Prof Bernie Pope on the future of cancer genomics with Open Access Government
Our A/Director of Human Genome Informatics (HGI) at BioCommons, Prof Bernie Pope, was recently featured in an interview with the international policy publication Open Access Government. As a Co-Lead of the Cancer Community within the Global Alliance for Genomics and Health (GA4GH), Bernie was asked for his perspective on how the field of cancer genomics is evolving.
Bernie and his GA4GH Cancer Community Co-Leads, EMBL-EBI’s Dr Zinaida Perova and the University Health Network’s Dr Benjamin Haibe-Kains, explained the importance of GA4GH, which creates the technical standards and policy frameworks that allow researchers across the world to share sensitive genomic data ethically and effectively. This sharing of data is essential to understand complex and diverse types of cancer, especially for rarer types. As it is challenging for individual institutions to accumulate large enough datasets on their own, aggregating this data is highly beneficial for identifying meaningful insights.
An example of a large collaboration is the Pan-Prostate Cancer Group (PPCG), an initiative Bernie helps to lead, focusing on whole genome sequencing for primary and metastatic prostate cancer. One of the goals for this group is to answer important clinical questions, such as identifying which patients need intensive treatment early on versus a watchful waiting approach to avoid overtreatment and associated morbidities.
Gaps in our knowledge are being enriched by combining data from different techniques with cancer genomics, addressing the limitation that Bernie identifies in the interview, of taking a “static snapshot” at a single point in time for a collection of cells that are, in reality, exhibiting dynamic behaviour.
While genomics technology may be limited when used in isolation, in combination with other ‘omics’ technologies our understanding continues to improve.
“Multiomics is contributing to this by enabling us to combine data from genomics, proteomics, metabolomics, lipidomics, and transcriptomics to gain a better understanding of dynamic cellular behaviours.”
Beyond multiomics, the interview highlights the promise and complexity of exciting new technologies for early cancer detection like circulating tumour DNA (ctDNA). This minimally invasive blood test can detect early-stage disease and even cancer recurrence much earlier than traditional scans. However, as Bernie notes, there are further considerations that come with early detection - the benefits of being able to treat the disease at that stage versus the anxiety a patient may experience with the knowledge of their cancer, necessitating better individual risk assessments or ‘precision medicine’.
It is this international leadership and perspective into the current and future states of cancer genomics that directly informs the work of the HGI program at BioCommons. Under Bernie’s direction, we are coordinating the GUARDIANS (human Genomics Uplift for Australia through Research Data Infrastructure At National Scale) project, which aims to accelerate human genomics and related omics research in Australia through the development of world-class digital infrastructure.
Read the full interview in Cancer genomics and global collaboration
