Global best practice recommendations for genetic counselling and testing in amyotrophic lateral sclerosis
Kristiana Salmon, Martina de Majo, Nazli Basak, Ashley Crook, Cathy Cummings, Laynie Dratch, Marcondes C França, Jeannine Heckmann, Paige Higgins, Daniel Knight, Albert Koo, Atchayaram Nalini, Guy Rouleau, Nortina Shahrizaila, Dilraj Singh Sokhi, Bugyeong Son, Priya Thomas, Paula Trefiak, Philip Van Damme, , Azlina Ahmad-Annuar, Maya Binet, Thos Cochrane, Kuldip Dave, Amy Easton, Sali Farhan, Gisella Gargiulo, Natalie Gauld, Jade Howard, Madina Kara, Adria Martig, Christopher McDermott, Alisdair McNeill, Agnes Nishimura, Amy Shea, Gethin Thomas, Giulia Valente, Jeff Vierstra, Bruce Virgo, Steve Vucic, Jennifer Roggenbuck, Matt Harms, Ammar Al-ChalabiAbstract
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease with substantial clinical and genetic heterogeneity. Advances in ALS genomics, emerging gene-targeted therapies, and genotype-specific clinical trials have increased the importance of genetic counselling and testing for individuals with ALS and their families. However, access to these services remains highly variable globally due to disparities in healthcare infrastructure, laboratory capacity, specialist availability, and funding. Existing guidance has largely been developed in high-resource settings and may not be feasible or equitable worldwide.
The International Alliance of ALS/MND Associations convened an international, multidisciplinary Genetics Task Force to develop expert consensus recommendations for genetic counselling, genetic testing, and laboratory practice in ALS across diverse geographic and resource settings. Recommendations were developed through a structured, iterative consensus process incorporating clinical expertise, lived experience perspectives, published evidence, and global representation. Final recommendations were reviewed and approved through anonymous voting at an in-person consensus meeting.
The resulting recommendations establish both minimum and aspirational best practices, emphasizing equitable access, informed decision-making, culturally responsive counselling, tiered genetic testing approaches, and context-appropriate laboratory standards. These globally informed recommendations provide a pragmatic framework to support clinicians, laboratories, policymakers, and advocacy organizations in improving access to high-quality ALS genetics services worldwide.