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
Genetic Newborn Screening (NBS)
Genetic newborn screening (NBS) 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. It is also anticipated to be a very effective tool for early diagnosis of rare diseases, given that over 70% of rare diseases are of genetic origin, of which almost 90% affect children. Recent advances in sequencing technology and computer sciences enable large amounts of genetic information to be acquired and processed at high speed. Screen4Care is exploring the use of Next-Generation Sequencing (NGS) in NBS, because it presents an opportunity to significantly shorten the path to rare disease diagnosis for many genetic disorders. Two sets of Rare Diseases that, according to carefully chosen criteria, we consider either treatable (TREAT) or actionable (ACT) are the focus of the NBS pilot conducted by Screen4Care in hospitals in Germany, Czech Republic, and Italy. In addition, a Whole Genome Sequencing (WGS) might also be a complementary approach for newborns who are negative for both TREAT and ACT panels, but who manifest symptoms during the first months of their life. Finally, Screen4Care collects data on stakeholder preference and economic impact with the objective to help shape an ethical and sustainable genetic NBS ecosystem in Europe.
Digital Solutions
Screen4Care aims to use the power of digital solutions 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 systems that will flag patients at risk for rare diseases based on the data in their EHR. The Screen4Care Meta-Symptom Checker will help patients cycling with their symptoms 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 those approaches and will provide support along the path from rare disease symptoms and suspicion to a proper diagnosis.
EHR Algorithms
Patients in the early stages of their disease should be identified more quickly via Electronic Patient (health) Records (EHR), so they can receive help on their diagnosis journey promptly. By leveraging the Screen4Care environment with standardized data and federated machine learning technology, predictive algorithms will be developed, tested and piloted in real life. These algorithms will flag patients at risk for selected rare diseases based on the data of their Electronic Health Records. The patients will then be invited for further diagnostic check-up. The performance of these algorithms, their effect on patients and other relevant stakeholders in the process as well as on health systems will be assessed thoroughly throughout the project.
Meta-Symptom Checker
The Screen4Care Meta-Symptom Checker aims to help people living with rare diseases who are “cycling” with their symptoms, moving from one doctor to another. There are many different symptom checkers available, of varying quality and expertise in rare diseases. Most symptom checkers operate on the web, with inherent problems of patient data security and unverified data sources creating uneven and inaccurate results. By contrast, the S4C solution takes a higher level (meta) look at the needs of patients, and provides 4 linked bespoke apps co-designed with RD patients, for RD patients.
In the RD field, families of patients, and clinicians, face similar problems from different perspectives. The S4C Meta-Symptom Checker (aka the S4C app) helps people living with rare diseases, in search of a diagnosis, to have better, private and easily accessible, validated tools to increase their chances of finding relevant information, which can later support them in receiving the appropriate diagnosis from medical professionals. The S4C Meta-Symptom Checker is not meant to replace an appropriate diagnosis by trained medical professionals, but rather to reduce the risk of misdiagnoses and accelerate the time to diagnosis and medical support. Symptom checkers can only raise suspicions, which always need to be confirmed by qualified healthcare professionals.
Screen4Care Virtual Clinic
The Screen4Care Virtual Clinic is a gamified virtual world providing rooms, linked to the S4C website. We call it TeachRD, as one of the 4 related apps created for this project. This is the space where we engage with general users visiting the S4C site: these may be patients and families or may be clinicians, or interested members of the public. It has been designed for total data privacy. No personal data is gathered or stored on a cloud, and users do not interact with one another- only with validated medical information about rare disease. The aim of the Virtual Clinic is to a user-friendly app that actively engages and connects patients and their families with information provided by qualified doctors and caregivers. It is a supporting and collaborative space for patients, families and healthcare professionals where the aim is 'inoculation against medical misinformation': a trustworthy space where all users can engage in simple games to test their knowledge, always leading to the best available information to teach us all about RD, thus providing a one-stop-shop, where patients and doctors can find a diverse set of useful content and information they need to move from suspicion to diagnosis. It links to the S4C app, of which it is part. It aims to serve as the main place to connect and exchange information within the rare disease community in Europe.