Evidence-based guidelines for ALS genetic counseling and testing

Genetic testing / Genetic testing guidelines

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Despite progress in ALS-associated gene discovery and treatment, inconsistencies regarding implementation of genetic counseling and testing have persisted. This prompted development of evidence-based consensus guidelines published in 2023 to support neurologists, genetic counselors, and other clinicians and to support establishing standards of care regarding implementation of genetic counseling and testing for patients with ALS.1 Draft recommendations developed through a literature review process were assessed based on the quality of evidence and clinical relevance and then circulated to a panel of experts using a modified Delphi approach to achieve consensus on final recommendations.1 The first 5 recommendations related to genetic testing were considered to be “Strong” on the GRADE rating (quality of evidence).1*

Recommendations on offering clinical genetic testing to persons with ALS1

Recommendation 1:
All persons with ALS should be offered genetic testing.
Recommendation 2:
All persons with ALS should be offered testing with an ALS gene panel that includes C9orf72.
Recommendation 3:
All persons with ALS should be offered testing with a gene panel that includes SOD-1.
Recommendation 4:
All persons with ALS should be offered testing with an ALS gene panel that includes FUS.
Recommendation 5:
All persons with ALS should be offered testing with an ALS gene panel that includes TARDBP.

See what these guidelines mean for the ALS community at ALS.org

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*Recommendations were also assessed for strength of evidence by adapting two systems: the GRADE system and the Evaluation of Genomic Applications in Practice and Prevention (EGAPP).1

GRADE=Grading of Recommendations, Assessment, Development and Evaluation.

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Reference: 1. Roggenbuck J, Eubank BHF, Wright J, Harms MB, Kolb SJ; ALS Genetic Testing and Counseling Guidelines Expert Panel. Evidence-based consensus guidelines for ALS genetic testing and counseling. Ann Clin Transl Neurol. 2023;10(11):2074-2091. doi:10.1002/acn3.51895

References

1. Roggenbuck J, Eubank BHF, Wright J, Harms MB, Kolb SJ; ALS Genetic Testing and Counseling Guidelines Expert Panel. Evidence-based consensus guidelines for ALS genetic testing and counseling. Ann Clin Transl Neurol. 2023;10(11):2074-2091. doi:10.1002/acn3.51895