The NSAC and the work of expanding the newborn screening programme

Paul Mulholland examines minutes of the national screening advisory committee’s recent meeting
on possible additions to the newborn bloodspot screening programme

The final review of the implementation of recommendations from the scoping inquiry into the CervicalCheck screening programme, which was published in November 2022, was positive about the formation of the national screening advisory committee (NSAC). The creation of such a group was one of the recommendations in Dr Gabriel Scally’s original scoping inquiry report.

“The committee’s formation happened speedily, and its operation is transparent and a great credit to its Chair, its members, and all the staff involved in supporting and informing the committee,” according to Dr Scally’s final review.

The document noted it was “particularly commendable” to see the publication of the minutes of the committee’s meetings. These minutes give an important insight into the work of the committee and how it comes to its decisions. The meeting in December 2022 focused largely on the national newborn bloodspot screening (NBS) programme and the minutes highlight the various considerations involved in adding conditions to the programme.

SCID

At the meeting, Dr Laura Comber, Senior Health Technology Assessment (HTA) Analyst, HIQA, presented on the Authority’s final HTA of the addition of a group of conditions known as severe combined immunodeficiency (SCID) to the NBS programme.

SCID is a group of rare, but serious inherited conditions that are almost uniformly fatal in the first year of life without appropriate treatment. The estimated prevalence of diagnosed SCID in Ireland is relatively high at one-in-39,760 births, with 27 patients diagnosed from 2005-to-2020. The HTA found that national and international evidence consistently suggests that the implementation of T-cell receptor excision circles (TREC)-based analysis would enable the earlier detection of infants who would otherwise present clinically and such screening should allow appropriate care to be provided soon after diagnosis.

“The committee noted that TREC-based screening is not specific to SCID,” according to the minutes.

“Other T-cell lymphopenias (TCLs) would also be identified, and it is likely that the incidence of these non-SCID TCLs would be higher than that of SCID. These findings may vary in terms of clinical implications for babies, but it is important that specific clinical pathways are in place for those babies who will inevitably be detected with non-SCID TCLs.”

The committee stated that “significant communications issues” exist for parents and guardians and health professionals relating to newborn screening, particularly concerning false positive or false negative results.

“A plan should be in place for communication, dialogue, and reassurance to parents and guardians should they receive a false positive or false negative result,” according to the minutes.

As the equipment required for screening for SCID is not currently used in Ireland, planning is required to procure and implement the test by the NBS laboratory.

“Key operational challenges exist, and consideration must be given to the timing of implementation, given the scheduled move of the national NBS laboratory to the New Children’s Hospital.”

The committee decided to recommend to the Minister for Health Stephen Donnelly that screening for SCID should be added to the programme.

Other conditions

At its December meeting, the committee recognised the need for a transparent process to enable the preliminary prioritisation of the 35 conditions that may be considered for assessment for potential addition to the NBS programme. These include 30 conditions identified from clinical advice from the HSE’s NBS programme governance group, as well as additional conditions proposed via the committee’s first annual call, which was made in December 2021. The committee selected five conditions following the consideration of the preliminary prioritisation.

Spinal muscular atrophy (SMA) should be considered as the next priority condition to undergo an in-depth HTA by HIQA for addition to the NBS programme, according to the committee.

“This advice is based on the clinical urgency arising from the prevalence in Ireland, the severity of the condition, the recent availability of curative treatments, and an existing diagnostic and treatment pathway in Ireland,” the minutes state.

“It was also noted, in terms of testing platform, that the same testing kits used for SCID would also enable testing for SMA.”

It was agreed the Chair of the committee, Prof Niall O’Higgins, would write to HIQA to request a HTA on the potential for the condition to be added to the programme.

The committee agreed that sickle cell disease should also be considered for more in-depth assessment, noting it was commonly screened for in many other countries.

“The group noted that the changing demographic in Ireland would likely increase prevalence, and that a full treatment pathway (including bone marrow transplant) is not yet available in Ireland. Treatment is complex and evolving,” the minutes state.

The group advised that further information, including current opportunistic testing in Ireland, would be needed in evaluating screening for sickle cell disease in Ireland.

In-depth assessment of tyrosinaemia type I is also under consideration. The group advised that the longer list of conditions should be reviewed with a view to considering whether it would be more efficient to assess a cluster of conditions (including tyrosinaemia), which could be implemented simultaneously.

Another condition which should be considered for in-depth assessment was biotinidase deficiency. The group noted that while it was relatively rare in Ireland, it was treatable, and the testing kit required would be available in Ireland in the near future. The group advised that glycogen storage disease type II (POMPE) was “not appropriate to include in the priority shortlist at present as there is currently very limited screening carried out for this condition internationally”.

Addition

In January 2023, Minister Donnelly announced the approval of the recommendation for SCID screening, bringing to 10 the number of conditions screened under the programme. It was also announced that HIQA will carry out a HTA on SMA and is expected to deliver its recommendation later this year.