Expanded Neonatal Bloodspot Screening Programmes: An Evaluation Framework to Discuss New Conditions With Stakeholders

Jansen, Marleen E.; Klein, Anne W.; Buitenhuis, Erika C.; Rodenburg, Wendy; Cornel, Martina C.

doi:10.3389/fped.2021.635353

Cited by 7 publications

(10 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As a theoretical framework, the public health policy cycle as described in Jansen et al (2021) was used to extract critical aspects ( Figure 2 ). From these, we explored to what extent and how public health benefit was being pursued in the genomic initiatives.…”

Section: Methodsmentioning

confidence: 99%

“…How activities within these phases are organized, may affect the results of a national genomics initiative. Adapted from Jansen et al (2021) , Frontiers in Pediatrics.…”

Section: Methodsmentioning

confidence: 99%

“…The public health policy cycle offers a framework to review the different aspects of start and roll out of national genomics initiatives. Phases that are distinguished in the public health policy framework are: agenda setting, policy advice, policy decision, implementation and evaluation ( Jansen et al, 2021 ). Although in practice this order of succession is not always followed, an initiative generally starts with interest from specific stakeholders, including policy makers, which influences its place on the political agenda.…”

Section: Introductionmentioning

confidence: 99%

“…Following an assessment by experts and/or decision makers, policy advice is drafted outlining if and how to proceed with a national’s genomics initiative. After a positive policy decision, the initiative embarks on implementation, for example the start of research activities, and is evaluated throughout the process and after finalizing the genomics initiative ( Jansen et al, 2021 ).…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Pursuing Public Health Benefit Within National Genomic Initiatives: Learning From Different Policies

et al. 2022

Self Cite

View full text Add to dashboard Cite

Introduction: Population-based genomic research is expected to deliver substantial public health benefits. National genomics initiatives are widespread, with large-scale collection and research of human genomic data. To date, little is known about the actual public health benefit that is yielded from such initiatives. In this study, we explore how public health benefit is being pursued in a selection of national genomics initiatives.Methods: A mixed-method study was carried out, consisting of a literature-based comparison of 11 purposively sampled national genomics initiatives (Belgium, Denmark, Estonia, Finland, Germany, Iceland, Qatar, Saudi Arabia, Taiwan, United Kingdom (UK), and United States (USA)), and five semi-structured interviews with experts (Denmark, Estonia, Finland, UK, USA). It was analyzed to what extent and how public health benefit was pursued and then operationalized in each phase of an adapted public health policy cycle: agenda setting, governance, (research) strategy towards health benefit, implementation, evaluation.Results: Public health benefit within national genomics initiatives was pursued in all initiatives and also operationalized in all phases of the public health policy cycle. The inclusion of public health benefit in genomics initiatives seemed dependent on the outcomes of agenda setting, such as the aims and values, as well as design of governance, for example involved actors and funding. Some initiatives focus on a research-based strategy to contribute to public health, while others focus on research translation into healthcare, or a combination of both. Evaluation of public health benefits could be performed qualitatively, such as assessing improved public trust, and/or quantitatively, e.g. research output or number of new diagnoses. However, the created health benefit for the general public, both short- and long-term, appears to be difficult to determine.Conclusion: Genomics initiatives hold the potential to deliver health promises of population-based genomics. Yet, universal tools to measure public health benefit and clarity in roles and responsibilities of collaborating stakeholders are lacking. Advancements in both aspects will help to facilitate and achieve the expected impact of genomics initiatives and enable effective research translation, implementation, and ultimately improved public health.

show abstract

Section: Methodsmentioning

confidence: 99%

“…How activities within these phases are organized, may affect the results of a national genomics initiative. Adapted from Jansen et al (2021) , Frontiers in Pediatrics.…”

Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Pursuing Public Health Benefit Within National Genomic Initiatives: Learning From Different Policies

et al. 2022

Self Cite

View full text Add to dashboard Cite

show abstract

“…It is to be noted that the UK does not screen PCD, to date, even though in 2009, England had conducted a pilot study of amino acid and acylcarnitines analysis on cord blood samples to identify inborn errors of metabolism [ 42 ]. The Netherlands have listed PCD, along with seven other diseases, in the upcoming schedule of NBS expansion [ 43 ], and France will be including PCD to NBS at the beginning of 2023.…”

Section: Worldwide Overview Of Primary Carnitine Deficiency Newborn S...mentioning

confidence: 99%

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

Lefèvre

Labarthe

Dufour

et al. 2023

IJNS

View full text Add to dashboard Cite

Primary Carnitine Deficiency (PCD) is a fatty acid oxidation disorder that will be included in the expansion of the French newborn screening (NBS) program at the beginning of 2023. This disease is of high complexity to screen, due to its pathophysiology and wide clinical spectrum. To date, few countries screen newborns for PCD and struggle with high false positive rates. Some have even removed PCD from their screening programs. To understand the risks and pitfalls of implementing PCD to the newborn screening program, we reviewed and analyzed the literature to identify hurdles and benefits from the experiences of countries already screening this inborn error of metabolism. In this study, we therefore, present the main pitfalls encountered and a worldwide overview of current practices in PCD newborn screening. In addition, we address the optimized screening algorithm that has been determined in France for the implementation of this new condition.

show abstract

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

Beck¹,

Frank²,

Minaeian³

et al. 2023

Democratizing Risk Governance

View full text Add to dashboard Cite

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.

show abstract

Expanded Neonatal Bloodspot Screening Programmes: An Evaluation Framework to Discuss New Conditions With Stakeholders

Cited by 7 publications

References 12 publications

Pursuing Public Health Benefit Within National Genomic Initiatives: Learning From Different Policies

Pursuing Public Health Benefit Within National Genomic Initiatives: Learning From Different Policies

Newborn Screening of Primary Carnitine Deficiency: An Overview of Worldwide Practices and Pitfalls to Define an Algorithm before Expansion of Newborn Screening in France

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

Contact Info

Product

Resources

About