Literature DB >> 27134803

Whole Genome Sequencing and Newborn Screening.

Jeffrey R Botkin1, Erin Rothwell2.   

Abstract

Clinical applications of next generation sequencing are growing at a tremendous pace. Currently the largest application of genetic testing in medicine occurs with newborn screening through state-mandated public health programs, and there are suggestions that sequencing could become a standard component of newborn care within the next decade. As such, newborn screening may appear to be a logical starting point to explore whole genome and whole exome sequencing on a population level. Yet, there are a number of ethical, social and legal implications about the use of a mandatory public health screening program that create challenges for the use of sequencing technologies in this context. Additionally, at this time we still have limited understanding and strategies for managing genomic data, supporting our conclusion that genome sequencing is not justified within population based public health programs for newborn screening.

Entities:  

Keywords:  Newborn screening; ethics; next generation sequencing; population screening; public health; whole genome sequencing

Year:  2016        PMID: 27134803      PMCID: PMC4847737          DOI: 10.1007/s40142-016-0084-3

Source DB:  PubMed          Journal:  Curr Genet Med Rep        ISSN: 2167-4876


  15 in total

1.  Serving the family from birth to the medical home. Newborn screening: a blueprint for the future - a call for a national agenda on state newborn screening programs

Authors: 
Journal:  Pediatrics       Date:  2000-08       Impact factor: 7.124

2.  Completeness and complexity of information available to parents from newborn-screening programs.

Authors:  Kathryn E Fant; Sarah J Clark; Alex R Kemper
Journal:  Pediatrics       Date:  2005-05       Impact factor: 7.124

3.  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

4.  Medicine. Newborn screening: gaps in the evidence.

Authors:  Bridget Wilcken
Journal:  Science       Date:  2013-10-11       Impact factor: 47.728

Review 5.  Exome sequencing as a tool for Mendelian disease gene discovery.

Authors:  Michael J Bamshad; Sarah B Ng; Abigail W Bigham; Holly K Tabor; Mary J Emond; Deborah A Nickerson; Jay Shendure
Journal:  Nat Rev Genet       Date:  2011-09-27       Impact factor: 53.242

Review 6.  Points to Consider: Ethical, Legal, and Psychosocial Implications of Genetic Testing in Children and Adolescents.

Authors:  Jeffrey R Botkin; John W Belmont; Jonathan S Berg; Benjamin E Berkman; Yvonne Bombard; Ingrid A Holm; Howard P Levy; Kelly E Ormond; Howard M Saal; Nancy B Spinner; Benjamin S Wilfond; Joseph D McInerney
Journal:  Am J Hum Genet       Date:  2015-07-02       Impact factor: 11.025

7.  Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders.

Authors:  Sarah E Soden; Carol J Saunders; Laurel K Willig; Emily G Farrow; Laurie D Smith; Josh E Petrikin; Jean-Baptiste LePichon; Neil A Miller; Isabelle Thiffault; Darrell L Dinwiddie; Greyson Twist; Aaron Noll; Bryce A Heese; Lee Zellmer; Andrea M Atherton; Ahmed T Abdelmoity; Nicole Safina; Sarah S Nyp; Britton Zuccarelli; Ingrid A Larson; Ann Modrcin; Suzanne Herd; Mitchell Creed; Zhaohui Ye; Xuan Yuan; Robert A Brodsky; Stephen F Kingsmore
Journal:  Sci Transl Med       Date:  2014-12-03       Impact factor: 17.956

8.  Ethical and policy issues in genetic testing and screening of children.

Authors: 
Journal:  Pediatrics       Date:  2013-02-21       Impact factor: 7.124

9.  Impact of false-positive newborn metabolic screening results on early health care utilization.

Authors:  Ellen A Lipstein; James M Perrin; Susan E Waisbren; Lisa A Prosser
Journal:  Genet Med       Date:  2009-10       Impact factor: 8.822

10.  Non-invasive prenatal testing for aneuploidy and beyond: challenges of responsible innovation in prenatal screening.

Authors:  Wybo Dondorp; Guido de Wert; Yvonne Bombard; Diana W Bianchi; Carsten Bergmann; Pascal Borry; Lyn S Chitty; Florence Fellmann; Francesca Forzano; Alison Hall; Lidewij Henneman; Heidi C Howard; Anneke Lucassen; Kelly Ormond; Borut Peterlin; Dragica Radojkovic; Wolf Rogowski; Maria Soller; Aad Tibben; Lisbeth Tranebjærg; Carla G van El; Martina C Cornel
Journal:  Eur J Hum Genet       Date:  2015-03-18       Impact factor: 4.246

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  11 in total

Review 1.  Evolving health care through personal genomics.

Authors:  Heidi L Rehm
Journal:  Nat Rev Genet       Date:  2017-01-31       Impact factor: 53.242

2.  Developing a National Newborn Genomes Program: An Approach Driven by Ethics, Engagement and Co-design.

Authors:  Amanda Pichini; Arzoo Ahmed; Christine Patch; David Bick; Mathilde Leblond; Dalia Kasperaviciute; Dasha Deen; Simon Wilde; Sofia Garcia Noriega; Christella Matoko; Alice Tuff-Lacey; Chris Wigley; Richard H Scott
Journal:  Front Genet       Date:  2022-05-30       Impact factor: 4.772

Review 3.  The promise of public health ethics for precision medicine: the case of newborn preventive genomic sequencing.

Authors:  Ainsley J Newson
Journal:  Hum Genet       Date:  2021-03-14       Impact factor: 4.132

4.  Whole-Genome Sequencing in Newborn Screening-Attitudes and Opinions of Bulgarian Pediatricians and Geneticists.

Authors:  Georgi Iskrov; Stefan Ivanov; Stephen Wrenn; Rumen Stefanov
Journal:  Front Public Health       Date:  2017-11-20

5.  Genomic newborn screening: public health policy considerations and recommendations.

Authors:  Jan M Friedman; Martina C Cornel; Aaron J Goldenberg; Karla J Lister; Karine Sénécal; Danya F Vears
Journal:  BMC Med Genomics       Date:  2017-02-21       Impact factor: 3.063

6.  Newborn genetic screening for spinal muscular atrophy in the UK: The views of the general population.

Authors:  Felicity K Boardman; Chloe Sadler; Philip J Young
Journal:  Mol Genet Genomic Med       Date:  2017-11-23       Impact factor: 2.183

7.  Targeted next generation sequencing for newborn screening of Menkes disease.

Authors:  Richard B Parad; Stephen G Kaler; Evan Mauceli; Tanya Sokolsky; Ling Yi; Arindam Bhattacharjee
Journal:  Mol Genet Metab Rep       Date:  2020-07-21

Review 8.  Insights into National Laboratory Newborn Screening and Future Prospects.

Authors:  Ahmed H Mujamammi
Journal:  Medicina (Kaunas)       Date:  2022-02-11       Impact factor: 2.948

9.  A next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.

Authors:  F Boemer; C Fasquelle; S d'Otreppe; C Josse; V Dideberg; K Segers; V Guissard; V Capraro; F G Debray; V Bours
Journal:  Sci Rep       Date:  2017-12-15       Impact factor: 4.379

10.  Newborn screening for spinal muscular atrophy: The views of affected families and adults.

Authors:  Felicity K Boardman; Philip J Young; Frances E Griffiths
Journal:  Am J Med Genet A       Date:  2017-04-04       Impact factor: 2.802

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