What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children

Hinton, Cynthia F.; Feuchtbaum, Lisa; Kus, Christopher A.; Kemper, Alex R.; Berry, Susan A.; Levy-Fisch, Jill; Luedtke, Julie; Kaye, Celia I.; Boyle, Coleen A.

doi:10.1097/gim.0b013e3182209f09

Cited by 35 publications

(31 citation statements)

References 18 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…An important framework to put principles into practice has recently been published by the US Secretary for Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children (Hinton et al 2011). A two axes model of long-term follow-up (LTFU) for newborn screening has been formulated.…”

Section: The European Nbs Body (Or the National Nbs Bodies)mentioning

confidence: 99%

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 – From screening laboratory results to treatment, follow‐up and quality assurance

Burgard

Rupp

Lindner

et al. 2012

J of Inher Metab Disea

View full text Add to dashboard Cite

In a survey conducted in 2010/2011 data from the 28 EU member states, four EU candidate states (Croatia, FYROM, Iceland, Turkey), three potential EU candidate states (Bosnia Herzegovina, Montenegro, Serbia), and two EFTA states (Norway and Switzerland) were collected. The status and function of newborn screening (NBS) programmes were investigated from the information to prospective parents and the public via confirmation of a positive screening result up to decisions on treatment. This article summarises the results from screening laboratory findings to start of treatment. In addition we asked about the existence of feedback loops reporting the conclusions of confirmation of screening results to the screening laboratory and communication of long-term outcome to diagnostic units and possibly existing central registries. Parallel to the description of actual practices of where, how and by whom the different steps of the programmes are executed, we also asked for the existence of guidelines or directives regulating the screening programmes, material to support information of parents about diagnoses and treatment and training facilities for professionals involved in the programmes. This survey gives a first comprehensive overview of the steps following a positive screening result in European NBS programmes. The 37 data sets reveal substantial variation of national screening panels, but also a lot of similarities. Analysis across all countries revealed that actual practice is often organised but not regulated by guidelines. Material to inform patients is available more often for explaining treatment (69 %) than explaining the necessity of confirmatory diagnostics (41 %). Training of professionals is rarely regulated by a guideline (2 %), but is offered for paediatricians (40 %) and dieticians (29 %) and only rarely for other professions (e.g. geneticists, clinical nurse specialists, psychologists). Registry-based evaluation of long-term outcome is as yet almost nonexistent (3 %).

show abstract

Section: The European Nbs Body (Or the National Nbs Bodies)mentioning

confidence: 99%

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 – From screening laboratory results to treatment, follow‐up and quality assurance

Burgard

Rupp

Lindner

et al. 2012

J of Inher Metab Disea

View full text Add to dashboard Cite

show abstract

“…A workshop convened by the U.S. Secretary of Health and Human Services Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) proposed data collection for care coordination, including access to care, evidencebased treatment outcomes, continuous quality improvement, and engagement in new knowledge discovery including access to clinical research [36]. At a minimum, data collection on treatment efficacy, complications from treatment, treatment outcomes, complications from underlying disorders, quality of life, and cost-effectiveness should occur.…”

Section: Newborn Screening Follow-upmentioning

confidence: 99%

Newborn screening for severe combined immune deficiency (technical and political aspects)

Kobrynski

2015

Current Opinion in Allergy &Amp; Clinical Immunology

View full text Add to dashboard Cite

SCID fulfills criteria for a condition that should be included in routine newborn screening. Data presented from multiple newborn screening programs in the United States and Europe have shown that high throughput screening of all newborns is cost-effective. Screening improves early detection of this life-threatening condition and follow-up studies have shown a clear improvement in survival for early treatment.

show abstract

“…The FUTR identified necessary outcome measure categories (6). Members of the FUTR, in consultation with other stakeholders (see authorship and ACHDNC membership http://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/about/index.html), identified potential data elements and data sources to create a draft framework.…”

Section: Developing the Frameworkmentioning

confidence: 99%

“…The driver diagram model focuses efforts on the specific key outcomes of NBS, and the necessary processes at a conceptual level to achieve these outcomes, making it a useful tool for future efforts in quality assessment and improvement. The driver diagram is informed by the attributes and overarching questions that define long-term follow-up for newborn screening (1, 6). For the current application, optimal physical, developmental and social outcomes for children with NBS conditions are the specific aims, with the primary drivers identified as the factors or system components needed to achieve that aim.…”

Section: Developing the Frameworkmentioning

confidence: 99%

A framework for assessing outcomes from newborn screening: on the road to measuring its promise

Hinton

Homer

Thompson

et al. 2016

Molecular Genetics and Metabolism

Self Cite

View full text Add to dashboard Cite

Newborn screening (NBS) is intended to identify congenital conditions prior to the onset of symptoms in order to provide early intervention that leads to improved outcomes. NBS is a public health success, providing reduction in mortality and improved developmental outcomes for screened conditions.. However, it is less clear to what extent newborn screening achieves the long-term goals relating to improved health, growth, development and function. We propose a framework for assessing outcomes for the health and well-being of children identified through NBS programs. The framework proposed here, and this manuscript, were approved for publication by the Secretary of Health and Human Services’ Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). This framework can be applied to each screened condition within the Recommended Uniform Screening Panel (RUSP), recognizing that the data elements and measures will vary by condition. As an example, we applied the framework to sickle cell disease and phenylketonuria (PKU), two diverse conditions with different outcome measures and potential sources of data. Widespread and consistent application of this framework across state NBS and child health systems is envisioned as useful to standardize approaches to assessment of outcomes and for continuous improvement of the NBS and child health systems.

show abstract

What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children

Cited by 35 publications

References 18 publications

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 – From screening laboratory results to treatment, follow‐up and quality assurance

Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2 – From screening laboratory results to treatment, follow‐up and quality assurance

Newborn screening for severe combined immune deficiency (technical and political aspects)

A framework for assessing outcomes from newborn screening: on the road to measuring its promise

Contact Info

Product

Resources

About