Hospital Oswaldo Cruz and Grupo Fleury have just started one of the most important projects carried out so far on the health of the Brazilian heart. The institutions will carry out the first survey of the genetic profile of the population associated with cardiovascular diseases, the main causes of death in the country. Today, the information used in this type of assessment is based on analyzes performed in the United States, Europe, and Asia. Although much of the genetic material related to diseases is universal, it is essential to identify the specific characteristics of our inhabitants, even in view of the enormous heterogeneity resulting from the miscegenation of races that marks the people of Brazil. Only in this way will it finally be possible to create a tailored genetic risk score to also meet national specificities, an important tool in prevention and more accurate diagnosis. “We are taking an unprecedented step towards validating a risk score for cardiovascular diseases that will translate the genetic variability of Brazilians”, says Álvaro Avezum, director of the International Research Center of Hospital Alemão Oswaldo Cruz and principal researcher on the project.
The research will examine the DNA of 3,800 individuals who are currently being recruited at 45 centers in 19 states across the five regions. Half of the participants will be people who have suffered a heart attack, stroke or peripheral arterial disease. The rest are healthy volunteers, who will integrate the control group. The first results are expected for 2024. The data will be integrated into the Ministry of Health’s National Genomics and Precision Health Program – Genomes Brasil, as the project is part of a partnership between Oswaldo Cruz and the Federal Executive through the Program of Support for the Institutional Development of the Unified Health System (PROADI-SUS), consisting of six non-profit hospitals of excellence and the ministry. The program consists of the development and adoption of initiatives that improve public health care, by institutions, in exchange for tax immunity in the amount corresponding to the project. In this case, there will still be investment from Grupo Fleury. Of the total of twenty million reais, eight million will be the responsibility of the hospital and twelve million, of Fleury.
The survey will bring to light as yet unknown genetic factors associated with risk elements for cardiovascular disease – high LDL (bad cholesterol), diabetes, hypertension and obesity – and their relationship with behavioral risk factors such as smoking and physical inactivity, as well as those whose impact occurs independently. In addition to serving as a basis for the creation of the score, the information can also be used in several epidemiological studies, which will increase the understanding of how the manifestation of diseases occurs according to regions, social groups or age group, for example. “It will be possible to make cuts according to the objective of the work”, says Haliton Alves de Oliveira Junior, manager of Research and Projects at Oswaldo Cruz.
The portrait to be obtained makes it possible for Brazilian cardiovascular health care to become increasingly personalized, helping to consolidate national cardiology within the so-called precision medicine. The area is today one of the most important in terms of assistance and is based on a deeper knowledge of the genetic characteristics involved in the emergence and evolution of diseases. With the information in hand, professionals are able to diagnose and design targeted and therefore more efficient treatment strategies. Gender data have been used in the creation of tests known as genetic panels, which detect changes in DNA linked specifically to the disease. “The idea is to develop tests of the kind suited to the genetic material of Brazilians”, explains Edgar Gil Rizzatti, Executive Director of Medical and B2B Business at Grupo Fleury.
In addition, knowing the weight of genes in the manifestation of diseases allows for closer monitoring of individuals. “Depending on the impact they have on certain people, the follow-up of the whole family may be recommended”, explains Maria Carolina Tostes Pintão, Medical Head of Research and Development at Grupo Fleury.
The findings will have to be validated by other studies, as good science dictates. But knowing that answers have already begun to be sought is undoubtedly great news.