The NSO-AC review of existing targets of the NSO panel is a quality improvement initiative. It involves determining whether changes are needed to the current screening process, including potential removal of a disease from the panel.
The review process was trialed initially with phenylketonuria (PKU) and then cystic fibrosis (CF). Upon completion of the PKU review, no changes to the screening process were recommended however, the review highlighted the need for more precise disease definitions, quality indicator benchmarks, and long-term follow up data. The recommendation upon completion of the CF review was to evaluate the addition of a third tier test (sequencing of the CFTR gene) to the existing CF screening algorithm in an effort to improve the positive predictive value (PPV).
The review of C5OH-related targets was the latest group of disorders to be reviewed. The final recommendation was to remove C5OH-related targets from the Newborn Screening Ontario panel. For information regarding this decision, please click here.