Tandem mass spectrometry and neonatal blood screening in Québec

This report was prepared at the request of the Ministry of Health, in the context of scientific debates and pressure in favour of adopting tandem mass spectrometry (MS/MS) for neonatal blood screening of inborn errors of metabolism.

Even though there are gaps in the data, current evidence supports the clinical utility of neonatal screening for the three diseases in question: phenylketonuria (PKU), tyrosinemia type 1 (TT1) by MS/MS and Medium-Chain Acyl-CoA Dehydrogenase Deficiency (MCADD). The judiciousness of a technology transfer and its optimal timing depend on a number of ethical, social, legal, economic and organizational issues, in addition to the scientific and technical considerations. Therefore, AETMIS proposes three separate scenarios for consideration by policy-makers.