Clinical sensitivity of common Varied in the range $1,898 $1,215 High; higher clinical mutation test 80%–98% sensitivity favours intervention Cost of whole gene Varied in the range Moderate; lowering the cost $1,477 $1,898 sequencing $500–$1,000 favours intervention Model 2 – Fetus has FEB (Base-case ICER $23,254/CF birth averted) Incidence of CF in FEB Varied in the range $53,565 $7,398 High; higher incidence of CF population 2%–13% in FEB population favours intervention Uptake of termination of Varied in the range $52,077 $14,607 High; lower termination affected pregnancy 30%–100% uptake rates favour comparator Clinical sensitivity of common Varied in the range $23,254 $18,800 Low; higher clinical mutation test 80%–92% sensitivity favours intervention Uptake of invasive testing Varied in the range Low; higher values favour $23,254 $20,993 when one parent is identified 50%–90% intervention as a carrier CF = cystic fibrosis; CFTR = cystic fibrosis transmembrane conductance regulator; FEB = fetal echogenic bowel; ICER = incremental ratio; NBS = newborn screening
Clinical sensitivity of common mutation test Varied in the range 80%–98% $1,898 $1,215 High; higher clinical sensitivity favours intervention Cost of whole gene sequencing Varied in the range $500–$1,000 $1,477 $1,898 Moderate; lowering the cost favours intervention Model 2 – Fetus has FEB (Base-case ICER $23,254/CF birth averted) Incidence of CF in FEB population Varied in the range 2%–13% $53,565 $7,398 High; higher incidence of CF in FEB population favours intervention Uptake of termination of affected pregnancy Varied in the range 30%–100% $52,077 $14,607 High; lower termination uptake rates favour comparator Clinical sensitivity of common mutation test Varied in the range 80%–92% $23,254 $18,800 Low; higher clinical sensitivity favours intervention Uptake of invasive testing when one parent is identified as a carrier Varied in the range 50%–90% $23,254 $20,993 Low; higher values favour intervention CF = cystic fibrosis; CFTR = cystic fibrosis transmembrane conductance regulator; FEB = fetal echogenic bowel; ICER = incremental ratio; NBS = newborn screening
1216-MSAC-CA-CFTR.docx