Neonatal screening for metabolic disorder deemed cost-effective
| Radiology News - Radiology Articles |
Neonatal screening for medium chain acyl-CoA dehydrogenase (MCAD) deficiency appears to be cost-effective, according to the findings of studies conducted in the Netherlands and in Australia.
MCAD deficiency, an autosomal recessive disease, is the most common disorder involving mitochondrial fatty acid oxidation, Dr. Christian S. van der Hilst, from University Medical Center Groningen, the Netherlands, and colleagues note in their paper published in the Journal of Pediatrics for August.
If not detected early, the disorder is associated with mortality rates as high as 26 per cent. Still, the cost-effectiveness of neonatal screening for MCAD deficiency, which involves the use of tandem mass spectrometry, is unclear.
To investigate, Dr. van der Hilst's team analyzed data from 116 patients with clinically ascertained MCAD deficiency and from 66,216 newborns screened for the disorder, including 11 who were found to be affected. A Monte Carlo simulation was used to assess the incremental cost-effectiveness ratio (ICER) of screening vs. not screening.
Neonatal screening for MCAD deficiency cost $6.10 per newborn, compared with $4.22 for not screening.
Among patients diagnosed on clinical grounds, institutionalization accounted for 64 per cent of total costs. The next most costly expenditure was admissions, which accounted for 17 per cent of total costs.
Neonatal screening resulted in an ICER of $1653 per life year gained. The authors note that any ICER below $5000 per life year gained would be considered cost effective.
"We were not surprised by the fact that screening for MCAD deficiency proved cost-effective, but we were surprised by the fact that only a few patients, severely impaired after a metabolic crisis, were responsible for the majority of the costs," Dr. van der Hilst told Reuters Health.
"A difference with previous studies was the higher cost for 'not screening' in our study because of more detailed patient-level data enabling us to include costs for diagnostic imaging, laboratory tests, consultations, and travel expenses of parents," he added.
In the second study, reported in the same Journal issue, Dr. Marion Haas, from the University of Technology in Sydney, Australia, and colleagues compared costs in 35 children who were diagnosed with MCAD deficiency clinically and 24 who were diagnosed through neonatal screening.
The annual cost per year for inpatient, ER, and outpatient care was $1297 for the screening group compared with $1390 for the unscreened group. The corresponding hospital admission rates were 42 and 71 per cent. Non-screening was also associated with significant increases in ER costs.
MCAD deficiency, an autosomal recessive disease, is the most common disorder involving mitochondrial fatty acid oxidation, Dr. Christian S. van der Hilst, from University Medical Center Groningen, the Netherlands, and colleagues note in their paper published in the Journal of Pediatrics for August.
If not detected early, the disorder is associated with mortality rates as high as 26 per cent. Still, the cost-effectiveness of neonatal screening for MCAD deficiency, which involves the use of tandem mass spectrometry, is unclear.
To investigate, Dr. van der Hilst's team analyzed data from 116 patients with clinically ascertained MCAD deficiency and from 66,216 newborns screened for the disorder, including 11 who were found to be affected. A Monte Carlo simulation was used to assess the incremental cost-effectiveness ratio (ICER) of screening vs. not screening.
Neonatal screening for MCAD deficiency cost $6.10 per newborn, compared with $4.22 for not screening.
Among patients diagnosed on clinical grounds, institutionalization accounted for 64 per cent of total costs. The next most costly expenditure was admissions, which accounted for 17 per cent of total costs.
Neonatal screening resulted in an ICER of $1653 per life year gained. The authors note that any ICER below $5000 per life year gained would be considered cost effective.
"We were not surprised by the fact that screening for MCAD deficiency proved cost-effective, but we were surprised by the fact that only a few patients, severely impaired after a metabolic crisis, were responsible for the majority of the costs," Dr. van der Hilst told Reuters Health.
"A difference with previous studies was the higher cost for 'not screening' in our study because of more detailed patient-level data enabling us to include costs for diagnostic imaging, laboratory tests, consultations, and travel expenses of parents," he added.
In the second study, reported in the same Journal issue, Dr. Marion Haas, from the University of Technology in Sydney, Australia, and colleagues compared costs in 35 children who were diagnosed with MCAD deficiency clinically and 24 who were diagnosed through neonatal screening.
The annual cost per year for inpatient, ER, and outpatient care was $1297 for the screening group compared with $1390 for the unscreened group. The corresponding hospital admission rates were 42 and 71 per cent. Non-screening was also associated with significant increases in ER costs.




