Ceará has recently established free collection points for genetic testing specifically for the identification of rare diseases within its public healthcare system. These collection services are available at two notable hospitals in Fortaleza: the Infantil Albert Sabin Hospital and the Universitário Walter Cantídio Hospital. This initiative is part of a pilot project launched by the Brazilian Ministry of Health, aimed at enhancing the availability of advanced genetic testing for patients in need of timely diagnosis.

The new program introduces an innovative genetic test known as Whole Exome Sequencing (WES), which can potentially address the needs of up to 90% of patients requiring such evaluations in Brazil. Historically, patients faced significant delays in receiving diagnostic confirmations, often waiting several years for results. With the implementation of this initiative, the Ministry of Health has highlighted a considerable reduction in diagnostic waiting times; results will now be provided within six months, a drastic improvement from previous delays that could extend up to seven years.

This advancement is a significant step forward in the public health sector, as it not only speeds up the diagnostic processes for patients but also ensures that more individuals have access to essential healthcare services. The state of Ceará is leading the way in enhancing genetic diagnosis capabilities in Brazil, addressing a critical gap in health services that has affected many families coping with rare diseases. The samples collected will be sent to specialized laboratories in Rio de Janeiro for processing, underscoring the collaborative efforts to improve healthcare outcomes across the country.