European neonatal screening aims for stronger, fairer fight against rare diseases | Health & Wellbeing

Dr Alessandra Ferlini has suggested that millions of people across Europe could be in need of medical help before they even realise it. Ferlini, a senior professor of medical genetics at the University of Ferrara in Italy, wants every baby born in Europe to be genetically screened for a range of rare diseases. Each of these diseases affects only five in every 10,000 people.

They are considered rare diseases, but there are more than seven thousand of them, affecting at least 36 million people in the European Union (EU) and touching the lives of one in seventeen Europeans. About 80% of rare diseases are genetic in origin; and of these, 70% begin in childhood. Rare diseases include a wide range of cardiovascular, gastrointestinal, dermatological and bone diseases, among many others. These include cystic fibrosis, haemophilia and sickle cell anemia.

“Genetic screening offers an important advantage because it provides more accurate data on rare diseases,” explains Ferlini, who leads a research project financed by EU funds and companies in the sector. Its aim is to speed up the diagnosis and treatment of rare diseases in Europe through genetic testing of newborns and data analysis using artificial intelligence.

The project, called SCREEN4CARE, is being developed over five years and will be completed in 2026. The team will begin trials in Italy in the coming weeks and then expand the experiment to other EU countries; in total, doctors will conduct genetic screening of about 25,000 newborns to identify 245 rare diseases for which there is a cure.

The sooner, the better

Neonatal genetic screening means that children with these conditions can be diagnosed sooner and therefore receive more effective treatment. It also has the added benefit of generating valuable data for researchers studying these conditions. “This will allow families to know what is happening to their child, to get the support and care they need, and to receive financial assistance,” said Gulcin Gumus, senior director of research and policy at EURORDIS, an alliance of more than 1,000 organizations representing patients with rare diseases.

EURORDIS participates in SCREEN4CARE, which includes more than thirty members from universities, research institutes and companies in fourteen European countries. Diversity in the consortium is a requirement for EU-funded research, as it ensures that the results bring concrete benefits to people.

SCREEN4CARE is supported by companies in the sector through the Innovative Medicines Initiative, an EU public-private partnership. According to a survey conducted by EURORDIS in May 2024, it currently takes almost five years on average to diagnose rare diseases in Europe. Screening would significantly reduce this period, leading to more timely treatment and more efficient use of healthcare resources.

The neonatal genetic screening method involves taking five drops of blood two days after birth and running them through next-generation sequencing tests. The process is faster than what is offered by current national programs, which screen for fewer rare diseases and use blood tests to detect metabolic or proteomic markers of disease.

Together we are more honest

Healthcare management is a national responsibility, and screening programmes vary greatly from country to country. In Italy, screening covers over forty diseases, while in Romania it covers only two. The SCREEN4CARE team aims to harmonise practices across the EU to make healthcare in Europe better and fairer.

“Adopting a harmonised newborn screening strategy across the EU is important to try to provide European citizens with fair and timely access to diagnostics for rare diseases,” said Aldona Zygmunt, director of policy and public affairs at pharmaceutical company Pfizer, which is an industrial partner of SCREEN4CARE.

Participation in the pilot program will be voluntary; only children whose parents want them to be tested will be included. As Ferlini explains, SCREEN4CARE still needs to address some issues, such as where the data will be stored, who will have access to the information, and who owns it until the children reach adulthood. These issues affect data privacy, a controversial topic given the sensitive nature of genetic and medical information. The EU has generally opted for strict data security measures.

Ability to create a database

Once privacy concerns are addressed, mass data collection represents a great opportunity in this area of ​​healthcare. Rare diseases offer researchers relatively little data to work with, especially when they are scattered across EU countries. This often prevents researchers from studying these diseases in depth and reduces the opportunity to improve diagnostics or develop more effective treatments.

The samples collected through SCREEN4CARE will initially be stored in the project’s data repository and will likely be stored in secure biobanks. The researchers hope to establish partnerships with EU initiatives such as the future European Association for Rare Diseases and the newly created European Health Data Space. The information collected during newborn screening through SCREEN4CARE will contribute to EU efforts to strengthen rare disease research.

The research described in this article has been funded by the EU Horizon programme. The opinions expressed in this article do not necessarily reflect the opinion of the European Commission. More information:

The article was originally published in horizonJournal of Research and Innovation of the European Union.

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