Screen4Care's Dual Approach to Accelerate Rare Disease Diagnosis
Screen4Care proposes an innovative dual approach to shorten time to proper diagnosis for people living with rare diseases.
The first central pillar of Screen4Care’s dual approach is genetic newborn screening, which is anticipated to be an 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 of Screen4Care includes innovative digital solutions, such as the Screen4Care Meta-Symptom Checker and the Screen4Care Virtual Clinic. Screen4Care aims to use the power of these digital tools 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 that will flag patients at risk for rare diseases 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, and often searching the internet for symptom checkers to understand the cause of their symptoms.
The Screen4Care Virtual Clinic will complement those approaches and provide support along the path from rare disease symptoms and suspicion to a proper diagnosis. It will also offer ongoing support post-diagnosis, with specific spaces for patients and families to meet, share experiences, network and find human support as well.
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 (which will be embedded in the Screen4Care Platform) aims to help people living with rare diseases who are “cycling” with their symptoms, moving from one doctor to another. Those affected often search the internet and use symptom checkers to understand the cause of their symptoms. However, there are many different symptom checkers available, with varying quality and expertise in rare diseases. Families of patients and clinicians face similar problems from different perspectives. The Screen4Care Meta-Symptom Checker will connect to existing symptom checkers, curate the recommendations, and present them in a user-friendly way. The goal is that people living with rare diseases, in search of a diagnosis, have better chances of finding relevant information, which can later support them in receiving the appropriate diagnosis from medical professionals in their area. The Screen4Care 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 user-friendly app that actively engages and connects patients and their families with doctors and caregivers. It involves them as critical decision-makers in the diagnosis process. It is a supporting and collaborative space for patients, families and healthcare professionals; 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. The app will also offer ongoing support post-diagnosis, with specific spaces for patients and families to meet, share experiences, network and find human support as well. It aims to serve as the main place to connect and exchange information within the rare disease community in Europe.