European Reference Network for Rare Neurological Diseases(739510)
Abstract Background and purpose Seven thousand rare diseases have been identified;
most of them are of genetic origin. The diagnosis of a neurogenetic disease is difficult,
and management and training programs are not well defined through Europe. To capture
and assess care needs, the Neurogenetics Panel of the European Academy of Neurology
(EAN) has performed an explorative survey. Methods The survey covering multiple topics
of neurogenetics was sent to all neurologists and neuropediatricians affiliated with
the EAN practicing in Europe. Results We collected answers from 239 members based
in 40 European member states. Even though most of the responders were aware of neurogenetic
diseases, when we came to amenability of carrying out a complete genetic diagnosis,
almost one-third of the responders declared they were not happy with the current way
of ordering genetic analyses in their countries. Furthermore, although single-gene
analysis is diffusely present in Europe, whole exome and genome sequencing are not
easily accessible, with considerable variabilities among countries. Almost 10% of
the responders did not know if presymptomatic and prenatal diagnosis was available
in their countries, and 47.3% were not aware of which newborn screening programs were
available. Finally, 96.3% of responders declared that there is a need for education
and training in neurogenetics. Conclusions We believe that this survey may be of importance
for all European stakeholders in neurogenetics in identifying key priorities, targeting
areas to encourage education/travel fellowships, and educational seminars in the future,
because this area will only accelerate, and diagnostic requirements will expand.
