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Genomics is revolutionizing biomedical research on a global scale. While many countries are expanding the technology’s applications, Ireland is lagging behind in the application of modern genomics. Cathal Seoighe, the scientific director of the SFI Centre for Research Training in Genomics Data Science, and colleagues, have published an Open Letter on HRB Open Research, where they explain how Ireland can catch up and develop an integrated model for genomics in Ireland. 

As peer reviewer, Edward Abrahams, President at Personalized Medicine Coalition, US, commented: “The case for integrating genomics and personalized medicine into the Irish health system, according to the authors, is clear…We have our work cut for us, but this article presents the case why it is worth doing.”

In this Q&A, Cathal explains why genomics and clinical genetics have fallen behind other countries and shares his recommendations for a national genomics health strategy, and how this could benefit patients and the public.

How is genomics transforming biomedical research, medicine, and healthcare?

I take a broad interpretation of genomics and understand it to include the range of techniques that have been enabled by the revolution in sequencing technologies. More generally still, I would include all the genome-scale approaches applied in contemporary molecular biology – what some people would refer to as omics. Under this broad definition, I don’t think there is any doubt that genomics has greatly increased the pace of discovery across many areas of biomedical research. The defining tendency of genomics is to be all-encompassing and the capacity to generate many types of genomic data from large numbers of samples has enabled a much more complete picture of the properties of cells and whole organisms and their sources of variability.

More than twenty years ago the sequencing of the human genome heralded this comprehensive approach to understanding how life works at a molecular level. Since then, there has been a quiet march from the genome era to the era of many genomes, with large numbers of individuals and large numbers of cells within individuals subjected to many types of genomic analyses. The advent of this era has taken genomics from being a major engine of biomedical discovery to becoming an important feature within medicine and healthcare, with the potential for far greater impact in the near future.

Why has Ireland fallen behind?

Ireland has yet to develop a national strategy for genomics. We are not alone in this respect, but several of the countries that are more advanced in the implementation of genomics have had very active involvement of government, often acting as a catalyst and a coordinator within public-private partnerships. Genomics has some characteristics that indicate a benefit from government involvement.

• The data generated in human genomics come with some significant bioethical and data protection considerations. These include the need for policies and mechanisms around the handling of incidental findings that are made from genomics data as well as intrinsic identifiability of the data.
• Large-scale implementation of genomics in healthcare is still expensive. Even in cases in which generating these data would lead to cost-savings in the long-term, the question of how the cost of data generation should be paid will be treated differently depending on the economic model underlying the health system.
• The Irish model is a hybrid of public and private systems that overlap in complex ways. It is challenging to undertake the task of integrating new ways of doing things into a system that needs a radical overhaul. A chronic crisis in the Irish health system has made it difficult to be ambitious about adopting technological advances.

How can Ireland improve its contributions to genomics research and catch up with other countries?

Ireland has researchers who make important contributions to international genomics research. What Ireland lacks is a national genomics initiative, which probably results in lower visibility for genomics research here and hampers our capacity to integrate genomics into healthcare and other areas in which it could have an impact. That said, there have been some advances in the application of genomics outside of healthcare, for example in agricultural animal breeding.

Having fallen behind in the early phases of the international advances in genomics creates an opportunity to be forward-looking and to think about where the implementation of genomics and personalized medicine might be in the medium term and how we might chart a course to getting there. It is important to include planning for how to implement genomics during the impending reform of the Irish healthcare system. Ultimately, the successful integration of personalized medicine into the healthcare system in Ireland will require effective collaboration of everyone involved, including government, clinicians, scientists, health economists, patient advocacy groups and many others.

There are elements of the genomics research community that are beginning to take the initiative in implementation of various aspects of the capacity building and implementation agenda for genomics in Ireland. This, combined with a greater engagement with patient advocacy groups and other potential beneficiaries, should help to build pressure for a coherent national strategy for genomics. There are also excellent Irish researchers, based outside Ireland, who are making world-leading advances in the implementation of genomics. Many of these researchers are committed to contributing to the development of the sector in Ireland. Through engagement with local researchers, in a way that takes account of the realities of the Irish context, they have the potential to make an enormous contribution to the success of genomics in Ireland.

How would the public and patients in Ireland benefit from this?

There are already clear examples of diseases where the integration of genomics leads to better outcomes for patients. This is true in the case of cancer patients, with several treatment indications linked to genomics-based companion diagnostics. Although this may currently represent a minority of patients, genomics can also yield other clinically relevant insights for cancer, such as improved prognosis, which can help in treatment planning. Genomics has shown success in the diagnosis of rare diseases. Although, individually, these diseases affect small numbers of individuals, collectively they affect a substantial proportion of the population. Genomics is now also increasingly being applied to assess the risk of complex, polygenic disorders.

Further advances are needed to support the broader applicability of these methods, in particular to individuals from all population groups, but these methods are likely to make an important contribution to helping to understand disease risk and guiding public health interventions (e.g. enhanced screening) to individuals at greatest risk of disease. This could lead to substantially improved outcomes for patients, when diseases are identified early, not to mention economic savings that result from early disease detection.

What impact do you hope your article will have and what steps do you hope will be taken by the Irish Government?

I hope our article can be part of what catalyzes the government to adopt an ambitious approach to genomics in Ireland. Unfortunately, our timing was not great – the article arose from a roundtable discussion on genomics, which we organized in the beginning of 2020. We first submitted a letter to the Irish department of health shortly after the meeting. This letter contained the seeds of what became the article. Just as we sent the letter, the first cases of SARS-Cov2 were arriving in Ireland and the priorities of the department of health pivoted, understandably, to dealing with the pandemic.

As a researcher, what does open research mean to you? Why did you decide to publish your Open Letter on an open research and open peer review platform?

Where better to publish an open letter than on an open research forum? The fact that the letter has been transparently peer-reviewed should help reinforce the message we would like to send to the Irish government.

As a computational biology researcher, openness has been a byword in my research area for a long time. The commitment to open source code and to data sharing has been of existential importance in my discipline, and I think has advanced science generally. It is good to see ongoing efforts to find new models that may lead to improvements in how science is evaluated and distributed.

Read the Open Letter to learn about the eight recommendations Cathal and his co-authors have made for a national genomics health strategy.