Rare Diseases: Kick-off meeting

As part of PPP’s newly established Disease, Diagnosis and Treatment Commission, this program will examine the patient life cycle through the healthcare system, stemming from symptoms and diagnosis, and culminating with long-term care and condition management, as well as treatment.

Building upon the Rare Disease Framework, and in anticipation of the devolved nations releasing their Rare Disease Implementation Plans, this project will ensure to include the following questions:

• With the introduction of whole genome sequencing (WGS) into the NHS, how can healthcare professional be trained to best inform and help expecting parents regarding rare diseases?
• At which points in the patient life cycle do patients, and their families, fall through the system? How can this be addressed appropriately?
• How can the societal cost (time away from work, travel to appointments, etc.) be more greatly recognised and addressed?