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Public Health Genomics in Neurological Disorders: A Call for Early Detection and Equitable Access

Received: 5 July 2025     Accepted: 8 August 2025     Published: 19 December 2025
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Abstract

Neurological disorders constitute a major contributor to global morbidity and disability, with both monogenic diseases (e.g., spinal muscular atrophy) and complex polygenic conditions (e.g., Alzheimer’s disease) presenting significant diagnostic and therapeutic challenges. Advances in public health genomics-the application of genomics to improve population health-offer unprecedented opportunities for early detection, risk prediction, and targeted interventions in the context of neurological disease. This manuscript aims to examine the role of public health genomics in enhancing the diagnosis, prevention, and management of neurological disorders at the population level. It critically evaluates how genomic tools, including next-generation sequencing, polygenic risk scoring, and population screening, can be integrated into public health systems to enable precision medicine approaches. Particular emphasis is placed on the potential of genomics to reduce diagnostic delays, inform individualized treatment strategies, and facilitate pre-symptomatic interventions. Despite these advances, the equitable implementation of genomic technologies remains constrained by a range of barriers, including limited infrastructure, insufficient genomic literacy, ethical concerns regarding data use and consent, and sociocultural sensitivities-especially in low- and middle-income countries (LMICs). Through case studies and comparative policy analysis, this paper identifies key challenges and enablers in translating genomic science into equitable public health practice. We propose a framework for the integration of genomics into national health systems that includes strategic investment in genomic infrastructure, capacity-building of healthcare professionals, development of ethical and regulatory standards, and community engagement to ensure cultural acceptability. Ultimately, the incorporation of genomics into public health policy has the potential to transform the landscape of neurological care and reduce global health disparities if implemented with scientific rigor and a commitment to equity.

Published in Clinical Neurology and Neuroscience (Volume 9, Issue 4)
DOI 10.11648/j.cnn.20250904.13
Page(s) 69-72
Creative Commons

This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited.

Copyright

Copyright © The Author(s), 2025. Published by Science Publishing Group

Keywords

Public Health Genomics, Neurological Disorders, Early Detection, Health Equity, Genetic Screening, Personalized Medicine, Genomic Policy, Ethical Implications

References
[1] Feigin, V. L., et al. (2020). "Global burden of neurological disorders: from global burden of disease estimates to actions." Lancet Neurology, 19(5), 482–494.
[2] Epi25 Collaborative. (2019). "Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals." American Journal of Human Genetics, 105(2), 267–282.
[3] Tabrizi, S. J., et al. (2013). "Predictors of phenotypic progression and disease onset in premanifest and early-stage Huntington’s disease in the TRACK-HD study: analysis of 36-month observational data." Lancet Neurology, 12(7), 637–649.
[4] Kunkle, B. W., et al. (2019). "Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing." Nature Genetics, 51, 414–430.
[5] Glascock, J., et al. (2020). "Treatment algorithm for infants diagnosed with spinal muscular atrophy through newborn screening." Journal of Neuromuscular Diseases, 7(2), 97–100.
[6] Gupta, N., et al. (2021). "GUaRDIAN: Genomic Research and Disease Investigation in Advanced Networks-a collaborative Indian initiative for rare diseases." Genomics, 113(5), 2751–2760.
[7] Wang, J., et al. (2020). "Gene-based therapies for the treatment of epilepsy." Epilepsia, 61(8), 1523–1534.
[8] Jain, M., et al. (2022). "Mobile genomics units for rural India: An emerging model for genomic healthcare delivery." Journal of Public Health Genomics, 25(3), 129–136.
[9] Skirton, H., & Patch, C. (2013). "Genetic counseling in the era of genomic medicine: expanding roles and competencies." European Journal of Human Genetics, 21(6), 630–634.
[10] Popejoy, A. B., & Fullerton, S. M. (2016). "Genomics is failing on diversity." Nature, 538(7624), 161–164.
[11] Knoppers, B. M. (2014). "Framework for responsible sharing of genomic and health-related data." The HUGO Journal, 8(1), 3.
[12] Ministry of Science & Technology, Government of India. (2019). "The DNA Technology (Use and Application) Regulation Bill." Press Information Bureau.
[13] Botkin, J. R., et al. (2015). "Points to consider: Ethical, legal, and psychosocial implications of genetic testing in children and adolescents." American Journal of Human Genetics, 97(1), 6–21.
[14] Ormond, K. E., et al. (2018). "Genetic counseling globally: Where are we now?" American Journal of Medical Genetics Part C, 178(1), 98–107.
[15] Manolio, T. A., et al. (2017). "Implementing genomic medicine in the clinic: the future is here." Genetics in Medicine, 19(7), 717–722.
[16] Topol, E. (2019). Deep Medicine: How Artificial Intelligence Can Make Healthcare Human Again. Basic Books.
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  • APA Style

    Gupta, A. (2025). Public Health Genomics in Neurological Disorders: A Call for Early Detection and Equitable Access. Clinical Neurology and Neuroscience, 9(4), 69-72. https://doi.org/10.11648/j.cnn.20250904.13

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    ACS Style

    Gupta, A. Public Health Genomics in Neurological Disorders: A Call for Early Detection and Equitable Access. Clin. Neurol. Neurosci. 2025, 9(4), 69-72. doi: 10.11648/j.cnn.20250904.13

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    AMA Style

    Gupta A. Public Health Genomics in Neurological Disorders: A Call for Early Detection and Equitable Access. Clin Neurol Neurosci. 2025;9(4):69-72. doi: 10.11648/j.cnn.20250904.13

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  • @article{10.11648/j.cnn.20250904.13,
      author = {Aayushi Gupta},
      title = {Public Health Genomics in Neurological Disorders: A Call for Early Detection and Equitable Access},
      journal = {Clinical Neurology and Neuroscience},
      volume = {9},
      number = {4},
      pages = {69-72},
      doi = {10.11648/j.cnn.20250904.13},
      url = {https://doi.org/10.11648/j.cnn.20250904.13},
      eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.cnn.20250904.13},
      abstract = {Neurological disorders constitute a major contributor to global morbidity and disability, with both monogenic diseases (e.g., spinal muscular atrophy) and complex polygenic conditions (e.g., Alzheimer’s disease) presenting significant diagnostic and therapeutic challenges. Advances in public health genomics-the application of genomics to improve population health-offer unprecedented opportunities for early detection, risk prediction, and targeted interventions in the context of neurological disease. This manuscript aims to examine the role of public health genomics in enhancing the diagnosis, prevention, and management of neurological disorders at the population level. It critically evaluates how genomic tools, including next-generation sequencing, polygenic risk scoring, and population screening, can be integrated into public health systems to enable precision medicine approaches. Particular emphasis is placed on the potential of genomics to reduce diagnostic delays, inform individualized treatment strategies, and facilitate pre-symptomatic interventions. Despite these advances, the equitable implementation of genomic technologies remains constrained by a range of barriers, including limited infrastructure, insufficient genomic literacy, ethical concerns regarding data use and consent, and sociocultural sensitivities-especially in low- and middle-income countries (LMICs). Through case studies and comparative policy analysis, this paper identifies key challenges and enablers in translating genomic science into equitable public health practice. We propose a framework for the integration of genomics into national health systems that includes strategic investment in genomic infrastructure, capacity-building of healthcare professionals, development of ethical and regulatory standards, and community engagement to ensure cultural acceptability. Ultimately, the incorporation of genomics into public health policy has the potential to transform the landscape of neurological care and reduce global health disparities if implemented with scientific rigor and a commitment to equity.},
     year = {2025}
    }
    

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