Advisability of expanding the Québec Newborn Blood Screening Program

Inborn errors of metabolism (IEMs) are hereditary diseases whose first symptoms usually appear during the neonatal period and childhood. Tandem mass spectrometry (MS/MS) is a recent technology which can be used to screen for about 40 IEMs using a single blood sample at a low marginal cost. The ministère de la Santé et des Services sociaux (MSSS) is looking into the possibility of expanding the Québec Newborn Blood Screening Program (PQDNS) and asked INESSS to advise on 21 diseases that could be screened for with blood during the neonatal period.

In light of this assessment, INESSS concludes that it is advisable to screen for all the diseases of interest by expanding the PQDNS, but to varying degrees, and issues recommendations.