Health and economic outcomes of newborn screening for infantile-onset Pompe disease.
Genet Med
; 23(4): 758-766, 2021 04.
Article
em En
| MEDLINE
| ID: mdl-33281187
ABSTRACT
PURPOSE:
To estimate health and economic outcomes associated with newborn screening (NBS) for infantile-onset Pompe disease in the United States.METHODS:
A decision analytic microsimulation model simulated health and economic outcomes of a birth cohort of 4 million children in the United States. Universal NBS and treatment was compared with clinical identification and treatment of infantile-onset Pompe disease. Main outcomes were projected cases identified, costs, quality-adjusted life-years (QALYs), and incremental cost-effectiveness ratios (ICERs) over the life course.RESULTS:
Universal NBS for Pompe disease and confirmatory testing was estimated to cost an additional $26 million annually. Additional medication costs associated with earlier treatment initiation were $181 million; however, $8 million in medical care costs for other services were averted due to delayed disease progression. Infants with screened and treated infantile-onset Pompe disease experienced an average lifetime increase of 11.66 QALYs compared with clinical detection. The ICER was $379,000/QALY from a societal perspective and $408,000/QALY from the health-care perspective. Results were sensitive to the cost of enzyme replacement therapy.CONCLUSION:
Newborn screening for Pompe disease results in substantial health gains for individuals with infantile-onset Pompe disease, but with additional costs.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Tipo de estudo:
Diagnostic_studies
/
Health_economic_evaluation
/
Prognostic_studies
/
Screening_studies
Limite:
Child
/
Humans
/
Infant
/
Newborn
País/Região como assunto:
America do norte
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article