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Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts

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Abstract

The role of genetic testing in neurologic clinical practice has increased dramatically in recent years, driven by research on genetic causes of neurologic disease and increased availability of genetic sequencing technology. Genetic testing is now indicated for adults with a wide range of common neurologic conditions. The potential clinical impacts of a genetic diagnosis are also rapidly expanding, with a growing list of gene-specific treatments and clinical trials, in addition to important implications for prognosis, surveillance, family planning, and diagnostic closure. The goals of this review are to provide practical guidance for clinicians about the role of genetics in their practice and to provide the neuroscience research community with a broad survey of current progress in this field. We aim to answer three questions for the neurologist in practice: Which of my patients need genetic testing? What testing should I order? And how will genetic testing help my patient? We focus on common neurologic disorders and presentations to the neurology clinic. For each condition, we review the most current guidelines and evidence regarding indications for genetic testing, expected diagnostic yield, and recommended testing approach. We also focus on clinical impacts of genetic diagnoses, highlighting a number of gene-specific therapies recently approved for clinical use, and a rapidly expanding landscape of gene-specific clinical trials, many using novel nucleotide-based therapeutic modalities like antisense oligonucleotides and gene transfer. We anticipate that more widespread use of genetic testing will help advance therapeutic development and improve the care, and outcomes, of patients with neurologic conditions.

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Abbreviations

ES:

Exome sequencing

GS:

Genome sequencing

VUS:

Variant of uncertain significance

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Authors and Affiliations

  1. Department of Neurology, University of Pennsylvania Perelman School of Medicine, 3400 Spruce St, 3 West Gates Building, Philadelphia, PA, 19104, USA

    Laynie Dratch, Meron Azage, Aaron Baldwin, Kelsey Johnson, Rachel A. Paul, Tanya M. Bardakjian, Sara-Claude Michon, Defne A. Amado, Michael Baer, Andres F. Deik, Lauren B. Elman, Pedro Gonzalez-Alegre, Michael H. Guo, Ali G. Hamedani, David J. Irwin, Aaron Lasker, Jennifer Orthmann-Murphy, Colin Quinn, Thomas F. Tropea, Steven S. Scherer & Colin A. Ellis

  2. Sarepta Therapeutics Inc, Cambridge, MA, 02142, USA

    Tanya M. Bardakjian

  3. Spark Therapeutics Inc, Philadelphia, PA, 19104, USA

    Pedro Gonzalez-Alegre

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  1. Laynie Dratch
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  2. Meron Azage
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Correspondence to Colin A. Ellis.

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Conflicts of interest

L. Dratch has consulted for Passage Bio, Biogen, and Sano Genetics. None of these represent a conflict for this manuscript. M. Azage has no disclosures. A. Baldwin has no disclosures. K. Johnson has no disclosures. R.A. Paul is a site genetic counselor for the Parkinson Foundation PDGENEration study. T.M. Bardakjian is an employee and equity holder of Sarepta Therapeutics, Inc. S. Michon has no disclosures. D.A. Amado has no disclosures. M. Baer has no disclosures. A.F. Deik has served on the Advisory Board for Supernus Therapeutics and Acorda therapeutics. He has received royalties from UpToDate and Elsevier. He also has received clinical trial funding from Addex therapeutics, Cerevel therapeutics, Annovis Bio, Lundbeck pharmaceuticals, Eli Lilly, and Teva pharmaceuticals. L.B. Elman has had financial relationships with Biogen, Genentech, PTC Therapeutics, Edgewise Therapeutics, and Apellis Pharmaceuticals. P. Gonzalez-Alegre is an employee and equity holder of Spark Therapeutics, a Roche company. M.H. Guo has no disclosures. A.G. Hamedani has received grants from the National Eye Institute and Michael J. Fox Foundation. He has been part of clinical trials sponsored by Biogen and Biohaven. None are conflicts of interest with respect to this manuscript. D.J. Irwin has no disclosures. A. Lasker has no disclosures. J. Orthmann-Murphy is a site PI for Vigil Neurosciences. She has received grants from National MS Society and GLIA-CTN, and honorarium from Novoglia. C. Quinn has served on Advisory Boards for Amylyx Pharmaceuticals and Biogen. He has Consulted for Guidepoint, GLG and Pinnacle Research Group. T.F. Tropea has received grants from the NIH/NINDS (K23-NS114167), and research support from the Parkinson Foundation and The Michael J Fox Foundation. He has received consulting fees and honoraria from Sanofi Genzyme, Bial, and the Parkinson Foundation. S.S. Scherer has served on the Scientific Advisory Board for Mitochondria in Motion and Disarm Therapeutics, and consulted for Applied Therapeutics, DTx Therapeutics, Passage Bio, Pfizer, and Toray Industries. C.A. Ellis is supported by NIH Award Number K23NS121520; and by the American Academy of Neurology Susan S. Spencer Clinical Research Training Scholarship. He also receives consulting fees from an EEG company called EpiMinder (no relationship to this manuscript).

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Dratch, L., Azage, M., Baldwin, A. et al. Genetic testing in adults with neurologic disorders: indications, approach, and clinical impacts. J Neurol 271, 733–747 (2024). https://doi.org/10.1007/s00415-023-12058-6

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