Medical genetics workforce in Brazil: practitioners, services, and disease distribution

Abstract

Purpose In anticipation of the implementation of personalized medicine (PM) in Brazil we assessed the demographic characteristics of its medical genetics workforce together with the distribution of rare genetic diseases (RGD) and hereditary cancer syndromes (HCS) across municipalities in the country. Methods We used demographic data from an earlier report on medical specialties, and open databases providing summarized data on the public and private healthcare systems, for the years 2019 and 2020. In the public system we considered RGD live births and hospitalizations, and HCS mortality. In the private system we obtained data on RGD, HCS and genetic counselling appointments. Results The 332 registered medical geneticists (MGs) were mostly female, attended a public medical school, and were predominantly registered in the Southeast. The distribution of MGs overlapped the country-wise distribution of all types of genetic disease and service examined, indicating that ~30% of the patient population has access to a MG specialist. Conclusion The Brazilian MG workforce is concentrated in the richest and most populated areas and while it covers a significant proportion of the population there are vast regions with very limited services. The public health system should address these inequalities for a successful transition to PM.

The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil)

“…Bueno et al, 2014). In these places, it is sometimes necessary a certain degree of reorganization of health services to guarantee full and equitable access to health, given that they are rare diseases concentrated in small municipalities with notable economic limitations and with a small number of professionals with expertise in genetic diseases(Bonilla et al, 2021;Horovitz et al, 2015).The delay in diagnosis of MPS VI can be worse in cases without a family history and in some regions where medical genetics services are scarce. Early diagnosis and appropriate care and treatment, such as enzyme replacement therapy (ERT), are critical for better disease-related outcomes and for improving patients' quality of life and prevention of irreversible damage.…”