Global best practice recommendations for genetic counselling and testing in amyotrophic lateral sclerosis
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.
Authors
- Guy Armand Rouleau (ORCID: https://orcid.org/0000-0001-8403-1418)
- Marcondes C. França (ORCID: https://orcid.org/0000-0003-0898-2419)
- Philip Van Damme (ORCID: https://orcid.org/0000-0002-4010-2357)
- Thos Cochrane
- Ashley Crook (ORCID: https://orcid.org/0000-0001-5578-0460)
- Atchayaram Nalini (ORCID: https://orcid.org/0000-0001-9791-3639)
- Giulia Valente (ORCID: https://orcid.org/0000-0002-1449-2515)
- Ammar Al‐Chalabi (ORCID: https://orcid.org/0000-0002-4924-7712)
- Bugyeong Son (ORCID: https://orcid.org/0009-0004-5372-5248)
- Albert Koo
- Jeannine M. Heckmann (ORCID: https://orcid.org/0000-0002-8999-718X)
- Christopher J. McDermott (ORCID: https://orcid.org/0000-0002-1269-9053)
- Kuldip D. Dave (ORCID: https://orcid.org/0009-0008-3467-0260)
- Kristiana Salmon (ORCID: https://orcid.org/0000-0002-0013-5568)
- Martina de Majo (ORCID: https://orcid.org/0000-0003-4524-6293)
- Dilraj Singh Sokhi (ORCID: https://orcid.org/0000-0002-8819-0851)
- Laynie Dratch (ORCID: https://orcid.org/0000-0002-2179-3199)
- Amy Shea (ORCID: https://orcid.org/0009-0002-4929-7426)
- Jennifer Roggenbuck (ORCID: https://orcid.org/0000-0002-6583-9996)
- Gisella Gargiulo (ORCID: https://orcid.org/0000-0003-1294-5899)
- Jade Howard (ORCID: https://orcid.org/0000-0001-7182-593X)
- Amy E. Easton (ORCID: https://orcid.org/0000-0002-6864-4983)
- Azlina Ahmad‐Annuar (ORCID: https://orcid.org/0000-0001-6329-4366)
- Matt Harms
- Nortina Shahrizaila (ORCID: https://orcid.org/0000-0003-0031-7692)
- Priya Treesa Thomas (ORCID: https://orcid.org/0000-0003-2421-7303)
- Steve Vucic (ORCID: https://orcid.org/0000-0002-0956-4633)
- Nazli A. Basak
- Alisdair McNeill (ORCID: https://orcid.org/0000-0001-5702-3631)
- Maya Binet
- Cathy Cummings
- Sali Farhan
- Paula Trefiak
- Natalie Gauld
- Gethin Thomas
- Alliance Genetics Task Force Working Group Members
- Daniel Knight
- Adria Martig
- Madina Kara
- Agnes Nishimura
- Bruce Virgo
- Jeff Vierstra
- Paige Higgins
Institutions
- Motor Neurone Disease Association (GB)
- Montreal Neurological Institute and Hospital (CA)
- Koç University (TR)
- University of Cape Town (ZA)
- Universidade Estadual de Campinas (UNICAMP) (BR)
- King's College London (GB)
- Columbia University Irving Medical Center (US)
- The Ohio State University Wexner Medical Center (US)
- University of Malaya (MY)
- Aga Khan University Nairobi (KE)
- International Alliance of ALS/MND Associations (GB)
- Aga Khan University (TZ)
- Hanyang University Seoul Hospital (KR)
- Austin Health (AU)
- Suna and İnan Kıraç Foundation (TR)
- Koç Üniversitesi Translasyonel Tıp Araştırma Merkezi (TR)
- Hanyang University (KR)
- Carleton University (CA)
- National Institute of Mental Health and Neurosciences (IN)
- University of Pennsylvania (US)
- Macquarie University (AU)
- KU Leuven (BE)
Publication Details
- Journal
- Brain
- Published
- 2026-10-27
- DOI
- https://doi.org/10.1093/brain/awag375
- Primary Topic
- Amyotrophic Lateral Sclerosis Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institute for Health and Care Research