The Importance of Offering Exome or Genome Sequencing in Adult Neuromuscular Clinics

Overview

Journal Biology (Basel)

Publisher MDPI

Specialty Biology

Date 2024 Feb 23

PMID 38392311

Authors

Laynie Dratch

Tanya M Bardakjian

Kelsey Johnson

Nareen Babaian

Pedro Gonzalez-Alegre

Lauren Elman

Colin Quinn

Michael H Guo

Steven S Scherer

Defne A Amado

Affiliations

Soon will be listed here.

Abstract

Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel testing currently being the most common approach; follow-up testing using broad-based methods, such as exome or genome sequencing, is less consistently offered. Here, we use five case examples to illustrate the unique ability of broad-based testing to improve diagnostic yield, resulting in identification of neuropathy, -related disease, -ALS, related progressive gait decline and spasticity, and -related cerebellar ataxia, deafness, narcolepsy, and hereditary sensory neuropathy type 1E. We describe in each case the technological advantages that enabled identification of the causal gene, and the resultant clinical and personal implications for the patient, demonstrating the importance of offering exome or genome sequencing to adults with NMDs.

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