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Ireland Outlines National Strategy to Streamline Access to Genomic Medicine

Cliffs of Moher

NEW YORK – Ireland has published a national strategy for accelerating genetic and genomic medicine, aiming to establish an office to provide oversight of the delivery of such services this year. The effort was announced in December by the Health Service Executive (HSE), which provides public health and social care services to everyone in Ireland. 

A program to educate both clinicians and patients about genomic medicine is also planned, and there will be efforts to train new clinical geneticists and to create a national test directory in 2023. The Irish Ministry of Health has budgeted €2.7 million ($3 million) in seed funding to get the effort rolling. 

The new strategy coincides with the launch of Genomics Data Infrastructure (GDI) Ireland, a separate project that will create a secure data infrastructure for Irish genomic and clinical data. GDI Ireland is partly funded by the EU, and part of a larger €40 million project to create the infrastructure necessary to realize the goals of the European 1+ Million Genomes initiative.

While the national strategy and GDI Ireland are not formally connected, organizers involved with both efforts say there will be opportunities for them to align. "[GDI Ireland] will allow us to engage with Europe and to access any new developments, which will be huge," said Deirdre McNamara, director of strategic programs at the HSE.

Participating in the initiative will also allow Irish clinicians to join 1+MG working groups, as well as to seek funding.

McNamara helped lead the discussions that led to the publication of the national strategy in December. Commencing last May, those talks involved dozens of experts and stakeholders from the clinical community in Ireland, as well as various advocacy groups. While genetic and genomic testing has existed in Ireland for decades, it has evolved in an unstructured way, McNamara said. Often clinicians send samples outside the country for testing, and the kind of testing one receives depends largely on the clinician in question, or if their institution is willing to pay for the test.

"We wanted to put a structured approach on all of that and drive it forward from a national perspective," said McNamara of the goals of the national strategy. HSE is currently sculpting an implementation plan based on the 76-page publication, but there are some clear goals set for 2023. These include the establishment of a national office for genetics and genomics that will provide oversight and a standardized approach to the delivery of services outlined in the strategy.

A national education and communication program will also be rolled out to raise awareness and literacy of genetics and genomics among patients and the public. A plan to support the recruitment, retention, education, and development of genetics and genomics professionals is also in the works.

Policymakers also intend to develop a national test directory to provide genomic services as part of routine care.

McNamara said that about 70 percent of genetic tests are currently run outside of Ireland, and that the government would like to "repatriate as much of that as possible." This will require the setup of several specialized, local laboratories, as well as a national center of excellence to provide high-complexity testing. She stressed that these ideas are being discussed at the moment.

The €2.7 million funding is just for initial activities, McNamara added, and more funding will be needed to realize the goals of the national strategy.

There is also a plan to create a genomic resource associate within the HSE that will help individuals navigate the system and obtain access to the testing they need. HSE calls this new role a GRÁ, the Irish word for love.

Testing, however, is just part of a patient's care. "It's the linchpin of a diagnosis, but also just one part of a patient's journey," McNamara said. "We want to make sure patients can access tests, but also that they can get treatment after that."

Gianpiero Cavalleri, a professor of human genetics at the Royal College of Surgeons in Ireland, said a national strategy was necessary to counter the ad hoc genetic testing care that exists in the country today.

"Some hospitals are willing to pay for genetic testing, others aren't, and there is a lack of structure around what is supported financially, which results in differences in access," he said.

Cavalleri is one of the coordinators of GDI Ireland, which was announced in November and has a budget of €623,00 for the next four years, €400,000 of it contributed through Ireland's Health Research Board, and the remainder via the EU. Cavalleri and partners are working on a roadmap for creating data infrastructure, and to test it using synthetic data.

Ireland, Cavalleri noted, does not have such data infrastructure, in part because it has not run national-scale research projects, similar to the work DeCode Genetics has conducted in Iceland, the UK's 100,000 Genomes Project, the Estonian Genome Project, or Finland's FinnGen project.

The country can draw on the lessons learned in those projects, with an eye on running similar, large-scale studies that utilize the data infrastructure created by GDI Ireland. The Republic of Ireland has a population of 5.2 million, and 7 million if the population of Northern Ireland is included. Research links between scientists in the RoI and Northern Ireland are strong, and the border doesn't encumber collaborative research projects, Cavalleri pointed out. In theory, the island could be an ideal location for running population-scale studies, but also with potential global ramifications.

"Ireland has exported a lot of DNA to North America, Australia, and elsewhere," said Cavalleri. "Understanding the genetics of rare disease in Ireland can benefit the diaspora around the world."

