The clinical interpretation of genomics data has become a key methodology in genomic diagnostics and the delivery of accurate and timely patient reports.
The bioinformatics group at Randwick genomics has designed and implemented an accredited clinical diagnostic genomic analysis application (GAIA) – a comprehensive web-based annotation, filtration and visualization platform. It provides variant prioritization, data storage and quality control of data from panels/exomes/genomes.
GAIA has enabled the provision of 7,724 patient reports. This includes 1800 definitive results for patients with rare disease or prenatal diagnoses, and 3075 research reports. GAIA has facilitated the identification of 29 novel genes in neurocognitive and other Mendelian disorders. The creation of a robust, easy to use and rapid genomic pipeline that can deliver diagnoses within minutes of use improves access to our lifechanging clinical genetics services.