Genomic sequencing has now been provided to more than 3,720 patients with specific medical conditions over the past five years, in tandem with their usual care.
More than 3,720 patients have had genomic testing through Melbourne Genomics Health Alliance. Recruitment for all clinical projects is now complete and all patient reports have been finalised.
These milestone represent a culmination of the hard work and dedication of all our Alliance members to create a genomics-ready healthcare system.
Patients were tested for improved diagnosis of their inherited or ‘rare’ genetic condition, to better understand the cause of their cancer and inform treatment, while a third group had samples tested to track transmission of superbugs in hospitals. Melbourne Genomics is assessing the impact on patient care to identify when genomics brings benefit and when current care is best.
Patients undergoing treatment at The Royal Melbourne Hospital, The Royal Children’s Hospital, The Peter MacCallum Cancer Centre, Austin Health and Monash Health were invited to participate.
Through 11 projects over four years, we investigated whether genomic sequencing could provide:
Quicker and more accurate diagnosis, leading to better care for:
- adults and children with defects in their immune systems
- a genetic heart condition that, if left untreated, can result in heart failure
- infants and children who are unwell (some in intensive care) due to a complex medical problem likely to involve two or more body systems
- adolescent and adult patients with complex neurological and neurodegenerative disease
- the genetic causes in infants diagnosed shortly after birth with severe deafness
- adults and children with genetic kidney disease
More precise diagnosis and treatment for:
- better identification and control of superbugs among Victoria’s most vulnerable patients
- better understanding of the cause of a patient’s bone marrow failure, enabling more personalised medical care and improved identification of relatives at risk
- better understanding of the cause of multiple abnormalities in babies who die in utero or early in infancy
Teams of doctors, genetic counsellors, health service researchers and scientists from across the Alliance are continuing to work together to evaluate the impact of genomics on medical care.
This work builds upon Melbourne Genomics’ Demonstration Project (2014-2015), in which 315 patients with one of five medical conditions were provided genomic sequencing.