Decision-Making About Newborn Screening Panels in Canada: Risk Management and Public Participation

Abstract

Newborn Bloodspot Screening (NBS) enables diagnosis and early treatment of rare diseases in non-symptomatic neonates. NBS has well-documented benefits for babies, their families, and the healthcare system at large. In recent decades, rapid advances in screening technologies enabled the proliferation of testable diseases. This has led to increased discussion of both the benefits relevant to decision-making but also the health, economic and ethical challenges associated with the expansion of NBS panels. However, technological capability is not the sole driver of panel expansions, and we suggest that decisions to add a condition to the screening panel constitute exercises in risk management. Using a risk governance lens, this chapter examines procedures that govern decision-making concerning screening panel additions in several Canadian NBS programs. Specifically, we draw on an analysis of documents in the public domain and interviews with individuals associated with Canadian NBS programs to identify the risk management tools that are applied. Our analysis indicates that there is a reliance on the advice of experts and economic controls but limited public participation in decisions about screening panels. We conclude with a discussion of why democratization might strengthen decision-making and offer recommendations to practitioners and scholars regarding next steps and future research.

Current Status of Newborn Bloodspot Screening Worldwide 2024: A Comprehensive Review of Recent Activities (2020–2023)

“…During the last week of January 2024, Krabbe disease (KD) was approved by the ACHDNC and forwarded to the SHHS for final approval for addition to the RUSP. Reports in both the USA and Canada have recently commented on the selection process for NBS conditions: a chapter on NBS condition selection in Canada focused on risk governance concluding that transparency in Canadian screening panel selection is low, with the exception of Ontario, and resource limitations are at the heart of condition selections [ 41 ]; and a USA report briefly reviewed the history of NBS and discussed NBS mandates and the risks to their public acceptance/rejection posed by expanded screening and the potential for increased false-positive screens [ 42 ]. Recommendations for improvements in the USA system were included in a 2022 USA report [ 35 ] that suggested, “ …better defining the criteria by which screening targets are established; financing the NBS system’s responsiveness to opportunities for expansion, including engagement and funding from stakeholders; creating a national quality assurance, data, IT, and communications infrastructure; and improving intra-governmental communications ”.…”