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Table 1 Effectiveness and cost input variables used in the analysis

From: Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis

  Distribution Distribution parameters Data source
Epidemiology, prevalence and effectiveness    Base case
Test Specificity (including confirmation by enzyme analysis) Point estimate 1 Assumption
Test Sensitivity Triangular Mode 0.945 (min-max 0.9-0.99) [1, 3]
Prevalence based on positive test result Triangular Mode: 1 in 112,700, (min-max 1 in 129,455 – 1 in 95,953) [1]
Probability of early diagnosis before the onset of sMD Triangular Mode 0.15 (min-max 0.12-0.18) [3]
Probability that severe movement disorder develops in previously diagnosed children Triangular Mode 0.115 (min-max 0.092-0.138) [1]
Probability that severe movement disorder occur following clinical manifestation Triangular Mode 0.74 (min-max 0.592-0.888) [28]
Life expectancy of healthy population Point estimate 79.45 years [29]
Life expectancy in asymptomatic persons with GA-I Equal to life expectancy of healthy population Assumption
Life expectancy in impaired health state Uniform Min-max 25–45 years [3]
Cost Assessment    
A) Direct screening cost, including genetic and enzymatic confirmation studies
Initial medical cost for children experiencing an acute encephalopathic crisis Triangular Mode 3000 (min-max 2000–8000) Assumption, based on year 2010 German DRG reimbursement
Cost for genetic and enzymatic confirmation studies Point estimate 865 Primary data
Direct screening cost per neonate Point estimate 0.031 Calculated, based on [30]
B) Cost for medical and dietary treatment in persons with GA-l
Cost per outpatient visit Triangular Mode 127 (min-max 88.9 -165.1) Primary data
Cost per inpatient treatment Triangular Mode 1335 (min-max 934.5 - 1735.5) Primary data
Number of outpatient treatments per year Point estimate Age-depending [10]
Number of inpatient treatments per year Point estimate Age-depending [10]
Cost for basic dietary treatment per year Point estimate Age-depending [10]
C) Cost associated with severe movement disorder
Annual cost for special schooling (included for age 6 to 16) Triangular Mode 5689 (min-max 0–11369) Assumption, based on [31]
Annual cost for special care, starting after age of 6 Triangular Mode 2700 (min-max 1890–3510) Assumption, based on [32]
Annual overhead cost in case of severe movement disorder Uniform Min-max 0-3000 Assumption
  1. All costs are expressed in Euro for the year 2010.