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A roadmap for genetic testing in ALS
  1. Bryan J Traynor
  1. Correspondence to Dr Bryan J Traynor, Neuromuscular Diseases Research Unit, Laboratory of Neurogenetics, National Institute on Aging, NIH, Bethesda, MD 20892, USA; traynorb{at}

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Up-to-date guidelines help neurologists and ALS patients determine when genetic testing might be appropriate and how best to interpret results

Chiò and colleagues present a new set of clinical suggestions for the genetic counselling and testing of patients diagnosed with amyotrophic lateral sclerosis (ALS).1 The paper provides sage, straightforward advice for neurologists faced with questions from patients or their relatives about their risk of developing this fatal neurodegenerative disease and the role of genetic testing in quantifying that risk. Key among their recommendations is that mutational screening be extended to include more recently discovered genes. Furthermore, genetic testing should be discussed with all patients diagnosed with ALS, regardless of their family history. In so doing, the authors highlight the growing awareness among both the medical community and patients as to the predictive power of modern genomics.

Recent advances in our understanding of ALS genetics make these updated clinical suggestions particularly timely. The genetic aetiology of two …

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  • Funding This work was supported by the Intramural Research Programs of the US National Institutes of Health (NIH), National Institute on Aging (Z01-AG000949-02).

  • Competing interests BJT has a patent pending on the clinical testing and therapeutic intervention for the hexanucleotide repeat expansion of C9ORF72.

  • Provenance and peer review Commissioned; internally peer reviewed.

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