Emma Broadbent's story illustrates the challenges of diagnosing rare diseases, as her condition wasn't identified through exome sequencing despite extensive testing. This scenario reflects the broader issue that although exome sequencing has helped some, it often leaves many cases unresolved. Given that 80% of rare diseases have genetic roots, the inadequacy of examining only the exome is evident. Whole-genome sequencing offers a promising alternative, potentially identifying abnormalities throughout the entire genome, including non-coding regions, which are equally vital in understanding genetic diseases.
Whole-genome sequencing (WGS) can capture abnormalities in both exome and non-coding regions of the genome, greatly enhancing diagnostic capabilities for rare diseases.
The challenge remains that while exome sequencing has improved diagnostics, it still leaves around 75% of rare disease cases unresolved, highlighting the need for more comprehensive testing.
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