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The RCSI and FutureNeuro report lists multiple recommendations from stakeholders to improve patient services and genomics research in Ireland.
A collaborative report is calling for new measures to support the 800,000 people living with neurological conditions in Ireland.
The report highlights the priorities and needs of patients that have neurological conditions, which are conditions that affect the brain, spine and/or nerves such as epilepsy, stroke and Parkinson’s disease.
Some of the key recommendations include a collaborative engagement and consultation process to inform the development of a national genomics programme, equity of access to a national genomics service, secure data infrastructure to enable impactful research, and public awareness campaigns about the value of genomics research to healthcare.
Patients, healthcare providers and researchers gathered together for a “deliberative dialogue” last November to make the list of recommendations. This dialogue was led by the RCSI University of Medicine and Health Sciences and FutureNeuro, the Science Foundation Ireland research centre for chronic and rare neurological disease.
The suggestions from the dialogue were compiled into a report, which aims to guide the implementation of the HSE’s upcoming National Strategy for Accelerating Genetic and Genomic Medicine in Ireland.
The dialogue was also led by the Irish Platform for Patient Organisations, Science and Industry (IPPOSI). This organisation worked with the RCSI last year to form a citizens’ jury which examined the benefits and challenges of genomics research in Ireland.
Genomics database and investment
One of the recommendations listed is the creation of a national genomics database to improve both diagnostics and research into neurological conditions.
“The central database should ensure that genomics data is studied as widely as possible, including by international research consortia, but with a transparent access route and clear controls/governance in place,” the report said.
While the report said there was “consensus” on the need for this type of database, issues were raised in relation to data security and the need to “identify and eliminate risk” so people feel safe to contribute data.
“Participants were concerned about insurance companies being able to access their families’ genomic data and other identifiable data and deny healthcare insurance if there is vulnerability to certain conditions,” the report said.
Last year, Ireland joined the Genomic Data Infrastructure project, which plans to share genomic data across 20 EU countries to boost biomedical research and the development of personalised medicine.
Researchers involved in the RCSI dialogue said “considerable investment” is required in genomics services to make genetic testing and counselling “available and accessible”.
There was also a call to establish “dedicated research time” for healthcare professionals, to boost research collaboration.
“It was acknowledged that hospitals were already overburdened and that investment is also required to facilitate the consenting process including space in clinics,” the report said.
Collaboration and equity
One of the last sections of the dialogue focused on the need for stakeholder representation, consultation, communication and collaboration.
The report said an emerging theme from the dialogue was the need for a diverse neurological stakeholder group to help inform the implementation and governance of a national genomics programme. One stakeholder said there should be “genuine collaboration with the neurological community, not just consultation”.
Commenting on the report, Deirdre McNamara, the HSE director of strategic programmes in the office of the chief clinical officer, said the HSE will ensure that “the patient voice is at the centre of the process” throughout the implementation of its National Strategy for Genetics and Genomics.
“The implementation of the National Strategy for Genetics and Genomics is a priority throughout the HSE and we are committed to improving the delivery of healthcare for people in Ireland,” McNamara said.
Healthcare equity was also an issue noted in the dialogue, with examples shared of diagnosis delays due to lack of service capacity and a “huge variation in genomics services across the country”.
Another example referenced one Irish hospital that had “bureaucratic barriers” to the ordering of genetic tests by consultants, reducing the overall number of tests ordered.
As a result, one of the recommendations in the report is for Ireland to ensure equity of access to an “appropriately resourced national genomics service”.
“It was agreed that while, in Ireland, there are pockets of excellence in research and clinical use of genomics for the diagnosis and treatment of neurological disease, it was noted the ongoing challenge of lack of resources such as clinical nurse specialists and genetic counsellors really undermines the efficacy of the service,” the report said.
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