Genetic disorders are among the leading causes of admission to neonatal and paediatric intensive care units. A precise and swift diagnosis can mean the difference between effective treatment and irreversible disease progression. However, Portugal still lags behind in adopting technological solutions that have already proven successful in other countries.
In 2023, a joint study by the Liège University Hospital and the University of Liège demonstrated the effectiveness of rapid whole genome sequencing (rWGS) in newborns. This technique reduced the turnaround time—from sample collection to report delivery—to under 40 hours. Among 21 cases analysed, 12 received a molecular diagnosis (57.5%), and in six of these, the mutation was de novo (i.e., not present in the parents). Furthermore, rWGS corrected clinical diagnoses in several cases, highlighting the complexity of diagnosing conditions in newborns. Two of the diagnosed newborns were even enrolled in clinical trials, demonstrating the immediate impact of this technology.
International Advances
In Belgium, where non-invasive prenatal testing (NIPT) has been offered in all pregnancies since 2017, progress continues. Despite having a population only slightly larger than Portugal’s (11.7 million people) and around 110,000 births per year, the country is considering the national and semi-centralised implementation of a rapid whole genome sequencing network, following the examples of the United Kingdom, Germany, the United States, and Israel.
The Impact in Portugal
Portugal, by contrast, only began offering NIPT in 2023 for pregnancies with a calculated risk between 1:101 and 1:1000— very different from the recommendation of the American College of Obstetricians and Gynecologists (ACOG), which advocates access to the test for all pregnant women. As for rWGS, the lack of a structured approach is even more apparent. With approximately 80,000 births annually, it is estimated that around 8,000 babies could benefit from a more precise early diagnosis.
The pressing question is: why has Portugal yet to take decisive steps in this area?
The technology exists, successful models are in plain sight, and the benefits are indisputable. Investing in the implementation of rWGS would be a crucial step to ensure that every newborn has access to timely diagnosis and, whenever possible, appropriate treatment. Delaying this change is to jeopardise the future of thousands of children and the progress of neonatal medicine in the country itself.
Article published in Observador: https://observador.pt/opiniao/diagnostico-genetico-rapido-uma-urgencia-para-portugal/
Sónia Pereira, Biochemist expert in genetic research
