Abstract Details

Title The Impact and Utility of Genetic Panel Testing in Autoimmune Neurology Practice: A Single Center Experience

Topic Autoimmune Neurology

Presentation(s) P6 - Poster Session 6 (11:45 AM-12:45 PM)

Poster/Presentation
Number 8-001

Objective Evaluate the impact of genetic panel testing in adult patients seen in an autoimmune neurology clinic.

Background Many adult patients assessed for autoimmune neurologic disease remain without a clear diagnosis. Genetic testing is increasingly available and may be performed in patients with a family history of inflammatory disease or features to suggest a genetic etiology.

Design/Methods

We retrospectively reviewed the electronic medical records and Invitae genetic testing results for adult patients seen in a long-established autoimmune neurology clinic in the Mountain West from July 2018 to September 2024. Data were collected on patient demographics, family history, clinical phenotype, diagnosis, and treatment. Genetic results were classified as positive, negative, or variant of uncertain significance (VUS). Positive results were subcategorized by carrier status, increased risk alleles, and pathogenic mutations.

Results Of 994 patients followed in the autoimmune neurology clinic during the study period, 179 (18.0%) had one or more Invitae genetic panels ordered. Preliminary data revealed that two-thirds of patients with genetic panel testing had one or more VUS and one-third had one or more positive result. Approximately 10% had an increased risk allele in the gene for nucleotide-binding oligomerization domain-containing protein 2 (NOD2), a protein that plays an important role in the human immune system. Ongoing analysis will use clinical data to determine the impact of genetic testing on diagnosis and management, as well as evaluate associations between frequently identified variants and patterns in clinical presentation.

Conclusions The rate of VUS and pathogenic positive mutations was relatively high in patients with genetic panel testing in this cohort. While the increasing availability of genetic panel testing can have an impact on patient care, there are numerous barriers to clinical utilization and applicability. Understanding these may help clinicians access and target genetic testing for undiagnosed adult patients.

Authors/Disclosures
Sydney Lee, MD (Adult Neurology Program, University of Toronto) PRESENTER	Dr. Lee has nothing to disclose.
Chloe Stein	Chloe Stein has nothing to disclose.
Ka-Ho Wong (U of U Neurology Clinic)	The institution of Mr. Wong has received research support from The Sumaira Foundation . The institution of Mr. Wong has received research support from The Siegel Rare Neuroimmune Association.
Tracy E. Schaffer, RN (University of Utah)	Mrs. Schaffer has nothing to disclose.
Emily Spoth (University of Utah)	Emily Spoth has nothing to disclose.
Melissa A. Wright, MD (University of Utah)	Dr. Wright has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Novartis .
Tammy L. Smith, MD, PhD (Imaging and Neurosciences Center)	Dr. Smith has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for EMD Serono. The institution of Dr. Smith has received research support from Alexion/AstraZeneca.
Stacey Clardy, MD, PhD, FAAN (University of Utah)	Dr. Clardy has received personal compensation for serving as an employee of Veterans Health Administration (VHA). Dr. Clardy has received personal compensation for serving as an employee of University of Utah Health. Dr. Clardy has received personal compensation in the range of $5,000-$9,999 for serving on a Scientific Advisory or Data Safety Monitoring board for AstraZeneca/Alexion. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Amgen/Horizon. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Arialys. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Kyverna. Dr. Clardy has received personal compensation in the range of $10,000-$49,999 for serving as an Editor, Associate Editor, or Editorial Advisory Board Member for Neurology/AAN Publications. The institution of Dr. Clardy has received research support from NIH/NINDS. The institution of Dr. Clardy has received research support from SRNA. The institution of Dr. Clardy has received research support from Alexion/AstraZeneca. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving as a AAN Summer Meeting CoDirector Travel and Lodging with AAN. Dr. Clardy has received personal compensation in the range of $500-$4,999 for serving as a Grand Rounds Travel/Lodging/Honoraria with U of Iowa, Miami, Stanford, Barrow, Beaumont Health, CCF, Emory, Penn State, Mayo Clinic, Walter Reed.

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