EU initiative aims to improve early detection of rare genetic diseases
SCREEN4CARE seeks to screen 25K newborns for more than 240 rare diseases
An initiative in the European Union (EU) aims to speed up the diagnosis of rare genetic disorders such as Alagille syndrome in newborns using comprehensive genetic testing.
The research project, called SCREEN4CARE, is being funded by an EU private-public partnership called the Innovative Medicines Initiative.
“Genetic screening offers the significant benefit of providing more accurate data for more rare disease conditions,” Alessandra Ferlini, MD, PhD, an associate professor of medical genetics at the University of Ferrara in Italy and the project’s lead researcher, said in a press release.
Alagille syndrome — a genetic disease marked by abnormalities in several organs, including the liver, as well as specific facial features — is one of the thousands of rare genetic diseases that have been documented.
Rare genetic diseases affect more than 30 million people in Europe
While individually rare, these conditions collectively affect more than 30 million people in Europe, and millions more worldwide. The vast majority of known rare disorders are caused by genetic mutations with symptoms appearing during childhood.
To help improve care for people affected by rare genetic disorders, many countries have implemented genetic newborn screening (NBS) programs, where all babies are tested soon after birth for certain rare conditions.
Getting a diagnosis soon after birth, and often before any symptoms even appear, “would enable families to understand what is happening with their child, find the necessary support and care, and receive financial assistance,” said Gulcin Gumus, PhD, senior manager of research and policy at Eurordis, an alliance of more than 1,000 rare disease patient organizations that is part of the SCREEN4CARE initiative.
Although NBS holds great promise to improve the lives of kids with rare genetic diseases, right now this type of screening usually looks for specific biomarkers of a few dozen particular disorders.
In addition, current genetic NBS programs vary widely between European countries. For instance, Italy screens for more than 40 genetic diseases, while Romania does so for only two.
Using next-generation sequencing for faster, comprehensive genetic testing
The SCREEN4CARE project takes NBS to the next level by using next-generation sequencing, a faster and comprehensive assessment that can determine the entire genetic code of an individual.
As such, next-generation sequencing should be able to identify the vast majority of disorders whose genetic cause is known, including Alagille, which can be caused by mutations in the JAG1 gene or the NOTCH2 gene.
“Adopting a uniform approach to newborn screening across EU Member States is an important way to attempt to ensure equitable and timely access to rare disease diagnosis for European citizens,” said Aldona Zygmunt, director of policy and public affairs at Pfizer, an industry partner of SCREEN4CARE.
The project was set to launch at sites in Italy and then expand to other European countries, running through the end of September 2026.
The goal is to screen about 25,000 newborns for more than 240 rare genetic diseases that either already have available treatments, such as Alagille, or may have direct or indirect therapeutic applications. Participation will be voluntary for parents who choose to opt in to screening for their children.
Adopting a uniform approach to newborn screening across EU Member States is an important way to attempt to ensure equitable and timely access to rare disease diagnosis for European citizens.
SCREEN4CARE also uses AI to identify patients at early disease onset
SCREEN4CARE also uses artificial intelligence to build algorithms to identify patients at early disease onset based on clinical features and symptoms.
“Our ambitious goal is to evaluate the validity of our multi-pronged approach to shorten the time to diagnosis for all patients affected by [rare diseases], improve value-based healthcare resource utilization, and hopefully reduce the suffering of millions of European citizens,” the researchers stated in the project’s objective.
In addition to helping diagnose children with rare diseases, SCREEN4CARE also holds promise as a useful way to collect large-scale data on these individually rare conditions.
Researchers on the project are working to answer complicated questions like how the data are stored and who will have access, ensuring that sensitive information is kept private, to help facilitate such large-scale research.
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