Whole-exome sequencing in the clinic: Lessons from six consecutive cases from the clinician's perspective

Amber Volk, Erin Conboy, Beverly Wical, Marc Patterson, Salman Kirmani

Research output: Contribution to journalReview article

19 Scopus citations

Abstract

Whole-exome sequencing (WES) is being used clinically to diagnose rare Mendelian disorders, especially when standard tests have failed. The diagnostic yield from WES is reported to be ∼15-30%; however, data regarding the clinical utility and interpretative challenges from the clinician's perspective are lacking. Here, we present a series of the first 6 unselected consecutive cases seen over a period of 6 months where WES was employed in clinical labs via trio-based testing (proband and parents). While we do not discount the value of WES in the clinical setting, our cases and experience illustrate the significant clinical challenges of WES, even when a diagnosis may be achieved.

Original languageEnglish (US)
Pages (from-to)23-31
Number of pages9
JournalMolecular Syndromology
Volume6
Issue number1
DOIs
StatePublished - Mar 6 2015

Keywords

  • Diagnostic odyssey
  • Schinzel-Giedion syndrome
  • Whole-exome sequencing

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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