Past, present and future of newborn screening in Chile

Cornejo, Verónica; Raimann, Erna; Cabello, Juan Francisco; Valiente, A.; Becerra, Carlos; Opazo, Marina; Colombo, Marta

doi:10.1007/s10545-010-9165-8

Cited by 27 publications

(25 citation statements)

References 13 publications

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“…Once a condition is approved for implementation in a NBS program, an implementation plan focusing on the different levels on which NBS operates and the information needed at each level should be developed (21, 37, 38). Issues across programs are similar when looking at implementation and relate to five fields: education, finances, logistics, politics, and culture (5, 24).…”

Section: Resultsmentioning

confidence: 99%

“…Policy making for NBS can be governed both locally and nationally (38, 42). Governance is a process that focuses on balancing competing influences and demands (43).…”

Section: Resultsmentioning

confidence: 99%

“…In addition, consultation and engagement is a key theme, which some authors highlight should be managed through a multidisciplinary advisory committee providing advice through the policy cycle (28). An advisory committee could advise them on implementation, development, review, modification, and cessation of (parts of) NBS (21, 29, 38). …”

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%

“…Policy making for NBS can be governed both locally and nationally (38, 42). Governance is a process that focuses on balancing competing influences and demands (43).…”

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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“…Regarding CH the incidence is 1: 3,163 NB, with average age at diagnosis of 12.5 ± 6.9 days and the incidence of hyperthyrotrophinemia is 1: 11.634 NB (Cornejo et al. 2010). In July 2005, Law No.…”

Section: Newborn Screeningmentioning

confidence: 99%

Medical genetics and genomic medicine in Chile: opportunities for improvement

Taucher

2015

Molec Gen & Gen Med

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“…The screening programs must be evaluated systematically, and the results of this evaluation can modify the routine of the service and affect public care management (13,14). The present Brazilian Health Ministry NS policy implemented in 2001 established the University Hospital of the Universidade Federal de Sergipe as the unique center allowed to perform neonatal screening in the State of Sergipe (SE), which is mandatory in the public health care system.…”

Section: Introductionmentioning

confidence: 99%

Evaluation of effectiveness and outcome of PKU screening and management in the State of Sergipe, Brazil

Ramalho

Oliveira

et al. 2014

Arq Bras Endocrinol Metab

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Objectives: Phenylketonuria (PKU) was the first inherited metabolic disease known to cause mental retardation for which a newborn screening program (NBS) was developed. The objective of this study was to evaluate the effectiveness of PKU NBS and the management of cases in the northeastern Brazilian state of Sergipe (SE). Materials and methods: We reviewed the phenylalanine concentrations in filter-paper collected from the heel (PKUneo) of 43,449 newborns; blood concentrations obtained by venipuncture in the subjects with abnormal PKUneo; the children's age at several phases of the program, the incidence of the disease from January 2007 to June 2008; and metabolic control of the patients. Results: The coverage of NBS/SE was 78.93%. The children's age was 10 ± 7 days at PKUneo collection. Twelve children were recalled based on the PKUneo cutoff value at 28 ± 13 days. From these, the concentrations of phenylalanine collected by venipuncture were normal in five children. The incidence of hyperphenylalaninemia was 1/43,449, and of PKU was 1/8,690 (5 cases). One suspected subject died. Another death occurred in the cohort, in a confirmed PKU case. PKU treatment began within 51 ± 12 days of life. In the four patients under dietary phenylalanine restriction, metabolic control was often difficult. Conclusions: PKU NBS/SE has satisfactory coverage and adequate cutoff for recalling patients and diagnosis, but the onset of treatment is delayed, and follow-up metabolic control is frequently inadequate. Arq Bras Endocrinol Metab. 2014;58(1):62-7 Keywords Phenylketonuria; screening neonatal; phenylalanine; coverage; incidence RESUMO Objetivos: A fenilcetonúria (PKU) foi a primeira causa metabólica hereditária de retardamento mental para a qual foi desenvolvido um programa de triagem em recém-nascidos (NBS). O objetivo deste estudo foi avaliar a eficácia do NBS para a PKU e o manejo dos casos em Sergipe (SE), Brasil. Materiais e métodos:Revisamos as concentrações de fenilalanina no filtro de papel coletado do calcanhar (PKUneo) de 43.449 recém-nascidos, suas concentrações de sangue obtidas por punção venosa em indivíduos com PKUneo anormal, a idade das crianças em diversas fases do programa, a incidência da doença no período de janeiro de 2007 a junho de 2008 e o controle metabólico dos pacientes. Resultados: A cobertura da NBS/SE foi de 78,93%. A idade das crianças era de 10 ± 7 dias na coleta de PKUneo. Doze crianças foram reconvocadas com base no ponto de corte de PKUneo aos 28 ± 13 dias de idade. Destas, as concentrações de fenilalanina por venipunctura foram normais em cinco. A incidência da hiperfenilalaninemia foi 1/43.449 e de PKU foi 1/8.690 (5 casos), e um indivíduo suspeito foi a óbito. Outro óbito ocorreu na coorte em um caso de PKU confirmado. O tratamento para a PKU começou com 51 ± 12 dias. Nos quatro pacientes sob restrição de fenilalanina alimentar, o controle metabólico foi frequentemente difícil. Conclusões: PKU NBS/SE apresenta uma cobertura satisfatória e ponto de corte adequado para reconvocação e ...

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Past, present and future of newborn screening in Chile

Cited by 27 publications

References 13 publications

Policy Making in Newborn Screening Needs a Structured and Transparent Approach

Policy Making in Newborn Screening Needs a Structured and Transparent Approach

Medical genetics and genomic medicine in Chile: opportunities for improvement

Evaluation of effectiveness and outcome of PKU screening and management in the State of Sergipe, Brazil

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