Genomic sequencing is being made available to 2,000 patients with specific medical conditions during the period 2016 to 2019, in tandem with their usual care.
Particular patients being treated at The Royal Melbourne Hospital, The Royal Children’s Hospital, The Peter MacCallum Cancer Centre, Austin Health and Monash Health are being invited to participate.
Through 11 projects over four years, we are investigating whether genomic sequencing can 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 (in some cases acutely) 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 working together to offer genomic sequencing to patients fitting specific criteria, 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.
Key findings from this demonstration phase show that patients get quicker, more accurate diagnosis and more personalised care when sequencing is delivered within healthcare. Importantly, we found that, for certain medical conditions, genomic sequencing can replace other tests – resulting in better use of precious healthcare dollars.