Clinical genome sequencing in an unbiased pediatric cohort.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Isabelle ThiffaultCarol Saunders

Abstract

We report for the first time, the use of clinical genome sequencing (GS) in an unbiased pediatric cohort. We describe the clinical validation, patient metrics, ordering patterns, results, reimbursement, and physician retrieval of results for the first consecutive 80 cases. Clinical GS was performed for both inpatients and outpatients undergoing etiologic evaluations. Results were reported in the electronic medical record. Evidence of report retrieval by clinicians and whether interpretation was concordant with laboratory report was obtained through retrospective chart review. Twenty definitive diagnoses were made in 19 patients (24%; n = 80). Except for two partial gene deletions, all diagnostic variants would have been detectable by our exome methods. Surprisingly, there was no documentation of communication of results to the family in the medical record for 17.5% of patients, and in 7.5%, physician and laboratory interpretations were discordant. Average insurance reimbursement was 30.2%, with yield for commercial payers significantly higher, at 54.1%. The detection rate of GS is equivalent and potentially superior to exome sequencing (ES). Reimbursement rates were variable but overall satisfactory for commercial insurers, and...Continue Reading

References

Oct 5, 2012·Science Translational Medicine·Carol Jean SaundersStephen Francis Kingsmore
Jun 22, 2013·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Robert C GreenUNKNOWN American College of Medical Genetics and Genomics
Oct 4, 2013·The New England Journal of Medicine·Yaping YangChristine M Eng
Oct 19, 2014·JAMA : the Journal of the American Medical Association·Hane LeeStanley F Nelson
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
Dec 3, 2016·Nucleic Acids Research·Sebastian KöhlerPeter N Robinson
Aug 5, 2017·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Anath C LionelChristian R Marshall
Aug 16, 2017·European Journal of Medical Genetics·Aurélie BourchanyLaurence Faivre
Dec 24, 2017·American Journal of Medical Genetics. Part a·Atif A AhmedCarol Saunders
Feb 18, 2018·European Journal of Human Genetics : EJHG·Gregory CostainChristian R Marshall

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Citations

Aug 14, 2019·Current Opinion in Pediatrics·Matthew B NeuGregory M Cooper
Aug 19, 2020·American Journal of Medical Genetics. Part a·Marta Pacio MiguezMaría Palomares-Bralo
Aug 1, 2020·Frontiers in Pediatrics·Emilie LalondeNancy B Spinner
Nov 7, 2019·Current Opinion in Pediatrics·Matthew B NeuGregory M Cooper
Mar 24, 2020·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jennifer MalinowskiUNKNOWN ACMG Professional Practice and Guidelines Committee
Mar 9, 2019·Intensive Care Medicine·Courtney E FrenchF Lucy Raymond
May 3, 2020·Cold Spring Harbor Molecular Case Studies·Isabelle ThiffaultCarol Saunders
Jan 31, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Cassie S MintzUNKNOWN ACMG Professional Practice and Guidelines Committee
May 13, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Deanna G BrockmanMiriam S Udler
Jun 29, 2021·Frontiers in Neurology·Susan HarveyKathleen M Gorman
Sep 5, 2021·Clinical Genetics·Sonal SharmaJean-Baptiste LePichon
Jul 3, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Kandamurugu ManickamUNKNOWN ACMG Board of Directors

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Methods Mentioned

BETA
exome sequencing
chip

Software Mentioned

TapeStation
DRAGEN
SSAGA
VIKING
Fragment Analyzer
Phenomizer
Genome Analysis Toolkit
GS
Burrows Aligner
Rapid Understanding of Nucleotide variant Effect Software ( RUNES

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