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In Reply: At the end of their article, Dr Waisbren and colleagues¹ posed several questions and concluded, "Hopefully, continued study will permit detailed analyses of these questions so that rational decision making will occur." They now criticize my omission of "metabolic and genetic physicians" as advocates for expanded screening. I cannot speak for these physicians, but I would prefer to wait until the evidence supported "rational decision making" before becoming an advocate.

If all of the genetic defects detected by tandem mass spectrometry had equal penetrance and expressivity, then I would agree that it would be appropriate to consider the frequency of all disorders identified by a single analysis. That they are detected by a single analysis increases efficiency, but as long as the disorders differ in phenotype they cannot be lumped together. I did note that "tandem mass spectrometry detected 10.6 infants with 12 conditions per 100 000 births" and . . . [Full Text of this Article]

Neil A. Holtzman, MD, MPH
Institute of Genetic Medicine
The Johns Hopkins Medical Institutions
Baltimore, Md

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