Rare diseases impact over 30 million people in Europe. Because rare conditions have a low prevalence individually, affecting up to one in 2,000 people, patients often find themselves on a burdensome diagnostic journey, enduring on average eight years of consultations, misdiagnoses, and ineffective treatment. The ‘diagnostic odyssey’ places a heavy burden on rare patients, their families, caregivers, health systems, and society as a whole. The aim of Screen4Care is to accelerate the diagnosis of rare diseases based on two central pillars: genetic newborn screening and digital technologies.
The first pillar of the project is genetic newborn screening for the diagnosis of rare diseases at birth. Typically, newborn screening is a public health programme comprising the nation-wide testing of newborns to identify those with a rare disease. The introduction of genetic screening is anticipated to be highly effective, as over 70% of rare diseases are of genetic origin, of which almost 90% affect children. Within the second pillar, Screen4Care aims to use digital tools to improve the accuracy and speed of patient diagnosis. For example, diagnostic algorithms will identify patients with early onset of a rare disease by screening Electronic Health Records. The team of the Professorship of Regulatory Affairs will examine how genetic newborn screening and digital solutions are currently reimbursed in Europe and produce policy recommendations how these technologies should be best reimbursed in the future, so they can reach the patients in an efficient and timely manner. The team will also conduct an economic evaluation of genetic newborn screening programmes for rare disease, nested in the Screen4Care pilot screening programme.
Prof. Dr. Rudolf Blankart: Management Work Package 1, Member of the Executive Project Management Team and the Ethical, Legal and Safety Team
Sandra Gillner: Management Task 1.7: Reimbursement pathways of novel screening and diagnostic technologies for rare diseases
Rachel Cassidy: Management Task 3.5: Generating evidence on the cost-effectiveness of newborn screening for rare diseases
