World Down Syndrome Day and performance of diagnosis tests: what is the coherence?

The bioethics actuality of March focused on Down syndrome. Indeed the 21st of March 2012 was defined as the “World Down syndrome Day”, recognized for the first time by UNO. In this particular context, Gènéthique proposes again to echo this controversial ethical subject. 
Several parent organizations take advantages of this occasion to mobilize and engage the presidential candidates. Coincidently or ironically, on the same day scientists organized in the collège de France a cycle of conferences mainly on the new diagnosis tests for Down syndrome. 
In France, we know it, the link between Down syndrome and prenatal diagnosis is an automatism, so that we do not wonder anymore collectively on the experience of Down syndrome people and their families, nor on their demands, but simply on the question: how to make the screening of the disease more efficient?

The noninvasive prenatal diagnosis (NIPG): future detection of Down syndrome

 

Professor Jean-Louis Mandel, geneticist, organized three conferences on the same theme: “Impact de génomique à haut débit sur le diagnostic prénatal et le diagnostic préconceptionnel de maladies génétiques : nouvelles applications, nouveaux problèmes soulevés” (impact of high rate genomics on the prenatal diagnosis and the preconception diagnosis of genetic diseases: new applications, new problems raised). 

Scientists, geneticist, obstetrician gynecologists met to present the new prenatal diagnosis tests which will concern on a first time the detection of Down syndrome before to be extended to other pathologies. In order to well understand the challenges of new technologies, it is advisable to remind what the PND for Down syndrome is today in France.

 

 

For 15 years, the PND for Down syndrome changed. From a prenatal screening (1) proposed to women over 38 years old (having more risk to have Down syndrome child), France passed to a generalized prenatal screening (2) for Down syndrome. Today, all women are led to have a screening test for this pathology, reimbursed by social security. 

From 2009 (3), this test is called “early” because it is performed on the first quarter of pregnancy and “combined”, because it “combines” the measurement of fetus nuchal translucency, the age of the mother as well as a blood sample enabling to dose two serum markers. These elements allow to show if the woman is in a “risky category”, in other words if she has more than one risk out of 250 to be pregnant with a Down syndrome child. 
If the result of this screening is positive (>1/250), the woman can proceed to diagnosis tests (4), namely an amniocentesis or a biopsy of the trophoblast, to determine if the fetus presents Down syndrome. These invasive tests cause miscarriages in 1% of the cases.

 

 

Taking into account these extremely quick evolutions in this field, the NIPD will be soon used in France, by two or three years according to Miss Prada Bordenave, director of the Agency of Biomedicine.

This new test, already used in the USA and distributed by Sequenom, allows, via a simple blood sample in the mother, collecting a DNA sequencing of the fetus. We study already the fetal DNA present in the mother plasma to determine the gender and the rhesus of the fetus in order to treat the genetic diseases which are related. Thus the new element of the NIPD results in the possibility to diagnose Down syndrome in the fetus DNA, on an accurate way (detection rate of 100%, with less than 2% of false positives) early (10th week of pregnancy) and less and less expensive, as this DNA sequencing, which cost USD 5 billion ten years ago, will only cost USD 1,000 at the end of 2012.

In the USA, this NIPD reduced the number of amniocenteses from 114,000 per year to 7,200, with an improved detection of Down syndrome fetuses from 4,730 to 5,080. Alexandra Benachi (5) sees this technique as a positive evolution which will allow resolving problems of miscarriages related to amniocentesis, allow the women to have an earlier diagnosis allowing, in case of positive diagnosis, to perform a VTP rather than a MTP, or event to simplify the comprehension of the PND.

Nevertheless, a question raises and we do not have to duck it: of course we can approve a more efficient and less risky diagnosis method for the fetus (6) but the main question is first to know the impact of these new tests on the observed eugenic drifts?

 

 

The NIPD does not have unanimous approval. It represents for some a mass “screening-diagnosis” which nullifies the early combined screening. Indeed once the technique will be acquired; there will be only one same and single step: the diagnosis. From the first quarter, the fetus will be or not diagnosed with Down syndrome. Thus we have to expect so many non-invasive diagnoses as early and combined screenings. But above all, passing from a “super early” diagnosis will eliminate any reflection time concerning the continuity of the pregnancy when Down syndrome will be detected. The chairman of the National Ethics Advisory Committee, Alain Grimfeld, evokes discretely “instantaneous initiatives” to translate the danger which represents the NIPD which will lead to certainly more numerous VTP. There will be anymore any brake to perform the diagnosis for Down syndrome (brake represented by amniocentesis-related miscarriages). He expresses the risk of “over-diagnosis” allowing sorting the embryos to select the perfect child. Finally, he is worried about that such tests, sooner or later, are accessible by electronic mean: “this would avoid any appropriate medical information as well as the presence of an external moderator”.

