Screen4Care's Areas of Focus

Work Package 1: Understanding the business, ethical and regulatory environment for rare disease screening in Europe

Work Package 1 (WP1) lays the foundations for understanding the business, legal, ethical and regulatory environment for rare disease screening in Europe. In addition, WP1 accompanies the project with stakeholder engagement activities.

WP1 therefore focuses on three landscape analyses. First, identification of ongoing and planned rare disease screening activities in Europe in order to be able to liaise with such initiatives and explore collaborations. Second, WP1 focuses on a landscape analysis of available data sources to serve as a starting point for Work Package 2 and Work Package 4 that develop machine-learning algorithms to identify rare conditions in electronic health records. Third, WP1 focuses on a horizon scan on available symptom checker initiatives that can help clinicians, patients, and families to make a possible diagnosis of a rare disease, which will be relevant to WP5.

To comply with ethics and legal requirements, WP1 is developing a Data Protection Impact Assessment Framework, whereby people can feel assured that their data is protected from a legal and technical point of view when using the systems. In addition, WP1 is developing a Code of Ethical Practice to serve as guiding document for ethically sharing and accessing personal data for screening. The legal and ethical activities of WP1 is aligned with the Ethics, Legal, and Safety Team (ELST) and the activities are monitored by the Independent Ethics Advisor.

In order to efficiently bring new ML-based technologies to healthcare providers and patients in Europe, WP1 is conducting thorough analyses and is developing a guideline for regulatory approval and compliance requirements that need to be addressed. In addition, WP1 is analysing questions related to funding, reimbursement, and adoption of medical technologies based on genetic screening or machine-learning that companies and healthcare decision makers will need to consider in order to integrate those technologies into broad healthcare systems after the end of the project. WP1 engages with stakeholders to share the project’s results and disseminate key information to patients, international screening societies, and other relevant groups.

Work Package 2: Creation of a federated metadata repository amenable for machine learning.

Medical data is scattered around the globe in different hospitals, specialized public or private databases and research institutes. Moreover, the data is stored in incompatible formats, meaning that the information of one dataset cannot easily be combined with the information of another dataset. Work package 2 (WP2) is developing a so-called metadata repository, which does not store the actual data, but only the information about the data, which are stored in the different databases. Through this metadata repository, we can identify where data is located, for example which databases contain data of people affected with a rare disease of interest to Screen4Care, and identify compatible datasets. Once interesting and compatible datasets are identified, we are able to perform the training of artificial intelligence algorithms in a federated fashion: with that in place, the data never leaves the safe harbour of storage, but the algorithm “comes” to the data. The result is that the machine models are improving, helping to identify undiagnosed rare disease patients in the datasets, but without ever transferring sensitive data outside of their safe site of storage.

Work Package 3: Creating and piloting a sustainable genetic newborn screening strategy for TREATable and ACTionable Rare Disease

Work Package 3 (WP3) is focused on the first central pillar of Screen4Care’s dual approach: genetic newborn screening. Typically, genetic newborn screening is a public health program through which newborns are tested to identify those who are likely to develop a specific rare disease that may not be clinically evident in the newborn period yet. Current epidemiological data shows 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 a high speed. WP3 is exploring the use of Next-Generation Sequencing (NGS) in genetic newborn screening, because it presents an opportunity to significantly shorten the path to a 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 genetic newborn screening 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 newborn screening ecosystem in Europe.

Work Package 4: Accelerating Time to Diagnosis by Using Digital Technologies to Screen Patients at Risk of Having a Rare Disease in Electronic Health Records.

Work Package 4 (WP4) is focused on the utilization of Electronic Patient (Health) Records (EHR). Patients in the early stages of a rare disease should be identified more quickly via EHR to prevent a long diagnosis journey and possible misdiagnoses. WP4’s approach supports a symptom-based diagnosis beyond the neonatal period and is focused on the use of algorithms that are based on machine learning. 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 EHRs. The patients will then be invited for further diagnostic check-up. WP4 is also exploring ethical, legal, socio-economic and safety aspects that will be relevant to users, such as people living with rare diseases or healthcare providers. The development of innovative digital and imaging technologies in combination with artificial intelligence methods is anticipated to lead to improved shortened path to diagnosis and treatment of people with rare diseases in the long term.

Work Package 5: The Screen4Care Platform: Meta-Symptom Checker and Virtual Clinic

Work Package 5 (WP5) is focused on the creation of the Screen4Care Meta-Symptom Checker, which aims to connect to existing symptom checkers, to curate the recommendations, and to present them in a user-friendly way, so that people living with rare diseases, who are still looking for 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 misdiagnosis and reduce lead times to diagnosis and medical support. Symptom checkers can only raise suspicions which need to be confirmed by qualified healthcare professionals.

The Screen4Care Virtual Clinic is an app that offers a supporting platform and a collaborative space for patients, families and healthcare professionals; a one-stop-shop where patients and doctors can find everything they need to move from suspicion to diagnosis as well as ongoing support post-diagnosis, with specific spaces for patients and families to meet, share experiences, network and find human supports as well.

Work Package 6: Project Management, Communication and Dissemination of Screen4Care and its results

Work Package (WP6) provides project management and all support needed to ensure the project's workflows run smoothly. It facilitates and supports effective decision-making structures among the partners. WP6 also ensures proper scientific coordination, quality assurance, risk management as well as financial management, controlling, data and ethic management. Moreover, WP6 promotes the project’s external communication and ensures the transfer of knowledge and results with the aim to enable others to use the data and information generated by Screen4Care, thus maximising the impact of Screen4Care and accelerating the diagnosis of rare diseases. It uses innovative communication and dissemination strategies to inform people living with rare diseases, their families, care-takers, healthcare professionals and other stakeholders about the research conducted in Screen4Care.