Genetic testing can be considered for all ALS patients

Genetic testing of all patients living with ALS may provide a better understanding of the basis of their condition by discovering which ALS-associated gene mutation is affecting them.1

Genetic testing—the path to identifying genetic ALS

A number of genetic mutations have been found in both fALS and sALS cases,1-5 which means that even if a patient has no known family history of the disease, a genetic component may still be involved.6 A genetic test provides important information about the type of mutation a patient living with ALS has, and could therefore be beneficial for anyone living with ALS and their families.

Genetic testing is an option for patients living with ALS and may allow for more informed healthcare decisions and life choices. Also, identifying their genetic mutation could indicate whether the patient living with ALS is eligible for clinical trials specific to their ALS gene mutation.2,7 Finally, offering genetic counseling could help patients living with ALS and their families realize what it means to have a genetic mutation.2,7-9

No-charge genetic testing

ALS may be associated with a genetic mutation and only genetic testing can prove it. Find out more about the no-charge genetic testing program for patients living with ALS and their families.

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Background image of DNA’s structure and portrait of Prof. Philippe Corcia
Genetic testing in clinical practice

Professor Corcia shared his perspective on genetic testing and how he responds to challenges from fellow physicians and patients.

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“Genetics may help us understand and be better informed about a patient's prognosis.”

– Prof. Philippe Corcia

References: 1. Shepheard SR, Parker MD, Cooper-Knock J, et al; on behalf of Project MINE Consortium; Project MinE. Value of systematic genetic screening of patients with amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2021;92(5):510-518. 2. Roggenbuck J, Quick A, Kolb SJ. Genetic testing and genetic counselling for amyotrophic lateral sclerosis: an update for clinicians. Genet Med. 2017;19(3):267-274. 3. RentonA E, Chiò A, Traynor BJ. State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci. 2014;17(1):17-23. 4. Zarei S, Carr K, Reiley L, et al. A comprehensive review of amyotrophic lateral sclerosis. Surg Neurol Int. 2015;6:171. 5. Byrne S, Walsh C, Lynch C, et al. Rate of familial amyotrophic lateral sclerosis: a systemic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2011;82:623-627. 6. Nguyen HP, van Broeckhoven C, van der Zee J. ALS genes in the genomic era and their implications for FTD. Trends Genet. 2018;34(6):404-423. 7. Benatar M, Stanislaw C, Reyes E, et al. Presymptomatic ALS genetic counseling and testing: experience and recommendations. Neurology. 2016;86(24):2295-2302. 8. Kiernan MC, Vucic S, Cheah BC, et al. Amyotrophic lateral sclerosis. Lancet. 2011;377(9769):942-955. 9. Brown RH, Al-Chalabi A. Amyotrophic Lateral Sclerosis. New Engl J Med. 2017;377(2):162-172.

References

1. Shepheard SR, Parker MD, Cooper-Knock J, et al; on behalf of Project MINE Consortium; Project MinE. Value of systematic genetic screening of patients with amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2021;92(5):510-518. 2. Roggenbuck J, Quick A, Kolb SJ. Genetic testing and genetic counselling for amyotrophic lateral sclerosis: an update for clinicians. Genet Med. 2017;19(3):267-274. 3. RentonA E, Chiò A, Traynor BJ. State of play in amyotrophic lateral sclerosis genetics. Nat Neurosci. 2014;17(1):17-23. 4. Zarei S, Carr K, Reiley L, et al. A comprehensive review of amyotrophic lateral sclerosis. Surg Neurol Int. 2015;6:171. 5. Byrne S, Walsh C, Lynch C, et al. Rate of familial amyotrophic lateral sclerosis: a systemic review and meta-analysis. J Neurol Neurosurg Psychiatry. 2011;82:623-627. 6. Nguyen HP, van Broeckhoven C, van der Zee J. ALS genes in the genomic era and their implications for FTD. Trends Genet. 2018;34(6):404-423. 7. Benatar M, Stanislaw C, Reyes E, et al. Presymptomatic ALS genetic counseling and testing: experience and recommendations. Neurology. 2016;86(24):2295-2302. 8. Kiernan MC, Vucic S, Cheah BC, et al. Amyotrophic lateral sclerosis. Lancet. 2011;377(9769):942-955. 9. Brown RH, Al-Chalabi A. Amyotrophic Lateral Sclerosis. New Engl J Med. 2017;377(2):162-172.