Patient Journeys

ERN GENTURIS patient journeys

ERN GENTURIS develops patient journeys for patients in addition to the ERN GENTURIS guidelines and care pathways developed for clinicians. These patient journeys provide the patient with a first impression of what to expect. The clinical expert can use the patient journey to explain the route/journey a genturis patient will take. The details of the patient’s personal journey will be filled in by the clinician (personalised care).

ERN GENTURIS patient journeys are infographics that consist of an accessible visual overview, supported by a detailed information matrix. All ERN GENTURIS patient journeys include information regarding germline genetic testing, genetic counselling, diagnosis, surveillance and follow-up, (peer) support and, where applicable, transition of care.

ERN GENTURIS has developed 7 patient journeys so far. The Lynch syndrome patient journey was recently revised. All other patient journeys will be revised in the near future.

The currently available patient journeys are:

• Neurofibromatosis type 1
• NF2-related schwannomatosis
• Non-NF2-related schwannomatosis
• Lynch syndrome (2024)
• Hereditary breast and ovarian cancer syndrome
• PTEN hamartoma tumour syndrome
• Heritable TP53-related cancer syndrome/Li-Fraumeni syndrome

Disclaimer: The ERN GENTURIS patient journey is intended as a general overview of the clinical and diagnostic pathway for the specific genturis or its suspicion. It should not replace an individual clinical and genetic counselling at an expertise centre. It also does not intend to address all specific challenges of the complex genturis syndromes covered by the patient journeys. Specific clinical guidelines, diagnostic criteria and nomenclature may change at short notice and therefore are only referred to in this patient journey.

History of the ERN GENTURIS patient journeys:

In 2019, ERN GENTURIS Members and patient representatives developed an innovative visual approach to explain the route / journey a patient with a rare disease will take: “patient journeys”. This is described in our open access paper “Patient Journeys: improving care by patient involvement" in the European Journal of Human Genetics (doi.org/10.1038/s41431-019-0555-6)

All ERNs have now started to make patient journeys, indicating the utility of patient journeys across a broad range of clinical contexts.

During the 2023 annual ERN GENTURIS meeting, the patient journeys and their use were evaluated. To improve adoption of the ERN GENTURIS patient journeys, it was agreed to simplify the patient journeys according to a fixed ERN GENTURIS format including information regarding the (eligibility of) germline genetic testing, genetic counselling, diagnosis, surveillance and follow-up, (peer) support and where applicable transition of care.