Abstract
Despite international adoption of newborn bloodspot screening (DBS), no two countries' screening programs are the same. This article aims to understand what factors influence DBS decision-making criteria and how conditions are assessed against them. In doing so, it offers unique insights into the international landscape of DBS. A systematic review on DBS criteria in scientific literature was first undertaken. Through this, five topics were identified for consideration when analyzing DBS decision-making. Using these five topics as a template, a side-by-side comparison was conducted on DBS in policy documents of eight countries. Programs are using different approaches to explore the same policy issues, including: the beneficiary of DBS, definition of criteria, the way conditions are assessed, level of evidence required, and recommendations after assessment. These differences have the potential to result in increased disparity across DBS internationally. Ultimately, governments need to decide on their role and develop an approach to DBS decision-making in line with this role. The analyses presented in this article highlight that despite programs' commonalities, no one 'DBS decision-making solution' exists. Understanding the different approaches to decision-making within the literature and policy settings, provides an objective starting point for structured decision-making approaches for DBS programs.
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Acknowledgements
MEJ acknowledges APOGEE-Net/CanGèneTest (Canada, PI Prof A Brand, PhD MD) and Haak Bastiaanse Kuneman Stichting (Netherlands, PI ME Jansen, MSc) for their financial support. The financial support facilitated a research visit to the Office of Population Health Genomics, Perth Western Australia.
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Jansen, M., Metternick-Jones, S. & Lister, K. International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documents. Eur J Hum Genet 25, 10–16 (2017). https://doi.org/10.1038/ejhg.2016.126
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DOI: https://doi.org/10.1038/ejhg.2016.126
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