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Benefits outweighed risks linked to screening for metabolic disorder
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Testing for medium chain acyl-CoA dehydrogenase deficiency can yield a false-positive result, but the benefits of diagnosing children with this metabolic disorder early and preventing the risk for mental retardation, disability or death may outweigh the costs of a false-positive, according to researchers.
A false-positive result can often lower a child’s quality of life by costing the family money unnecessarily and subjecting the child to unnecessary dietary restrictions. Therefore, the researchers from the University of Michigan set out to evaluate the cost-effectiveness of screening newborns for medium chain acyl-CoA dehydrogenase deficiency (MCADD).
Children with MCADD are either missing the MCAD enzyme or it is not working properly. As a result, the body cannot break down certain foods to gain energy and also cannot properly turn stored fat into energy. Symptoms for MCADD normally appear for the first time between 3 months old and 2 years old.
Using a computer simulation that calculated costs of screening, parent time, medical costs of follow-up testing, treatment and the quality of life implications of having dietary restrictions, the researchers found that when compared with the possible risks for a metabolic crisis causing brain damage and possible death, it is cost-effective to continue expanded newborn screenings.
The cost of newborn screening amounted to $21,000 for every quality-adjusted life-year that was gained.
“Published studies of expanded newborn screening in a U.S. setting have resulted in favorable cost-effective ratios for screening for this illness but did not include primary data for quality of life effects for a false-positive screen,” Lisa A. Prosser, PhD, an assistant professor in the department of population medicine at the university, said in a press release. “Our results show that newborn screening remains cost-effective after accounting for the measured loss in quality of life associated with a false-positive screen.”
Prosser LA. Pediatrics. 2010;125:e286-e294.