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Future Frontiers: Multigene Panel Advancements in NGS-driven Cancer Genetic Testing

NextEdge Admin

27 Feb 2024

2 min 12 sec

Cancer, a complex disease influenced by both acquired and hereditary factors, has historically been subjected to gene-by-gene testing, focusing on high-risk individuals and prevalent mutations like BRCA1 and BRCA2. The advent of next-generation sequencing (NGS) in clinical labs in 2010 revolutionized genetic testing by enabling simultaneous sequencing of multiple genes, significantly reducing time and costs. This innovation led to the emergence of multigene panel testing (MGP), where various genes are tested in a single panel, expanding diagnostic options beyond targeted testing.

While MGP offers advantages in targeted analyses and high-depth sequencing for known genes, it has drawbacks, including potential overestimation of clinical implications and increased identification of variants with uncertain significance. Whole-exome sequencing (WES), on the other hand, provides a comprehensive analysis of the entire protein-coding genome, surpassing MGP in diagnostic rates and minimizing uncertainties.

Despite their merits, both MGP and WES face challenges such as variant uncertainty and incidental findings, necessitating careful consideration of the clinical context. MGP excels in scenarios where specific genes are known, while WES is indispensable when identifying genes is challenging.

The evolution of genetic testing, facilitated by NGS, has transformed cancer diagnostics, enabling personalized patient care through surveillance, prevention, and early interventions. Future advancements in genetic testing should be guided by a nuanced understanding of its implications, ensuring optimal utilization in diverse clinical settings.