MyMedR

Displaying all 2 publications

Abstract:

Sort:

Global best practice recommendations for genetic counselling and testing in amyotrophic lateral sclerosis

Salmon K, de Majo M, Basak N, Crook A, Cummings C, Dratch L, et al.

Brain, 2026 Oct 27.
PMID: 42945473 DOI: 10.1093/brain/awag375

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.
Recommendations for essential medicines for multiple sclerosis in low-resource settings

Saylor D, Rijke N, McDonell J, Laurson-Doube J, Avasarala J, Baldin E, et al.

Mult Scler, 2025 Apr;31(4):464-473.
PMID: 40167177 DOI: 10.1177/13524585241308134

BACKGROUND: Multiple sclerosis (MS) is a demyelinating disease of the central nervous system that, when untreated, can lead to significant disability in young adults. Despite the increase in the number of disease-modifying therapies (DMTs), many people living with MS in low-resource settings do not have access to treatment.
OBJECTIVE: The primary aim was to develop recommendations on the minimum essential DMTs for MS that should be available in low-resource settings.
METHODS: The Multiple Sclerosis International Federation established an independent, international panel including healthcare professionals and people with MS. This panel, in collaboration with the Cochrane MS Group and McMaster GRADE Centre, reviewed evidence for use of MS DMTs following standardized GRADE protocols including consideration of balance of benefits and harms; certainty of evidence; resources required and cost-effectiveness and values, equity, feasibility and availability in low-resource settings.
RESULTS: For active and/or worsening forms of relapsing MS, the panel recommends use of ocrelizumab, cladribine, fingolimod, dimethyl fumarate, interferon beta and glatiramer acetate. For active and/or worsening forms of progressive MS, the panel recommends use of rituximab, ocrelizumab, glatiramer acetate, fingolimod and interferon beta.
CONCLUSIONS: Recommendations for the minimum essential DMTs for MS in low-resource settings were developed based on robust consideration of evidence and relevant context.

Filters

Please provide feedback to Administrator (afdal@afpm.org.my)

External Links