Health and economic outcomes of newborn screening for infantile-onset Pompe disease

Details

• Alternative Title:
  Genet Med
• Personal Author:
  Richardson, John S. ; Kemper, Alex R. ; Grosse, Scott D. ; Lam, Wendy K. K. ; Rose, Angela M. ; Ahmad, Ayesha ; Gebremariam, Achamyeleh ; Prosser, Lisa A.
• Description:
  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.
  
  
• Subjects:
  Antigens, Viral Antiviral Agents Clinical Trials As Topic Humans Influenza, Human Influenza Vaccines Orthomyxoviridae Vaccination
• Source:
  Genet Med. 23(4):758-766
• Pubmed ID:
  33281187
• Pubmed Central ID:
  PMC8035228
• Document Type:
  Journal Article
• Funding:
  CC999999/ImCDC/Intramural CDC HHSUnited States/
• Volume:
  23
• Issue:
  4
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha-512:7cb8852250052490e3ed31dcb942acecb533c0cd0fa2ad86d27f6098650c7d3e40a5905b6926906e27fb80ece75f4cb923217ff3ce270c4058e37bbeebcb70a8
• Download URL:
  https://stacks.cdc.gov/view/cdc/105015/cdc_105015_DS1.pdf
• File Type:
  [PDF - 687.44 KB ]