Literature DB >> 27848945

International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documents.

Marleen E Jansen1,2, Selina C Metternick-Jones3, Karla J Lister3.   

Abstract

Despite international adoption of newborn bloodspot screening (DBS), no two countries' screening programs are the same. This article aims to understand what factors influence DBS decision-making criteria and how conditions are assessed against them. In doing so, it offers unique insights into the international landscape of DBS. A systematic review on DBS criteria in scientific literature was first undertaken. Through this, five topics were identified for consideration when analyzing DBS decision-making. Using these five topics as a template, a side-by-side comparison was conducted on DBS in policy documents of eight countries. Programs are using different approaches to explore the same policy issues, including: the beneficiary of DBS, definition of criteria, the way conditions are assessed, level of evidence required, and recommendations after assessment. These differences have the potential to result in increased disparity across DBS internationally. Ultimately, governments need to decide on their role and develop an approach to DBS decision-making in line with this role. The analyses presented in this article highlight that despite programs' commonalities, no one 'DBS decision-making solution' exists. Understanding the different approaches to decision-making within the literature and policy settings, provides an objective starting point for structured decision-making approaches for DBS programs.

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Year:  2016        PMID: 27848945      PMCID: PMC5159762          DOI: 10.1038/ejhg.2016.126

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN: 1018-4813            Impact factor:   4.246


  47 in total

Review 1.  U.S. newborn screening policy dilemmas for the twenty-first century.

Authors:  B L Therrell
Journal:  Mol Genet Metab       Date:  2001 Sep-Oct       Impact factor: 4.797

Review 2.  Ethical issues in genetic testing of children.

Authors:  L F Ross; M R Moon
Journal:  Arch Pediatr Adolesc Med       Date:  2000-09

3.  Public views on participating in newborn screening using genome sequencing.

Authors:  Yvonne Bombard; Fiona A Miller; Robin Z Hayeems; Carolyn Barg; Celine Cressman; June C Carroll; Brenda J Wilson; Julian Little; Denise Avard; Michael Painter-Main; Judith Allanson; Yves Giguere; Pranesh Chakraborty
Journal:  Eur J Hum Genet       Date:  2014-02-19       Impact factor: 4.246

4.  Newborn screening technology: proceed with caution.

Authors:  Jeffrey R Botkin; Ellen Wright Clayton; Norman C Fost; Wylie Burke; Thomas H Murray; Mary Ann Baily; Benjamin Wilfond; Alfred Berg; Lainie Friedman Ross
Journal:  Pediatrics       Date:  2006-05       Impact factor: 7.124

5.  Revisiting Wilson and Jungner in the genomic age: a review of screening criteria over the past 40 years.

Authors:  Anne Andermann; Ingeborg Blancquaert; Sylvie Beauchamp; Véronique Déry
Journal:  Bull World Health Organ       Date:  2008-04       Impact factor: 9.408

Review 6.  Reconsidering reproductive benefit through newborn screening: a systematic review of guidelines on preconception, prenatal and newborn screening.

Authors:  Yvonne Bombard; Fiona A Miller; Robin Z Hayeems; Denise Avard; Bartha M Knoppers
Journal:  Eur J Hum Genet       Date:  2010-03-03       Impact factor: 4.246

Review 7.  Expanding newborn screening for lysosomal disorders: opportunities and challenges.

Authors:  Darrel J Waggoner; Christopher A Tan
Journal:  Dev Disabil Res Rev       Date:  2011

8.  Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany.

Authors:  Martin Lindner; Gwendolyn Gramer; Gisela Haege; Junmin Fang-Hoffmann; Karl O Schwab; Uta Tacke; Friedrich K Trefz; Eugen Mengel; Udo Wendel; Michael Leichsenring; Peter Burgard; Georg F Hoffmann
Journal:  Orphanet J Rare Dis       Date:  2011-06-20       Impact factor: 4.123

9.  A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document.

Authors:  Martina C Cornel; Tessel Rigter; Stephanie S Weinreich; Peter Burgard; Georg F Hoffmann; Martin Lindner; J Gerard Loeber; Kathrin Rupp; Domenica Taruscio; Luciano Vittozzi
Journal:  Eur J Hum Genet       Date:  2013-05-08       Impact factor: 4.246

10.  Whole-genome sequencing in newborn screening? A statement on the continued importance of targeted approaches in newborn screening programmes.

