Does Sponsored Genetic Testing For Pediatric Epilepsy Expand Access?
Abstract number :
3.09
Submission category :
12. Genetics / 12A. Human Studies
Year :
2025
Submission ID :
768
Source :
www.aesnet.org
Presentation date :
12/8/2025 12:00:00 AM
Published date :
Authors :
Presenting Author: Yi-Lee Ting, MS, CGC – Labcorp
Sarah Poll, PhD – GeneDx
Sonal Bhatia, MD – Medical University of South Carolina
Edward Cooper, MD, PhD – Baylor College of Medicine
Elaine Wirrell, MD – Mayo Clinic, Rochester MN, USA.
Andrew Silverman, MD, MHS – Stanford School of Medicine and Lucile Packard Children’s Hospital
Mitch Bailey, MS – BioMarin Pharmaceutical Inc.
Swaroop Aradhya, PhD – Illumina
Daniel Pineda Alvarez, MD – Labcorp
Rachit Patil, MD – Alpert Medical School of Brown University
Rationale: Several genetic testing and biopharmaceutical companies have partnered to offer industry-sponsored genetic testing programs (STPs). These programs remove cost barriers to genetic testing to enable development of precision therapies and more efficient access to, and awareness of, targeted care.The purpose of this study was to retrospectively examine the population differences, delay in diagnosis, and results of patients who had genetic testing for epilepsy inside an STP (I-STP) and outside an STP (O-STP).
Methods: Unrelated probands were tested I-STP and O-STP between 2016-2024 on a multigene epilepsy panel (89-302 genes). Inclusion criteria were patients < 96 months at testing and residing in the US. Demographic and clinical information were provided by the ordering clinician on the test requisition form. We used the Child Opportunity Index (COI) 3.0 to assign individuals to nationally normed socioeconomic status (SES) scores from their ZIP codes. To evaluate differences between I-STP and O-STP cohorts, P-values were calculated using both parametric and non-parametric tests, where appropriate; analysis of variance and logistic regression were employed to test multiple factors.
Results: Significantly more individuals were tested I-STP (N=45,836) than O-STP (N=11,639). Black and White individuals were more likely to get tested I-STP, while Asian, Hispanic and individuals noted to have multiple ethnicities were more likely to get tested O-STP (p< 0.005). I-STP was more likely to have high and very high SES, while individuals tested O-STP were more likely to have very low and low SES. The age of seizure onset was lower in O-STP compared to I-STP cohort (I-STP 28.24 months vs 23.29 months, p< 0.0001). Individuals from I-STP had a shorter time to testing than O-STP (I-STP 16.02 months vs. O-STP 18.78 months, p< 0.0001). Across both cohorts, compared to White individuals, Black and Hispanic individuals were found to have a longer time to testing (White 15.67 months; Black 16.87 months; Hispanic 17.40 months, p< 0.005). The overall positive diagnostic rate was higher for O-STP than I-STP (15.94% vs 13.14%, p< 0.0001). Lastly, logistic regression analysis revealed that ethnicity, sex, age of onset and time to testing all significantly affected molecular diagnosis rate.
Genetics