With the generalized screening for fifteen years, we are deprived of Down syndrome awareness, a real knowledge of this pathology and development of the research. We are already in eugenics for Down syndrome people. The NIPD will only worsen the situation in an even more paced cadence. Is this what it was expected for Down syndrome? Is it the NIPD asked for the parents of Down syndrome children? Is there any huge gap between what the science produces and the needs of patients and their families?

The real need of Down syndrome patients and their families

 

Several organizations or associations have spoken concerning the World Down Syndrome day.

First of all, a poster campaign from the collective Trisomiques et alors ? in the streets of Paris could touch the general public and wonders about the position given to these persons in our society.
Then, the Comité pour Sauver la Médecine Prénatale health professionals published a collection of lectures “15 ans de dépistage prénatal de la trisomie 21 : l’erreur française“, to engage the candidates to presidential election and the society on the scope of Down syndrome problem, in order to “awake awareness” (7). Finally, the association Les Amis d’Eléonore, gathering parents of Down syndrome children, organized a conference at the Economic, Social and Environmental Council of France on the theme: “Trisomie 21 : un enjeu éthique, quelle urgence pour les politiques ?“.
These different initiatives show the discrepancy which exists between the need of Down syndrome and their families and the worrying evolution of the PND. 
Emmanuel Laloux, chairman of the organization Les Amis d’Eléonore and father of Eléonore, a Down syndrome young woman, explains: “I expect from a state that it releases the initiatives, it consents to invest in a research that progresses and gives us a glimpse of results. For me the ideal state would be that which would try to erase a lot of negatives and maintained images. I think that the problem is the stigmatization made on Down syndrome. […] We have to […] give the floor to the person concerned, because she/he is a person who thinks and knows to communicate what she/he feels. The more Down syndrome people can talk, the more they will exist in our society. Let us not give way to compassionate posture which will lead to nothing. It only pushes the person deeper in her/his deficiency.“
Eléonore herself talked, testifying by her big laugh her life: “I’ve got a job, I’ve got a flat, and I am the sunshine of my work colleagues. What I want, it is that we make donations for prescribing medicines, pills to cure Down syndrome. We would need a TRISOTHON. Because we, Down syndrome people, we are happy with our parents, we carry a lot of love“.
Christel Prado, chairman of the UNAPEI reminds that “this is the organization which will make things change”. And this is why the representatives for presidential election have been invited and listened to know what the projects are on this problem revealing Down syndrome in our society.

 

 

Nicolas Sarkozy’s representative reminded insisting that the role of the public power is to propose a real choice for the parents whose child is detected with Down syndrome. For Nicolas Sarkozy this free choice passes by the affirmation of the citizenship of Down syndrome people, which passes by the affirmation of their rights: right to education, right to work, right to compensation and right to accessibility.

 

François Hollande’s representative expresses that for assuring a decent life to mentally disabled people, and Down syndrome people, the prenatal and postnatal welcoming has to be developed, work positions have to be created to facilitate the school integration of Down syndrome children and the initiative has to be given to associations.

 

Marine Le Pen’s representative explains that the problem of Down syndrome, and more widely the problem of disability, must really be a fundamental mission. For her, only the politician will be able to make thinks change; thus this depends on the budgetary choice. For her, the man has to come back to the center of the presidential project. To do so, Marine Le Pen wants to give a legal and social status of caregivers to people who help disabled people, and to have a budget totally dedicated to national sovereignty and national solidarity.

 

Finally, François Bayrou’s representative insists on the integration to all life levels: at school, at work, but also when ageing. The research on Down syndrome must develop: it must be public and private.

The parents of Down syndrome children hope that their awareness work to candidates and society will make things evolve. The help they need is not in a new ultra-efficient NIPD. They simply wants that the exaggerated attention placed on the prenatal track of Down syndrome people, which will be encouraged by the NIPD, is finally paid to the experience of Down syndrome people, their happiness and their expectations.

 

(1) The prenatal screening consists in evaluating the risk a pregnant woman to have Down syndrome child. It deals with a risk calculation, a probability.