Genomic Sequencing in Precision Medicine: Applications, Interpretation and Limitations
Öz
Genomic sequencing (GS) has become a cornerstone in precision medicine (PM), facilitating the identification of genetic variants linked to disease susceptibility, diagnosis, and treatment customization. Leveraging next-generation sequencing technologies, including whole-exome sequencing (WES) and whole-genome sequencing (WGS), GS provides unparalleled insights into genetic underpinnings of rare diseases, cancers, and multifactorial conditions. WES focuses on protein-coding regions, efficiently identifying pathogenic variants, while WGS offers comprehensive genomic coverage, enabling the detection of structural and non-coding variants. Despite its transformative potential, GS faces limitations such as variant interpretation challenges, lack of exhaustive annotation for non-coding regions, and variability in clinical significance assessment. The integration of variant databases like ClinVar and GnomAD, alongside machine learning-driven annotation, has improved variant prioritization and clinical applicability. However, the implementation of GS in clinical practice remains hampered by knowledge gaps among healthcare providers and inconsistencies in defining actionable mutations. Emerging techniques such as spatial transcriptomics and single-cell genomics, coupled with multi-omics data integration, promise to address these challenges, enhancing the precision and utility of GS in PM. This review highlights GS's clinical applications, including early disease risk detection, targeted therapeutics, and oncogenomic advancements, while addressing its interpretive and operational barriers. Future directions emphasize technology innovations and interdisciplinary strategies to maximize GS's clinical impact, positioning it as a critical tool in the era of personalized healthcare.
Anahtar Kelimeler
Precision Medicine, Next Generation Sequencing, Rare Diseases, Oncogenomic, Spatial Transcriptomics
Destekleyen Kurum
This review received no specific grant from any funding agency in the public, commercial, or not-for-profit sectors.
Etik Beyan
Ethical approval was not required for this study as it is a review article that does not involve human participants, animals, or sensitive data.
Teşekkür
There are no acknowledgements.
Kaynakça
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