Genomics and Precision Health

Many approaches to cancer prevention, early detection, and treatment have been designed based on an “average” person. However, people are different, and what works well for one person may not work for another. 

Our research aims to integrate individual and population-level genomic, health, and demographic information for successful precision health: tailoring the right intervention and support to the right population at the right time. Key examples include risk-based cancer screening and early detection. We also aim to help harness novel genomic technologies (such as multi-cancer detection tests) for improved early detection of cancers. 

To help effectively and sustainably optimise cancer control through genomics and precision health, we bring together expertise in genomics, epidemiology, and innovative analyses of large-scale data, with strong collaborative links to Australian and international researchers.

Predicting cancer risks and the Australian Cancer Risk Study

Our team is building and evaluating cutting-edge cancer risk predictions for potential future risk-based cancer control interventions. In particular, we lead the Australian Cancer Risk Study, an innovative program to harness the potential of genomics for improved risk prediction and early detection for the four most common cancers in Australia: breast, prostate, melanoma, and colorectal cancers. In collaboration with a multidisciplinary team of world-leading researchers, consumers, health professionals, and policy stakeholders, the Australian Cancer Risk Study is developing evidence-based recommendations to help reduce the burden of cancer. This research program is funded by a $3M grant from the Australian government’s Medical Research Future Fund (MRFF), and has also generated a new lasting cancer-focused resource of Australian genomic data within the 45 and Up Study. We are also conducting additional work on prostate cancer and on potential approaches to population-wide risk assessment, as part of A/Prof. Julia Steinberg’s Cancer Institute NSW Career Development Fellowship.

Evaluating innovative multi-cancer early detection tests

Multi-cancer detection (MCD) tests have the potential to identify people with a wide range of cancers who do not have symptoms yet, by using a single test that snapshots many different cancer biomarkers. The technology is rapidly evolving, and the potential benefits could be game-changing. Our team leads MCD Spotlight, a $3M MRFF-funded collaborative research program on the potential of innovative MCD tests in Australia. This work brings together researchers across many Australian and international institutions, health professionals, and consumers. It aims to establish evidence-based recommendations to help maximise the potential of MCD tests for patient-friendly and more effective early detection of cancers in Australia.

Uncovering cancer journey patterns

Leveraging large-scale health data, our team investigates patterns in cancer survival, care, and pathways to diagnosis. We are particularly interested in potential inequities and in opportunities for tailored interventions to improve health outcomes. For example, we have completed a study of cancer survival in NSW from 1980 to 2019, which found significant and increasing survival disparities by socioeconomic status. This work emphasises an urgent need for targeted actions, to ensure all Australians benefit equitable from the latest advances in cancer research and care.

Calculating the costs of cancer

The costs of cancer care vary significantly by cancer type and stage at diagnosis. Our team analyses a wide range of cancer costs, including direct costs to the health system, out-of-pocket costs to patients and their families, and effects of cancer on people’s income and employment. This work integrates information from different in-depth linked health datasets across NSW and Australia. The results provide vital information to improve future support for people with cancer, and to support the evaluation of existing and new cancer control interventions.

Forecasting future cancer burden for biomarker-based treatment

Forecasts of the future cancer burden are crucial to inform planning, policy, and practice for precision health, including estimates of burden in subgroups targeted by specific interventions. In particular, the rise of genomic medicine has led to new cancer treatments based on the molecular features of the tumour (so-called “pan-tumour biomarkers”) rather than its tissue of origin. Our team leads work to estimate the numbers of future cancer patients with selected key pan-tumour biomarkers. As part of this work, we also estimated cancer prevalence (i.e. the number of people alive who had been diagnosed with cancer previously) in Australia to the 2040s, for all solid cancers combined and for over 20 different cancer types. The published estimates are freely available online (here, under the “Pan-tumour biomarkers” tab), including for all cancers regardless of biomarker status.