Denis Naughten (Roscommon-Galway, Independent)
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I warmly congratulate the Minister of State on his appointment as the deputy leader of the Fianna Fáil Party. I wish him the best of good luck in that new role. Since the start of the year, I have regularly asked the Taoiseach, the Tánaiste, the Minister for Health and the HSE about the future location of the genomics laboratory currently based at Crumlin hospital. This question arises due to the planned relocation of the children’s hospital in Crumlin to the new national children’s hospital site, bizarrely, without the transfer of the genomics lab. Even more bizarrely, we have yet to get any answer as to where this laboratory will be based. This is important for children with rare diseases, 30% of whom will never celebrate their fifth birthday, as a diagnosis is vital if they are to source a treatment to prolong their far-too-short lives. There is nothing worse than being unwell and not being believed even though you know there is something fundamentally wrong, except, of course, when it is your child who is unwell. Then, you are dismissed by doctors as just being an over-anxious parent. In fact, many rare conditions are not diagnosed until adulthood when it can take ten years to get a diagnosis. Over the interim years, incorrect diagnoses lead to expensive and often pointless medical interventions, including psychological care, on the assumption that the symptoms are all in their heads. In some instances, there is even inappropriate surgery. When patients are treated over the years for the wrong condition, it delays access to the appropriate care that could make a real difference to their quality of life or even the length of their lives. It also places huge yet futile costs on our health budget and denies patients vital tests and treatments that could transform their care. That is why getting an accurate and timely diagnosis is so vital for children and adults with a rare disease.

Despite the name, rare diseases are not rare at all and include all childhood cancers. We all know someone with a rare disease. In Ireland, about one in 17 people are, or at some stage in their lives will be, affected by such a condition. Currently, there is an approximate two-year waiting list for genetic diagnostic services that can revolutionise care for patients and particularly children with rare conditions. This is in stark contrast with the three-month waiting list for the same genetic services in Northern Ireland. It is not just those with rare conditions who face long delays. I have a constituent with a young family waiting anxiously for a BRCA2 gene test at St. James's Hospital. She has already been treated for breast cancer, a close family member has tested positive for the gene, and three more family members are waiting to be referred for testing. If this young woman has this gene, she told me she has a 90% chance of getting cervical cancer and an 80% chance of getting breast cancer. She has been told she will have to wait 24 months just to have a test. These are life and death delays. We require a definitive answer as to where the existing genomic laboratory at Crumlin will be located when the children's hospital site closes. This new site must become the centralised centre of excellence for all genomic testing for young and old, instead of the current piecemeal approach with services scattered across this city and country. Many samples are being sent to Wales and Scotland for analysis at present, resulting in months of delays for results. Have we learned nothing from the cervical screening scandal?

Jack Chambers (Dublin West, Fianna Fail)
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I appreciate Deputy Naughten's kind words. I am replying on behalf of Minister for Health, Deputy Stephen Donnelly. I appreciate the opportunity to update the House on the important matter of national laboratory capacity for genetics and genomics.

It is important that we increase genomic laboratory capability in Ireland and invest in the infrastructure to drive this advancement. Genomic medicine is enabling a paradigm shift from a disease-orientated, one-size-fits-all approach in healthcare to an approach that is more personalised, predictive, preventative, data driven and cost effective. An important element of this is developing a national approach to genomic testing in Ireland. In 2016, the national genetic and genomic medicine network strategy group provided a report to the HSE. This report outlined the future of genetic and genomic services in Ireland. It recommended that a national approach to clinical and laboratory genetics and genomics should be developed. It also highlighted that the existing laboratory in Children's Health Ireland Crumlin was not designed to deliver a national function in this regard.

Following on from this report, a national strategy for accelerating genetic and genomic medicine in Ireland was launched in 2022. In line with Sláintecare, the strategy outlines a clear approach to developing a sustainable patient- and family-centred genetics and genomics service. An important element of achieving this is increasing genomic laboratory capabilities in Ireland. Strengthening infrastructure to drive advances in genetics and genomics is a key objective of the strategy’s focus. This will lead to the development of a national centre for genomic medicine services, including genomic testing and bioinformatics.

As the current focus of work is on assessment of existing capacity and need, a decision on the location of this new national centre has not yet been made. In the meantime, and while the 2022 strategy is being implemented, I assure the Deputy and the House that genetic and genomic testing will continue to be managed in CHI Crumlin and other acute hospitals, as appropriate.

The Minister is fully committed to developing a robust patient- and family-centred genetics and genomics service in Ireland and increasing wider laboratory capabilities for the betterment of patient diagnostics and care.

Denis Naughten (Roscommon-Galway, Independent)
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I thank the Minister of State for his response. The difficulty is that it is abundantly clear that genetic and genomic services are a low priority for the HSE when no laboratory capacity was provided for in the new children's hospital. We even have the redevelopment of the Crumlin hospital site as an elective hospital without anybody pointing out that this laboratory service would be forced to close to facilitate this new development. This is just not good enough.

However, it now provides TDs and the Government with the opportunity to provide leadership and direct the HSE and the clinicians to centralise all genetic and genomic services on a single site and develop a state-of-the-art service. This will ensure not only that patients have access to timely results but also that we can expand genomic medicine in Ireland to become a global leader. Cancer, for example, which is a disease of the genome, is caused by gene mutations that lead to uncontrolled cell growth. Genomics offers a promising avenue for cancer care, with about 5% to 10% of cancer-causing mutations being inherited. We can now go much further because comprehensive genomic profiling identifies genomic alterations across cancer types, providing doctors with the information needed for personalised, precision medicines.

As tumours grow, they shed cells into the bloodstream that can be detected by genomic sequencing. This liquid biopsy can detect hereditary factors, assist in cancer screening, aid in diagnosis and therapy selection, and monitor treatment.

The future of genomics in cancer care is bright with the development of personalised mRNA cancer vaccines. These vaccines, currently in clinical trials, use the same technology as Covid-19 vaccines to prevent the spread of cancer cells and, as a result, vaccinate patients who can then remain permanently in remission. However, without the laboratory testing facilities, we are denying Irish patients the opportunity to access this revolutionary cancer care.

Jack Chambers (Dublin West, Fianna Fail)
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I again thank the Deputy for raising this important matter. The national strategy for accelerating genetic and genomic medicine in Ireland outlines a clear approach to developing a sustainable patient- and family-centred genetics and genomics service. As I said, it is important that we increase laboratory capability in Ireland and invest in the infrastructure to drive this advancement. An important element to this is developing a national approach to genetic testing in Ireland. The current focus of the work is on the assessment of existing capacity and need. Beyond 2024 planning will continue for the development of a national centre. Consideration will be given to appropriate locations for such a centre. The decision on a specific location has not yet been made.

The development of a national approach will help build a service that is more efficient, future-proofed and sustainable. I assure the Deputy and the House that wider genetic and genomic testing will continue to be carried out at existing sites in the meantime. I also reiterate the commitment of the Minister and the Government to improving these services in Ireland and creating an equitable patient- and family-centred service. I appreciate the Deputy's raising the matter.