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.
Keywords: Brazil; healthcare systems; medical genetics; personalized medicine; rare diseases.
Personalized, or precision, medicine promotes the incorporation of information on an individual's genetic profile, and environmental and lifestyle exposures in the clinic to prevent and treat diseases. While personalized medicine is closer to being a reality in industrialized countries, it is unclear whether the conditions for its implementation exist in developing nations. The authors assessed the situation in Brazil, a country with a free-at-point-of-care universal health system, and private health insurance coverage for ∼30% of its population. The authors found that a majority of medical geneticists and genetic services were based in the south and southeast regions, which are also the wealthiest and most populated, leaving the other regions largely underserved. In addition, the authors identified a need to curb public–private healthcare asymmetries in medical genetics in order to reduce the observed inequalities.