IMI project Screen4Care to speed up diagnosis and enhance healthcare for rare disease patients

 

Monday, 28 March, 2022


A new international Innovative Medicines Initiative (IMI) project, Screen4Care, has formally launched. The five year project has a budget of €25 million, led by Pfizer, and 35 consortium partners from 14 European countries including Switzerland and UK.

There are over 7,000 known rare diseases, affecting up to 36 million people in the EU, and one in 17 people during their lifetime. 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.

EFPIA Project Lead Nicolas Garnier of Pfizer said: “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. We therefore challenged ourselves to address this most pressing issue: accelerating patients’ path to diagnosis.”

Professor Lizbeth Goodman, Director of SMARTlab, the Inclusive Design Research Centre of Ireland based at UCD College of Engineering and Architecture, is leading the project in Ireland.

SMARTlab is responsible for co-designing a Meta Symptom Checker for Rare Diseases using open source tools and supporting patient-facing engagement, including virtual health clinics and educational games for specific demographics. Co-design processes involve communities, patients and families, clinicians and other stakeholders.

Professor Goodman said: “Screen4Care is aimed at helping real people in a real way – real people including rare disease patients who may have been in search for a way to understand symptoms for years, but also parents and families and carers of rare disease patients.

“The focus on early screening is key to success. The S4C Platform will be designed by our team at UCD with input from the full consortium, with the sole aim of helping people to thrive and to share their rare disease journey with trusted people and trustworthy data supporting the pathway to wellbeing. It is an honour to lead this incredible team for UCD – using Creative Technology Innovation tools and Inclusive Design methods for best in breed care!"

SMARTlab and its collaborators will deliver the open source platform through research in three key areas:

Digital therapeutic pathways, including: Virtual reality and avatar creation (using virtual worlds to guide real world healthcare); Big and small data driven approaches to personalised precision healthcare; Social behavioural change supported by 3-D immersive storytelling and; Creating future scenarios in virtual reality to predict trends and help inform clinicians.

Inclusive design approaches, including: Virtual medical clinics (3-D virtual world supports for vulnerable people in need of life improving interventions) and; Social prescribing and alternative community supports for well-being.

Diversity, unconscious bias and tools, including: Identifying and removing obstacles to healthcare for people of colour and other marginalised groups, and; Serious Games and the design of sticky systems that keep generating new information over time and help counter unconscious bias in healthcare platforms.

One of Screen4Care’s primary aims is to 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.

The meta-platform co-designed by SMARTlab will connect to symptom checkers and tools developed by Screen4Care partners.

The first goal of the project is to 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.

Screen4Care will 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.

Professor Goodman said: “Codesigning a platform for patients with communities, patients and families, clinicians and other stakeholders is the best way of providing a platform that delivers the best information to genuinely improve care for patients.”

Learn more about Screen4Care at https://screen4care.eu/