To do this, it combines data traditionally used for diagnosis and treatment, such as signs, symptoms, family history, and complementary tests, with each person's genetic profile. With the advancement of science and technology, precision medicine can reach new heights, help save lives, and optimise healthcare.

Precision medicine is an approach that considers individual characteristics, such as genetic variability, environment, and lifestyle, for the treatment and prevention of diseases. Cancer, neurodegenerative diseases, and rare genetic conditions are among its main targets.
In recent years, data generated from the use of electronic health records, genetic tests, big data analysis, and supercomputing have brought advances to this area, allowing for more assertive predictions regarding the effectiveness of treatment and prevention strategies for a given disease for specific groups of people.

The main difference between precision medicine is the degree of dependence on data, mainly genetic information, which is relatively new to the doctor’s toolkit but has prospects for major advances in the coming years.

Often, people who share the same disease have different responses to the same medical treatment. Pharmacogenetics - an area that studies how genes affect the response to certain medications - is one of the foundations of precision medicine. This knowledge allows us to identify which patients are most likely to benefit from a specific medication or experience more serious side effects.

In addition to helping doctors select the most effective and safe treatment approach according to the specific characteristics of each patient, precision medicine is also a prevention tool. Through genetic analysis, it is possible to identify a person’s susceptibility to certain diseases, even before they manifest clinically, enabling early screening and prevention.

Genetic tests are therefore extremely important for precision medicine, as they can predict which diseases a person is most at risk of developing and which treatments work or not for a specific patient. Increasingly faster and cheaper, they offer researchers the opportunity to collect larger volumes of data from more diverse groups of people.

By crossing genetic data with clinical, pharmaceutical, and socioeconomic information, researchers can verify patterns in the effectiveness of specific treatments and identify genetic variations that may be correlated with success or failure.

Despite the great potential of precision medicine, some aspects need to be improved:
Accessibility - many of the technologies needed for precision medicine were recently developed in Europe and are not yet accessible to the entire world.

Ethical, social, and legal issues - the protection and privacy of study participants, as well as the confidentiality of personal and health information, are essential. In addition, they must go through a rigorous consent process to record awareness of all the risks and benefits of the research.

Costs - technologies for sequencing large amounts of DNA are expensive, and medicines developed to treat diseases based on molecular or genetic variations are likely to be expensive. More investment is needed in scientific research, technological tools, and computerisation of healthcare systems to enable integration and easy access to patients› health data.

For more information please contact Grupo HPA Saude on (+351) 282 420 400.