THE IMPACT OF GENOMIC SEQUENCING ON EARLY DIAGNOSIS OF RARE DISEASES

Authors

  • Dr. Aisha Khan Department of Genetics, University of Health Sciences, Lahore, Pakistan Author
  • Prof. Imran Raza Institute of Biomedical Sciences, University of the Punjab, Lahore, Pakistan Author
  • Dr. Emily Wigby Medical Genome Initiative, National Center for Genomic Medicine, USA Author
  • Dr. Gabriel Schobers Department of Genomic Medicine, Genomic Medicine Institute, Germany Author

DOI:

https://doi.org/10.71465/jhmri62

Keywords:

genomic sequencing, rare diseases, early diagnosis, , whole-exome sequencing, whole-genome sequencing, diagnostic yield

Abstract

Genomic sequencing, encompassing whole-exome sequencing (WES) and whole-genome sequencing (WGS), has revolutionized the early diagnosis of rare diseases by significantly reducing diagnostic delays and enhancing diagnostic yield. This article reviews recent advancements in genomic technologies, their clinical adoption, and their impact on patient outcomes. Notable diagnostic yields have reached 25–50% in pediatric cohorts, with early implementation in neonatal and critical care settings yielding substantial reductions in morbidity and healthcare costs. We outline current challenges—including accessibility, cost, and ethical considerations—and present future directions for integrating genomic strategies into healthcare systems worldwide. We conclude with recommendations to optimize early diagnosis pathways through genomic sequencing integration.

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Published

2023-09-30

Issue

Vol. 1 No. 3 (2023): Journal of Health, Medical Research and Innovations

Section

Articles

License

Copyright (c) 2023 Dr. Aisha Khan, Prof. Imran Raza, Dr. Emily Wigby, Dr. Gabriel Schobers (Author)

Creative Commons License

This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License.

All articles published in the Journal of Health, Medical Research and Innovations are distributed under an open access license. Authors retain copyright and grant the journal the right of first publication. The published content can be freely accessed, shared, and reused for non-commercial purposes, provided proper citation is maintained and the original work is not altered.