Rare disease community can now access an app to accelerate diagnosis

Professor Lizbeth Goodman

SMARTlab Director and Chair, UCD

Cassandra J Collins

Principal UX Design Director, Microsoft and PhD Candidate, UCD

Patients can speed up rare disease diagnosis using a secure digital app that stores their data privately. They can share it with their GP or consultant only if they choose.

When a diagnostic journey begins, most patients have no clear idea of what they might be facing. They may be searching for answers about a rare disease, a more common condition or even questioning whether there’s a medical concern at all. They are simply trying to understand their symptoms and what steps to take next.

Privacy-focused AI health app

A digital app using a ‘Privacy by Design’ method of safe, personalised AI can help patients and families understand whether their symptoms may be unusual, suggestive of a medical condition or even a rare disease. Privacy by Design requires patient data to be input by the patient on their own mobile device, without being hosted or sent over any cloud.

Multimodal interfaces, such as touchscreens,
provide an accessible and inclusive
way for patients to communicate.

Meeting needs of the rare disease community

The Screen4Care app has been co-designed with the rare disease community of Europe and addresses the needs of patients first and foremost. It also enables GPs and medical professionals to get faster and more accurate, nuanced insights into the history and pattern of symptoms that patients report. It can lead to better diagnosis in a shorter time.

Inclusive multimodal communication

Multimodal interfaces, such as touchscreens, provide an accessible and inclusive way for patients to communicate, regardless of physical or cognitive differences, sensory challenges, language barriers or other communication issues.

In the S4C system, touchscreen inputs are converted into structured ‘scripts’ that translate patient-friendly language into precise clinical terminology, ensuring that medical professionals can understand and respond effectively. This bidirectional communication functions as a virtual clinic, bridging the gap between patients and healthcare providers for more efficient and accurate interactions.