In addition to being Coordinator of the Balearic Islands Genetics and Genomics Unit, Dr. Iciar Martinez He also directs the Son Espases Clinical Genetics and Molecular Diagnosis Unit, the only one on the islands. He advocates precision and personalized medicine as a way to enrich and, above all, alleviate the Balearic health system.
What is precision medicine?
In theory it has been done all your life: you go to the doctor, and depending on your symptoms they indicate a pathology and some treatments. What happens is that the diagnostic tools have been changing. Now we have within our reach the sequencers, which are used to decipher the genetic material, so we can make a more personalized medicine based on each one’s genome. For example, determining which specific drugs are useful for a patient, or if the dose needs to be reduced or increased… Furthermore, it is useful both for healthcare medicine and for public health, because the main objective is to prevent the appearance of diseases.
Is it the same as personalized medicine?
Not exactly, although it is true that this type of medicine is getting more and more ‘P’: personalized, predictive, preventive, participatory, population-based and now precision. That is, the same procedures are used for different purposes. Both to give each patient the ideal treatment and to study populations, which interests us to prevent hereditary diseases. With this medicine we have also been able, for example, to reduce the waiting time to diagnose rare diseases.
When is a patient referred to this type of treatment?
Depends. If it is a cancer patient with a common tumor, it usually goes through the established protocols, but if it is a rare tumor, a molecular study is carried out and it is determined which variant it expresses to recommend the best treatment. If it is genetic and it is a child, they usually come through clinical genetics consultations, which are only in Son Espases. Patients also come through the pharmacogenetic area, for example those with multiple sclerosis. We study whether the person has a specific mutation, because the drug being administered could be contraindicated or require a higher or lower dose depending on their genome.
What situation is the Balearic Islands in?
We are several steps ahead of other communities, and we must continue working in this direction because, after all, precision medicine is one of the branches that will grow the most in the near future. Here we have an advantage, and it is that everything is coordinated from the same center. In other autonomies it is more blurred because there is more population and many referral hospitals. On the other hand, on the islands we have a very innovative model that other regions are trying to imitate, such as Madrid, Catalonia or Galicia.
What challenges does precision medicine face in the coming years?
Some are cheap, such as obtaining different reagents and diagnostic methods, taking into account that the devices we handle are approximately five years obsolete. But above all, that citizens are aware of the importance of this branch of medicine. In fact, the ideal is to reach a future in which the genome of all citizens is sequenced as soon as they are born, as is done, for example, in northern countries such as Finland or Iceland, so that patients have this information at their disposal. But you also have to take into account that this implies a huge amount of teras: the sequences take up a lot of virtual space in clouds or servers, and you have to be aware of that because, in the end, a large part of the budget that is allocated will go to storing all information.