Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Hadley Stevens SmithHeidi V Russell

Abstract

Availability of clinical genomic sequencing (CGS) has generated questions about the value of genome and exome sequencing as a diagnostic tool. Analysis of reported CGS application can inform uptake and direct further research. This scoping literature review aims to synthesize evidence on the clinical and economic impact of CGS. PubMed, Embase, and Cochrane were searched for peer-reviewed articles published between 2009 and 2017 on diagnostic CGS for infant and pediatric patients. Articles were classified according to sample size and whether economic evaluation was a primary research objective. Data on patient characteristics, clinical setting, and outcomes were extracted and narratively synthesized. Of 171 included articles, 131 were case reports, 40 were aggregate analyses, and 4 had a primary economic evaluation aim. Diagnostic yield was the only consistently reported outcome. Median diagnostic yield in aggregate analyses was 33.2% but varied by broad clinical categories and test type. Reported CGS use has rapidly increased and spans diverse clinical settings and patient phenotypes. Economic evaluations support the cost-saving potential of diagnostic CGS. Multidisciplinary implementation research, including more robust outcom...Continue Reading

References

Oct 1, 1995·Accident and Emergency Nursing·A K Marsden
Aug 16, 2002·American Journal of Epidemiology·Wylie BurkeGeorgia L Wiesner
Oct 26, 2005·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Josh J CarlsonScott D Ramsey
Dec 13, 2007·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Muin J KhouryLinda Bradley
Jul 22, 2009·PLoS Medicine·David MoherUNKNOWN PRISMA Group
Oct 29, 2009·Proceedings of the National Academy of Sciences of the United States of America·Murim ChoiRichard P Lifton
Feb 2, 2010·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jeffrey R BotkinUNKNOWN EGAPP Working Group
Aug 20, 2010·Human Molecular Genetics·Jonathan RiosJonathan C Cohen
May 15, 2012·Journal of Medical Genetics·Anna C NeedDavid B Goldstein
Sep 19, 2012·American Journal of Medical Genetics. Part a·Carlos A BacinoPenelope E Bonnen
Jan 9, 2013·Pediatrics·Michael D KellerJordan S Orange
Jan 12, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Teri A ManolioGeoffrey S Ginsburg
Mar 30, 2013·Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research·Don HusereauUNKNOWN ISPOR Health Economic Evaluation Publication Guidelines-CHEERS Good Reporting Practices Task Force
Aug 10, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Vandana ShashiDavid G Goldstein
Aug 31, 2013·Pediatric Neurology·Radhika DhamijaLily C Wong-Kisiel
Sep 5, 2013·Genomics·Darrell L DinwiddieStephen F Kingsmore
Oct 4, 2013·The New England Journal of Medicine·Yaping YangChristine M Eng
Nov 16, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kathryn A PhillipsPeter Neumann
Nov 19, 2013·Pharmacogenomics·James BuchananAnna Schuh
Nov 28, 2013·Experimental Dermatology·Takuya TakeichiJohn A McGrath
Nov 28, 2013·Journal of Pediatric Gastroenterology and Nutrition·Michael YourshawMartín G Martín
Dec 19, 2013·Critical Care Medicine·Karl W Thomas
Apr 20, 2014·Journal of Medical Genetics·Emilia Balboa-BeltranFrancisco Barros
Apr 30, 2014·Epileptic Disorders : International Epilepsy Journal with Videotape·Tsukasa OhashiJun Tohyama
Jun 6, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Alejandro IglesiasWendy K Chung
Jun 29, 2014·Heart Rhythm : the Official Journal of the Heart Rhythm Society·James R PriestEuan A Ashley
Jul 25, 2014·JAMA : the Journal of the American Medical Association·Robert W TaylorPatrick F Chinnery
Aug 3, 2014·Neurology·Amy PizzinoAdeline Vanderver
Aug 12, 2014·Epilepsy & Behavior : E&B·Margie A Ream, Mohamad A Mikati
Aug 19, 2014·Annals of Neurology·Siddharth SrivastavaAli Fatemi
Sep 19, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Yuan XueMadhuri R Hegde
Sep 25, 2014·American Journal of Medical Genetics. Part a·Miriam S ReuterAndré Reis
Oct 19, 2014·JAMA : the Journal of the American Medical Association·Yaping YangChristine M Eng
Oct 19, 2014·JAMA : the Journal of the American Medical Association·Hane LeeStanley F Nelson
Oct 19, 2014·JAMA : the Journal of the American Medical Association·Jonathan S Berg
Oct 31, 2014·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kelly D FarwellSha Tang

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Citations

Sep 15, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Ranad ShaheenFowzan S Alkuraya
May 3, 2019·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·Ashima GulatiAlda Tufro
Jul 18, 2019·Personalized Medicine·Joon-Ho YuUNKNOWN Clinical Sequencing Exploratory Research (CSER) Consortium Informed Consent and Governance Working Group
Aug 30, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Nick DragojlovicLarry D Lynd
Nov 7, 2019·Current Pharmaceutical Design·Huilei ZhengXiaoling Qiu
Dec 6, 2019·European Journal of Human Genetics : EJHG·Esha JoshiYvonne Bombard
May 6, 2020·American Journal of Medical Genetics. Part a·Rika KosakiKenjiro Kosaki
Feb 7, 2020·Clinical and Experimental Pediatrics·Ji Yoon Han, In Goo Lee
Mar 9, 2019·Intensive Care Medicine·Courtney E FrenchF Lucy Raymond
Mar 24, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jennifer MalinowskiUNKNOWN ACMG Professional Practice and Guidelines Committee
Nov 23, 2019·Nature Communications·Denise AndersonTimo Lassmann
Apr 28, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hadley Stevens SmithBrendan H Lee
Aug 11, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Alison YeungSusan M White
Jul 6, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hadley Stevens SmithUNKNOWN and the Value of Exome Sequencing Delphi Panel
Mar 30, 2020·Pediatric Research·Abigail S CareySteven G Kernie
Dec 16, 2020·NPJ Genomic Medicine·Robin Z HayeemsUNKNOWN Medical Genome Initiative
Nov 16, 2020·European Journal of Medical Genetics·Brittany N SimpsonRobert J Hopkin
Jan 22, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Hadley Stevens SmithHaley Streff
Mar 4, 2021·FEBS Letters·Mirjana Gusic, Holger Prokisch
Apr 4, 2021·International Journal of Molecular Sciences·Ana Ching-LópezPurificacion Gutierrez-Ríos
May 13, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Deanna G BrockmanMiriam S Udler
Jun 1, 2021·Prenatal Diagnosis·Kate SwansonMary E Norton
Jun 3, 2021·European Journal of Human Genetics : EJHG·Birte ZurekUNKNOWN Solve-RD consortium
Jun 18, 2021·Archives of Disease in Childhood·Dan DaiLiling Qian
Jun 29, 2021·Frontiers in Neurology·Susan HarveyKathleen M Gorman
Jun 16, 2021·American Journal of Human Genetics·He LiRichard A Gibbs
Jan 29, 2019·The Journal of Pediatrics·Tellen D BennettMichael G Kahn
Jul 3, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kandamurugu ManickamUNKNOWN ACMG Board of Directors
Nov 21, 2021·Molecular Psychiatry·Anna AlkelaiDavid B Goldstein
Feb 28, 2020·Pediatrics·Sawona BiswasIan D Krantz

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Methods Mentioned

BETA
exome sequencing

Software Mentioned

Clarivate Analytics
EndNote
Stata IC
Rayyan

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