Drug firm warns about delays in screening babies for a debilitating disease

Health Minister Stephen Donnelly. Picture by Brian Lawless/PA

Wayne O'Connor

January 29 2023 02:30 AM

One of the world’s biggest pharmaceutical companies has told a committee responsible for advising Health Minister Stephen Donnelly it has concerns that lengthy decision-making processes are delaying screening for a debilitating disease.

Swiss firm Novartis wrote to the National Screening Advisory Committee (NSAC) last year about the length of time being taken to make decisions, including about Spinal muscular atrophy (SMA) screening in baby heel prick testing.

SMA is a neuromuscular condition.Severe cases lead to muscle weakness that limits a child’s movement. It also makes breathing, coughing and swallowing difficult.

Early symptoms are hard to detect, and treatment has better outcomes before the onset of symptoms.

Basic screening carried out on babies abroad shortly after they are born can detect the condition and facilitate a life-changing intervention, but it is not done here.

The NSAC, an independent expert group, considers and assesses evidence and factors around screening programmes before making recommendations to the health minister.

In 2021 it made a call for proposals around new or expanded screening programmes.

Documents released under freedom of information show Novartis wrote to the NSAC in September and told the committee there is a raft of evidence supporting SMA screening.

It said treatments are available but early intervention is key.

“Our concern is that for a disease where there is a clear clinical, economic and ethical case, there does not appear to be a way to expedite the rigorous and thorough but prolonged processes currently being used,” Novartis said.

The company added it is worried this will delay the disease being included in the baby heel prick test programme “when there is a clear and straightforward case for SMA and six children per annum remain without decisive early treatment options”.

Ireland screens babies for nine conditions and this will rise to 10 after Mr Donnelly approved a NSAC recommendation this month to add Severe combined immunodeficiency (SCID) to the programme.

Italy checks for 48 different conditions.