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.