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Clinical testing panels for ALS: global distribution, consistency, and challenges.

Allison A Dilliott1, Ahmad Al Nasser2, Marwa Elnagheeb3

  • 1Department of Neurology and Neurosurgery, McGill University, Montreal, Canada.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
|March 10, 2023
PubMed
Summary

Clinical genetic testing for amyotrophic lateral sclerosis (ALS) shows significant variation globally. This heterogeneity risks missed diagnoses, highlighting the need for standardized gene panels in ALS genetic testing.

Keywords:
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Area of Science:

  • Neurology
  • Genetics
  • Medical Diagnostics

Background:

  • The Clinical Genome Resource (ClinGen) amyotrophic lateral sclerosis (ALS) spectrum disorders Gene Curation Expert Panel (GCEP) was formed to standardize gene evidence for ALS.
  • Assessing current clinical genetic testing for ALS is crucial for patient care.

Approach:

  • Reviewed the NIH Genetic Testing Registry (GTR) and ALS GCEP members.
  • Compared genes included in frequently used ALS clinical genetic testing panels.

Key Points:

  • 14 ALS-specific clinical panels from 14 labs varied widely, covering 4 to 54 genes.
  • 40% of 91 genes appeared on only one panel; 15.4% lacked clear literature links to ALS.
  • ANG, SOD1, TARDBP, and VAPB were universally included; C9orf72 hexanucleotide repeat expansion (HRE) analysis was offered by 50%.

Conclusions:

  • Significant variability in ALS genetic testing panels is concerning.
  • Inconsistent gene inclusion can reduce diagnostic yield and lead to missed diagnoses.
  • Consensus on gene selection for ALS clinical genetic tests is necessary to improve patient outcomes.