I return to a topic I raised with the Tánaiste here on Leaders' Questions last May regarding the diagnoses and care pathways for patients with rare diseases. Despite their name, rare diseases are not rare at all. We all know someone with a rare disease. In Ireland, about one in 12 people are or, at some stage in their lives, will be affected by such a condition. This means that approximately 825,000 Irish people are impacted by a rare disease when family members, many of whom are carers, are included. The west and north west of Ireland has one of the highest incident rates of rare disease in Europe.

While most rare diseases appear early in life, with sadly about 30% of children passing away before their fifth birthday, many are not diagnosed until adulthood when it can take ten years to get a diagnosis. Over the interim years, incorrect diagnosis leads 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 inappropriate surgery.

There is nothing worse than being unwell and not believed even though you know there is something fundamentally wrong, except, of course, when it is your child who is unwell. Then you can be dismissed by the doctors as just an over-anxious parent. 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 their life expectancy. It also places huge, yet futile, costs on our health budget and denies other 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. But Ireland has about half the number of people employed in core clinical genetic services when compared with our international peers. This results in a two-year waiting list for 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.

To help address this situation, the Minister for Health allocated €2.7 million this year to commence the implementation of a national strategy for accelerating genetics and genomic medicine in Ireland. This was to invest in the establishment of a national office for genetics and genomics and to appoint 16 staff to build capacity in the field of genomics within our health service. But we are now informed that some of these posts have not even been advertised because of the HSE moratorium on recruitment. Obtaining the diagnosis is a long and tortuous journey. It is wasteful of resources in our health service if they are not targeted properly. I ask the Taoiseach to personally intervene to address this deplorable situation which is compounding the cost overruns in our health service.

The Deputy is absolutely right. Rare diseases are not that rare and that is certainly the case if one puts them all together. It includes diseases such as cystic fibrosis, haemophilia and muscular dystrophy. Often it is a delayed or missed diagnosis and the sooner patients can get a diagnosis the better for everyone; not only themselves but the wider health service.

As the Deputy knows, we have a five-year national strategy in relation to genomic resources and rare diseases.

Some €2.7 million has been allocated for the implementation of this strategy in its first year and that includes the establishment of a new national genetics and genomics office. I understand that recruitment of some positions has been affected by the agreed controls on recruitment of management and administration grades. I am advised that recruitment should now progress in the near future and I will make further inquiries in that regard. I should say that to help meet existing demand, specialist roles have been allocated to the following locations: six genetic counsellors to Beaumont Hospital; for HSE west and north west, that is Galway University Hospitals, there is a campaign under way; for Children's Health Ireland the post is advertised; for Dublin midlands, which is St. James's Hospital and St. Vincent's University Hospital, the job specification is in development; for the south west, which would be based in Cork, the post is progressing; and for HSE mid-west, which would be based in Limerick, again that post is progressing.

Even after the tortuous road to diagnosis, patients in many instances have to educate the doctors who are treating them. That is because the expertise does not exist in Ireland for many of the conditions, due to their rarity. To address this, the EU cross-border directive mandated the establishment of the EU reference network to link rare disease clinicians right across the EU. Irish doctors participate in 18 of these 24 networks. To ensure our continued participation in the existing networks as well as the six remaining networks, we need to modernise our patient registers and establish electronic patient records. This will allow our patients to access the latest research and drug trials and assist in policy development. As the Taoiseach knows, the electronic health record programme has been paused until the new children's hospital health record programme is implemented. This seriously threatens patients' access to these vital EU networks and our participation in the emerging European health data space being developed at EU level.

As I said earlier, rare diseases taken all together are not that rare but some rare diseases are very rare. When we have conditions that are one in a million or one in 5 million, it is not possible for us to treat those patients on our own; we have to co-operate internationally and particularly at European level. We definitely need better patient registers. There are many conditions for which we do not have a list of all the patients who have the condition. That makes research in particular very difficult. That is not dependent on there being electronic health records. There were national patient registers long before there were electronic records but obviously one would help the other. I do not know the detail as to where that is at the moment. I think there is a requirement for specific legislation in relation to that. I will ask the Minister for Health to come back to Deputy Naughten with a more detailed reply.