For Publishers
DiscoveryMetadataPeer reviewHostingPublishing
For Researchers
JoinPublishReviewCollect
Register
Blog
About
Search
Advanced search
My ScienceOpen
Search
For Publishers
For Researchers
Blog
About
28
views
38
references
 Top references
cited by
8
    
0 reviews
 Review
0
comments
 Comment
0
recommends
+1 Recommend
0 collections
    0
    shares
      177
      similar
       All similar
      • Record: found
      • Abstract: found
      • Article: found
      Is Open Access

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

      research-article

      Read this article at

      ScienceOpenPublisherPMC
      Bookmark
          There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.

          Abstract

          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.

          Related collections

          Most cited references38

          • Record: found
          • Abstract: not found
          • Article: not found

          World Medical Association Declaration of Helsinki: ethical principles for medical research involving human subjects.

          (2015)
          Article 0 comments Cited 148 times – based on 0 reviews     Review now
            Bookmark
            • Record: found
            • Abstract: found
            • Article: not found

            Newborn screening.

            Bridget Wilcken, Veronica Wiley (2008)
            The aim of newborn screening is to detect newborns with serious, treatable disorders so as to facilitate appropriate interventions to avoid or ameliorate adverse outcomes. Mass biochemical testing of newborn babies was pioneered in the 1960s with the introduction of screening for phenylketonuria, a rare inborn error of metabolism, tested by using a dried blood spot sample. The next disorder introduced into screening programs was congenital hypothyroidism and a few more much rarer disorders were gradually included. Two recent advances have greatly changed the pace: modification of tandem mass spectrometry and DNA extraction and analysis from newborn screening dried blood spot. These two technologies make the future possibilities of newborn screening seem almost unlimited. Newborn screening tests are usually carried out on a dried blood spot sample, for which there are special analytical considerations. Dried blood spot calibrators and controls, prepared on the same lot number of filter paper, are needed. Methods have a co-efficient of variation of about 10% due to the increased variability of a dried filter paper sample compared with other biochemical samples. The haematocrit is an additional variable not able to be measured. Also of importance is obtaining a balance between the sensitivity and specificity of each assay. Fixing cut-off points for action needs consideration of what is an acceptable percentage of the population to recall for further testing. Few assays are 100% discriminatory. Programs in Australasia currently screen for at least 30 disorders. Detection of these requires not only the assay of a primary marker but often determination of a ratio of that marker with another, or possibly an alternative assay, for example a DNA mutation. The most important disorders screened for are described briefly: phenylketonuria, primary congenital hypothyroidism, cystic fibrosis, the galactosaemias, medium-chain acyl-CoA dehydrogenase deficiency, glutaryl-CoA dehydrogenase deficiency and congenital adrenal hyperplasia, together with several other disorders detectable by tandem mass spectrometry. Newborn screening deals with rare disorders and benefit cannot be shown easily without very large pilot studies. There have been randomised controlled trials of screening for cystic fibrosis, and now several studies are beginning to establish the benefit of tandem mass spectrometry screening for disorders of fatty acid and amino acid metabolism. Two things will influence the new directions for newborn screening: the development of effective treatments for hitherto untreatable disorders, and advancing technology, enabling new testing strategies to be developed. There are novel treatments on the horizon for many discrete disorders. Susceptibility testing has recently been considered for newborn screening application, but is more controversial. Newborn screening has entered a new and exciting phase, with an explosion of new treatments, new technologies, and, possibly in the future, new preventive strategies.
            Article 0 comments Cited 45 times – based on 0 reviews     Review now
              Bookmark
              • Record: found
              • Abstract: found
              • Article: not found

              Population screening for genetic disorders in the 21st century: evidence, economics, and ethics.

              Mary Ross, M Khoury, Wolf Rogowski … (2009)
              Proposals for population screening for genetic diseases require careful scrutiny by decision makers because of the potential for harms and the need to demonstrate benefits commensurate with the opportunity cost of resources expended. We review current evidence-based processes used in the United States, the United Kingdom, and the Netherlands to assess genetic screening programs, including newborn screening programs, carrier screening, and organized cascade testing of relatives of patients with genetic syndromes. In particular, we address critical evidentiary, economic, and ethical issues that arise in the appraisal of screening tests offered to the population. Specific case studies include newborn screening for congenital adrenal hyperplasia and cystic fibrosis and adult screening for hereditary hemochromatosis. Organizations and countries often reach different conclusions about the suitability of screening tests for implementation on a population basis. Deciding when and how to introduce pilot screening programs is challenging. In certain cases, e.g., hereditary hemochromatosis, a consensus does not support general screening although cascade screening may be cost-effective. Genetic screening policies have often been determined by technological capability, advocacy, and medical opinion rather than through a rigorous evidence-based review process. Decision making should take into account principles of ethics and opportunity costs. Copyright 2009 S. Karger AG, Basel.
              Article 0 comments Cited 44 times – based on 0 reviews     Review now
                Bookmark
                All references

                Author and article information

                Journal
                Journal ID (nlm-ta): Int J Environ Res Public Health
                Journal ID (iso-abbrev): Int J Environ Res Public Health
                Journal ID (publisher-id): ijerph
                Title: International Journal of Environmental Research and Public Health
                Publisher: MDPI
                ISSN (Print): 1661-7827
                ISSN (Electronic): 1660-4601
                Publication date (Electronic): 19 May 2014
                Publication date (Print): May 2014
                Volume: 11
                Issue: 5
                Pages: 5403-5430
                Affiliations
                [1 ]Hamburg Center for Health Economics, Universität Hamburg, Esplanade 36, 20354 Hamburg, Germany
                [2 ]Helmholtz Zentrum München, German Research Center for Environmental Health, Institute of Health Economics and Health Care Management, Ingolstädter Landstr. 1, 85764 Neuherberg, Germany; E-Mail: rogowksi@ 123456helmholtz-muenchen.de
                [3 ]Institute and Outpatient Clinic for Occupational, Social and Environmental Medicine, Clinical Center, Ludwig Maximilians University, Ziemssenstr. 1, 80336 Munich, Germany
                Author notes
                [* ] Author to whom correspondence should be addressed; E-Mail: katharina.fischer@ 123456uni-hamburg.de ; Tel.: +49-40-428-389-296; Fax: +49-40-428-389-498.
                Article
                Publisher ID: ijerph-11-05403
                DOI: 10.3390/ijerph110505403
                PMC ID: 4053875
                PubMed ID: 24852389
                SO-VID: 0c134479-18f8-44b5-9cc8-6608b23197c8
                Copyright © © 2014 by the authors; licensee MDPI, Basel, Switzerland.
                License:

                This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license ( http://creativecommons.org/licenses/by/3.0/).

                History
                Date received : 15 January 2014
                Date revision received : 29 April 2014
                Date accepted : 09 May 2014
                Categories
                Subject: Article

                ScienceOpen disciplines: Public health
                Keywords: coverage,reimbursement,decision-making,internet survey,european union,tandem mass spectronomy
                Data availability:
                ScienceOpen disciplines: Public health
                Keywords: coverage, reimbursement, decision-making, internet survey, european union, tandem mass spectronomy

                Comments

                Comment on this article

                scite_

                Similar content177

                See all similar

                Cited by8

                See all cited by

                Most referenced authors767

                See all reference authors