While we celebrate this year the 50th anniversary of the discovery of the origin of Down Syndrome by Jerôme Lejeune 2, Jean-Marie Le Méné, chairman of Jérôme Lejeune foundation 3, published a book in which he dismantles the workings of the organisation of French screening, first public policy of genetic discrimination. Where is the scientific progress when the genetic advances work to the advantage of screening instead of treatment ?
The tragedy of Down syndrome
The story of Down syndrome is that of an extraordinary discovery which turns against those it has to serve. Like Pr Lejeune dread it, the identification of the 3rd chromosome on the 21st pair today serves to kill the patient rather than to eradicate the disease. And, today, nobody or almost nobody – wonders about the scheduled disappearance of children who carry this pathology. “The discovery of Down Syndrome was a progress in the knowledge of this disease which has to give the science, the State, France, the humanist will and the technical means to achieve curing patients”, but, “the contrary occurs: this progress of the knowledge produced a regression and supplied death tools to get rid of patients being very young”. Today, in France, the screening tests are proposed, in a mandatory basis, to all pregnant women: 96% of Down syndrome children so detected are eliminated in utero and can be aborted – legally – until the day before the delivery.
The profitability of the elimination
Public health policy regarding Down syndrome was elaborated from screening and prenatal diagnosis (PND) costs compared to the costs of treatments of Down syndrome people throughout their life. This comparative study concluded that “the weight of the elimination is socially better supported than the weight of their existence”. To be valid, this accounting presupposes that a diagnosis for Down syndrome is systematically followed by an abortion. From 1999, the screening costs were assessed to around €100 million, financed by Health insurance, while there is no public policy for researching Down syndrome treatment.
Here the question of the free choice of the woman comes up. A recent study from Inserm 4 showed that “half of the women who accepted an ultrasonography and a blood test were not aware about that they could be faced with making other decisions: have or not an amniocentesis and, in the event of accuracy of Down syndrome diagnostic, carry on or terminate their pregnancy”.
For a better screening
Refining the diagnosis for Down syndrome is eternally a current fact and the implemented organisation carries on improving. This way, a new antenatal screening test should be used soon and this from the 10th week of pregnancy. With a simple blood test, this technique, by analysing genetic traces of the fœtus circulating in the mother’s blood, will detect in an unquestionable way those presenting Down syndrome and avoid hundreds of miscarriages due each year to amniocentesis (1% of the cases). In other words, this test will catch only Down syndrome people, but will catch them all…
From eugenics to genocide
How a “rule of law can be satisfied with this obvious eugenics”? This is a legitimate question asked by prime Minister himself. In his engagement letter addressed to the Council of State on 11th February 2008 for preparing the revision of the bioethics law, François Fillon was worried about the use of prenatal (PND) and pre-implantation (PGD) diagnosis: “do the provisions governing these practices guarantee an effective application of the principle prohibiting any eugenic practice?”.
Finally, when all individual eugenics lead to a collective eugenics so openly scheduled by the population, is it not time to talk about genocide? The article 211-1 of French Criminal Code defines genocide as “a concerted plan tending to the total or partial destruction of a national, ethnical, racial or religious group, or of a group determined from any other arbitrary criteria”. Indeed, French screening policy is directed at a determined group, characterised by an additional chromosome, and leads to the disappearance of 96% of these members.
A hopeless tragedy?
Insisting on the emergency to find alternatives to the “all screening”, Jean-Marie Le Méné makes concrete proposals: teach physicians how to accompany the families concerned; to “perfect” the rights of Down syndrome people to be treated, cared in a therapeutic perspective and then finance the research of a treatment for Down syndrome. Like Professor Jean-François Mattei committed himself to doing it, at the name of the State, in his report from 1996 on the generalisation of Down syndrome screening. a research effort with therapeutic purpose equal to that concerning the screening must be paid by the State, “subject to think that the choice is to eliminate rather than to understand the causes of the affection in order to better prevent”.
As a conclusion, the author invites us to be responsible: “the settlement of the tragedy of Down syndrome, in our hands, remains to be written”.
1 – La trisomie est une tragédie grecque – Jean-Marie Le Méné, Ed. Salvator, 2009
2 – J. LEJEUNE, M. GAUTIER et R. TURPIN. Les chromosomes humains en culture de tissus. C, R. Acad. Sciences, 26 janvier 1959, 248, 602-603. 12
3 – 1er financeur en France de la recherche sur la trisomie 21 – www.fondationlejeune.org
4 – Prenatal screening for Down syndrome: women’s involvement in decision-making and their attitudes to screening – Valerie Seror, Yves Ville, 2009