No Room on the Lifeboat?

This spring the French parliament is scheduled to debate a bill proposing revisions to the national bioethics laws currently in force. In January 2010 the pertinent legislative commission published its report, which addresses questions about surrogate motherhood, assisted reproduction, human embryo research, pre-natal screening, and organ donation. The report relies heavily on recommendations issued on November 17, 2009 by the French national ethics committee, the Comité Consultatif National d’Éthique (CCNE).

Pre-implantation diagnostic testing, although controversial, was allowed in strictly defined cases by the 1994 bioethics law. A couple with a family history of a “particularly serious” genetic disease was legally permitted to have their embryonic offspring (produced through in vitro fertilization) screened for that one disease; any embryos in which the genetic disorder was detected would be “discarded,” so as to implant only disease-free embryos in the mother. The CCNE recently recommended extending pre-implantation screening to include trisomy 21, also known as Down syndrome.

The press conference held by the CCNE on November 17, 2009 revealed that the French national ethics committee did not approve Recommendation #107 unanimously. Xavier Lacroix stated his opinion that “although we are not talking about the collective and coercive eugenics seen in recent history in some totalitarian regimes,” there is still “a liberal and individual eugenics movement that can lead to the same results as a collective policy.” The CCNE, he said, obviously based its proposal “on a pragmatic and utilitarian argument… but in ethical thinking the utilitarian bottom line shouldn’t always have the last word.” Another committee member, philosopher Pierre Le Coz, replied, “We don’t think that we are involved in eugenics…. As long as couples have freedom and there is no incitement by the state, there is no eugenics.” The proposed selection among human beings, he continued, has a
“praiseworthy” motivation. “We spare people suffering…. This frees families from the burden of a calamity.”

Ironically, the CCNE recommended screening embryos for trisomy 21 just 50 years after the discovery of this chromosomal disorder by Dr. Jérôme Lejeune (1926-1994), a French geneticist and pediatrician who devoted his medical career to treating children with Down syndrome and did much to remove the stigma formerly attached to the condition. Then, on November 18, 2009, Dr. Ahmad Salehi of Stanford University announced a spectacular breakthrough in his study of the neural basis for the memory deficit that causes cognitive delay in children with trisomy 21. His research team showed that increased norepinephrine (a neurotransmitter) greatly improves cognition in genetically engineered trisomic mice. Salehi expects that his findings
can lead to a drug therapy to compensate for the memory deficiency in human patients. “If you intervene early enough, you will be able to help kids with Down syndrome to collect and modulate information.”

La Fondation Jérôme Lejeune, an organization that continues the research and advocacy of its namesake, responded immediately to the CCNE recommendations with a communiqué denouncing “a further step that confirms the intention to eradicate as soon as possible every human being affected by trisomy 21.” The president of the foundation, Jean-Marie Le Méné, had published a book in January 2009 entitled La trisomie est une tragédie grecque (Trisomy is a Greek Tragedy) and recently has been interviewed repeatedly in the French press concerning his latest book, “Nascituri te salutant!” La crise de conscience bioéthique (“Those yet to be born greet you!” The Crisis of Bioethical Integrity), in which he criticizes what he calls the implementation of a “state eugenics” program and challenges French parliament members to reconcile science and ethics.

Responses from the medical and scientific communities to the controversial Recommendation #107 of the CCNE have been documented at www.genethique.org, the website of the Fondation Jérôme Lejeune. The following discussion of the proposed relaxation of the French law restricting pre implantation screening is compiled from statements made by Le Méné and his colleagues during the first three months of 2010.

The practice of performing diagnostic tests on human embryos before implantation is inherently “transgressif” or morally objectionable, because it presupposes the technologically-assisted production of more embryos than are needed and the subsequent destruction of any that are found to have genetic anomalies, or else of the “spare” embryos. (According to Catho-lic moral teaching, most recently reiterated in the 2008 magisterial document Dignitas Personae, the deliberate destruction of a human embryo is never justified.) In order to relieve the anxiety of potential parents who are carriers of a genetic disease, the French bioethics law of 1994 tolerated the destruction of incipient human life and allowed preimplantation screening under strictly defined conditions: there must be a previous family history of a serious genetic disorder, and only one disease may be screened at a time. Furthermore the law did not draw up a list of qualifying diseases, so as not to stigmatize patients afflicted by them.

In recent years the criteria for preimplantation screening have been slackened throughout Europe. First, it was authorized for relatively manageable handicaps such as hemophilia and diabetes. Today in some countries it is even permissible for the purpose of sex determination. But with Recommendation #107 another critical line has been crossed.

