5% of the & # 039; genetic matchings & # 039; of couple reveals pathologies transmissible to the child

All parents want the best health conditions for their children. That's why more and more people submit to genetic analysis, especially in order to avoid possible complications.

In this sense, the genetic pairing test – also called 'genetic matching of a couple'– conducted by Ascires analyzes the percentage of couples whose genes can bring some kind of complication to the baby: "Genetic pairing has two possible outcomes: high or low risk, 5% of the couples we analyze share mutations and are at high genetic risk , a percentage that matches the data that is handled internationally, "says the doctor Xavier Vendrell, responsible of the Unit of Reproductive Genetics in Ascires-Genomic Systems.

This 'matching' consists of a anticipatory genetic study that prevents the transmission of diseases to offspring. For this, a DNA analysis is made from a blood sample of the parents and their results are crossed, detecting possible common mutations that would give rise to hereditary pathologies that in most of the cases remain hidden.

"Normally we are carriers of some mutation and we do not even know it, the problem comes when two carriers come together"

"Many hereditary diseases are asymptomatic," says the expert, "which means that even if we have a mutation in the DNA, the disease does not manifest itself, since two mutations have to coincide: one that comes from the father and another that the mother transmits, we are usually carriers of some of these mutations and we do not even know it, but the problem comes when two carriers come together, this is where there may be a problem for the offspring, since we can transmit the disease to our kids".

Thus, the preventive study allows to detect 8,000 genetic mutations that, in case of being shared by the couple, give rise to one of the 300 common diseases that this test is capable of revealing. To be able to perform this test, only a blood sample is needed, which is sent to the laboratories to be processed. Subsequently, a report with the interpretation of results is sent to the doctor, together with the recommendation to request genetic counseling in case of high risk.

If any anomaly is detected, "parents are advised to request genetic counseling to inform themselves and plan their future pregnancy, allowing them to contemplate options ranging from a more specific medical control to the embryonic selection in assisted reproduction clinics, "says Vendrell.

4,000 parents resort to 'matching'

The possibility of anticipating a hereditary disease leads more and more people to rely on this type of evidence, more integrated in the gynecological and clinical consultations of Assisted reproduction. In this way, both couples seeking a natural pregnancy and those who resort to external donors have driven in recent years the demand for 'genetic matching' of a couple.

In this context, the Ascires-Sistemas Genómicos laboratories continue to work on this service, which has already been requested by more than 4,000 future fathers and mothers in just three years from its start-up. "In the case of couples that go to external donors, it is sought to guarantee that the person who has provided an egg or sperm has a low risk profile, thus avoiding the transmission of pathologies"explains Vendrell.

"The reproductive paradigm will change, the 'genetic matching' of a couple will become an absolutely routine test"

Currently, the entity continues working on new versions of this test, as well as expanding its genetic consulting service in all its network of clinics: "The reproductive paradigm will change," says the expert, "most young couples and the next generations will carry out this type of genetic studies before having children, so it will become a absolutely routine test. "

The biomedical firm is the first and largest Spanish company specialized in genetic sequencing, with almost two decades of experience in the field of molecular biology and genetics. The entity collaborates actively in numerous national and international R + D + i projects, with the aim of putting the latest advances in genetics at the service of society. Ascires focuses its activity on diagnosis and treatment, reinvesting annually an average of 20% of the benefits in R + D + i.