Study Finds Late Diagnosis and Treatment Barriers Impact Those with Rare Genetic Diseases
Working Group (GT) on Innovation in Genetic and Rare Diseases: Equity and Sustainability of the Unified Health System (SUS) will be launched, promoted by the Center for Genetic Diseases (Cigen) of the Faculty of Medicine (FM) of the University of São Paulo. The objective is to bring together specialists, representatives of the Judiciary and civil society organizations to discuss the challenges faced by patients with rare diseases.
In Brazil, it is estimated that 13 million people live with rare diseases, which affect up to 65 people per 100,000 inhabitants. In the city of São Paulo, 6% of the population, or approximately 720,000 people, have one of these conditions, according to the Ministry of Health. These diseases, often chronic and degenerative, significantly impact the quality of life of patients and their families, who face barriers in accessing appropriate treatments — with approximately 7,000 rare diseases currently, in 95% of cases there is no treatment, only palliative care or rehabilitation services.
Patrícia Coelho de Soárez, professor at the Department of Preventive Medicine at FMUSP, adds: “There is a low availability of treatments and, often, patients and their families need to resort to the courts to obtain approval for medications in the SUS, when there are therapies for certain diseases.”
Treatment improvements
The working group, which includes the participation of 13 USP departments and experts in genetics and genomics, aims to discuss both access to diagnostics and treatments and the sustainability of the SUS. Based on monthly meetings and symposiums planned to consolidate discussions and proposals, the specialist states that the project seeks to contribute to improving the quality of life of people with rare genetic diseases.
Among the difficulties faced by patients — in addition to access to appropriate treatments —, Patrícia mentions late diagnosis. In Brazil, there are only 342 geneticists, which represents 1.6 professionals for every million inhabitants, most of whom are concentrated in the Southeast and South regions. “It is such a long journey that, in international literature, it is called a diagnostic odyssey. Patients sometimes spend months or even years trying to obtain a definitive diagnosis,” she explains.