Defining the circulating genome of high-risk plasma cell disorders to improve risk stratification and clinical management
Background
Multiple myeloma is a bone marrow cancer that occurs at several sites within and sometimes outside the bone marrow.
Each year, it affects more than 2,000 Australians and has a survival of five years, although the timeframes for relapse can vary.
Notably, around 20% of newly diagnosed patients in Australia relapse within 1 year of starting treatment and die within 18 months.
These patients are not typically classified as treatment-resistant or high-risk at diagnosis, as per current multiple myeloma risk stratification guidelines (unmet need 1) and hence, receive the same therapy as standard-risk patients (unmet need 2).
It’s important to note that multiple myeloma is a genetically complex disease, with each patient’s disease sites containing unique genetic information (genomics).
About the Project
Dr Mithraprabhu and her team aims to overcome the challenges caused by the genetic complexity of multiple myeloma by using DNA obtained from the blood instead of a single-site bone marrow biopsy.
This approach will enable the project team to capture genetic information from all disease sites, providing a more comprehensive view.
Over the course of this 3-year project, the team’s goal is to establish a “circulating genome” of high-risk patients, which will help develop blood tests to screen for genetic factors associated with high-risk multiple myeloma.
By customising treatment based on individual genetic profiles, they aim to address critical gaps in current multiple myeloma treatment and improve genomic characterisation methods.
Impact
In the short term, the project will lay the groundwork for identifying high-risk multiple myeloma patients and determining genetic factors utilising a non-invasive approach that can be targeted with treatments. This will speed up research into high-risk multiple myeloma and demonstrate the feasibility of the team’s innovative genomic approach.
In the medium to long term, the team aims to develop cost-effective and time-sensitive blood tests to identify high-risk patients at diagnosis and monitor them in real-time.
By enrolling high-risk patients in clinical trials with targeted therapies, the team will be able to improve survival outcomes and reduce the need for invasive bone marrow biopsies.
Overall, the project will not only benefit multiple myeloma patients, but will contribute to reducing healthcare costs and improve accessibility to remote/regional patients.