Melbourne Genomics studies showed how genomics helps real patients in real time.
From 2016-2020, we compared genomic testing with usual care for patients experiencing cancer, childhood syndromes, neurological diseases, kidney disease, cardiomyopathy, congenital deafness and immunological conditions. Genomic testing was also conducted on antibiotic-resistant microbes (superbugs) to find and break chains of transmission.
We examined whether a genomic test would provide a more informative result than other kinds of tests, and whether patient care would change because of this result.
Key results from our program
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Overall
19x more patients received an informative result from genomic testing than from usual care.
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Cancer and rare diseases
42% of cancer and rare disease patients received an informative result through genomic testing. 1 in 2 of those patients had a change in care because of their genomic result.
Without genomic testing, only 5% of patients would have received a result.
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Babies with genetic conditions
Rapid genomic sequencing delivered results up to 10x faster for critically ill babies.
More than 1 in 2 of those babies received a diagnosis. 1 in 2 babies diagnosed through genomics received more precise care.
Babies needed less time in intensive care units, reducing costs by $543k. Children with complex conditions required 4x fewer invasive tests, saving at least $19k per diagnosis.
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Immunological conditions
5x more patients received a diagnosis through genomic testing.
1 in 2 of those diagnosed have had life-saving treatment or targeted therapies.
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Hearing loss
Finding the cause of severe hearing loss in babies is tripled with genomic testing.
Genomic sequencing also enabled children to get tailored care plans, eliminating unnecessary interventions.
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Genetic kidney disease
1 in 2 patients received informative results from genomic testing.
1 in 4 who got a result then received more precise care.
Genomic testing reduced the need for invasive tests for children with glomerular disease, with a cost savings of $3,320 per diagnosis.
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Bone marrow failure
2 in 5 patients received a more accurate diagnosis for their condition.
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Superbugs
Superbugs are antibiotic-resistant microbes. 33% more superbug transmissions were detected through genomic sequencing of microbes.