Genomics sequencing and testing are transforming the future of cancer care – we can now treat people with cancer in a more personalised way


Genomics can offer truly personalised care for patients with cancer but a lack of investment and foresight means they are losing out on this opportunity, writes Professor Stephen Finn, Associate Professor, Consultant Pathologist and Principal Investigator at Trinity College Dublin and at St. James’s Hospital. Professor Finn is also a member of the Irish expert panel for the FutureProofing Personalised Health Index, which is supported by Roche.

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We learned a long time ago that there will be no singular ‘cure’ for cancer, no one silver bullet that will stop this deadly disease. Yet cancer treatment has improved dramatically in recent years.

One of the many new approaches yielding impressive results is tumour-agnostic therapy, where a treatment targets a specific genetic mutation in the DNA of a cancer, rather than simply a specific tumour type or stage of cancer. By using sophisticated genomic testing to help identify or sequence the DNA alterations that may be driving the growth of a specific tumour, we can learn the tumour’s unique ‘genetic fingerprint’ and then target it specifically. Furthermore, by sequencing the patient’s germline DNA in parallel we can optimize and clarify tumour genomics.

Genomics can help us treat everyone with cancer in a personalised way. It essentially makes every disease a rare disease – your treatment is tailored to you and your tumour, and not just a ‘cookie-cutter’ or one-size-fits-all approach.

Yet Ireland has been slow to embrace the potential of genomics. In contrast, other countries, cognisant of the role it will play in our future healthcare, have poured funding into this area. The discrepancies across countries were highlighted by therecently, which analysed the health systems of 34 international countries to evaluate how healthcare is progressing towards a more personalised, digital and data-driven standard. Ireland was ranked 19th overall.

One example of prioritising funding in genomics is the 100,000 Genomes Project in the UK, which is focused on rare diseases, some common types of cancer, and infectious diseases. In the United States, many hospitals are now sequencing each patient’s tumour and in some institutions the patient’s germline DNA in parallel as a fundamental step in their diagnosis and treatment.

While the standard of care tumour genomic sequencing is available to Irish patients there is an urgent need for more comprehensive diagnostic assessment to allow patients access to the newest and most promising therapies earlier including those available through clinical trials. In many cases, a drug may be available but oncologists do not know if a patient will be suitable for it because they do not have access to the necessary molecular information about the patient’s cancer. As this field grows, we will see more and more patients lose out on groundbreaking treatments that could extend or even save their lives.

The National Cancer Control Programme has been pivotal in reacting to patients’ needs and securing sanction for innovative treatments as quickly as possible. But what we are missing is a national, cohesive strategy in cancer genetics and genomics. What has been developed has been in response to the broader national need, seeking to meet the requirements of the service in real time. And what it lacks is the bigger picture outlook, looking to the longer-term so that we futureproof cancer care for generations to come.

Ireland must be proactive and not reactive when it comes to genomic testing, because it is about to completely transform cancer care. By giving patients more opportunities for genetic sequencing and testing, they will be able to participate in clinical trials for cutting edge therapies. But this will require State funding, and the HSE and research groups need to collaborate closely on this. We need to integrate research and funding into service delivery so that when we extract genomes used for testing, everything draws together cohesively. The National Cancer Registry has done phenomenal work in helping us build a picture of what cancer incidence in Ireland looks like, but by linking registry data and genomic data, we can ultimately take better care of people with cancer. A good example of a great initiative and superb effort for the future of genomics in Ireland is the SFI Centre for Research Training in Genomics Data Science in Galway. In collaboration with six universities across Ireland, it aims to train a new generation of highly skilled genomics data scientists.

This shows the importance of why Ireland must focus on building genetic and genomic capabilities among our own workforce, infrastructure and services. Currently we are forced in many cases to outsource testing to foreign jurisdictions, which is detrimental to the long-term development of Irish expertise in this crucial field.

Integral to all of this will be a national reporting system for these test results. Adequate data storage facilities and enhanced IT infrastructure will be required in order for this to work properly and for it to be secure to protect patient confidentiality appropriately. The Covid-19 pandemic and vaccination rollout has shown that lack of a unique patient identifier number is a major Achilles heel in our health service – this would not only be relevant but simply essential when it comes to genetic and genomic  testing.

The Covid-19 pandemic has shown philosophically that we as a country can deal with a problem, where there’s a will and the necessary investment. When the state puts its mind to something that is needed it can be done, and almost overnight. The potential for individualised treatment that a genomics approach offers is enormous. However, it will require significant investment, not just in terms of resources, both human and infrastructural, but also from a system-wide IT perspective. This ship is moving forward, with or without us. Ireland needs to be on board.

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