Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening?

Petros, Michael

doi:10.1038/gim.0b013e31823331d0

Cited by 52 publications

(27 citation statements)

References 12 publications

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“…However, a key issue relating to the assessment of nominated conditions centered on the appropriateness of using criteria originating from the Wilson and Jungner principles (10, 28, 29). Criticisms are voiced that the Wilson and Jungner principles are developed to evaluate individual conditions, while modern day technology pushes toward the possibility and sometimes the need to evaluate groups of conditions at once (30, 31). Furthermore, there is no objective tool developed from the Wilson and Jungner principles, which leaves them open to interpretation into different criteria between programs (31).…”

Section: Resultsmentioning

confidence: 99%

“…Governance is a process that focuses on balancing competing influences and demands (43). The need for harmonization of national policies is often referred to in literature: to ensure a national balance in competing interests and equity in access to early interventions (29, 31). A central body like a national or federal government should play a core role in overseeing NBS.…”

Section: Resultsmentioning

confidence: 99%

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Policy Making in Newborn Screening Needs a Structured and Transparent Approach

Jansen

Lister

Kranen

et al. 2017

Front. Public Health

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PurposeNewborn bloodspot screening (NBS) programs have expanded significantly in the past years and are expected to expand further with the emergence of genetic technologies. Historically, NBS expansion has often occurred following ad hoc consideration of conditions, instead of a structured and transparent approach. In this review, we explore issues pertinent to NBS policy making, through the lens of the policy cycle: (a) agenda setting, (b) policy advice, (c) policy decision, (d) implementation, and (e) evaluation.MethodsA literature search was conducted to gather information on the elements specific to NBS and its policy making process.ResultsThe review highlighted two approaches to nominate a condition: a structured approach through horizon scanning; and an ad hoc process. For assessment of a condition, there was unanimous support for a robust process based on criteria. While the need to assess harms and benefits was a repeated theme in the articles, there is no agreed-upon threshold for benefit in decision-making. Furthermore, the literature was consistent in its recommendation for an overarching, independent, multidisciplinary group providing recommendations to government. An implementation plan focusing on the different levels on which NBS operates and the information needed on each level is essential for successful implementation. Continuously monitoring, and improving a program is vital, particularly following the implementation of screening for a new condition. An advisory committee could advise on implementation, development, review, modification, and cessation of (parts of) NBS.ConclusionThe results highlight that there are a wave of issues facing NBS programs that policy makers must take into account when developing policy processes. What conditions to screen, and the technologies used in NBS, are both up for debate.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Policy Making in Newborn Screening Needs a Structured and Transparent Approach

Jansen

Lister

Kranen

et al. 2017

Front. Public Health

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“…The main reasons are that many disorders account as orphan diseases, the natural history of the diseases is not well characterized, an effective treatment may not be available or, treatment effects are highly uncertain [22]. For example, for CF, the evidence on effectiveness is ambiguous [5].…”

Section: Discussionmentioning

confidence: 99%

Funding Decisions for Newborn Screening: A Comparative Review of 22 Decision Processes in Europe

Fischer

Rogowski

2014

IJERPH

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Decision-makers need to make choices to improve public health. Population-based newborn screening (NBS) is considered as one strategy to prevent adverse health outcomes and address rare disease patients’ needs. The aim of this study was to describe key characteristics of decisions for funding new NBS programmes in Europe. We analysed past decisions using a conceptual framework. It incorporates indicators that capture the steps of decision processes by health care payers. Based on an internet survey, we compared 22 decisions for which answers among two respondents were validated for each observation. The frequencies of indicators were calculated to elicit key characteristics. All decisions resulted in positive, mostly unrestricted funding. Stakeholder participation was diverse focusing on information provision or voting. Often, decisions were not fully transparent. Assessment of NBS technologies concentrated on expert opinion, literature review and rough cost estimates. Most important appraisal criteria were effectiveness (i.e., health gain from testing for the children being screened), disease severity and availability of treatments. Some common and diverging key characteristics were identified. Although no evidence of explicit healthcare rationing was found, processes may be improved in respect of transparency and scientific rigour of assessment.

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“…The main goal of NBS is to detect newborns with severe IEMs in a presymptomatic period and start treatment as soon as possible to prevent complications such as death, mental retardation, and metabolic crisis (Wilson–Jungner Criteria) (Petros 2012). One consequence of NBS is detecting patients with partial enzyme deficiencies such as partial biotinidase deficiency or DG galactosemia who may never need treatment (Ficicioglu et al 2008).…”

mentioning

confidence: 99%

New tools and approaches to newborn screening: ready to open Pandora's box?

Fıçıcıoğlu¹

2017

Cold Spring Harb Mol Case Stud

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The landscape of newborn screening (NBS) is changing as new tools are developed. We must acknowledge that NBS is a very important and extraordinarily positive initiative especially for rare and serious inherited disorders; however, lessons learned from current NBS should guide the future of NBS as we enter the era of “omics” that will expand NBS for many other genetic disorders. In this article, I will first discuss new tools such as genomics and metabolomics for NBS. I will then turn to assessing how best to take advantage of new technical developments while considering the best interests of patients and the success of newborn screening.

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Revisiting the Wilson-Jungner criteria: how can supplemental criteria guide public health in the era of genetic screening?

Cited by 52 publications

References 12 publications

Policy Making in Newborn Screening Needs a Structured and Transparent Approach

Policy Making in Newborn Screening Needs a Structured and Transparent Approach

Funding Decisions for Newborn Screening: A Comparative Review of 22 Decision Processes in Europe

New tools and approaches to newborn screening: ready to open Pandora's box?

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