“What do you want it to be, girl or boy? What I want is for him to come healthy ”. This phrase, which many times seems like a too typical answer, is one of the greatest concerns of the future mother or of the couple. The reality is that what is desired is that the children are born healthy, even more so knowing that there are disorders that are transmitted to the offspring, despite the fact that the couples are asymptomatic. And, many of the serious diseases have a known genetic basis. Luckily, reproductive genetics can help you have a healthy child.
How can reproductive genetics help me if I want to have a child?
“Carrying out genetic studies on women and couples who want to be parents represents a new entity to the concept of family planning. “Prevention” when facing pregnancy desire is a fundamental tool that places preventive medicine as the maximum representation of guarantee and safety, with a clear objective: a healthy baby at home “, explains Dr. Josep Pla, head of the Reproductive Genetics Unit at IVI.
Let’s put figures on this issue: in developed countries, recessive disorders account for around 20% of infant mortality and 10% of pediatric admissions. Although individually it is not common, according to the World Health Organization (WHO)In the general population, at least 1 in 100 couples has a high chance of passing a serious genetic disorder to their child.
Hereditary disorders and preconception genetic tests
“As a way of prevention, preconception genetic tests allow us to report on the risk that a person has of conceiving children with X-linked autosomal recessive and recessive disorders. This allows us to make informed decisions about reproductive options. Carrying out a genetic test before pregnancy, in a generalized way among women or couples who want to start a family, would help reduce the prevalence of these inherited disorders “says Dr. Pla.
During the last 20 years, taking into account the context of unprecedented advancement of genomic technologies, more than 1,300 recessive inherited disorders have been detected, with a mild to severe impact on health and life expectancy.
Among the most frequent diseases among the population, with a high frequency of carriers, some of those that we find are:
- Cystic fibrosis (1 in 25-30 people is a carrier)
- High and beta thalassemia (1 in 25-30 people is a carrier)
- Non-syndromic hearing loss (deafness) (1 in 30-40 people is a carrier)
- Spinal muscular atrophy (1 in 45 people is a carrier)
- Congenital adrenal hyperplasia (1 in 50 people is a carrier)
Our goal is to bring healthy babies to the world
“The objective of IVI is to achieve healthy babies, either among women and couples who need reproductive treatments to achieve pregnancy or those who rely on science, through genetic study to ensure their reproductive results. Under this premise, we systematically offer genetic screening tests in assisted reproduction centers. In this sense, there are countries where preconceptional carrier screening is indicated for any couple with a reproductive desire, through family medicine, as is the case in Israel, for example ”, adds Dr. Pla.
Each person carries between 3 to 5 recessive genetic mutations, which does not have to mean suffering from the disease. But, in the case of achieving a pregnancy together with another person who carries the same altered gene, the risk of the children suffering from this disease is 25%.
“Based on this reality, years ago we chose to make the so-called genetic compatibility test available to our patients, thanks to which we can find out what mutations each individual presents and if there is a risk of transmission to offspring. Whatever the result, from the genetic counseling service we explain to our patients the reproductive options available to them to achieve their goal with the greatest guarantees. Furthermore, this test is obligatorily performed on all our donors, in order to offer patients who make use of these donated gametes the greatest safety in their processes ”, explains Dr. Josep Pla.
Reproductive genetics is present, but above all future
In recent years we are experiencing a revolution, which shows that genetics is here to stay. The genetic counselor is already a key figure in the assisted reproduction process, helping patients to have greater decision-making power.
“This revolution is not going to stop. The growth that we have experienced in genetic tests, together with the significant decrease in their price, will make it possible. The future of assisted reproduction is clearly going to be influenced by genetics. The tendency to include genetic counselors, as we did at IVI years ago, is increasingly being promoted to accompany and facilitate this type of information to patients “, concludes Dr. Pla.
As explained by Dr. Pla, the future of genetics in assisted reproduction can be approached from 3 areas:
- The study of each case, through genetic tests that allow us to know in a concrete way the obstacle that separates the patient from motherhood / fatherhood, in order to offer personalized treatment.
- Increase in the number of preconception studies, with which a solid model of Preventive Medicine can be generated. In this way, some diseases that do not yet have a known cause can begin to identify the reasons and be able to choose reproductive options.
- Genetic editing, which allows to correct or alter genetic information of an individual. It has been a promising field for years, but it was held back, in part, by the legal and ethical issues surrounding it.
