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Following our ERN-EYE meeting organised in Florence and its particular focus on the availability of genetic testing in different member states, ERN-EYE just published a position statement in Orphanet Journal of Rare Diseases (Open Access). ERN‑EYE promotes access to genetic testing in Rare Eye Diseases (RED) and emphasizes the clinical need and relevance of genetic testing in RED. Despite technological advances, critical gaps in genomic testing remain in Europe, especially in smaller countries where no formal genomic testing pathways exist. Even within larger countries, the existing arrangements are insufficient to meet the demand and to ensure access.
Read the ERN-EYE position statement and do not hesitate to share it!
Many thanks to all co-authors!