In recent times, significant strides in sequencing technology have rendered panel-based screening highly efficient and cost-effective. This progress is attributed to targeted enrichment of specific genes, followed by massively parallel sequencing, commonly known as next-generation sequencing (NGS).
The clinical integration of NGS gene panels has proven instrumental in evaluating the hereditary risk of cancer. This approach enables the identification of patients harboring germline mutations, delivering substantial health advantages to both individuals and their familial network. Approximately 60 genes are recognized for imparting a heightened lifetime risk of specific cancers. The data derived from gene panels contributes to cancer prevention, surveillance, and treatment planning. Notably, gene panel testing has exhibited a twofold increase in the detection rate of mutations, regardless of whether patients undergo cancer site-specific panels or more comprehensive pan-cancer panels. Consequently, gene panels have emerged as a pragmatic tool for identifying genetic variants associated with cancer risk.
Moreover, the landscape has evolved with the removal of patents on BRCA1/2 for diagnostic testing, coupled with a reduction in the cost of sequencing technologies. This cost reduction is exemplified by the Color Hereditary Cancer Test, which analyzes 30 genes at a price point of USD 250. The diminished financial barrier has widened access to gene panels in laboratories. Presently, diverse protocols are available for designing and capturing panels of genes and other regions of interest (ROIs). Additionally, companies providing library preparation kits offer user-friendly online tools to facilitate the design of hybridization probes or PCR oligos for enriching the desired ROIs.
A notable advantage of gene panels lies in their capability to identify mutations in hereditary cancer risk genes, regardless of whether these mutations align with the personal and family history reported by the patient. The availability of expansive gene panels has resulted in their increased use across various cancer applications. Noteworthy studies conducted by Parsons et al. in 2016 and Scollon et al. in 2017 have highlighted the evolving landscape of hereditary genetic testing. While such testing was not previously routine for children, it is now recognized that around 10% of childhood cancers stem from germline mutations in genes shared with adult cancers (such as BRCA1, BRCA2, PALPB2, CHEK2, TP53, MSH2, VHL) and those specific to children, including DICER1, WT1, REST, CREBBP, ABCB11, GPC3/4. The expanding benefits of gene panels are anticipated to propel market growth further.
Covered Aspects:Report Attribute/Metric | Details |
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Segment Outlook | Technique, Design, and Region |
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