the future is here

When we go to buy a shirt, some shoes or any other type of clothing, one of the first things we look at is the size. We are fully aware that not all sizes fit our body and fit us well.

Each person has a different set of genes than everyone else.. This makes us different outside (height, weight, etc.), but also inside. One of the consequences is that the human body deals with diseases and reacts to treatments differently in different individuals. A classic example is that a given therapy may be more effective or have more side effects in some people than in others.

So, just as different sizes are made to adapt clothes to the body of each person, Could medical treatments also be tailored to individual needs? That is the goal of precision (or personalized) medicine, an emerging discipline that studies the molecular characteristics of our body to guide doctors in the detection, diagnosis, prevention and treatment of a specific disease in a specific person.

In other words, precision medicine focuses on the patient to adapt the treatment and improve all aspects of their healthcare.

Precision medicine tailors treatment to the patient. Made by the authors with Biorender, Author provided

Knowing the genetic profile is essential…

The complete sequence of the DNA that makes up the genome of a human being was not obtained until very recently, on March 31, 2022, despite the fact that the first sequence was published 11 years earlier.

This is a very important milestone. The genome is, in a way, an instruction book that contains all the information that determines the development and functioning of a person.

Currently, the technology that allows DNA sequencing has improved enormously. Much of the genome of different individuals can already be determined and compared relatively cheaply and quickly. This comparison provides important data on a person’s susceptibility to disease or their response to certain environmental factors or treatments.

For example, genome sequencing makes it possible to find out if there have been changes (mutations) in certain regions of DNA associated with specific diseases. This is essential information to be able to treat the disease more specifically..

It’s more, it is also to avoid or prevent certain pathologies in individuals more likely to suffer them. For example, for the same gene there are variants, called polymorphisms (something like the synonyms of a word), which increase the chances of suffering certain diseases to the individual who carries them. Knowing, for example, that a person has a genetic polymorphism that predisposes them to breast cancer, preventive measures can be taken so that cancer does not develop in the end.

… but other data is also important

Being fundamental, genetic information has to be complemented with other types of information, both molecular and clinical, or from the patient’s environment.

In this sense, it is not only possible to massively analyze the genome, that is, all the patient’s DNA, but also many other molecules related to the development of a certain disease can be examined through other technologies called omicssuch as transcriptomics, proteomics, metabolomics, lipidomics, metagenomics, etc.

The clinical, epidemiological, environmental information, and that provided by the technologies omics it is not analyzed only individually, but in conjunction with data from thousands, or even millions of patients. All these data must be integrated and interpreted before they can be applied individually in clinical practice..

Namely, it is necessary to analyze the differences between individuals and connect them with the diagnosis, evolution and treatment of a disease. This requires complex and relatively sophisticated data analysis tools based on artificial intelligence or machine learningas well as expert personnel in bioinformatics and biostatistics.

An example: HER2 positive breast cancer

Between 15% and 20% of breast cancers overexpress a protein called HER2: These are so-called HER2-positive cancers.. This protein makes these tumors grow and spread faster than HER2-negative breast cancers.

In Europe, a HER2-positive breast cancer is diagnosed every six minutes., which means more than 100,000 women a year. The good news is that these pathologies respond better to treatment with drugs directed against the HER2 protein.

Very recently, a genomic test has been created that predicts survival and response to treatment in patients with HER2-positive breast cancer. This test measures the expression of 27 genes, information that, together with clinical data, makes it possible to better decide whether it is necessary to carry out a more or less aggressive anticancer treatment. Namely, would make it possible to apply milder therapies to certain patients, thus minimizing side effects.

Precision medicine can be useful not only for the treatment of cancer, but also for many other diseases, including infectious diseases.

For example, there are people called elite controllers, which are capable of controlling the infection of the AIDS virus (HIV) by themselves. Nevertheless, most individuals infected with this pathogen require lifelong antiviral treatment. If it becomes clear why elite controllers keep the virus at bay, perhaps that information will help better treat those who don’t.

In conclusion

Personalized medicine will make it possible to identify those individuals who are most predisposed to suffering from various diseases and who, therefore, can benefit from a specific strategy to prevent their development. Likewise, when the patient already has a certain ailment, its objective is to identify its clinical and molecular particularities and thus adapt the treatment to obtain the best results.

The information on which it is based to achieve this goal comes from the analysis and integration of genetic, molecular, clinical and environmental data of each individual. This will mean not only a change in the way medicine is applied, but also in the way of managing health resources.The Conversation

Isidoro Martinez Gonzalez, Head Scientist of OPIs, Carlos III Health Institute; Amanda Fernández Rodríguez, Miguel Servet Researcher at the National Center for Microbiology, Carlos III Health Institute; María Angeles Jiménez Sousa, Miguel Servet Researcher at the National Center for Microbiology, Carlos III Health Institute and Salvador Resino García, Scientific Researcher of IPOs, Carlos III Health Institute

This article was originally published on The Conversation. read the original.

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