An international public-private consortium of 35 partners, including sitem-insel and the University of Bern, announced the launch of Screen4Care – a research project that aims to significantly shorten the time required for rare disease diagnosis and efficient intervention by utilising genetic newborn screening and advanced analysis methods such as machine learning. The project will run for a period of five years with a total budget of EUR 25 million provided by the Innovative Medicines Initiative (IMI 2 JU), a joint undertaking of the European Union and the European Federation of Pharmaceutical Industries and Associations (EFPIA).
Of the more than 7000 rare diseases, often less than one person in 2000 is affected. These conditions, which collectively affect an estimated 27-36 million people across the Europe are often severe, multisystemic chronic diseases that put patients at risk of permanent organ damage and degeneration. Patients typically face an arduous journey to proper diagnosis, enduring on average eight years of countless doctor’s consultations, misdiagnoses and ineffective treatments.
Screen4Care will use a multi-pronged strategy to shorten the time to diagnosis and treatment for patients with rare diseases: Firstly, genetic newborn screening promises to be an effective tool for early diagnosis from which children in particular will benefit: 72% of rare diseases have a genetic cause and 70% of rare disease patients are children. With AI-based tools and algorithms, Screen4Care will help to identify patients at early disease onset and support symptom-based diagnosis later in life.
The University of Bern and sitem-insel contribute to the project in three areas.
Rudolf Blankart, Professor of Regulatory Affairs at the KPM Center for Public Management and Director Promoting Services at sitem-insel, will analyze the regulatory and business framework for AI-based newborn screening in Europe: He elaborates: “In the first phase of the project, we need to understand the great heterogeneity in the handling of such sensitive data, the uncertainty in licensing due to the new EU regulations and the differences in remuneration. Building on this foundational work, we can then develop compliant technologies and sustainable business models.”
Rowan Iskandar, Head of the Center of Excellence in Decision Analytic Modelling and Health Economic Research at sitem-insel will lead all activities related to health economic evidence generation. Particularly, Dr. Iskandar will assess the cost-effectiveness of newly developed screening modalities and algorithms: “In an increasingly budget-constrained environment, we need to understand the costs and health benefits of new health technologies. The small patient numbers due to the rarity of the disease and the severe uncertainty due to the very early phase in the development process make research on rare disease very challenging and exciting. We have the expertise and tools to meet these challenges.”
Nadine C. Martin, Head of Innovation at sitem-insel, is contributing her Open Innovation expertise to bring the 35 partners together. She pronounces that “we will run Open Innovation campaigns to ensure broad adoptability of proposed solutions by all the partners, their stakeholders, the patients and the public. By working together openly and thus validating the partners’ work, we can achieve so much more than we can alone”.