A new Euro-NMD publication is now available preprint on The Orphanet Journal of Rare Diseases about European patients organisations‘ knowledge and position paper on screening for inherited neuromuscular diseases. The need for this paper arises from the recognition that screening directives and access to the different techniques is not uniform across Europe. However, the development of new genetic testing methods and the approval of the first treatments raises questions regarding when and how to perform screening for inherited neuromuscular conditions.
The survey involved 30 patient organisations (POs) from 18 European countries, of which fifteen acknowledge the existence of pre-implantation genetic diagnosis in their country. Regarding prenatal screening, we had 25 positive answers and 5 negative ones. Twenty-four POs mentioned that newborn screening was available in their country.
The paper draws the conclusion that the unmet need for screening inherited NMDs should follow an adaptive pathway related to the fast moving medical landscape of NMDs and that international coordination leading to a common policy would certainly be a precious asset tending to harmonise the situation amongst European countries.