He said while there is a willingness to align the national strategy and the GDI Ireland project, it is speculative at the moment to discuss how they might overlap. "I hope they will align, but ultimately that will be for the national office to determine," he said.

In the meantime, Cavalleri and his partners will be building Irish genomic data infrastructure. Ireland already has academic resources spread throughout the country, with hubs in Dublin as well as at the Science Foundation Ireland Center for Research Training in Genomics Data Science at the University of Galway. Science Foundation Ireland recently granted the center €13 million to support the training of 115 bioinformaticians over the next seven years. The students will come from universities across Ireland, including Northern Ireland.

Part of the award, Cavalleri noted, is a cloud infrastructure that could be used in a national node. Standardized clinical and genomic data, generated thanks to the national strategy, could thus find its way into the GDI.

Denmark's National Strategy for Personalized Medicine could serve as an example. That project aims to integrate genomic data into electronic medical records and established a national genome center.

"GDI provides us an opportunity to connect with Europe and see what other people are doing," said Cavalleri. "Because our infrastructure has not been put in place yet, we can align our research activities with the sequencing and genomics done in the hospital systems," he added.

'Long overdue'

Ireland's national strategy for genomics and plans to build genomic data infrastructure are a welcome development for its clinical genetics community and follow years of discussions and some earlier attempts. In 2015, for example, Genomics Medicine Ireland launched, a private life sciences company supported in part by the Ireland Strategic Investment Fund. However, the firm was acquired by WuXi NextCode, now Genuity Science, in 2018.

"People have been talking about doing this for decades, but it never gained traction because it wasn't effectively communicated," said John Greally, a professor of genetics at Albert Einstein College of Medicine in New York and a Galway native. Greally also served on the board of the University of Galway from 2017 to 2020.

"It's not that Ireland didn't have the money; Ireland had the Celtic Tiger," he said, referring to the country's economic boom in the late 1990s and early 2000s. The new activities around the national strategy and GDI Ireland are therefore "long overdue," he said, as Irish patients face waiting lists for genetic testing and, in his words, it can take years for a child with a rare disease to see a geneticist.

"There is a pervasive issue that they are trying to address," he said, which is "not just how we can be a genomics-savvy nation like the UK, Estonia, or Denmark, but how we can provide good genetic services." For that, education programs will be important, he noted, as well as training new clinical geneticists.

Establishing sequencing infrastructure to support future population-wide genomic studies, Greally added, will not be a challenge. "That tends to be the bright, sparkly thing that everyone looks at," he said. Getting Irish participants to take part in such studies will be more difficult. Half the cost of other studies, like FinnGen, is sample collection, for example, he said. Ireland has the potential to run population studies similar to Finland, he said, noting that rare variants are even found at the regional level.

"You have this possibility that what you are treating in Donegal might represent an enrichment for certain genetic diseases compared to what you would be treating in Galway," said Greally. "There is a massive discovery opportunity there." He added that it would be up to the Irish government, as opposed to private entities, to lead such population-wide studies in the future.

Some researchers are ready to go back to their home country for such opportunities. Aedín Culhane, a professor of cancer genomics at the University of Limerick's School of Medicine, recently moved back to Ireland after 15 years in the US, mostly recently at the Dana-Farber Cancer Center. "A number of different things were happening in Ireland, and it looked like cancer clinical genomics would take a step," she said. "I wanted to take my experience from Dana-Farber and use it to develop the infrastructure here."

Culhane acknowledged that there have been discussions around genomics in Ireland for years, but that the government decided to act now because needs are becoming more acute, and because genomics is becoming a more routine part of clinical care. "People have also realized that health is so important for the economy," Culhane added. "And when you have a national health service, it has to be tied to a national strategy."

That strategy does not end at the Irish-UK border, though, she underscored. Clinicians in the RoI and Northern Ireland communicate in numerous ways. Limerick last year hosted the annual meeting of the Virtual Institute of Bioinformatics & Evolution (VIBE) in Ireland, and this year's meeting will take place in Belfast, for example. There are also other programs that encourage North-South cooperation, such as the UK and Ireland-led Shared Island initiative, announced in 2020, which has a €500 million budget through 2025 to support research, among other activities.

"There has actually been quite a tradition in Ireland in bioinformatics and genomics," Culhane said. As such, the community is primed to take advantage of new resources created by the new national strategy and GDI Ireland. "It's exciting to see the wheels starting to move," she said.