How has genetics evolved over recent years?
Dramatically and, most importantly, with great applications to people’s health. The majority of these changes have taken place since 2003 and the conclusion of the Human Genome Project, which decoded the human genetic map. This has meant that not only are we able to diagnose and prevent genetic diseases, but also treat these diseases in a more personalised way, basing treatment on the genes of each individual.
How can these developments benefit fertility?
In assisted reproduction we primarily use two techniques in the prevention of genetic diseases.
One is the Genetic Compatibility Test, also known as Genetic Matching, this allows us to confirm (before a pregnancy is conceived) that both progenitors are not carriers of the same genetic disease which could then be transmitted to their children.
Although this involves a simple blood test and is generally affordable for patients, it is still not really appreciated for what it is: an important development in the prevention of genetic diseases.
The reason why it is not more widely-used is simple: where there is a family history of a genetic disease or some symptomology people are conscious of the fact that it is present and want to avoid passing this onto future generations; however, being a carrier of a disease does not affect our health and, even though we don´t have any symptoms or a family history, we could all be carriers of some kind of genetic disease. Yet, if by coincidence, both members of a couple have the same gene alteration, that is to say, both are carriers of the same genetic disease, there is a risk that their children could suffer from this genetic disease. By knowing this information we can remove this risk.
The second technique is Preimplantational Genetic Diagnosis, this would be the next step after the Genetic Compatibility Test, or the first step if there was already a family history or if we were affected by certain genetic diseases. For example, if we were carriers of cystic fibrosis, or there were a family history of the disease (family members who had suffered from the disease), science makes it possible for us to remove chance from the equation of whether our children will be healthy or not. Thanks to PGD these patients can now have children knowing that they will be free from the disease.
In the laboratory the egg and spermatozoid are fertilised (in vitro fertilisation) and when the embryo evolves, a few cells are removed (biopsy) and examined to see if this embryo is affected or not by the disease. This means that we are able to select only those embryos which are not affected by the disease studied to transfer to the uterus.
It is estimated that 1 in every 100 new-borns has some kind of genetic disease. Do you think that society is well-informed about the importance of prevention in this area?
Probably not. We are talking about the type of hereditary diseases that are considered rare diseases because of their low prevalence rate, despite the fact that the majority of these involve a high level of disability and have a hugely negative impact on quality of life, we never think that it will happen to us, and thus we never think about using this technological development as a means of prevention. When we realise that prevention is the most important way to avoid children being born with diseases we will begin to use the tools that genetics has placed within our grasp.
“The goal still to be reached is the dissemination of these developments to the general public”
What would you highlight about the work of the Ginemed Foundation in the field of genetics?
This is exactly what the Ginemed Foundation’s role is: dissemination. All of these developments would not mean a thing if they were not applied to people, and this is why dissemination is so important. The Foundation organises meetings with patients who are affected by, or carriers of, genetic diseases, it publishes information in social networks and works with the media, for example with news programmes, to share expert opinions in this field.