New genetic testing guidance could improve patient diagnosis worldwide
New guidance co-led by University of Otago researchers could help more people with suspected inherited diseases receive a clear genetic diagnosis.
An international study co-led by researchers from the University of Otago could enhance genetic testing and improve patient diagnosis for inherited diseases worldwide. The research, published in Genome Medicine, offers new guidance on using RNA testing to determine if genetic changes likely cause disease. This could help clinicians better understand the impact of DNA variants on RNA splicing, a process that instructs cells to produce proteins.
By examining RNA, certain genetic variants can be identified that interfere with splicing, potentially preventing proper gene function. The team reviewed over 41,000 genetic variants across 5,458 genes from published studies, finding that well-designed minigene assays provided results that aligned closely with RNA tests from patients.
In 89% of cases, both methods showed complete or high agreement. However, high-throughput tests, which assess many variants simultaneously, still lacked sufficient reliability for direct clinical use. The study also revealed that results from minigene testing can enhance predictions made by SpliceAI, an AI tool predicting whether variants disrupt RNA splicing.
Researchers established thresholds to help laboratories differentiate between variants likely to cause little or significant disruption, supporting the use of this evidence within clinical laboratories' classification of genetic variants. Ultimately, these findings could improve accuracy in variant classification, facilitate earlier intervention, and increase the number of patients receiving a genetic diagnosis.
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