Precision medicine: your DNA is a key tool to take care of your health

July 15, 2024

Nowadays we have all heard about Big Data, Artificial Intelligence, algorithms... and these are terms that we usually relate to the world of business or new technologies. But what if they could improve our health? This is where precision medicine comes into play. And what is it? The most commonly used definition is as follows:

Precision medicine is the concept of customizing the treatment and prevention of diseases by considering differences in genetic, environmental or even lifestyle factors specific to groups of people.

This means that precision medicine is an emerging clinical approach based on providing the patient with the most personalized therapy possible. To achieve this personalized therapy, the medical professional's decision making will be based on clinical, genomic, environmental and socioeconomic data, thereby building a patient profile in the greatest possible detail.

This complete patient profile is what would be called a phenotype.

Customized medicine to preserve your well-being

Does this mean that the therapy will be specifically designed for me as a patient? Not exactly. It means that the medical professional will be able to find the therapy that best fits your patient profile, your phenotype.

✅ This small difference is what separates the terms customized medicine from precision medicine, and it is what makes the term precision medicine more accurate, although the two tend to be used interchangeably.

Precision medicine methods identify patient phenotypes with less common responses to treatment or unique health needs. We already know that the same treatment, for example, the same drug, does not affect us all equally.

Who doesn't know someone who has had to adjust the dosage of a drug, and adjust it (always following medical advice) until they find the one that works for them? In this simple example, thanks to precision medicine, the doctor will be able to give a more effective prescription from the beginning of the treatment.

Data, data and more data for a better treatment (and even to avoid it)

Another quite common case is that of cancer treatments. There are very aggressive types of tumors that need to be treated quickly, but for which there may be as many as 8 different treatments.

How does the oncologist know which treatment will work best for a particular patient? By knowing the specific mutation of the cancer diagnosed in that patient, which only requires a blood sample and a genetic panel, and by knowing the patient's medical history. Data, data, data.

The prevention and early detection of diseases is one of the major objectives of this medical approach.

But what's more, precision medicine not only helps to provide better treatment, but it also sometimes helps to prevent that treatment from ever becoming necessary.

✅ We can find out whether the patient has a certain predisposition to diseases, such as cancer, by knowing both the phenotype and the genotype (set of genetic characteristics), and thus prevent the disease.

The role of AI in precision medicine

If we add to this knowledge, to the data we have, the generation of AI algorithms, we can have in our hands mathematical models for disease prevention. AI takes advantage of calculation and inference methods to generate ideas, allows the system to reason and learn, and enhances decision making by doctors.

AI generates ideas, reasons, learns and empowers medicine.

All of this sounds futuristic or perhaps even exclusive, but the truth is that precision medicine is here and it is here to stay.

The final push for precision medicine has been the rise of genomic testing. The cost of sequencing, of reading our genome, has dropped from hundreds of millions of euros to hundreds of euros, which has largely contributed to the fact that tests that were previously exclusively for research are now normal.

It is worth noting that, for example, there are panels such as those for the BRCA genes that are now routine and make it possible to diagnose predisposition to breast cancer. In addition, health systems are incorporating more and more genomic tests into their portfolio of services, and national and European initiatives are being carried out to facilitate the integration of genomic data with the rest of the clinical data.

Healthcare systems are incorporating more and more genomic tests into their portfolio of services.

In conclusion, thanks to precision medicine, and the inclusion of your genetic data in your medical record, your trusted doctor will be able to treat you in the most efficient and safe way, with the single purpose of preserving your health and the health of those around you.