Medical Genetics in Brazil in the 21st Century: A Thriving Specialty and Its Incorporation in Public Health Policies

Abstract

Brazil is a continent-size country with 203 million inhabitants, classified as a developing upper-middle-income country, although inequities remain significant. Most of the population is assisted by the public Unified Health System (SUS), along with a thriving private health sector. Congenital malformations are the second leading cause of infant mortality and chronic/genetic disorders and a significant burden in hospital admissions. The past two decades have been crucial for formalizing medical genetics as a recognized medical specialty in the SUS, as well as for implementing a new health policy by the Ministry of Health for comprehensive care for rare diseases. These public health policies had the broad support of the Brazilian Society of Medical Genetics and Genomics and patient organizations. Most comprehensive genetic services are concentrated in large urban centers in the South and Southeast regions of Brazil; with this new policy, new services throughout the country are progressively being integrated. The number of medical geneticists increased by 103% in a decade. Details on the policy and an overview of the availability of services, testing, human resources, newborn screening, research projects, patient organizations, and relevant issues regarding medical genetics in this vast and diverse country are presented.

Keywords: Brazil; genetic; medical genetics; public health policies; rare disease.

Figure 1

Map of Brazil showing the location of 32 services for rare diseases formally included in the network according to the National Policy for Comprehensive Care for Rare Diseases (updated June 2024).

Figure 2

Map of Brazil, showing the five regions of the country, the federative states, and the distribution of medical geneticists across the country (white dots) and residency programs in medical genetics (black arrow).