Lunch Symposium Registration
From Genome to Diagnosis: The Next Era of Precision Neurology
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Wed., Oct. 14, from 11:45 AM – 1:45 PM ET
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Satellite Symposium, Non-CME
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Room: 520abcdef
Session Description: Advances in genomic technologies are reshaping the diagnostic landscape in pediatric neurology, yet many patients remain undiagnosed due to limitations of conventional testing approaches. This symposium will explore how integrating Whole Genome Sequencing (WGS) with complementary technologies such as repeat expansion analysis, RNA sequencing (RNA-Seq), and structural variant detection improve diagnostic yield and clinical insight.
The symposium begins with an overview of Baylor Genetics’ unique WGS platform, followed by expert-led clinical discussions highlighting complex neurological presentations, the identification of repeat expansion disorders associated with epilepsy, and the diagnosis and management of ReNU syndrome from both the clinician’s and patient advocacy perspectives. Evolving trends in payer coverage and access to genomic testing will be addressed, providing practical insights into implementation in today’s clinical environment.
The symposium will conclude with an interactive panel discussion focused on real-world application and future directions in pediatric neurology.
Register Below
Speaker: Matthew Walsh, MMSc, CGC
MSL, Baylor Genetics
Beyond Standard Whole Genome Sequencing: How Multimodal Genomics Expands Diagnostic Yield in Neurology
Time: 11:45 AM – 12:05 PM
Description: This session will provide an overview of Baylor Genetics’ WGS platform and its multimodal capabilities. The presentation will focus on how these integrated approaches address key diagnostic gaps in pediatric neurology, including repeat expansion disorders, intronic variants, and complex genomic rearrangements. Clinical examples will illustrate how multimodal testing can uncover diagnoses missed by traditional methods and improve outcomes for patients with neurologic disorders.
Speaker: Amitha Ananth, MD
Associate Professor, Department of Pediatrics University of Alabama at Birmingham, Pediatric Neurologist and Geneticist
Repeat Expansion Disorders in Epilepsy: Clinical Insights and the Evolving Role of Whole Genome Sequencing
Time: 12:05 PM – 12:30 PM
Description: This session will examine the growing recognition of repeat expansion disorders as an important cause of epilepsy and other neurologic conditions. Through case-based discussions, Dr. Ananth will highlight clinically relevant repeat expansion genes including CSTB, SCA10, and other expansion associated disorders and discuss the diagnostic challenges these conditions present. Attendees will gain insight into when repeat expansion disorders should be suspected, the limitations of conventional testing approaches, and how whole genome sequencing with integrated short tandem repeat (STR) analysis can improve diagnostic accuracy and accelerate diagnosis in patient with complex epilepsy phenotypes.
Speaker: Jennifer Bain, MD, PhD
Associate Professor of Neurology and Pediatrics at Columbia University Medical Center
Speaker: Jessica Margrill
President & Co-founder at ReNU Syndrome United
ReNU Syndrome: From Genomic Diagnosis to the Patient Journey – Clinical and Family Perspectives
Time: 12:30 PM – 1:05 PM
Description: This joint session will provide a comprehensive view of ReNU syndrome through both the clinical and patient advocacy perspectives. Dr. Bain will discuss the clinical features, diagnostic challenges, and the role of genomic sequencing in identifying ReNU syndrome, highlighting how early and accurate molecular diagnosis can inform patient management, multidisciplinary care, and future therapeutic opportunities. Complementing the clinical discussion, Margrill will share the lived experience of families navigating the diagnostic odyssey, emphasizing the impact of delayed diagnosis, the importance of collaboration between clinicians, laboratories, and patient advocacy organizations, and the critical role that genomic testing plays in connecting families to resources, research opportunities, and supportive communities. Together the speakers will illustrate how integrating clinical expertise with the patient voice can improve care, foster meaningful partnerships, and ultimately enhance outcomes for individuals living with rare neurological disorders.
Speaker: Chad Moretz, ScD
Director, Health Economics and Outcomes Research at Baylor Genetics
The Evolving Coverage Landscape for Whole Genome Sequencing in Pediatric Neurology
Time: 1:05 PM – 1:25 PM
Description: This session will review the current and evolving payer landscape for whole genome sequencing, including trends in commercial and government coverage, prior authorization considerations, and increasing adoption across healthcare systems. Practical guidance will be provided on navigating reimbursement pathways and optimizing documentation to support access to genomic testing for pediatric neurology patients.
Moderator: Jason Chibuk, MS, CGC
Vice President, Clinical Engagement, Baylor Genetics
Time: 1:25 PM – 1:45 PM
Description: An interactive panel featuring all speakers will address audience questions and discuss real-world challenges in integrating genomic testing into pediatric neurology practice. Topics will include when to pursue genome-first approaches, interpretation of complex findings, payer barriers, and future directions in multimodal genomic diagnostics.