Teams of doctors, genetic counsellors, health service researchers and scientists will work together over the next two years to offer genomic sequencing to patients with particular medical conditions and evaluate its impact.
Patients fitting specific criteria will be invited by their doctors to have genomic sequencing at the same time as the usual approaches to diagnosis and care. The outcomes of each approach are then compared, to understand how genomic sequencing can be most usefully applied by doctors for the benefit of patients.
The disease areas were selected by experts as those where genomic sequencing is most likely to benefit patients and their care, in comparison with current approaches. In addition, this range of very different conditions, spanning adult and paediatric medicine, allows optimal evaluation of genomics’ effectiveness broadly in practice.
This work provides real-world opportunities to:
- build the expertise of healthcare professionals
- collect evidence for the optimal use of genomics
- test and implement information management systems
Immunology
It is anticipated that genomic sequencing will assist adults and children with immune disorders through quicker and more accurate diagnosis, potentially making a huge impact on management and treatment of these illnesses.
Patients with immune conditions often remain undiagnosed for many years. It is believed that clearer diagnosis will result in the most appropriate treatment being commenced sooner, as well as better identification of relatives at risk.
This project will determine if genomic sequencing of patients with suspected immune disorders improves diagnosis and care. The specific conditions are primary immunodeficiencies (PIDs), systemic autoinflammatory disorders (SAIDs) and hereditary angioedema (HAE).
Dilated cardiomyopathy
Dilated cardiomyopathy reduces the heart’s pumping function – in severe cases resulting in heart failure and death. Although the cause often isn’t known, up to one-third of dilated cardiomyopathy is inherited.
It is envisaged that for many dilated cardiomyopathy (DCM) patients, genomic sequencing will provide a more exact diagnosis from a single test, and also lead to the identification of other at-risk family members who may benefit from early intervention.
Improved detection of inherited cardiac conditions should prevent death and disability.
Congenital deafness
Congenital deafness is hearing loss present at birth. More than 50% of congenital deafness is thought to be genetic. Earlier accurate diagnosis for these children can better guide medical management, particularly for forms of deafness that can also cause other health problems later in childhood.
Newborns from across Victoria (born after 1 January 2016) diagnosed with permanent hearing impairment in both ears of moderate or greater severity will be offered genomic sequencing in addition to their usual care.
This is the first study internationally to combine genomic information with clinical, educational and health economic outcomes – from diagnosis in infancy through to primary school (through the VicCHILD databank).
Complex needs
Genomic sequencing will be offered to a group of infants and children who have complex medical problems likely to involve two or more body systems. Some of these children are acutely unwell. This is the first time that genomic sequencing will be offered to these patients as a first diagnostic test (rather than after other options have been exhausted).
It is anticipated that 30% to 60% of patients will receive a diagnosis from genomic sequencing. The project will investigate the impact of diagnosis for patient care and outcomes.
Complex medical conditions are rare but cause diverse and severe health effects. Most complex medical conditions have an underlying genetic basis, are lifelong and incurable.
Advanced cancer
Cancer usually arises through a number of genetic changes, which result in out-of-control cell growth and causes tumours to grow and spread. The latest medical approach to cancer involves treating patients based on the genetic changes present in the cancer (this is often called ‘personalised medicine’).
Genomic sequencing could assist patients with advanced cancer by identifying genetic changes that can help clinicians select the most appropriate therapy. Patients invited to participate in this project will include those with advanced lymphoma, as well as patients with solid tumours, such as lung cancer, melanoma (skin cancer), childhood cancers and rare cancers.