Tuesday, 21 May 2019

Questions (338)

Micheál Martin


338. Deputy Micheál Martin asked the Minister for Health if he has received a report from an organisation (details supplied) on expanding the newborn screening process to include very rare diseases; if proposals are being examined in relation to same; and if he will make a statement on the matter. [21374/19]

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Written answers (Question to Health)

My Office has received correspondence directing my attention to a petition to extend the newborn screening programme and which is hosted on the www.myuplift.ie website.

Currently 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 3rd 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. 

Any future potential changes to the National Newborn Bloodspot Screening Programme will be incorporated as part of the Committee's work programme.