Economic evaluation of neonatal screening for phenylketonuria and congenital hypothyroidism

E A Geelhoed1, B Lewis, D Hounsome

  • 1Population Health Division, Department of Health, Genomics Directorate, Princess Margaret Hospital, Perth, Western Australia. elizabeth.geelhoed@uwa.edu.au

Insights

Neonatal screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) saves A$2.9 million annually. This cost-saving preventive care strategy remains effective despite changes like maternal PKU.

Area of Science:

  • Public Health
  • Preventive Medicine
  • Health Economics

Background:

  • Neonatal screening for phenylketonuria (PKU) and congenital hypothyroidism (CH) is a widespread preventive health measure.
  • Early detection is crucial as intellectual disability from these conditions is otherwise irreversible.
  • Evolving treatment landscapes, including maternal PKU, necessitate ongoing program evaluation.

Purpose of the Study:

  • To conduct a cost-benefit analysis of neonatal screening programs for PKU and CH.
  • To assess the economic impact of these screening programs in Western Australia.
  • To evaluate the influence of maternal PKU on the overall economic outcomes of neonatal screening.

Main Methods:

  • Cost analysis based on the existing Western Australian screening program.
  • Calculation of averted costs using current and historical patterns of care and intellectual disability.
  • Sensitivity analysis to assess the robustness of cost savings under varying assumptions.

Main Results:

  • The neonatal screening program yields an annual net saving of A$2.9 million.
  • Economic benefits primarily stem from preventing lifelong costs associated with intellectual disability.
  • Maternal PKU contributed a minor proportion to the overall program costs.

Conclusions:

  • Neonatal screening for PKU and CH represents a cost-effective allocation of healthcare resources.
  • The program demonstrates robust economic benefits, remaining cost-saving across various assumptions.
  • The emergence of maternal PKU has not significantly altered the positive economic outcomes of neonatal screening.
Abstract

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