Medical geneticists, genetic diseases and services in Brazil in the age of personalized medicine

Abstract

Aim: In anticipation of the implementation of personalized medicine in Brazil the authors assessed the characteristics of its medical genetics workforce together with the distribution of genetic diseases and services across the country. Materials & methods: The authors used demographic data on medical specialties, and summarized data from the public and private healthcare systems on live births, hospitalization and mortality, for the years 2019 and 2020. Results: The distribution of medical geneticists (MGs) overlapped the country-wide distribution of genetic diseases and services examined, indicating that ∼30% of the patient population has access to a MG specialist. Graduate specialism in medical genetics, registered MGs and suitable workplaces were concentrated in the south and southeast regions, leaving the north and northeast deeply underserved. Conclusion: MGs are concentrated in the wealthiest and most populated areas, while other regions have very limited services. These inequalities should be addressed for a successful transition to personalized medicine.