Literature DB >> 35859684

Genetic testing and screening in children.

Aideen M Moore1, Julie Richer1.   

Abstract

Genetic testing has progressed rapidly over the past two decades and is becoming common in paediatrics. This statement provides an overview of recent developments that may impact genetic testing in children. Genetics is a rapidly evolving field, and this statement focuses specifically on expanded newborn screening, next generation sequencing (NGS), incidental findings, direct-to-consumer testing, histocompatibility testing, and genetic testing in a research context. © Canadian Paediatric Society 2022. Published by Oxford University Press on behalf of the Canadian Paediatric Society. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Entities:  

Keywords:  Genetic screening; Genetic testing; Paediatrics

Year:  2022        PMID: 35859684      PMCID: PMC9291346          DOI: 10.1093/pch/pxac028

Source DB:  PubMed          Journal:  Paediatr Child Health        ISSN: 1205-7088            Impact factor:   2.600


  25 in total

1.  Genetic testing, legal capacity and adolescents.

Authors:  T Caulfield; B M Knoppers
Journal:  Health Law J       Date:  1998

2.  Pediatric research and the federal minimal risk standard.

Authors:  Lainie Friedman Ross; Robert M Nelson
Journal:  JAMA       Date:  2006-02-15       Impact factor: 56.272

Review 3.  Genomics in newborn screening.

Authors:  Yuval E Landau; Uta Lichter-Konecki; Harvey L Levy
Journal:  J Pediatr       Date:  2013-08-27       Impact factor: 4.406

Review 4.  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

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.  ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).

Authors:  David T Miller; Kristy Lee; Wendy K Chung; Adam S Gordon; Gail E Herman; Teri E Klein; Douglas R Stewart; Laura M Amendola; Kathy Adelman; Sherri J Bale; Michael H Gollob; Steven M Harrison; Ray E Hershberger; Kent McKelvey; C Sue Richards; Christopher N Vlangos; Michael S Watson; Christa Lese Martin
Journal:  Genet Med       Date:  2021-05-20       Impact factor: 8.822

7.  The clinical application of genome-wide sequencing for monogenic diseases in Canada: Position Statement of the Canadian College of Medical Geneticists.

Authors:  Kym Boycott; Taila Hartley; Shelin Adam; Francois Bernier; Karen Chong; Bridget A Fernandez; Jan M Friedman; Michael T Geraghty; Stacey Hume; Bartha M Knoppers; Anne-Marie Laberge; Jacek Majewski; Roberto Mendoza-Londono; M Stephen Meyn; Jacques L Michaud; Tanya N Nelson; Julie Richer; Bekim Sadikovic; David L Skidmore; Tracy Stockley; Sherry Taylor; Clara van Karnebeek; Ma'n H Zawati; Julie Lauzon; Christine M Armour
Journal:  J Med Genet       Date:  2015-05-07       Impact factor: 6.318

8.  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

Review 9.  Informed consent instead of assent is appropriate in children from the age of twelve: Policy implications of new findings on children's competence to consent to clinical research.

Authors:  Irma M Hein; Martine C De Vries; Pieter W Troost; Gerben Meynen; Johannes B Van Goudoever; Ramón J L Lindauer
Journal:  BMC Med Ethics       Date:  2015-11-09       Impact factor: 2.652

10.  Mastering genomic terminology.

Authors:  Gail P Jarvik; James P Evans
Journal:  Genet Med       Date:  2016-09-22       Impact factor: 8.822

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