The Impact and Utility of Genetic Panel Testing in Autoimmune Neurology Practice: A Single Center Experience
Sydney Lee1, Chloe Stein1, Ka-Ho Wong1, Tracy Schaffer1, Emily Spoth1, Melissa Wright1, Tammy Smith1, Stacey Clardy1
1University of Utah
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.
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