It is important to highlight the importance of genomic and genetic studies for the early prevention of certain diseases. Over time, the study of genetics has proven to be essential to study the transmission of diseases between generations and to estimate their predisposition and risk.
“For some years now, genomics has been pointed out as the main ally of the medicine of the future and as such, it is a very important area within various medical specialties. The study of the genome helps health professionals to understand the role of genes and their relationship with the functioning of the organism. Consequently, doctors can apply this knowledge for the prevention, detection and treatment of certain diseases”, indicated Luciana Rodrigues, Executive Superintendent of Dasa Genómica Latam.
The contributions of these sciences to human health are linked to three fundamental concepts: prediction, prevention and personalization.
In the first place, the tools of genetics and genomics applied to health offer key information to anticipate the risk of suffering from certain diseases. In turn, they facilitate the diagnosis of malformations or congenital pathologies in early stages of pregnancy. Likewise, they anticipate the presence of diseases of genetic origin allowing their opportune approach and improving the quality of life of the individual.
Thanks to this, the patient can increase their chances of cure or improve their quality of life, as well as rely on the design of therapeutic strategies that improve their survival. It also enables the adoption of certain preventive behaviors or treatments to reduce the risk of manifestation of certain diseases.
To enhance prediction and prevention, genetic and genomic knowledge has been able to focus on the unique characteristics of each individual, enabling preventive or curative treatments specifically designed for that person. In turn, it facilitates the definition of nutritional strategies tailored to the patient and indicates the daily habits or behaviors that may be more harmful than for other people.
Help cancer patients
Oncology is one of the specialties in which genetics has had the greatest impact.
In Argentina, according to the National Cancer Institute (INC), more than 11,000 cases of prostate cancer are diagnosed each year, a registry that represents 20% of all malignant tumors in men and 9% of all cancers of the prostate. country.
In breast cancer, one of the most frequent in the country, genetic tests help not only to provide information on familial predisposition, but also to indicate personalized treatment.
Genetic testing can help the patient receive a less aggressive and more effective chemotherapy, as appropriate, or to opt for a drug treatment or new strategies, such as immunotherapy.
Treatment of rare diseases
On the other hand, genetic tests contribute to the treatment of rare diseases.
A rare disease is categorized as such due to its low prevalence, since it affects one in 2,000 people. It is estimated that there are around 7,000 types of rare diseases in the world. 80% of cases are of genetic origin, so certain diseases are rarer in some areas than in others.
In Argentina it is estimated that approximately 3,200,000 people suffer from some EPOF. Given that the impact of rare diseases is familiar, we can speak of 3,200,000 affected families in our country. Less than 10% of these pathologies have specific treatment, but this does not imply that there are no ways to improve the patient’s quality of life.
Due to the unusual characteristics of these pathologies, people can consult at least seven doctors before reaching a correct diagnosis.
For this reason, genetic tests are relevant, since most of these diseases can be detected in this way, allowing access to a better quality of life.