touchMEETING HIGHLIGHTS Genetic counseling and testing in neuromuscular disease
Watch leading experts discuss the importance of genetic counseling and testing in spinal muscular atrophy (SMA) and amyotrophic lateral sclerosis (ALS).
Watch this short animation to better understand the role of genetic counselling and genetic testing in SMA and ALS.
Genetic counseling and testing in neuromuscular disease: spotlight on SMA and ALS.
Symposium presentations by leading neuromuscular disease expert Dr Jacinda Sampson.
Genetic counseling and testing in neuromuscular disease: spotlight on SMA and ALS.
Symposium presentations by leading neuromuscular disease expert Dr Jacinda Sampson.
Genetic counseling and testing in neuromuscular disease: spotlight on SMA and ALS.
Symposium presentations by leading neuromuscular disease expert Dr Jacinda Sampson.
Overview & Learning Objectives
Overview
SMA and ALS are progressive neuromuscular diseases, with autosomal recessive and complex inheritance genetics, respectively.1,2 Traditionally these diseases have been diagnosed via clinical examination at the time of symptom presentation but the utilization of genetic testing is now increasing.3,4 In this activity, leading experts discuss the role of genetic counseling in supporting informed decision making regarding the potential risks and benefits of genetic testing.
Learning Objectives
After watching this activity, participants should be better able to:
- Outline how the emergence of treatments transformed genetic testing policies in SMA
- Understand the importance of genetic testing to reduce time to diagnosis in genetic ALS
About Faculty
Dr Jacinda Sampson
Stanford University Medical Center Palo Alto, CA, United States
Dr Jacinda Sampson has a MD and PhD from the University of Alabama and completed her neurology residency and neurogenetics fellowship at the University of Utah. She has an interest in treatments for neurogenetic disorders and the use of next-generation sequencing to genetic testing.
Dr Jacinda Sampson discloses: No known competing financial interests or personal relationships that could have appeared to influence the content of this activity.
References
- Mercuri E, Finkel RS, Muntoni F, et al. Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord. 2018;28:103-15.
- Dilliott AA, Al Nasser A, Elnagheeb M, et al Amyotrophic lateral sclerosis spectrum disorders Gene Curation Expert Panel. Clinical testing panels for ALS: global distribution, consistency, and challenges. Amyotroph Lateral Scler Frontotemporal Degener. 2023;24(5-6):420-435.
- Serra-Juhe C, Tizzano EF. Perspectives in genetic counseling for spinal muscular atrophy in the new therapeutic era: early pre-symptomatic intervention and test in minors. Eur J Hum Genet. 2019;27:1774-82.
- Volk AE, Weishaupt JH, Andersen PM, et al. Current knowledge and recent insights into the genetic basis of amyotrophic lateral sclerosis. Med Genet. 2018;30(2):252-258.