Screening Newborns for a Rare Genetic Disease

A study has shown that screening newborns for a rare but treatable genetic disease benefits both families and society. The study was published in the November 2003 issue of Pediatrics.

Pediatricians and healthcare economists reviewed patient records and data from mass screening programs in several states and analyzed the cost-effectiveness of screening newborns for medium-chain acyl-CoA-dehydrogenase deficiency (MCADD), an inherited but preventable metabolic disease that may go undetected until it causes childhood death or brain damage.

Routine newborn screening has been carried out throughout the United States since the 1970s, and the recent development of tandem mass spectrometry (TMS) has greatly expanded the number of diseases that can be detected. TMS uses the same sample of blood required for conventional screening tests. When the researchers projected their cost model over a 70-year period, they predicted that the savings obtained by avoiding the medical costs of undiagnosed disease would offset nearly all the additional costs of screening for MCADD.

"Our research showed that screening newborns for MCADD is cost-effective compared to not screening,” said corresponding author Charles P. Venditti, M.D., Ph.D. "Furthermore, as automated screening technology continues to enable expanded newborn screening for many genetic diseases, we may find similar benefits for other diseases.” The research team was from the Children's Hospital of Philadelphia (PA, USA) and the University of Pennsylvania School of Medicine (Philadelphia, USA).





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