Unsurprisingly, the French High Authority for Health (HAS) [1] recommends including non-invasive testing for Down Syndrome in the French testing policy[2] For the occasion the HAS has given it a new barbaric name: “Test ADN libre circulant dans le sang maternel pour le dépistage de la trisomie 21”( Down Syndrome test using cell-free foetal DNA running through the mother’s blood) (test ADNlcT21), and recommends it should be given an intermediary role, between combined testing[3], and amniocentesis. The current level of women at risk, set at 1/250[4], is to be extended to 1/1000. As a consequence, around 60 000 pregnant women will undergo second prenatal testing to insure they are not carrying a child with Down Syndrome. One step further towards eugenics.
Haste
The second part of the assessment carried out by the HAS and published today, on May 17th, is said to go over the medico-economic impact as well as ethical and organisational aspects of the ADNlcT21 tests. Published with haste, the conclusions given seem premature:
The analysis of the result of the SAFE21 study, led at the Necker hospital in Paris to assess “the use of ADNlcT21 tests in pregnant women with a high risk of having a child with Down Syndrome”, are still ongoing. The HAS therefore relied on foreign studies, while recognizing they are not comparable with the French context. Why come to a conclusion without waiting for the French study? Likewise, the last French perinatal survey goes back to 2010[5], its update should be published within the next couple of months. Where is the rush? Did the decree published on May 7th speed up the procedure? [6]
Many issues concerning organisation are brought up by the HAS and remained unanswered: who will prescribe the new tests? When? How? How will results be communicated? What are the recommendations in case of uninterpretable results, such as a twin pregnancy or maternal obesity? Adding another stage to prenatal testing for Down Syndrome is only going to increase the number and the length of consultations for genetic counselling. Is our health system up for it? Besides, one remains dubious about making the procedure so complex: will all pregnant women be able understand it and make a “free” choice?
Ethical aspects can be resumed as follows: “information and accompaniment of pregnant women”, “equal access to information”, “equal allocation of resources in case of additional cost for the community”, “the scope of results likely to be researched and the possibility of making incidental discoveries”. The HAS considers that “the ethical appropriateness of developing Down Syndrome testing in itself is not to be questioned, but does admit there can be a negative impact on people with Down Syndrome and their families”. However, it believes that the “risk” does “not justify defending options that cause more foetal losses”. Restraining prenatal testing for Down Syndrome is a non-ethical decision and therefore non-negotiable…
Profit
The medico-economic study of the HAS, carried out to measure the impact of reimbursing these tests, consist in an endless series of tables and figures. Decisions taken using cold and inhumane statistics: What is the best strategy to detect more and at an earlier stage? To whom and when suggest a ADN1Ct21 test, reimbursed by social security? Ruthless calculations: how many losses of “healthy foetuses” are acceptable to increase the diagnosis of foetuses with Down Syndrome?
Indeed, the major ethical argument in favour of these ADNIcT21 tests is the reduction of the amount of invasive sampling which endangers the life of the foetus [7]. The “clear conscience” of health authorities relies on the couple of “healthy foetuses” saved from eradication.
However, on reading the report the argument in not convincing. It is not a universal truth but indeed depends on the place given to the test in the testing policy. The strategy recommended by the HAS is supposed to lead to a decrease in amniocenteses, but this prediction relies on a certain number of simplifications and estimations. The HAS has not been able to account for any recent French studies on the number of invasive examinations or foetal loses related to them.
Besides, potential “abuses” have been underlined by the HAS: « Some pregnant women having had a positive ADNIcT21 test and who do not wish to wait for a confirmation by an invasive examination” could “choose to abort” without waiting for the karyotype analysis. If this technique indeed helps decrease the number of amniocenteses, it however causes the number of abortions to increase.
By establishing this Down Syndrome strategy, health authorities have engaged on a slippery slope. Though not finite, the last recommendations given by the HAS are another step in favour of radical eugenics, and provide profit to investors. The financial issues are indeed huge[8]. The French policy on Down Syndrome testing constitutes a 65 to 250-million-euro market, renewable each year. Inversely, therapeutic research is reduced to nothing.
What is the next step going to be? Extending the test to other pathologies? What will it take for our society to question this discrimination-based policy?
[1] Haute Autorité en Santé (French High Authority of Health)
[2] The Direction Générale de la Santé (the French Directorate General for Health) charged the HAS to assess the impact introducing ADN1cT21 tests would have, depending on the place they are given in the testing policy and if need, come up with new recommendations concerning Down Syndrome foetal testing in France. The first part of the assessment, on the analysis of the performance of ADN1cT21 tests was published in November 2015. It is the second part, concerning the medico-economic and ethical aspects, that is quoted here.
[3] Ultrasound measurements of the nuchal translucency and serum marker levels in the mother’s blood.
[4] After the first trimester’s combined testing, only women with a risk over 1/250 are offered invasive sampling for confirmation (amniocentesis or biopsy of chorionic villi).
[5] National perinatal surveys, coordinated by the DREES and the Inserm, are carried out at regular intervals; they cover the evolution of the main perinatal indicators relative to health, medical practices and risk factors. The results of the survey led in 2016 will be published “sometime during 2017”.
[6] Cf. Down Syndrome: France secretly makes NIPT lawful”, NIPT included in the “tracking strategy of Down Syndrome”
[7] Amniocentesis
[8] The HAS estimated the level of fœtal loses related to invasive sampling to be 0.14%, and the complications rate 1.21%. According to the 2014 data, out of 24979 pregnant women having completed a foetal karyotype, 303 pregnant women were hospitalised in the 15 days following the examination as a direct result of the act. 136 foetuses died in utero (0.82%).