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. 2017 Jun;6(2):61-76.
doi: 10.1055/s-0036-1593968. Epub 2016 Nov 28.

Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic

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Free PMC article

Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic

David Bick et al. J Pediatr Genet. .
Free PMC article

Abstract

A pilot program was initiated using whole genome sequencing (WGS) to diagnose suspected genetic disorders in the Genetics Clinic at Children's Hospital of Wisconsin. Twenty-two patients underwent WGS between 2010 and 2013. Initially, we obtained a 14% (3/22) diagnosis rate over 2 years; with subsequent reanalysis, this increased to 36% (8/22). Disease causing variants were identified in SKIV2L, CECR1, DGKE, PYCR2, RYR1, PDGFRB, EFTUD2, and BCS1L. In 75% (6/8) of diagnosed cases, the diagnosis affected treatment and/or medical surveillance. Additionally, one case demonstrated a homozygous A18V variant in VLDLR that appears to be associated with a previously undescribed phenotype.

Keywords: clinic; diagnosis; genome; sequencing.

Figures

Fig. 1
Fig. 1
Decision tree for 57 cases. The case review team evaluated 57 cases submitted for whole genome sequencing. The disposition of the cases is shown.
Fig. 2
Fig. 2
Choice of incidental findings. This Venn diagram summarizes the choice of incidental findings that each of the families selected.

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