Newborns to be screened for rare but serious inherited disease

Test to be used for condition affecting one in 78,000 as well as the eight already screened

All newborns are to be screened for an additional rare but serious inherited disease from this week, the Health Service Executive has announced.

From Monday, all newborn bloodspot screening cards will be screened for ADA-SCID, a disease affecting one in every 78,000 babies, in addition to the eight conditions already screened.

Adenosine Deaminase Deficiency Severe Combined Immunodeficiency is caused by a lack of adenosine deaminase, a chemical that helps to break down toxins in the body's cells. Babies born with ADA-SCID have a weak immune system, so they cannot fight off infections. This means that common infections could be life-threatening.

The addition of the disease to the heel-prick test on all newborns was revealed by the HSE in response to a query from The Irish Times.

Minister for Health Stephen Donnelly approved the addition of ADA-SCID to the national screen programme in August 2020.

The HSE said the start of screening for the condition followed “an extensive body of work” to complete the necessary verification, diagnostic and clinical pathways.

Rare Diseases Ireland had earlier claimed that life-threatening rare diseases have gone undetected in at least 150 newborns over the past three years because of a failure to expand screening programmes.

The group, which represents people affected by rare conditions, criticised the Government for expanding the national newborn bloodspot screening programme at a “glacial” speed.

The Republic was once a leader in newborn-screening programmes but now lags behind many other European countries, it said. It had also questioned why screening for ADA-SCID has not begun before now.

The vast majority of parents want to know if their newborn has a rare condition, even if it is not treatable, according to research conducted by the group. Two out of three parents surveyed said they were in favour of screening newborns for as many rare conditions as possible.

"Ireland was one of the first countries in the world to introduce a national newborn screening programme in 1966. We are now languishing amongst the lowest ranked countries in the EU. Italy screens for 45 conditions while we currently screen for only eight. Our failure to keep pace is costing Irish children their lives," said Vicky McGrath, chief executive of Rare Diseases Ireland.

In 2020, Minister for Health Stephen Donnelly told the Oireachtas he would "provide the public health and scientific resources that are needed to save as many children as can be saved and to identify every treatable condition that can be identified and treated in this country".

Heel-prick test

Ms McGrath noted that “not one change has been delivered since”.

Newborn screening is known as the heel-prick test because a small blood sample is taken from the baby’s heel.

The group said it is concerned that the national screening advisory committee is not fully accountable because it is operating on a non-statutory footing. A Bill tightening the reporting requirements on the committee was deferred for 12 months in September 2020 on the request of the Minister, who said it would slow progress.

“The Government is moving at glacial speed and the process of adding new conditions is mired in administrative bureaucracy, even though this work should be led by the committee as an independent expert group. We do not have the luxury of time. We need action right now and we are calling on Minister Donnelly to deliver upon the promises he made to all stakeholders in 2020,” said Ms McGrath.