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New IMI project Screen4Care to speed up diagnosis for rare disease patients

Screen4Care will use the genetic screening of newborn babies and artificial intelligence tools to accelerate the diagnosis of rare diseases, a process that currently takes years.

Close-up of the feet of a newborn baby. Image by aviahuisman via Shutterstock.
Screen4Care will drive the genetic screening of newborn babies. Image by aviahuisman via Shutterstock.

There are over 7 000 known rare diseases. Between them they affect up to 36 million people in the EU alone, and they will affect 1 in 17 people during their life time. Many rare diseases are severe, long-lasting and affect multiple parts of the body. Yet getting a diagnosis takes an average of eight years, during which the patient will go through countless consultations, tests, misdiagnoses and ineffective treatments, even as their condition continues to worsen.

The aim of Screen4Care is to dramatically shorten the time it takes rare disease patients to get a diagnosis and treatment. The 5-year project has a total budget of EUR 25 million.

‘Because of the nature of their conditions, rare disease patients and their families commonly experience delays to diagnosis, which can lead to serious consequences for their health as well as their ability to plan for their future,’ said EFPIA Project Lead Nicolas Garnier of Pfizer. ‘We therefore challenged ourselves to address this most pressing issue: accelerating patients’ path to diagnosis.’

Firstly, the project will drive the genetic screening of newborn babies using genetic testing and advanced genomic technologies. The genetic testing of newborns makes sense because just over 70 % of rare diseases have a genetic cause, and a majority of rare diseases affect children.

Secondly, the project will design new artificial intelligence (AI) algorithms to identify rare disease patients early on in their disease via electronic health records. The project will also develop a repository of AI ‘symptom checkers’ to help patients who are already waiting for a diagnosis. Both AI tools will speed up the diagnosis of older rare disease patients.

In addition, Screen4Care aims to establish a digital infrastructure and ecosystem to engage patients, parents of newborns and caregivers as equal decision-makers in the diagnosis process. The ecosystem will provide an open innovation platform, which allows for continuous data collection and information exchange, aiding the development of next-generation diagnostics and enabling physicians, patients and relatives to make informed decisions at an earlier stage.

‘Screen4Care has the potential to help patients benefit from precision diagnostics that lead to better care, meaningful hospital visits and a better overall quality of life – and to help strengthen healthcare systems through novel diagnostic tools and a resource-efficient technological infrastructure,’ said Screen4Care Scientific Coordinator Alessandra Ferlini , of the University of Ferrara, Italy. ‘Of particular importance to the project is the active involvement of stakeholders to help shape the design and decisions for value-based healthcare.’

The ambitious project brings together experts with a wide range of expertise, including genetics, data management, ethics, and cybersecurity as well as the rare disease patient community. Ultimately, the project hopes to have a real impact on patients’ lives by shortening the time taken to diagnose rare diseases. For patients, this will result in a better quality of life thanks to faster access to not only effective treatments, but advice on things like lifestyle adjustments, family planning and genetic counselling – important elements given the genetic nature of many rare diseases.

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