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Reply to A Mackie

On behalf of the authors, I write to reply to the Letter to the Editor from Dr Mackie: UK National Screening Committee criteria: clarification of two misunderstandings, published in this issue of EJHG.

We thank Dr Mackie and her team for taking the time to respond to our work and clarifying the review process from the UK perspective. As Dr Mackie's letter highlights, comparisons of screening decisions are useful, yet hard to construct, since decision processes are rarely documented in peer reviewed literature.1, 2 It is only through much needed international discourse around newborn screening that transparency and learnings across the globe can be achieved. In this instance, while efforts were made to engage programs across the globe to support such a discourse, more was needed in terms of reaching out specifically to the UK National Screening Committee (NSC). To this end, we very much welcome Dr Mackie’s correspondence to ensure the UK’s program is accurately represented.

The UK NSC publishes extensive and insightful reviews and recommendation statements, and their efforts and successes are admirable. Newborn screening programs are always under development, and while the programs are flexible in responding to a dynamic environment, continued robust policies are needed to develop safe and appropriate programs. Dr Mackie’s clarifications of the UK’s assessment of (1) the level of evidence and (2) the criterion on clinical management indeed illustrate the complexity of screening and clinical care for newborn babies with rare conditions. Considering newborn screening programs as a comprehensive system with impact on clinical care is the only way to make careful decision together with the clinical partners.3 We value open and honest discourse and consider it key in learning internationally.


  1. 1

    Cornel MC, Rigter T, Weinreich SS et al: A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document. Eur J Hum Genet 2014; 22: 12–17.

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  2. 2

    Therrell BL, Padilla CD, Loeber JG et al: Current status of newborn screening worldwide: 2015. Semin Perinatol 2015; 39: 171–187.

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  3. 3

    Grosse SD, Boyle CA, Kenneson A, Khoury MJ, Wilfond BS : From public health emergency to public health service: the implications of evolving criteria for newborn screening panels. Pediatrics 2006; 117: 923–929.

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Correspondence to Marleen Jansen.

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The author declares no conflict of interest.

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Jansen, M. Reply to A Mackie. Eur J Hum Genet 25, 791–792 (2017).

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