Tuesday, 2 July 2019

Questions (495)

Stephen Donnelly


495. Deputy Stephen Donnelly asked the Minister for Health if a review of newborn screening will be conducted in view of recent advances in detection and treatment of conditions and the expansion of services and screening in Italy and other countries with a view to that review providing the changes required to ensure Ireland has the best possible newborn screening services; and if he will make a statement on the matter. [28179/19]

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Written answers (Question to Health)

All newborn babies (between 3 and 5 days old) are offered newborn bloodspot screening (generally 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

- phenylketonuria

- classical galactosaemia

- MCADD (medium-chain acyl-CoA dehydrogenase deficiency)

- homocystinuria

- maple syrup urine disease

- glutaric aciduria type 1

The most recent expansion of the programme occurred on 03 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.

Ireland, very much like the UK has always evaluated the case for commencing a national screening programme against 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 to safe standards.

It is correct that the number of conditions screened for by Member States (MS) in Europe does vary. This does not reflect major differences in the genetic background of populations or estimated prevalences but rather highlights different MS approaches to (1) the estimation of risks and benefits in their populations and (2) responding to the cultural demands and ethical difficulties arising from a lack of evidence to screen for many of these rare conditions. Detailed knowledge about the natural course of many rare diseases, their variants and specifically information on the medium and long term outcomes after early treatment initiation are still insufficient.

There is no doubt that newborn screening programmes has the potential to be rapidly transformed by new technologies, new therapies and ever increasing expectations but this highlights the need to continue with a robust, methodologically sound and detailed analysis of the evidence in each and every case against the Wilson and Junger criteria.

I will shortly be announcing the name of the incoming Chair of the National Screening Committee. Recruitment of the remaining membership will continue over the summer months. Any future potential changes to the National Newborn Bloodspot Screening Programme will be incorporated as part of the Committee's immediate work programme.