Currently all newborn babies (between 3 and 5 days old) are offered newborn bloodspot screening (known as the ‘heel prick’) through their parents/guardians for eight very rare conditions that are treatable if detected early in life. These include:
- cystic fibrosis
- congenital hypothyroidism
- classical galactosaemia
- MCADD (medium-chain acyl-CoA dehydrogenase deficiency)
- maple syrup urine disease
- glutaric aciduria type 1
The most recent expansion of the programme occurred on 3 December 2018 when screening for Medium Chain Acyl-CoA Dehydrogenase Deficiency (MCADD) and Glutaric Aciduria Type 1 (GA1) commenced.
As per recommendation 5, contained within the Scally Review (2018), a National Screening Committee will be established and become operational before the end of 2019. This is to strengthen the governance, transparency and oversight of any proposed new programmes or changes to existing programmes. Similar to the UK National Screening Committee, the Committee’s role will be to undertake an independent assessment of the evidence for screening for a particular condition against internationally accepted criteria and make recommendations accordingly.
- Interviews for the role of Chairperson took place on 10 June 2019 and I expect to receive a recommendation for appointment this week
- The remaining positions on the NSC will be filled by Expressions of Interest throughout June - August 2019.
Any future potential changes to the National Newborn Bloodspot Screening Programme will be incorporated as part of the Committee's immediate work programme. Ireland, very much like the UK has always evaluated the case for commencing a national screening programme against the international accepted criteria – collectively known as the Wilson Junger criteria. The evidence bar for commencing a screening programme should and must remain high. This ensures that we can be confident that the programme is effective, quality assured and operating as safe as possible.