The Genomic Consultation Service: A clinical service designed to improve patient selection for genome-wide sequencing in British Columbia

Molecular Genetics & Genomic Medicine
Alison M ElliottJan M Friedman

Abstract

Access to clinical diagnostic genome-wide sequencing (GWS; exome or whole genome sequencing) is limited in British Columbia. The establishment of a translational research initiative (CAUSES) to provide diagnostic genome-wide sequencing for 500 children necessitated the development of a genomic consultation service, a clinical service established to provide consultation for physicians considering GWS for their pediatric patients throughout British Columbia. The Genomic Consultation Service provides patient-specific genomic advice that may include: GWS, multi-gene panel, single gene test, referral to medical genetics for clinical evaluation, or no genetic testing. Here, we describe and evaluate this service. We analyzed referral patterns, patient demographics, clinical indications, and genomic advice provided during the first year of this service. Comparison of outcomes from the first 6 months versus the last 6 months was performed. A total of 407 referrals (238 males and 169 females [p = .0006]) were processed in the first year. Only children were eligible for referral and average patient age was 8 years. Medical genetics was the most frequent referring discipline, followed by biochemical disease and pediatric neurology, respect...Continue Reading

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Citations

Aug 30, 2019·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Nick DragojlovicLarry D Lynd
Sep 11, 2019·Cold Spring Harbor Perspectives in Medicine·Alison M Elliott
Jun 7, 2019·European Journal of Pediatrics·Alison M ElliottHoracio Osiovich
May 10, 2020·Molecular Genetics & Genomic Medicine·Emma C HitchcockAlison M Elliott
Apr 10, 2019·Journal of Genetic Counseling·Emma E SmithAlison M Elliott
Jan 21, 2021·Journal of Telemedicine and Telecare·Alison M ElliottJan M Friedman
Feb 13, 2021·BMJ Global Health·Kathryn A PhillipsDeborah A Marshall
Aug 11, 2021·Genome Medicine·Indhu-Shree Rajan-BabuJan M Friedman

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Methods Mentioned

BETA
exome sequencing

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