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Childhood syndromes

Melbourne Genomics' first clinical projects provided genomic sequencing to 315 patients of The Royal Melbourne Hospital and The Royal Children's Hospital. Our key findings regarding the Childhood syndromes project were:

Young children with features suggestive of a single gene disorder (n=145; 101 aged 0-2 years; 44 aged 2+ years).

Overall, 7 times more diagnoses compared with usual care: rate raised from 8% to 54%

For patients aged 0-2 years, 5 times more diagnoses were made, at less than half the cost per diagnosis to the healthcare system.

For 28% of diagnosed patients, there was improved and more tailored medical care. 

Among diagnosed patients’ relatives, 13 individuals received a genetic diagnosis.