Simon Harris (Wicklow, Fine Gael) | Oireachtas source

It is important to state that we are not standing still in Ireland. I would hate anyone to think that. In an Irish context, we have already started the ball rolling in the right direction. As the Senator indicated, a national screening committee will be established this year. The mind boggles that we have never had one before but we will now have a national screening committee in our country. The idea is that it will strengthen the governance, transparency and oversight of any proposed new national screening programmes or changes to existing programmes.

Let us remember where this came from. This was a key recommendation of the Scally review of 2018. I am glad to report that the work is progressing well. I am pleased to tell the Seanad that I have appointed the chairperson of that new national screening committee. I have appointed Professor Niall O'Higgins as chairperson. He is an excellent and eminent physician. He is highly regarded and has a significant track record. I look forward to working with him. I met Professor O'Higgins last week. While I respect completely the independence of this new national screening committee - its independence is important - I asked that, as part of its initial body of work, it prioritise a review of the national newborn blood-spot screening programme and look specifically at how Ireland should best proceed with an expansion in line with international best practice. I am pleased the chairperson has agreed to this course of action. Les Martin is constantly eager for me to make progress and not wait. I fully understand that. In the meantime, I have asked my Department to do some preparatory work and analysis that we can hand over to the screening committee. I am pleased the committee will be set up this year. It will work closely with and learn from the equivalent national screening committee in the UK.

Ireland has always evaluated the case for commencing a national screening programme against the international accepted criteria and the evidence bar for commencing such a programme should and must remain high. Different people will have different views on this. As a relatively new parent, I would have liked the option of my baby being tested for many conditions, even for some that are not treatable so that we, as parents, could know more. Other parents may prefer not to know and that is fine as well. In my time as Minister, I have adopted a view of being pro-choice. I am very much pro parents' choice in this regard as well. The mandatory element of the programme in Italy concerns me somewhat. I am keen for a parent to have the right to know and have the test. However, I would also respect the contrary view from an ethical point of view especially for conditions that are not treatable. Some parents may wish not to know. I have had a chat with Les Martin and others in that regard. It is about choice and providing the option.

It is correct that the number of conditions screened for by member states in Europe varies significantly. My Department has done an initial body of work in this regard. For example, Malta only screens for two conditions. As indicated, Italy screens for over 40. We screen for eight. The United Kingdom screens for none. This is not a scientific tally but it seems the average number that countries screen for is a number reaching the teens. It is fair and objective to say that Ireland is screening below the European average. Italy is very much above average and Malta is well below it.This variance does not necessarily reflect major differences in the genetic background of populations, or estimated prevalences, but rather highlights different member states' approaches to the estimation of risks and benefits in their populations and responses to the cultural demands and ethical difficulties arising from a lack of evidence to screen for many of these rare conditions.

Newborn screening is only a small but important part of what is a very exciting new era of genomic medicine. There is considerable debate about it and I have read much of it. It has the potential, if done correctly, to transform medicine, to get into personalised medicine by using new technologies and therapies, and also meet ever-increasing and understandable expectations.

There are internationally accepted criteria that need to be met before commencing a population screening programme. We must continue with a robust, methodologically sound and detailed analysis of the evidence in each case. A point I would make to Senator Norris, which I have made to Les Martin and some of the rare disease advocacy groups, is that I have no difficulty with a law in this regard, none whatsoever, but I would have a difficulty with, and I do not believe it is the Senator’s intention, crossing over that line into clinical expertise. There is a role for clinical leadership here and a role for political leadership. Together we must try to get to where want to go, where we listen to the voice of our clinicians, where we bring our clinicians with us, where we allow them to learn from other countries about best international experience and where we, as policymakers, set the policy. We have a policy role and they have a clinical and medical role and a medical ethical role. I would hope that the combination of the leadership this House has shown tonight, the leadership I will offer and the leadership the national screening committee will offer, from a clinical perspective, we can align in that regard. That is extremely important.

We have seen in this country in recent months and years the importance of having confidence in our screening programme, clinical robustness behind our screening programme and proper governance and transparent structures. That is not in any way to dampen or pour cold water on this motion. It is merely to be constructive in terms of how we take these next steps but I say that believing we can take them and that we should expand our newborn screening programme. It does not feel right to me that Ireland is screening for fewer conditions than the European average. That does not sit well with me. That is the why I have asked the new national screening committee, as its first body of work, to examine how we can expand the screening programme and learn from best international practice.

I am genuinely grateful to Senator Norris for the opportunity this debate provides. To answer Senator Boyhan's question, I am certainly not opposing the Private Members’ motion, and I thank him for his comments. As I said, I am currently implementing the recommendation in the Scally report to establish a national screening committee. Its inaugural meeting will take place this year. I have asked that the important issue of newborn screening and its expansion, in line with best international practice, be its first body of work.

That is not all I want to do, and I know it is not all Les and Lynda Martin, want to do with respect to rare diseases. There is much more we need to do in that respect. Senator Norris rightly mentioned our national rare diseases plan. I understand the reason we use the phrase "rare disease" but it does not capture it. Much of this is not that rare. A large number of people in Ireland are impacted by rare diseases and we need to do much more. One of the actions I agreed at an excellent meeting I had with Les Martin and advocacy groups in my Department last week was that in advance of Rare Disease Day, which will take place on 29 February 2020, which is a rare date and which provides an important opportunity to recognise our rare and wonderful citizens, I would like us to put in place programme of work we would do. The screening is one part of it, and I have outlined what I intend to do in that regard, but we should also examine having a public awareness campaign about rare diseases.