Screening for rare diseases at birth using molecular biology is becoming a reality in several countries. The Screen4Care project brought together a group of experts including clinicians, biologists and representatives of both patients and industry:
- from an initial list of 484 actionable genes, the experts defined six selection criteria largely inspired by the Wilson and Jungner criteria,
- this enabled the list to be reduced to 245 genes, including 25 genes for neuromuscular diseases,
- the TREAT panel thus constituted could serve as a basis for several genomic screening projects in Europe, including one, due to start soon, involving 20,000 newborn babies.
