Literature DB >> 23875800

Growing up in the genomic era: implications of whole-genome sequencing for children, families, and pediatric practice.

Christopher H Wade1, Beth A Tarini, Benjamin S Wilfond.   

Abstract

Whole-genome sequencing (WGS) has advanced to a point where it is beginning to be integrated into pediatric practice. With little consensus on how to maximize the benefits of WGS for children, there is a growing need for focused efforts that connect researchers, clinicians, and families to chart a path forward. To illustrate relevant concerns, two contrasting applications of pediatric WGS are explored: clinical use with children who have undiagnosed conditions, and population-based screening. Specific challenges for health care services, policy development, and the well-being of children are discussed in light of current research. In the interest of ensuring evidence-based pediatric WGS, strategies are identified for advancing our understanding of what it means for children to grow up with WGS results guiding their health care.

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Mesh:

Year:  2013        PMID: 23875800      PMCID: PMC4159555          DOI: 10.1146/annurev-genom-091212-153425

Source DB:  PubMed          Journal:  Annu Rev Genomics Hum Genet        ISSN: 1527-8204            Impact factor:   8.929


  91 in total

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Authors:  Radoje Drmanac
Journal:  Science       Date:  2012-06-01       Impact factor: 47.728

2.  The prospect of genome-guided preventive medicine: a need and opportunity for genetic counselors.

Authors:  Julianne M O'Daniel
Journal:  J Genet Couns       Date:  2010-05-04       Impact factor: 2.537

3.  Uncertainty and perceived personal control among parents of children with rare chromosome conditions: the role of genetic counseling.

Authors:  Shawn E Lipinski; Michael J Lipinski; Leslie G Biesecker; Barbara B Biesecker
Journal:  Am J Med Genet C Semin Med Genet       Date:  2006-11-15       Impact factor: 3.908

4.  The genetic testing of children.

Authors:  T M Marteau
Journal:  J Med Genet       Date:  1994-10       Impact factor: 6.318

5.  Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

Authors:  Carol Jean Saunders; Neil Andrew Miller; Sarah Elizabeth Soden; Darrell Lee Dinwiddie; Aaron Noll; Noor Abu Alnadi; Nevene Andraws; Melanie LeAnn Patterson; Lisa Ann Krivohlavek; Joel Fellis; Sean Humphray; Peter Saffrey; Zoya Kingsbury; Jacqueline Claire Weir; Jason Betley; Russell James Grocock; Elliott Harrison Margulies; Emily Gwendolyn Farrow; Michael Artman; Nicole Pauline Safina; Joshua Erin Petrikin; Kevin Peter Hall; Stephen Francis Kingsmore
Journal:  Sci Transl Med       Date:  2012-10-03       Impact factor: 17.956

6.  Primary care providers' willingness to recommend BRCA1/2 testing to adolescents.

Authors:  Suzanne C O'Neill; Beth N Peshkin; George Luta; Anisha Abraham; Leslie R Walker; Kenneth P Tercyak
Journal:  Fam Cancer       Date:  2009-04-24       Impact factor: 2.375

7.  Sisters in hereditary breast and ovarian cancer families: communal coping, social integration, and psychological well-being.

Authors:  Laura M Koehly; June A Peters; Natalia Kuhn; Lindsey Hoskins; Anne Letocha; Regina Kenen; Jennifer Loud; Mark H Greene
Journal:  Psychooncology       Date:  2008-08       Impact factor: 3.894

8.  Predictive genetic testing of children for adult-onset diseases and psychological harm.

Authors:  P J Malpas
Journal:  J Med Ethics       Date:  2008-04       Impact factor: 2.903

9.  Incidental medical information in whole-exome sequencing.

Authors:  Benjamin D Solomon; Donald W Hadley; Daniel E Pineda-Alvarez; Aparna Kamat; Jamie K Teer; Praveen F Cherukuri; Nancy F Hansen; Pedro Cruz; Alice C Young; Benjamin E Berkman; Settara C Chandrasekharappa; James C Mullikin
Journal:  Pediatrics       Date:  2012-05-14       Impact factor: 7.124

10.  Taxonomizing, sizing, and overcoming the incidentalome.

Authors:  Isaac S Kohane; Michael Hsing; Sek Won Kong
Journal:  Genet Med       Date:  2012-02-09       Impact factor: 8.822

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  20 in total

1.  Next generation sequencing for newborn screening: are we there yet?

Authors:  Eitan Friedman
Journal:  Genet Res (Camb)       Date:  2015-09-22       Impact factor: 1.588

2.  Challenges of using next generation sequencing in newborn screening.

Authors:  Eyal Reinstein
Journal:  Genet Res (Camb)       Date:  2015-11-02       Impact factor: 1.588

Review 3.  Return of genetic testing results in the era of whole-genome sequencing.

Authors:  Bartha Maria Knoppers; Ma'n H Zawati; Karine Sénécal
Journal:  Nat Rev Genet       Date:  2015-08-04       Impact factor: 53.242

4.  Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray.

Authors:  Robin Z Hayeems; Jasmin Bhawra; Kate Tsiplova; M Stephen Meyn; Nasim Monfared; Sarah Bowdin; D James Stavropoulos; Christian R Marshall; Raveen Basran; Cheryl Shuman; Shinya Ito; Iris Cohn; Courtney Hum; Marta Girdea; Michael Brudno; Ronald D Cohn; Stephen W Scherer; Wendy J Ungar
Journal:  Eur J Hum Genet       Date:  2017-11-20       Impact factor: 4.246

5.  Professionally Responsible Disclosure of Genomic Sequencing Results in Pediatric Practice.

Authors:  Laurence B McCullough; Kyle B Brothers; Wendy K Chung; Steven Joffe; Barbara A Koenig; Benjamin Wilfond; Joon-Ho Yu
Journal:  Pediatrics       Date:  2015-09-14       Impact factor: 7.124

6.  Experiences with obtaining informed consent for genomic sequencing.

Authors:  Barbara A Bernhardt; Myra I Roche; Denise L Perry; Sarah R Scollon; Ashley N Tomlinson; Debra Skinner
Journal:  Am J Med Genet A       Date:  2015-07-21       Impact factor: 2.802

7.  "Not Tied Up Neatly with a Bow": Professionals' Challenging Cases in Informed Consent for Genomic Sequencing.

Authors:  Ashley N Tomlinson; Debra Skinner; Denise L Perry; Sarah R Scollon; Myra I Roche; Barbara A Bernhardt
Journal:  J Genet Couns       Date:  2015-04-26       Impact factor: 2.537

8.  Disparities in current and future childhood and newborn carrier identification.

Authors:  Melissa Noke; Alison Wearden; Sarah Peters; Fiona Ulph
Journal:  J Genet Couns       Date:  2014-07-11       Impact factor: 2.537

9.  Parents' experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns.

Authors:  Nicola Kerruish
Journal:  Genet Med       Date:  2015-06-11       Impact factor: 8.822

10.  To disclose, or not to disclose? Context matters.

Authors:  Vasiliki Rahimzadeh; Denise Avard; Karine Sénécal; Bartha Maria Knoppers; Daniel Sinnett
Journal:  Eur J Hum Genet       Date:  2014-06-11       Impact factor: 4.246

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