SCREEN4CARE is striving to shorten the time to rare disease diagnosis by genetically screening babies in Europe as soon as they are born<\/p>\n
he EU-funded SCREEN4CARE project aspires to have every child born in Europe undergo genetic screening at birth for a wide variety of rare diseases. Genetic checks on newborns and AI-assisted data analysis could help speed up the diagnosis and treatment of rare diseases, which affect up to 36 million people in the EU.<\/p>\n
\u201cGenetic screening offers the significant benefit of providing more accurate data for more rare disease conditions,\u201d states Dr Alessandra Ferlini, an associate professor at SCREEN4CARE project coordinator University of Ferrara, Italy, in a \u2018Horizon Magazine\u2019 article. Of the 6 000\u20138 000 rare diseases believed to exist today, an estimated 80 % are of genetic origin, and 70 % begin in childhood.<\/p>\n
SCREEN4CARE is beginning its genetic newborn screening trials in Italy and then moving on to other EU countries. During these trials, an estimated 25 000 newborns will be genetically screened for 245 treatable rare diseases. This will involve taking five drops of blood two days after birth and performing next-generation sequencing.<\/p>\n
Newborn screening will not only make it possible to diagnose children earlier, it will also generate valuable research data on rare diseases and promote more effective treatments. \u201cIt would enable families to understand what is happening with their child, find the necessary support and care, and receive financial assistance,\u201d observes Gulcin Gumus, a senior manager of research and policy at SCREEN4CARE project partner EURORDIS \u2013 Rare Diseases Europe (France), a non-profit alliance of more than 1 000 rare disease patient organisations from 74 countries.<\/p>\n
According to a 2024 survey conducted by EURORDIS \u2013 Rare Diseases Europe, it currently takes about 4.7 years to diagnose a rare disease after symptoms first appear. Genetic newborn screening would not only significantly reduce the diagnostic time, thereby lessening patient suffering and uncertainty, it would also lead to more efficient use of healthcare resources.<\/p>\n
As reported in the same article, screening currently varies widely from country to country, ranging from testing for more than 40 conditions (Italy) to checking only for two (Romania). \u201cAdopting 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,\u201d states Aldona Zygmunt, director of policy and public affairs at SCREEN4CARE project partner Pfizer, United Kingdom.<\/p>\n
As part of its research work, SCREEN4CARE has conducted a study exploring the expectations and experiences of European Reference Network members regarding the use of machine learning technologies in the diagnosis of rare diseases. Another study conducted as part of the project looks into how AI providers perceive and navigate the spread of AI in complex healthcare systems.<\/p>\n
SCREEN4CARE (Shortening the path to rare disease diagnosis by using newborn genetic screening and digital technologies) is supported by the Innovative Medicines Initiative, a partnership between the European Union and the European pharmaceutical industry. The project ends in 2026.<\/p>\n","protected":false},"excerpt":{"rendered":"
SCREEN4CARE is striving to shorten the time to rare disease diagnosis by genetically screening babies in Europe as soon as they are born he EU-funded SCREEN4CARE project aspires to have every child born in Europe undergo genetic screening at birth for a wide variety of rare diseases. Genetic checks on newborns and AI-assisted data analysis\u2026<\/p>\n","protected":false},"author":2,"featured_media":18608,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_scj_primary_category_id":96,"_scj_featured":false,"_scj_featured_from":"","_scj_featured_until":"","_scj_featured_order":0,"_scj_visibility_class":"current","_scj_layout_family":"standard","_scj_article_style":"","_scj_display_overrides":[],"_scj_intro_image_id":18608,"_scj_intro_alt":"Waging war against rare diseases with genetic screening at birth","_scj_intro_caption":"","_scj_intro_class":"","_scj_intro_float":"","_scj_full_image_id":18608,"_scj_full_alt":"Waging war against rare diseases with genetic screening at birth","_scj_full_caption":"","_scj_full_class":"","_scj_full_float":"","_scj_media_type":"","_scj_media_provider":"","_scj_media_external_id":"","_scj_media_url":"","_scj_media_poster_id":0,"_scj_media_width":0,"_scj_media_height":0,"_scj_media_aspect_ratio":"","_scj_media_description":"","_scj_gallery_items":[],"_scj_related_post_ids":[],"_scj_additional_authors":[],"scj_layout_family":"standard","scj_media_provider":"","scj_media_url":"","scj_full_caption":"","footnotes":""},"categories":[96],"tags":[],"class_list":["post-18610","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-biotechnology"],"yoast_head":"\n