Literature DB >> 27338599

Screening of Newborns for Disorders with High Benefit-Risk Ratios Should Be Mandatory.

Nicole Kelly1, Dalia Chehayeb Makarem1, Melissa P Wasserstein1.   

Abstract

Newborn screening has evolved to include an increasingly complex spectrum of diseases, raising concerns that screening should be optional and require parental consent. Early detection of disorders like PKU and MCAD is essential to prevent serious disability and death in affected children. These are examples of high benefit-risk ratio disorders because of the irrefutable health benefits of early detection, coupled with the low risks of treatment. The dire consequences of not diagnosing an infant with a treatable disorder because of parental refusal to screen are wholly unacceptable. Thus, we believe that newborn screening for disorders with high benefit-risk ratios should continue to be mandatory.
© 2016 American Society of Law, Medicine & Ethics.

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Year:  2016        PMID: 27338599      PMCID: PMC5381153          DOI: 10.1177/1073110516654133

Source DB:  PubMed          Journal:  J Law Med Ethics        ISSN: 1073-1105            Impact factor:   1.718


  21 in total

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Journal:  Clin Biochem Rev       Date:  2010-05

2.  Pilot programs in newborn screening.

Authors:  Kenneth Pass; Nancy S Green; Fred Lorey; John Sherwin; Anne Marie Comeau
Journal:  Ment Retard Dev Disabil Res Rev       Date:  2006

3.  Status of newborn screening programs in the United States.

Authors:  Bradford L Therrell; Alissa Johnson; Donna Williams
Journal:  Pediatrics       Date:  2006-05       Impact factor: 7.124

4.  From public health emergency to public health service: the implications of evolving criteria for newborn screening panels.

Authors:  Scott D Grosse; Coleen A Boyle; Aileen Kenneson; Muin J Khoury; Benjamin S Wilfond
Journal:  Pediatrics       Date:  2006-03       Impact factor: 7.124

5.  Questioning the Need for Informed Consent: A Case Study of California's Experience with a Pilot Newborn Screening Research Project.

Authors:  Lisa Feuchtbaum; George Cunningham; Stan Sciortino
Journal:  J Empir Res Hum Res Ethics       Date:  2007-09       Impact factor: 1.742

6.  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

7.  Recommendations for effective newborn screening communication: results of focus groups with parents, providers, and experts.

Authors:  Terry C Davis; Sharon G Humiston; Connie L Arnold; Joseph A Bocchini; Pat F Bass; Estela M Kennen; Anna Bocchini; Penny Kyler; Michele Lloyd-Puryear
Journal:  Pediatrics       Date:  2006-05       Impact factor: 7.124

8.  Patients-in-waiting: Living between sickness and health in the genomics era.

Authors:  Stefan Timmermans; Mara Buchbinder
Journal:  J Health Soc Behav       Date:  2010-12

9.  Mandatory versus voluntary consent for newborn screening?

Authors:  Lainie Friedman Ross
Journal:  Kennedy Inst Ethics J       Date:  2010-12

Review 10.  Adverse medical outcomes of early newborn screening programs for phenylketonuria.

Authors:  Jeffrey P Brosco; Lee M Sanders; Michael I Seider; Angela C Dunn
Journal:  Pediatrics       Date:  2008-07       Impact factor: 7.124

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  11 in total

Review 1.  Ethical issues in pediatric genetic testing and screening.

Authors:  Jeffrey R Botkin
Journal:  Curr Opin Pediatr       Date:  2016-12       Impact factor: 2.856

Review 2.  The influence of environment and origin on brain resident macrophages and implications for therapy.

Authors:  Mariko L Bennett; F Chris Bennett
Journal:  Nat Neurosci       Date:  2019-12-02       Impact factor: 24.884

3.  An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia.

Authors:  E Morris; M O'Donovan; A Virani; J Austin
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Review 4.  Target Diseases for Neonatal Screening in Germany.

Authors:  Ute Spiekerkoetter; Heiko Krude
Journal:  Dtsch Arztebl Int       Date:  2022-04-29       Impact factor: 8.251

5.  Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.

Authors:  Reza Alibakhshi; Aboozar Mohammadi; Nader Salari; Sahand Khamooshian; Mohsen Kazeminia; Keivan Moradi
Journal:  Metab Brain Dis       Date:  2021-02-24       Impact factor: 3.584

6.  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

7.  Analytical Validation of Familial Hypercholesterolemia Biomarkers in Dried Blood Spots.

Authors:  Patrice K Held; Kristin Campbell; Amy E Wiberley-Bradford; Michael Lasarev; Vanessa Horner; Amy Peterson
Journal:  Int J Neonatal Screen       Date:  2022-02-09

8.  Second-Tier Next Generation Sequencing Integrated in Nationwide Newborn Screening Provides Rapid Molecular Diagnostics of Severe Combined Immunodeficiency.

Authors:  Janne Strand; Kiran Aftab Gul; Hans Christian Erichsen; Emma Lundman; Mona C Berge; Anette K Trømborg; Linda K Sørgjerd; Mari Ytre-Arne; Silje Hogner; Ruth Halsne; Hege Junita Gaup; Liv T Osnes; Grete A B Kro; Hanne S Sorte; Lars Mørkrid; Alexander D Rowe; Trine Tangeraas; Jens V Jørgensen; Charlotte Alme; Trude E H Bjørndalen; Arild E Rønnestad; Astri M Lang; Terje Rootwelt; Jochen Buechner; Torstein Øverland; Tore G Abrahamsen; Rolf D Pettersen; Asbjørg Stray-Pedersen
Journal:  Front Immunol       Date:  2020-07-09       Impact factor: 7.561

9.  Predominance of the c.648G > T G6PC gene mutation and late complications in Korean patients with glycogen storage disease type Ia.

Authors:  Yoo-Mi Kim; Jin-Ho Choi; Beom-Hee Lee; Gu-Hwan Kim; Kyung-Mo Kim; Han-Wook Yoo
Journal:  Orphanet J Rare Dis       Date:  2020-02-11       Impact factor: 4.123

10.  Cord blood metabolic signatures predictive of childhood overweight and rapid growth.

Authors:  Evangelos Handakas; Pekka Keski-Rahkonen; Lida Chatzi; Rossella Alfano; Theano Roumeliotaki; Michelle Plusquin; Léa Maitre; Lorenzo Richiardi; Sonia Brescianini; Augustin Scalbert; Nivonirina Robinot; Tim Nawrot; Franco Sassi; Martine Vrijheid; Paolo Vineis; Oliver Robinson
Journal:  Int J Obes (Lond)       Date:  2021-07-12       Impact factor: 5.095

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