Denis Naughten (Roscommon-Galway, Independent) | Oireachtas source

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?

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