What is Screen4Care?

Screen4Care offers an innovative research approach to accelerate rare disease diagnosis, which is based on two central pillars: genetic newborn screening and digital technologies. People living with rare diseases often find themselves on a burdensome diagnosis journey, enduring on average eight years of inconclusive consultations and possible misdiagnoses, leading to ineffective treatments and inefficient healthcare resource utilisation.

Although rare diseases collectively impact over 30 million people in Europe, most of the individual conditions have a low prevalence. Rare diseases affect one, or less than one, person in 2,000. This has resulted in a lack of research and expertise in this field. Diagnosis odysseys and uncertainty around experienced symptoms continue to place a heavy burden on people living with rare diseases, their families, care-takers, doctors and society as a whole.

More than 7,000 rare diseases are known today. They are predominantly of genetic origin and are often severe or even life-threatening, especially if undiagnosed and untreated. Delivering effective treatments to people living with rare diseases has been described as one of the major global health challenges of our time.

The collaborative Innovative Medicines Initiative (IMI 2 JU) project Screen4Care aims to meet the pressing need for an accelerated rare diseases diagnosis framework. It offers a novel approach based on the following two central pillars: genetic newborn screening and digital technologies. Screen4Care will run for a period of five years with a total budget of 25 million euro, provided by the IMI 2 JU, a joint undertaking of the European Union and the European Federation of Pharmaceutical Industries and Associations.

The first central pillar in Screen4Care’s dual approach is genetic newborn screening, which is anticipated to be a very effective tool for the early diagnosis of rare diseases, since over 70% are of genetic origin of which almost 90% affect children. Typically, genetic newborn screening is a public health programme through which newborns are tested shortly after birth to identify those who are likely to develop a condition that may not be clinically evident in the newborn period yet.

The second central pillar includes innovative digital solutions, such as the Screen4Care Meta-Symptom Checker and the Screen4Care Virtual Clinic. Screen4Care aims to use the power of these innovative digital technologies to improve the accuracy and speed of patient diagnosis via two routes: Predictive algorithms, leveraging the Screen4Care data (federated) machine learning environment and embedded Electronic Health Record (EHR) systems, which will flag patients at risk for a rare disease based on the data in their EHR.

The Screen4Care Meta-Symptom Checker will help people living with rare diseases who are “cycling” with their symptoms, moving from one doctor to another, often searching the internet for symptom checkers to understand the cause of their symptoms.

The Screen4Care Virtual Clinic will complement these approaches. It will provide support along the path from rare disease symptoms and suspicion to a proper diagnosis and will also offer ongoing support post-diagnosis, with specific spaces for patients and families to meet, share experiences, network and find human support. The platform aims to serve as the main place to connect and exchange information within the rare disease communities.

The tools developed by Screen4Care aim to stimulate digital transformation within the healthcare system and improve diagnostics for rare diseases. This IMI 2 JU research project strives to empower and inform patients and their families, connect the rare disease communities across Europe and involve all stakeholders in the decision-making processes towards an accelerated proper diagnosis.

Explore Screen4Care's dual approach in detail by clicking on the chart below