Can Genomics Solve Rare Diseases?

Experts discuss why half of rare disease cases remain unsolved and how advanced genomics could improve diagnostic yield

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1

Up to half of rare disease cases remain unsolved due to limitations of traditional diagnostic approaches.
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Short-read whole genome sequencing often fails to detect complex structural variants associated with rare diseases.
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Multidisciplinary teams enhance rare disease diagnosis by collaborating on clinical phenotypes and genomic data interpretation.
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Sample quality and accurate phenotyping are critical for improving diagnostic yield in rare disease testing.
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Next-generation sequencing has advanced rare disease diagnostics, yet over half of cases still go unresolved.