Guidance on newborn screening for metabolic disorders

11 April 2012

The US Centers for Disease Control and Prevention (CDC) has issued new practice recommendations for newborn screening for inherited metabolic disorders.

The guidance in the Morbidity and Mortality Weekly Report notes the on-going challenges of maintaining high quality testing services as the number of different inherited metabolic diseases included in newborn screening programmes increases.
The new guidelines are intended to help US laboratories meet required standards and quality assurance measures, including factors for consideration before the inclusion of new tests. These range from assessing analytical and clinical validity and utility, cost-effectiveness and reimbursement procedures through to wider concerns such as the availability of clinical follow-up.
Comment: The technical potential to include many more metabolic disorders in newborn screening panels requires careful evaluation before the introduction of new conditions, as highlighted in this guidance. Newborn screening in the US already includes a relatively large number of rare inherited metabolic disorders, but even the more conservative UK has just announced plans to pilot an expanded panel including five additional conditions (see previous news).

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