the map of genetic dispersion that Europe does not know how to stop

The sperm donors They are essential people to give a bit of hope to families who cannot conceive children due to different issues related to their health or even the biological impossibility of doing so. But sometimes this is something that can go very wrong, as has become clear with the case of sperm donor 7069a Danish man whose semen was used to conceive 197 children and to whom has transmitted a hereditary disease apart from them that can be fatal.

The problem. what it seemed a standard donation process managed by the giant European Sperm Bankhas ended up uncovering some seams in assisted reproduction on the continent that were already announced. And this person has a mutation in their DNA, specifically in the TP53 gene, which is associated with a Li-Fraumeni syndrome.

An extremely rare disease that is transmitted through genetics that drastically increases the risk of suffering from multiple types of cancer from childhood. Something that implies that part of his descendants will have a high mortality because of all these tumors. Something that immediately set off alarm bells.

A mosaic patient. Donating sperm is a laborious process due to the number of studies that have to be passed, which include a genetic panel to rule out those donors who have serious diseases that can be transmitted to their offspring. But in this case this disease screening ended up failing. All because it is a mosaic patient.

This donor managed to overcome all the medical filters because his genetic alteration did not occur in all the cells of the body, but that was only in his sperm and also only in 20%. In Spain this is something that can be overlooked since the genetic panel is done with a simple blood sample and without analyzing the genetic material of the sperm.

Green card. The fact of doing a blood test caused a repeated false negative that led to this serious problem. Furthermore, two decades ago screening focused on specific diseases such as cystic fibrosis with the aim of not fertilizing an egg that also had this alteration.

But in the end this donor had a green card until 2023 when the sperm bank blocked his donations.

The regulatory problem. If biology explains why the flaw was not detected, bureaucracy explains why it spread so much. And this donor has highlighted the many seams that exist in Europe in terms of assisted reproduction.

To give us an idea, andn Spain the legislation establishes that a donor cannot have more than six children (including their own), causing their donations to be blocked when they reach that limit. But in Spain this person has 35 children… Something that explains why there is no centralized registry that cross-references data with foreign banks. Spanish clinics import the samples relying on the data of origin, but they have no way of knowing if that donor has already reached their quota in another country or even in another Spanish clinic.

Disparity of criteria. In addition to not having a common databaseThere are countries like Denmark that allow you to have up to 12 children or Germany that sets it at 15. Something that is also added to the fact that in Spain there is a large number of egg donations and attracts thousands of foreign patients, which increases the complexity of traceability.

This lack of communication allows the existence of “super donors”, men who, following the law in each country individually, end up having hundreds of descendants globally, increasing not only the risk of the spread of rare genetic diseases, but also that of accidental endogamy between half-siblings who are unaware of their relationship.

The solution. Seeing the serious consequences that this lack of control can have at the European level, the solution is very simple: have a European donor registry. In this way, each clinic or public service that performs a fertilization leaves it registered so that anywhere in Europe it is known that that donor has several children in another country.

But this would also make it much easier to trace the problem that a child has presented and the possibility that the donor is to blame through his or her genetic material. This is something that have already requested eight EU Health Ministers and about which there is currently no news on the matter.

Images | Elena

In Xataka |