Clinical practice guidelines

Clinical practice guidelines

ERN GENTURIS developed a policy regarding guideline development which is based on the principles of Grading of Recommendations Assessment, Development and Evaluation (GRADE) to ensure the quality of the guidelines, but is tailored for rare disease guidelines, using an “enhanced GRADE’ approach to mitigate the challenges associated with rare disease research (please see "Evidence evaluation in rare disease guidelines: a methodological perspective"). This approach includes a comprehensive literature search with expert opinion (from clinicians with expertise in the disease as well as patients), to ensure that guidelines are both evidence-based and clinically relevant to the complex needs of rare disease populations. More details can be found in our guideline development policy and terms of reference.

 

Clinical practice guidelines written by ERN GENTURIS

• Counselling on reproductive options for individuals with a cancer predisposition syndrome (including genturis)
• Constitutional Mismatch Repair Deficiency (CMMRD)
• Birt-Hogg-Dubé syndrome (BHD syndrome)
• Neurofibromatosis type 1 (NF1)
• Schwannomatosis
• PTEN Hamartoma Tumour Syndrome (PHTS)
• Heritable TP53-related cancer syndrome (hTP53rc syndrome)/Li-Fraumeni syndrome (LFS)

Clinical practice guidelines co-authored by ERN GENTURIS

• Gastrointestinal stromal tumours (GIST)
• Bone sarcomas
• Soft tissue and visceral sarcomas

Clinical practice guidelines endorsed by ERN GENTURIS

• Thematic Group 1: Schwannomatosis and neurofibromatosis

• Thematic Group 2: Lynch syndrome and polyposis

• Thematic Group 3: Hereditary breast and ovarian cancer syndrome

• Thematic Group 4: Other rare - predominantly malignant - genturis