Review of Current International Decision-Making Processes for Newborn Screening: Lessons for Australia

Metternick-Jones, Selina Carolyne; Lister, Karla J.; Dawkins, Hugh; White, Craig A; Weeramanthri, Tarun

doi:10.3389/fpubh.2015.00214

Cited by 12 publications

(12 citation statements)

References 21 publications

(23 reference statements)

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“…While the Wilson and Jungner criteria have generally been used to assess the benefits and harms of adding conditions to the screening panel, programs may interpret these criteria differently and may also be subject to different political or public pressures to add certain conditions to the panel. As a consequence, different programs often screen for different conditions [ 34 – 36 ]. Some jurisdictions screen for fewer than ten conditions, and others screen for more than fifty.…”

Section: Resultsmentioning

confidence: 99%

Genomic newborn screening: public health policy considerations and recommendations

et al. 2017

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BackgroundThe use of genome-wide (whole genome or exome) sequencing for population-based newborn screening presents an opportunity to detect and treat or prevent many more serious early-onset health conditions than is possible today.MethodsThe Paediatric Task Team of the Global Alliance for Genomics and Health’s Regulatory and Ethics Working Group reviewed current understanding and concerns regarding the use of genomic technologies for population-based newborn screening and developed, by consensus, eight recommendations for clinicians, clinical laboratory scientists, and policy makers.ResultsBefore genome-wide sequencing can be implemented in newborn screening programs, its clinical utility and cost-effectiveness must be demonstrated, and the ability to distinguish disease-causing and benign variants of all genes screened must be established. In addition, each jurisdiction needs to resolve ethical and policy issues regarding the disclosure of incidental or secondary findings to families and ownership, appropriate storage and sharing of genomic data.ConclusionThe best interests of children should be the basis for all decisions regarding the implementation of genomic newborn screening.

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Section: Resultsmentioning

confidence: 99%

Genomic newborn screening: public health policy considerations and recommendations

et al. 2017

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“…Reasons for exclusion were: description of current screening practice, policy, or laws; list of conditions included or considered for inclusion in programme; document stating decision to change programme; document not from national organisation; duplication of included information; patient information; description of organisation or study; no investigation of an included condition; contracts; and not newborn blood spot test (see appendix 4 for references of exclusions with reasons). After exclusions, 93 reports remained 13141516171819202122232428293031323334353637383940414243444546474849505152535455565758596061626364656667686970717273747576777879808182838485868788899091929394959697989910010110...…”

Section: Resultsmentioning

confidence: 99%

“…After exclusions, 93 reports remained 131415161718192021222324282930313233343536373839404142434445464748495051525354555657585960616263646566676869707172737475767778798081828384858687888990919293949596979899100101102103104105106107108. Two covered Australia and New Zealand together,3033 two were from Australia,61…”

Section: Resultsmentioning

confidence: 99%

Association between use of systematic reviews and national policy recommendations on screening newborn babies for rare diseases: systematic review and meta-analysis

Taylor‐Phillips

Stinton

Ruffano

et al. 2018

BMJ

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ObjectiveTo understand whether international differences in recommendations of whether to screen for rare diseases using the newborn blood spot test might in part be explained by use of systematic review methods.DesignSystematic review and meta-analysis.Data sourcesWebsite searches of 26 national screening organisations.Eligibility criteria for study selectionJournal articles, papers, legal documents, presentations, conference abstracts, or reports relating to a national recommendation on whether to screen for any condition using the newborn blood spot test, with no restrictions on date or language.Data extractionTwo reviewers independently assessed whether the recommendation for or against screening included systematic reviews, and data on test accuracy, benefits of early detection, and potential harms of overdiagnosis.AnalysisThe odds of recommending screening according to the use of systematic review methods was estimated across conditions using meta-analysis.Results93 reports were included that assessed 104 conditions across 14 countries, totalling 276 recommendations (units of analysis). Screening was favoured in 159 (58%) recommendations, not favoured in 98 (36%), and not recommended either way in 19 (7%). Only 60 (22%) of the recommendations included a systematic review. Use of a systematic review was associated with a reduced probability of screening being recommended (23/60 (38%)v136/216 (63%), odds ratio 0.17, 95% confidence interval 0.07 to 0.43). Of the recommendations, evidence for test accuracy, benefits of early detection, and overdiagnosis was not considered in 115 (42%), 83 (30%), and 211 (76%), respectively.ConclusionsUsing systematic review methods is associated with a reduced probability of screening being recommended. Many national policy reviews of screening for rare conditions using the newborn blood spot test do not assess the evidence on the key benefits and harms of screening.

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“…Across these countries, Seedat et al ( 14 ) identified 46 unique criteria that were associated with screening in general, most of which related to the screening program (27) as opposed to the condition (7), test (6), and treatment (6). Generally, the reason for expansion beyond the original Wilson and Jungner principles and variation in government decision-making criteria is to ensure processes sufficiently explore the issues most pertinent to each local setting ( 15 , 16 ).…”

Section: Introductionmentioning

confidence: 99%

Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments

Molster

Lister

Metternick-Jones

et al. 2017

Front. Public Health

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BackgroundConsideration of expanded carrier screening has become an emerging issue for governments. However, traditional criteria for decision-making regarding screening programs do not incorporate all the issues relevant to expanded carrier screening. Further, there is a lack of consistent guidance in the literature regarding the development of appropriate criteria for government assessment of expanded carrier screening. Given this, a workshop was held to identify key public policy issues related to preconception expanded carrier screening, which governments should consider when deciding whether to publicly fund such programs.MethodsIn June 2015, a satellite workshop was held at the European Society of Human Genetics Conference. It was structured around two design features: (1) the provision of information from a range of perspectives and (2) small group deliberations on the key issues that governments need to consider and the benefits, risks, and challenges of implementing publicly funded whole-population preconception carrier screening.ResultsForty-one international experts attended the workshop. The deliberations centered primarily on the conditions to be tested and the elements of the screening program itself. Participants expected only severe conditions to be screened but were concerned about the lack of a consensus definition of “severe.” Issues raised regarding the screening program included the purpose, benefits, harms, target population, program acceptability, components of a program, and economic evaluation. Participants also made arguments for consideration of the accuracy of screening tests.ConclusionA wide range of issues require careful consideration by governments that want to assess expanded carrier screening. Traditional criteria for government decision-making regarding screening programs are not a “best fit” for expanded carrier screening and new models of decision-making with appropriate criteria are required. There is a need to define what a “severe” condition is, to build evidence regarding the reliability and accuracy of screening tests, to consider the equitable availability and downstream effects on and costs of follow-up interventions for those identified as carriers, and to explore the ways in which the components of a screening program would be impacted by unique features of expanded carrier screening.

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Review of Current International Decision-Making Processes for Newborn Screening: Lessons for Australia

Cited by 12 publications

References 21 publications

Genomic newborn screening: public health policy considerations and recommendations

Genomic newborn screening: public health policy considerations and recommendations

Association between use of systematic reviews and national policy recommendations on screening newborn babies for rare diseases: systematic review and meta-analysis

Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments

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