Siège social de Twist
681 Gateway Blvd
South San Francisco, CA 94080, États-Unis
Le développement rapide des thérapies pour les maladies génétiques rares et graves souligne la nécessité d’intégrer les tests génétiques de première intention dans les programmes de dépistage néonatal (newborn screening, NBS). To address this, a workflow was created to screen newborns for 165 treatable pediatric disorders by deep sequencing regions of interest across 405 genes. Launched in September 2022, the BabyDetect pilot project took place in the Liège area, Belgium. More than 6,000 families were informed about the study, and over 90% consented to participate.
