Clinical practice guidelines

Clinical practice guidelines

Clinical practice guidelines are recommendations for clinicians about how to diagnose, treat, or perform surveillance of patients with specific conditions. These guidelines are based on the best available research evidence and/or expert opinion.


Clinical practice guidelines written by ERN GENTURIS

ERN GENTURIS Task Force 3 together with Matt Bolz-Johnson and Tom Kenny developed a Network Policy for New Guideline Development based on internationally recognised methodology for guideline development, although adapted to be applicable to rare diseases as well.

To help disseminating the guideline, ERN GENTURIS will prepare the following documents for each guideline:

  • The full guideline document.
  • The journal publication: this is a concise version of the full guideline document, published in a peer-reviewed journal.
  • A pocket guide: this is the guideline summary presented on a pocket card. The pocket guide will be translated in all European languages and made available on our website.
  • A plain language summary: this provides a clear summary of the guideline using non-technical language, making it accessible to a wider network of readers including patients. The plain language summary will be translated in all European languages and made available on our website.

Up to now, the following guidelines have been written by ERN GENTURIS:

Publication date
Main authors
Link to guideline page
16 January 2023 Charlotte Carton, D. Gareth Evans, Ignacio Blanco, Reinhard E. Friedrich, Rosalie E. Ferner, Said Farschtschi, Hector Salvador, Neurofibromatosis Type 1 Guideline Group, Amedeo A. Azizi, Victor Mautner, Claas Röhl, Sirkku Peltonen, Stavros Stivaros, Eric Legius, and Rianne Oostenbrink. ERN GENTURIS tumour surveillance guidelines for individuals with neurofibromatosis type 1 LINK
1 April 2022 D. Gareth Evans, Stefania Mostaccioli, Ignacio Blanco, schwannomatosis Guideline Group ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis LINK
12 June 2020 Marc Tischkowitz, Chrystelle Colas, Sjaak Pouwels, Nicoline Hoogerbrugge, PHTS Guideline Development Group. Cancer surveillance guideline for individuals with PTEN Hamartoma Tumour Syndrome (PHTS) LINK
26 May 2020 Thierry Frebourg, Svetlana Bajalica Lagercrantz, Carla Oliveira, Rita Magenheim, D. Gareth Evans, hTP53rc Guideline Development Group. Guidelines for the Li-Fraumeni and Heritable TP53-related cancer syndromes - Guidelines for the identification of individuals who should be tested for germline disease-causing TP53 variants and for their subsequent clinical management LINK


Clinical practice guidelines co-authored by ERN GENTURIS

The following guidelines were developed together with the European Society for Medical Oncology (ESMO). ESMO was the leading organisation and guidelines were developed in accordance with the ESMO standard operating procedures for clinical practice guidelines development: The following guidelines were developed:


Clinical practice guidelines endorsed by ERN GENTURIS

ERN GENTURIS uses AGREE II as a tool for the endorsement of guidelines. The quality of the guideline is evaluated by at least two independent assessors through assessing the rigor and transparency of the guideline development process. The content of the guideline is not evaluated, although selection of the guideline for endorsement includes expert opinion on the usefulness of the content of the guideline.