Authors:  Heidi Carmen Howard; Bartha Maria Knoppers; Martina C Cornel; Ellen Wright Clayton; Karine Sénécal; Pascal Borry
Journal:  Eur J Hum Genet       Date:  2015-01-28       Impact factor: 4.246

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  13 in total

1.  UK National Screening Committee Criteria: clarification of two misunderstandings.

Authors:  Anne Mackie
Journal:  Eur J Hum Genet       Date:  2017-04-26       Impact factor: 4.246

Review 2.  Are lower TSH cutoffs in neonatal screening for congenital hypothyroidism warranted?

Authors:  Samantha Lain; Caroline Trumpff; Scott D Grosse; Antonella Olivieri; Guy Van Vliet
Journal:  Eur J Endocrinol       Date:  2017-07-10       Impact factor: 6.664

3.  Exome/Genome-Wide Testing in Newborn Screening: A Proportionate Path Forward.

Authors:  Vasiliki Rahimzadeh; Jan M Friedman; Guido de Wert; Bartha M Knoppers
Journal:  Front Genet       Date:  2022-07-04       Impact factor: 4.772

4.  The case for screening in early life for 'non-treatable' disorders: ethics, evidence and proportionality. A report from the Health Council of the Netherlands.

Authors:  Shona Kalkman; Wybo Dondorp
Journal:  Eur J Hum Genet       Date:  2022-02-07       Impact factor: 5.351

5.  An Age-Based Framework for Evaluating Genome-Scale Sequencing Results in Newborn Screening.

Authors:  Laura V Milko; Julianne M O'Daniel; Daniela M DeCristo; Stephanie B Crowley; Ann Katherine M Foreman; Kathleen E Wallace; Lonna F Mollison; Natasha T Strande; Zahra S Girnary; Lacey J Boshe; Arthur S Aylsworth; Muge Gucsavas-Calikoglu; Dianne M Frazier; Neeta L Vora; Myra I Roche; Bradford C Powell; Cynthia M Powell; Jonathan S Berg
Journal:  J Pediatr       Date:  2019-03-07       Impact factor: 4.406

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

Authors:  Caron M Molster; Karla Lister; Selina Metternick-Jones; Gareth Baynam; Angus John Clarke; Volker Straub; Hugh J S Dawkins; Nigel Laing
Journal:  Front Public Health       Date:  2017-02-24

Review 7.  Policy Making in Newborn Screening Needs a Structured and Transparent Approach.

Authors:  Marleen E Jansen; Karla J Lister; Henk J van Kranen; Martina C Cornel
Journal:  Front Public Health       Date:  2017-03-21

Review 8.  Global birth prevalence and mortality from inborn errors of metabolism: a systematic analysis of the evidence.

Authors:  Donald Waters; Davies Adeloye; Daisy Woolham; Elizabeth Wastnedge; Smruti Patel; Igor Rudan
Journal:  J Glob Health       Date:  2018-12       Impact factor: 4.413

9.  Parental perspectives on retention and secondary use of neonatal dried bloodspots: a Dutch mixed methods study.

Authors:  Marleen E Jansen; Lion J M van den Bosch; Marjolein J Hendriks; Mariska M J Scheffer; Marie-Louise Heijnen; Conor M W Douglas; Carla G van El
Journal:  BMC Pediatr       Date:  2019-07-09       Impact factor: 2.125

10.  Early Check: translational science at the intersection of public health and newborn screening.

Authors:  Donald B Bailey; Lisa M Gehtland; Megan A Lewis; Holly Peay; Melissa Raspa; Scott M Shone; Jennifer L Taylor; Anne C Wheeler; Michael Cotten; Nancy M P King; Cynthia M Powell; Barbara Biesecker; Christine E Bishop; Beth Lincoln Boyea; Martin Duparc; Blake A Harper; Alex R Kemper; Stacey N Lee; Rebecca Moultrie; Katherine C Okoniewski; Ryan S Paquin; Denise Pettit; Katherine Ackerman Porter; Scott J Zimmerman
Journal:  BMC Pediatr       Date:  2019-07-17       Impact factor: 2.125

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