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To the Editor: Dr Holtzman, in his Editorial¹ accompanying our study of expanded newborn screening for biochemical genetic disorders,² stated that adoption of new screening technology was brought about by pressure from medico-legal proceedings initiated by parents. He did not mention, however, the strong and dedicated advocacy from metabolic and genetic physicians, individually and through organizations such as the Society of Inherited Metabolic disorders, who recognized the potential benefit to patients and their families.

Holtzman focused on the relatively low frequency of each genetic disorder rather than the combined frequency of all disorders identified by a single analysis. We are especially concerned that he then excluded the frequency of medium-chain acyl-CoA dehydrogenase deficiency (MCADD), the most frequent of the identified disorders. We point out that expanded screening by tandem mass spectrometry identifies 1 infant in 3800 with a disorder, a prevalence similar to that of congenital hypothyroidism.³

Finally, Holtzman implied . . . [Full Text of this Article]

Susan E. Waisbren, PhD; Harvey L. Levy, MD
Children's Hospital
Boston, Mass

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