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

Authors

Amber Volk, Mayo Clinic, United States
Erin Conboy, Mayo Clinic, United States
Beverly Wical, Gillette Children's Hospital and Clinic, United States
Marc Patterson, Mayo Clinic, United States
Salman Kirmani, Mayo Clinic, United StatesFollow

Document Type

Article

Department

Paediatrics and Child Health

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.

Comments

This work was published before the author joined Aga Khan University.

Publication (Name of Journal)

Molecular Syndromology

Recommended Citation

Volk, A., Conboy, E., Wical, B., Patterson, M., Kirmani, S. (2015). Whole-exome sequencing in the clinic: Lessons from six consecutive cases from the clinician's perspective. Molecular Syndromology, 6(1), 23-31.
Available at: https://ecommons.aku.edu/pakistan_fhs_mc_women_childhealth_paediatr/227