Genetic Testing Before Having Children - hsmedlife

 


Preconception screening could be generalized. A step forward, even if the list of diseases concerned remains debated. A180 degree turn. After twice giving negative opinions on the subject, the National Consultative Ethics Committee (CCNE) has just given the green light to preconception screening in France.

Relatively unnoticed next to the debates around medically assisted procreation (ART), this recommendation is the one that could have the most important short-term consequences for public health. 

The idea would be to open up to all couples the possibility of detecting whether they risk giving birth to a child with a rare and serious genetic disease, such as cystic fibrosis, for example. Pathologies that occur only when both parents are each carrying the defective gene: in this case, they have a one in four risks of having an affected child with each pregnancy.

 

An untenable situation


"We recently had the terrible case of a couple who came to be screened for a very rare genetic disease," says Professor Pascal Pujol, a geneticist in Montpellier. 

The test for this pathology was negative, and we did not. We did not look for other mutations, since the law forbids us to do so. But we then discovered that their child had cystic fibrosis. “With other geneticists, the president of the French Society for Predictive and Personalized Medicine has therefore been campaigning for a long time to open these tests.

If the legislator decides to follow the CCNE, it would therefore be real progress for families. However, this should not be seen as "all-risk insurance" against all genetic diseases, or even a step towards the quest for the perfect child. Such screening cannot in fact prevent pathologies linked to de novo mutations, that is to say, which occur by chance at the time of conception, and are therefore not present in the genome of the guardians.

 

A list of diseases

What conditions could therefore be affected by these tests? CCNE does not say so clearly: it refers the question to the Biomedicine Agency, which would be responsible for establishing a list of "serious monogenic pathologies occurring in children or young adults". "It should be limited initially to rare and incurable diseases, and in priority cystic fibrosis, infantile spinal muscular atrophy and blood diseases such as sickle cell anemia and thalassemia," said Professor Pujol.

Pathologies "of late-onset or associated with predisposition genes" would, in any case, be excluded - including, for example, the search for mutations increasing the risk of developing Alzheimer's disease.  On the other hand, quite surprisingly, the Ethics Committee is proposing to also open this screening to "actionable" mutations that are to say that can lead to diseases for which there is a treatment.

Typical case: abnormalities of the BRCA 1 and 2 genes, which considerably increase the risk of developing breast cancer. This last point is still very much debated in the medical community: "Today, these mutations are sought after in families where there have been many cases of tumors.

But we have good reason to believe that they are actually quite enough. Widespread in the population, without however systematically causing cancer ", is surprised for example Professor Dominique Stoppa-Lyonnet, head of the genetics department of the Institut Curie in Paris. 

 

The cost will be taken into account

One thing is certain: this decision will not be neutral for public finances. The screening will certainly avoid the very significant costs associated with the management of these diseases. But the question of its financing will not fail to arise, especially as CCNE recommends that it be covered by Medicare. 

At a rate of 235 to 353 dollars per couple, the bill could quickly climb. "Especially since it is then necessary to increase the means granted for preimplantation screening and in vitro fertilization if we really want to allow the families concerned not to give birth to a sick child", specifies geneticist Dominique Stoppa-Lyonnet.

 

What is genetic counselling?

Genetic counselling is a conversation in which a counsellor explains how diseases are inherited from parents to children and why the risk of having children with various diseases increases when parents are related. The genetic counsellor can also provide parents with information about what any genetic examinations entail, what the examination shows and what it cannot show.

The interview is completely non-binding and does not have to involve examinations or testing. During the interview, the supervisor will ask for information about illnesses in the family. 

An assessment can then be made of how great the risk is of having a sick child. During the conversation, you can also talk about what can be done if you have or have a child with a hereditary disease if the disease can be treated, and about who can help the child and the family further.

A genetic guide also provides information on the possibilities for testing and examinations of the man and woman themselves, the fetus, children, and family members.

 

Testing and investigations

If the genetic defect that causes illness in the family is known, a genetic test can show whether you have the current genetic defect or not. Although there are cases of illness in the family, the genetic defects that cause illness or malformations are not always known. If the genetic defect that causes illness in the family is known, the pregnant woman can be offered genetic fetal diagnostics, for example by a placenta test.

If there is a risk of congenital malformations, special ultrasound examinations of the fetus may be necessary. The possibilities for testing and examinations of the fetus, child, or adult will be discussed under genetic guidance. If there are no known cases of illness in the family, no genetic test is taken.

 

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