Screening newborns for a rare but treatable genetic disease benefits families and society, according to a team of pediatricians and health care economists who analyzed patient records and data from mass screening programs in several states. The study appears in the November issue of Pediatrics.
The researchers, from The Childrens Hospital of Philadelphia and The University of Pennsylvania School of Medicine, analyzed the cost-effectiveness of screening for medium-chain acyl-CoA-dehydrogenase deficiency, or MCADD. An inherited metabolic disease that impairs energy production from stores of body fat, MCADD may go undetected until it causes childhood death or brain damage.
"Our research showed that screening newborns for MCADD is cost-effective compared to not screening," said Charles P. Venditti, M.D., Ph.D., the studys corresponding author. "Furthermore, as automated screening technology continues to enable expanded newborn screening for many genetic diseases, we may find similar benefits for other diseases." (A specialist in pediatric biochemical genetics at the University of Pennsylvania and The Childrens Hospital of Philadelphia during the period of the study, Dr. Venditti is now at the National Human Genome Research Institute of the National Institutes of Health.)
John Ascenzi | EurekAlert!
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