetic diagnosis

It would be contradictory to prohibit PGD but not to criminalize an abortion which is a more burdensome and often risky interference.
A total prohibition of PGD would be disproportionate. A limited release would be a reasonable balance between the personal freedom of the individual and the state's obligation to ensure legal interests.
Couples that without PGD would abstain from having children get help for the realisation of their wish to have children. This wish should be respected.
Stillbirths and miscarriages can be avoided.
A not know about genetic predispositions is disproportionate.
PGD is allowed in many other countries.
Medical tourism to other countries (for example Belgium) will be avoided.
If PGD is prohibited, the state has to prohibit in vitro fertilisation as well because by that procedure surplus embryos are generated which have to be discarded.
The aim of non-discrimination of disabled people does not demand that attempts to avoid a disability shall not be made. Only a small part of disabilities has genetic reasons.
The implantation of the embryo in the uterus is a turning point. Before this, the fertilised cell is not survivable. Even on regular ways fertilised cells get lost.
By diagnosing chromosome disorders the success rate of in vitro fertilisations can be increased.

PGD and the German constitution

Preimplantation genetic diagnosis has raised constitutional questions in Germany. How far goes the state's duty to protect human life, how deep may the state meddle in the private sphere of reproduction and family planning?

Women in Germany have no absolute right of self-determination whether to carry out a baby or not. Not only already-born human beings deserve the attention and protection of the state but also the unborn life in the womb of the mother. Therefore the Federal Constitutional Court abrogated a liberalisation of the abortion law in 1975 which would have allowed the interruption of a pregnancy within the first twelve weeks after conception. The Court ruled that the state is obliged to protect the fetus even against the mother whose right on self-determination generally must step back before the right of life of the maturing embryo or fetus. But there is no absolute priority of the unborn life. If it is necessary to avert a danger for the life or a serious impairment of health of the pregnant woman, an abortion may be justified. Further on, there may be similar cases where the continuation of the pregnancy is unreasonable. In the 1975 judgement, the court decided that human life starts in any way at the fourteenth day after the conception (nidation, the implantation of the embryo in the uterus) and that there shall be no difference between the various phases before the confinement and between unborn and already-born lives. All human lives are objects of human dignity, it is not necessary that the bearer is aware of this protection.

In another judgement on abortion from 1993 the Federal Constitutional Court confirmed its jurisprudence but, because it was not relevant, did not answer the question whether human life already begins with the fusion of egg and sperm cell. The German Act on the Protection of Embryos from 1991 is based on the idea of such an early beginning protection. According to this law, it is prohibited to generate an embryo in vitro for purposes other than the induction of a pregnancy. "Embryo" is described by this law as each fertilised and viable egg cell from the moment of the fusion of the cell nuclei. Further on, each totipotent cell which can develop to an individual taken from an embryo is considered as an embryo itself. This is the reason why the generation of embryos as material for stem cell research is not allowed in Germany. But research on foreign stem cells which have been imported to Germany before a certain date is permitted.

Another aspect of the German law on assisted reproduction is the prohibition of surrogacy.

Picture above: The Federal Constitutional Court of Germany in Karlsruhe. The German constitution provides for the protection of embryos.

Last update: 19 January 2012

The graphic with the blastocyst is based on the vector graphic "Blastozyste.svg" (author: Lennert B, graphic is in the Public Domain), the photo of the Constitutional Court on the file "Karlsruhe bundesverfassungsgericht.jpg" (author: Tobias Helfrich, Creative Commons Attribution-ShareAlike 3.0 Unported license) of the file repository Wikimedia Commons.

The three bills can be found in the Bundestag documents 17/5450, 5451 and 5452.