Abstract
Emerging technologies like Tandem Mass Spectrometry (TMS) enable multiple tests on a single blood sample and allow the expansion of Newborn Screening (NBS) to include various metabolic diseases. Introducing TMS for NBS raises important social and ethical questions: what are the criteria for adding disorders to screening panels? What evidence justifies expansion of screening? How can equity in NBS access and standards be ensured? How can policy standards be set, given the multiplicity of stakeholders?
To address emerging issues, policy-makers, patient advocates, clinicians and researchers had a workshop during the 2005 Garrod Symposium. The participants received a summary of the discussion and understood the workshop’s goal was to provide a basis for further discussion. This article contributes to this ongoing discussion.
Several proposed recommendations assert the centrality of including social and ethical issues in the assessment of whether or not to introduce TMS. The article outlines five key recommendations for advancing the NBS agenda: national public health leadership; transparency; increased national consistency in NBS strategy, including minimum standards; collaboration between the federal and provincial/territorial governments and diverse stakeholders; and supporting research and/or programs based on effectiveness, which integrate ethical and social issues into assessment.
MeSH terms: Neonatal screening, ethics, health policy, mass spectrometry
Résumé
L’émergence de nouvelles technologies comme la spectrométrie de masse en tandem (MS/MS) permet d’effectuer plusieurs tests sur un même échantillon sanguin, ce qui accroît la portée du dépistage néonatal (DNN). L’utilisation de la MS/MS dans le cadre du DNN soulève d’importants enjeux sociaux et éthiques. Quels sont les critères permettant l’ajout de maladies aux programmes de dépistage? Comment justifier l’expansion du dépistage? Comment assurer l’équité de l’accès et des normes en matière de DNN? Comment élaborer des politiques normatives, étant donné la multiplicité des parties intéressées?
Des décideurs, des défenseurs des droits des patients, des cliniciens et des chercheurs ont participé à un atelier lors d’un symposium organisé par la Garrod Association en 2005. Les participants ont reçu un résumé des débats et ont compris que l’atelier, tout comme le présent article, jetterait les bases d’une discussion ultérieure.
Il est important d’inclure les enjeux sociaux et éthiques dans l’évaluation de l’utilisation de la MS/MS. Cet article expose cinq recommandations-clés concernant le DNN: leadership national en santé publique; transparence; uniformité des stratégies nationales, incluant des normes minimales; collaboration entre les gouvernements et les parties intéressées; et soutien à la recherche et/ou aux programmes efficaces qui tiennent compte des enjeux sociaux et éthiques.
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