Patient Journeys

Patient Journeys

ERN GENTURIS Members and patient representatives have developed an innovative visual approach for the clinical pathway of patients with rare diseases: “Patient Journeys”.  

Each “Patient Journey” is divided in several stations that are considered inherent to the specific disease. Each station in the journey is referenced under three levels: clinical presentation, challenges and needs identified by patients, and their goal to improve care. 

The journey can be used by both patients and clinical experts to explain the clinical pathway: professional experts can explain to newly identified patients what the clinical pathway generally looks like, whereas their patients can identify their specific needs within these pathways. 

Patient Journeys for the following genturis are already available:

• Neurofibromatosis Type 1
• NF2-related schwannomatosis (previously Neurofibromatosis Type 2)
• non-NF2-related schwannomatosis (previously Schwannomatosis)
• Lynch syndrome
• Hereditary breast and ovarian cancer (HBOC)
• PTEN hamartoma tumour syndrome (PHTS)
• Heritable TP53-related cancer syndrome/Li Fraumeni syndrome

Our open acces paper “Patient Journeys: improving care by patient involvement" in the European Journal of Human Genetics can be downloaded from doi.org/10.1038/s41431-019-0555-6