Expansion of newborn screening scheme ‘frustratingly slow’, official says
By Cillian Sherlock, PA
The Health Minister was unable to provide a date for when additional rare diseases will be added to a newborn screening programme, after an advocate expressed “disappointment” with the rate of progress.
Minister Jennifer Carroll MacNeill launched the Government’s new strategy on rare diseases on Tuesday, with the document acknowledging there is “significant scope” for further expansion of the scheme.
Roughly one in 17 people in Ireland – or 300,000 people – are living with a rare disease.
Those with a rare disease in Europe can often wait years to receive an accurate diagnosis, impacting their ability to access effective treatments and support before their symptoms deteriorate and permanent damage occurs.
The vast majority of rare diseases are genetic in origin and approaches such as screening and genetic/genomic testing are important methods to ensure their timely identification.
The strategy recommends that screening, diagnostic and genetic services be expanded through a variety of measures.
This means expediting the prioritisation, review and evaluation process for potential additions to the “Newborn Bloodspot Screening Programme”, supported by a dedicated review team within the Health Information and Quality Authority (HIQA).
The programme has been incrementally expanded since its inception in 1966 and currently screens for nine diseases.
In 2023, the Minister for Health Stephen Donnelly endorsed two recommendations from the National Screening Advisory Committee (NSAC) on the addition of Severe Combined Immunodeficiency (SCID) and Spinal Muscular Atrophy (SMA) to the scheme.
Once fully implemented, this will bring the number of conditions in scope to 11 – but this has yet to occur.
However, studies have shown that heel prick screening has the potential to be utilised for up to 50 rare diseases with Italy currently screening for 48 conditions.
The national advisory committee has set up a subgroup to look at the prioritisation of more than 30 candidate conditions for possible consideration.
At the launch of the strategy, Les Martin said he had been advocating for an expansion of the programme for many years.
Mr Martin, whose child died from a rare disease, asked for details on further plans and said: “I believe in screening, I know that it’s proven in other countries and I’ve been disappointed in the last six years of attempts made to expand that programme.”
Professor Ellen Crushell, the deputy chief medical officer, said the process for adding a new disease into the screening process has been “very difficult” and “frustratingly slow”.
She said NSAC had recommended that HIQA look at adding a series of conditions to a “priority list” next to be reviewed.
She added: “We’re really hoping that that’ll get under way very soon.”
The chairwoman of national steering group for rare diseases, Professor Cecily Kelleher, said the strategy is “very much committed” to enhancing the newborn screening programme.
She said it was a “fast-moving space” and ties in with developments in relation to diagnostics and genomics.
Asked when further conditions would be added to the newborn screening programme, Ms Carroll MacNeill said “enormous work” had gone into the programme and there was a very clear implementation strategy to expanding the scheme.
The minister said she was “very open” to extending screening and that she would engage with HIQA about the most efficient process to add further conditions.
Pressed for a timeline, she said it was important that clinicians drive the process but added: “My policy objective is to see it added and see it added as quickly and safely as may be.”
