Update to the national strategy for the genetic diagnosis of myopathies by Filnemus

The French Rare Health Care for Neuromuscular Diseases Network (Filnemus) has published an update to its strategy for the genetic diagnosis of neuromuscular diseases, including in particular:

• the inclusion of 57 recently described genes associated with neuromuscular diseases;
• the creation of a ‘major muscle genes’ panel comprising the genes responsible for the 31 most common myopathies, which enables rapid screening in cases where an uncertain phenotype makes it difficult to select a specific panel;
• the option to include a panel of 40 ‘actionable’ genes to rapidly identify patients likely to benefit from treatments or requiring specific management;
• the use of an expanded panel of 257 additional genes or whole-genome sequencing in the event of negative results from the targeted or ‘major muscle genes’ panels.

This sequential and harmonised strategy aims to reduce the time taken to obtain results, whilst avoiding unnecessary tests.