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Globally, 8 million children are born each year with a severe defect totally or partially derived from a genetic origin. The genetic compatibility analysis is a test that enables us to anticipate the existence of these mutations. The study carried out by Eugin also concludes that 43% of the people analysed carry at least one mutation, and that the most frequent are those related to cystic fibrosis, deafness or fragile X syndrome.

During the presentation of the study yesterday Dr. Guillen said that "all patients should be informed of the existence of the genetic compatibility test". In fact, Eugin was the pioneering clinic in Europe in applying a disease screening test on all its donors, which is something that it has been putting into practice for two years. In this regard, he stressed that "all future parents should know their options before having a child, including the risks of having a sick child."

In the field of Assisted Reproduction Techniques, Royal Decree-Law 9/2014, which establishes the standards for the evaluation of reproductive cell donors, requires that "an assessment should be carried out of the genetic load in relation to the existence of autosomal recessive genes according to scientific knowledge and the known prevalence in the donor's ethnic background."

Until now, with the exception of cystic fibrosis and karyotype, which were systematically requested of all donor candidates, the remaining genetic tests were carried out based on the family history and/or the ethnicity of the individual. Dr. Guillen says that this system "has clear limitations for several reasons: the information about our ancestors is often inaccurate, the phenotype does not always correlate with genetic origin and societies tend to be multiethnic. The solution is for all candidates to undergo a genetic compatibility test regardless of their ethnicity," he says.

The genetic compatibility test is a blood or saliva DNA study of the future parents, which allows us to detect whether the man or the woman are carriers of a genetic disease and can therefore pass it on to their children.

These tests detect the carrier status of each individual with respect to hundreds of genetic diseases with autosomal recessive inheritance or linked to the X chromosome. The diseases included are considered to be serious, in other words, they meet one or more of the following requirements: they cause an intellectual disability, require surgical or medical treatment for life, affect the quality of life and/or manifest in the foetus, newborn or early childhood.

The concept is not new. For a number of years, in specific geographic areas or ethnic groups, particular monogenic diseases with high prevalence have been screened: thalassaemia syndromes and sickle cell disease in Cyprus, Tay-Sachs disease in the Ashkenazi Jewish populations in the USA, or cystic fibrosis in the United States. "Now that it has become possible to expand or extend screening to hundreds of diseases and thousands of mutations - what we know as expanded carrier screening - is due to the technological advances derived from the Human Genome Project. It is technically possible and economically feasible," says Guillen.