A Qualitive Investigation of Geographic Disparities in Genetic Testing and Care Access for Amyotrophic Lateral Sclerosis: Insights From Patient Journey Mapping

Nadia Sethi,1 Oren A Levy,2 Angela Richardson,3 Olivier A Harari,2 Rosemarie Sellati4 1Northeast ALS Consortium Patient Education, University of Florida, College of Pharmacy, Clinical Pharmacogenomics and Precision Medicine, Gainesville, FL, USA; 2Global Development, Regeneron Pharmaceuticals, Inc., Tarrytown, NY, USA; 3Department of Patient Engagement, IQVIA, Boston, MA, USA; 4Patient Advocacy, Regeneron Pharmaceuticals, Inc., Sleepy Hollow, NY, USACorrespondence: Rosemarie Sellati, Patient Advocacy, Regeneron Pharmaceuticals, Inc., 1 Rockwood Road, Sleepy Hollow, NY, 10591, USA, Tel +1 914-348-5059, Email rosemarie.sellati@regeneron.comPurpose: Amyotrophic lateral sclerosis (ALS) is a progressive neuromuscular disease that is associated with a high patient burden, reduced lifespan, and reduced quality of life. People living with ALS (PLwALS) often experience delays in diagnosis of ~1 year, and while current treatment options can slow disease progression, improve quality of life, and offer modest benefits in functional decline, they do not reverse neuronal damage. Defining and understanding the experiences of PLwALS can help identify gaps and barriers to optimal care.Patients and Methods: This non-interventional study was intended to obtain insights on the patient experience from the perspective of PLwALS. We sought to develop an ALS patient journey map from initial presentation through to end-of-life care for 4 regions (North America, Asia-Pacific, Latin America, and Europe/Middle East/Africa). The map was based on results from a global audit of data sources (including publications, patient narratives, society guidelines, academic reports, industry white papers [n=104]), and one-to-one, 60-minute, semi-structured interviews with PLwALS (n=12) or those caring for PLwALS (n=2). The initial patient journey map was subsequently reviewed during 2 advisory sessions with patient advocates (7 PLwALS and 2 caregivers) in September and November 2023.Results: We identified several barriers and challenges that most impact PLwALS, caregivers, and clinicians, with many similarities but also some differences across the regions.Conclusion: These insights will enable targeted improvements in education, personalized care, resource allocation, care coordination, policy development, and funding, ultimately improving patient outcomes.Keywords: amyotrophic lateral sclerosis, clinical care pathways, genetic testing, patient engagement, patient experience map, quality of life