The Hospital de Clínicas (HC) at Unicamp in Campinas, São Paulo, has become the only accredited institution in the state to collect samples for Whole Exome Sequencing (WES), a new genetic test that is being made available by Brazil's Unified Health System (SUS) for the diagnosis of rare diseases. This initiative is expected to cater to 90% of rare disease cases in Brazil, greatly reducing the diagnostic waiting period for families from an average of seven years to approximately six months. The availability of such services in the private healthcare sector ranges between R$ 2,000 and R$ 5,000.

The WES test analyzes the regions of DNA that harbor the majority of genetic mutations by utilizing samples from blood, saliva, or oral mucosal scraping. The test plays a crucial role in confirming diagnoses, particularly following standard newborn screening tests, commonly known as the 'teste do pezinho.' It is designed to assist in identifying rare diseases that often present significant challenges in reaching a conclusive diagnosis within the traditional healthcare framework.

The announcement of the service has implications for both public health policy and the families affected by rare diseases. By streamlining the process of diagnosis, the program could potentially improve the life quality of many patients and mitigate the emotional and financial burden on families. With this advancement in healthcare services available through the SUS, it underscores the ongoing efforts towards enhancing accessibility and the quality of genetic testing in Brazil.