ArticleNeurology2024
Disparities in Genetic Testing for Neurologic Disorders.
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Article in Neurology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 12 papers.
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12citing papers in PubMed
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Who cites it
12 citing papers in PubMed.
- Genetic profile of motor neuron disease in a multiregional Brazilian cohort: an 18-year real-world experience in 1,911 patients.Frontiers in neurology · 2026Article
- Barriers to clinical genetic testing in movement disorders.Current opinion in neurology · 2025Review
- Disparities in the utilization of genetic testing for non-acquired infantile epileptic spasms syndrome in a single healthcare center in North Carolina.Epilepsia open · 2025Article
- Association of Social Determinants of Health With Genetic Test Request and Completion Rates in Children With Neurologic Disorders.Neurology · 2025Observational
- Disparities in Genetic Testing for Inborn Errors of Immunity.The journal of allergy and clinical immunology. In practice · 2025Article
- Mapping the state-of-the-art of the barriers for personalized preventive approaches worldwide: A scoping review of reviews.PloS one · 2025Article
- Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders.Annals of neurology · 2024Review
- Article
- Protocol for a type 3 hybrid implementation cluster randomized clinical trial to evaluate the effect of patient and clinician nudges to advance the use of genomic medicine across a diverse health system.Implementation science : IS · 2024Article
- Disparities in Genetic Testing for Neurologic Disorders.Neurology · 2024Article
- Diagnostic approach to episodic ataxia types 1 and 2: a proposed algorithm for limited resource-settings.Frontiers in neurologyArticle
- Neighborhood Disadvantage and Genetic Testing Use Among a Nationally Representative Sample of US Adults.Journal of primary care & community healthArticle
Corrections and comments
- Erratum issued
Authors and funding
21 authors.
Aaron BaldwinFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0002-8970-1270
Juliette CopelandFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0009-0009-3128-0782
Meron AzageFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0009-0004-6179-6505
Laynie DratchFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0002-2179-3199
Kelsey JohnsonFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0009-0001-7162-1897
Rachel A PaulFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0009-0001-3793-6326
Defne A AmadoFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0001-6202-3900
Michael BaerFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0009-0001-3739-4344
Andres DeikFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0001-5527-0196
Lauren B ElmanFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Michael GuoFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0002-1357-6389
Ali G HamedaniFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0001-5949-6395
David J IrwinFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0002-5599-5098
Aaron LaskerFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.
Jennifer Orthmann-MurphyFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0002-2909-1722
Colin C QuinnFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0003-0618-5854
Thomas F TropeaFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0003-0766-1496
Steven S SchererFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0002-3900-2367
Russell T ShinoharaFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0001-8627-8203
Roy H HamiltonFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0001-8400-0726
Colin A EllisFrom the Department of Neurology (A.B., J.C., M.A., L.D., K.J., R.A.P., D.A.A., M.B., A.D., L.B.E., M.G., A.G.H., D.J.I., A.L., J.O.-M., C.C.Q., T.F.T., S.S.S., R.H.H., C.A.E.), Penn Statistics in Imaging and Visualization Center (PennSIVE) (R.T.S.), Department of Biostatistics, Epidemiology, and Informatics, and Center for Biomedical Image Computing and Analytics (R.T.S.), Department of Radiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia.ORCID 0000-0003-2152-8106
Funding
Research Education ComponentP30AG072979 · NIA · UNIVERSITY OF PENNSYLVANIA · PI DAVID A WOLK · 2021 to 2026
$24.8MPolygenic risk in familial epilepsyK23NS121520 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI ELLIS, COLIN · 2021 to 2025
$1.1MThe Role of Alzheimer's Disease Genetic Risk in Predicting Parkinson's Disease DementiaK23NS114167 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI TROPEA, THOMAS FRANCIS · 2020 to 2024
$985kNIA NIH HHS P30 AG072979NINDS NIH HHS K23 NS114167NINDS NIH HHS K23 NS121520
Abstract
BACKGROUND AND
objectivesGenetic testing is now the standard of care for many neurologic conditions. Health care disparities are unfortunately widespread in the US health care system, but disparities in the utilization of genetic testing for neurologic conditions have not been studied. We tested the hypothesis that access to and results of genetic testing vary according to race, ethnicity, sex, socioeconomic status, and insurance status for adults with neurologic conditions.
methodsWe analyzed retrospective data from patients who underwent genetic evaluation and testing through our institution's neurogenetics program. We tested for differences between demographic groups in 3 steps of a genetic evaluation pathway: (1) attending a neurogenetic evaluation, (2) completing genetic testing, and (3) receiving a diagnostic result. We compared patients on this genetic evaluation pathway with the population of all neurology outpatients at our institution, using univariate and multivariable logistic regression analyses.
resultsBetween 2015 and 2022, a total of 128,440 patients were seen in our outpatient neurology clinics and 2,540 patients underwent genetic evaluation. Black patients were less than half as likely as White patients to be evaluated (odds ratio [OR] 0.49, DISCUSSION: We observed unequal utilization of our clinical neurogenetics program for patients from marginalized and minoritized demographic groups, especially Black patients. Among patients who do undergo evaluation, all groups benefit similarly from genetic testing when it is indicated. Understanding and removing barriers to accessing genetic testing will be essential to health care equity and optimal care for all patients with neurologic disorders.
Indexed as
Nervous System DiseasesNeurologyAdultAmbulatory Care FacilitiesGenetic TestingHumansRetrospective Studies
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