Trisomy 21 is not a hereditary disease, but rather a genetic accident; Down syndrome occurs when a person has three copies of the 21st chromosome instead of two. It is the most commonly occurring chromosomal condition, affecting around one out of every 733 babies born in the United States today.

In the CCNE recommendation trisomy 21 “is described for the first time as a ‘particularly serious’ disease.” Furthermore, in mentioning trisomy 21 at all it violates the intention of the original law concerning pre-implantation diagnosis, which deliberately refrained from specifying diseases. Finally, in naming trisomy 21 in first place among conditions for pre-screening (followed by predispositions to cancer, etc.), the recommendation severely stigmatizes persons with Down syndrome.

CCNE Vice-President Pierre Le Coz has argued publicly that the recommendation by the national ethics committee has not really broadened the scope of pre-implantation screening but rather brought forward the point at which testing for trisomy 21 will occur, “since this screening will be proposed anyway to the pregnant woman.” Indeed, more than 80 percent of pregnant women in France agree to submit to pre-natal screening, and in recent years 96 percent of trisomic French children detected in utero have been aborted.

Jean-Marie Le Mené condemns the “prescriptive effect” of pre-natal screening. “I don’t judge the people, but the system.” Although pre-natal diagnostic testing is not obligatory, physicians are required by French law to propose it, and more than 80 percent of pregnant women agree to undergo the tests. A recent study shows that almost half of them “are not aware that [screening] could lead to other decisions: whether or not to have an amniocentesis, or, in the case of a diagnosis of trisomy 21, whether to continue their pregnancy or to abort.”

Although some sophisticated types of pre-natal screening merely require tests on the mother’s blood, conventional tests on samples of amniotic fluid, chorionic tissue, or fetal blood are morally problematic, because they are invasive, non-therapeutic, and entail slight but real risks. After years of almost universal pre-natal screening at government expense, France holds the world record for amniocenteses performed (11 percent of pregnancies nationwide, 16 percent in Paris and the five surrounding départements). Complaints that women are inadequately informed of the reasons for and against pre-natal testing have reached such a pitch that the pertinent rules issued by the government in June 2009 had to be supplemented by a decree dated February 19, 2010.

Le Méné is still concerned that even the best-informed consent may not be completely free, given the implicit “exclusion already created, maintained, and financed by the state through its eugenic policy of general [pre-natal] screening.” France faces “the terrifying prospect of the eradication” of trisomy 21 as “the result of a collective choice by the state that draws after it individual choices, of which the parents and the children are the victims.”

This would be tragic, especially since medical research could one day mitigate the cognitive disability associated with Down syndrome. Commenting on the announcement of the study by Dr. Salehi, Le Méné commented, “This is very good news. From now on it is clear that this pathology is not incurable and that it is worthwhile devoting time and money to trisomy 21 research.”

Le Méné debated Jean Leonetti, secretary of the parliamentary commission for revising the bioethics laws, in Paris on January 27, 2010. Leonetti, who favors the proposed extension of screening to trisomy 21, refused to call it a eugenic policy. He maintained that the legislator is not supposed to determine what is right and what is wrong for each individual, but rather “to guarantee that every citizen has the means of making enlightened decisions.” Le Méné replied that the government influences those decisions: “One group of human beings is discriminated against because of its genome; all members of that group are subject to voluntary attacks on their life, and all this is organized within the framework of a specific plan.”

Leonetti suggested that it is “easier” (i.e., more cost-effective for the state) to screen than to cure. Le Méné retorted that for 35 years the state has not given one cent to research for the benefit of persons with trisomy 21, whereas it spends 100 million Euros each year on pre-natal testing. Leonetti admitted that there is a “real problem with informed consent….screening too often means abortion. We’ve drifted from ‘I’m informing you’ to ‘society advises you,’ and that’s a serious shift.”

This pernicious trend is by no means limited to France. In Germany a law on genetic testing that had been debated for years went into effect in February 2010. Only physicians are authorized to perform genetic analyses; pre-natal tests are allowed “for medical reasons,” which include screening for trisomy 21. Quebec also is preparing this spring to implement a program of pre-natal testing for Down syndrome. Meanwhile, the family of a healthy eight-year-old trisomic child named Merlin was denied permission to enter Canada because the national immigration service ruled that the boy would be “an excessive burden.”

The fifth annual World Trisomy-21 Day was held on March 21 (“3/21”), 2010. On that occasion the Fondation Jérôme Lejeune announced promising advances in its research on behalf of trisomic persons. They published a study evaluating the effects of a folic acid treatment on over a hundred trisomic children ranging in age from six months to two years. The young patients treated with folic acid developed their psychomotor skills at a rate (6.5 months/year) that was 9 percent greater than that of the patients who received a placebo (5.5 months/year). The foundation has also begun another clinical study on a molecule derived from green tea.