Wednesday, 10 July 2019
Genetic Testing: Motion
That Seanad Éireann-
bearing in mind:
- that screening for genetic disorders would allow for life-saving treatment for at least one child per week,
- that this represents a considerable saving to the Exchequer in terms of obviating lengthy, expensive and ultimately ineffective treatment,
- that Italy has gone from 4 to 40 screenings in one year,
- that the Italian authorities have offered to assist Ireland in expanding the genetic testing system here,
welcomes the positive attitude of the Minister for Health, Deputy Simon Harris, and requests the Government to immediately instigate a programme of expansion of screening for genetic disorders in Ireland.
This is one of the most important debates in which I have taken part in the past 32 years in which I have been a Member of the Seanad. As a result of the debate this evening we may in fact operate to save the lives of up to 50 newborn children. We are greatly honoured to be the presence of the family of Les Martin, his wife, Lynda, his daughter, Holly, and his two sons, Cathal and Ciarán. They are a remarkable family. If one looks at the picture on the front of the briefing document they gave us, they could be an advertisement for a health farm but, unfortunately, they are an advertisement for an ill-health farm because of the situation regarding two of their children.
I previously raised the issue in February because I was contacted by Mr. Martin. The two children, Cathal and Ciarán, suffer from metachromatic leukodystrophy, which is a very rare disease but it can be addressed. If children are diagnosed early enough they can go through life without any serious disadvantage. That is the situation we are addressing. Cathal was two and a half when he was diagnosed, which was far too late and, unfortunately, there is virtually no hope for him.There is, however, hope that by pushing this measure we can ensure that no further children are left to die. This will be lasting testimony to the brief life of Cathal Martin. Les Martin's other child, Ciarán, was taken to Italy for treatment.
I am sorry, I should have said that I particularly welcome and appreciate the presence of the Minister tonight because I understand that he is not at all well. He has come here from his sick bed to be with us and that is extremely important. It is an indication of how seriously the Department of Health is taking this matter. I know the Minister has met with the Martin family. They are interested in having a law passed. At the instigation of a Senator, Paola Taverna, a law was passed in Italy which has radically changed the situation of these children. I have taken steps to prepare such a law. I was speaking with the Minister of State, Deputy Finian McGrath, and he said that his Department will be happy to co-operate with me. I hope to have such a law prepared by the autumn. With the co-operation of the Government, I believe it will be passed.
As I have said, the Martins are a wonderful, engaging family with three children. There is a need for an expanded national screening programme and for laws to protect children from these very difficult situations. At the moment eight rare diseases are screened for in Ireland. In the United States that number is 35 and in Hungary it is 26. Italy increased the number from four to 40 within the space of one year. We can do the same and we must in order to help these children.
The cost of the screening process is €50 per child. It is a heel-prick test. A tiny sample of blood is taken from the heel of a child. This is done between 48 hours and 72 hours after the birth or before the baby goes home from the birth centre. A small blood sample is taken from the baby's heel and then blotted and dried on filter paper. It is a dried blood spot. The sample previously used to screen for phenylketonuria, congenital hypothyroidism and cystic fibrosis as part of the compulsory regional screening system. It can now be used to screen for 40 disorders. No further samples are needed. This is what we need to do here.
It is a perfectly simple thing and it costs only €50. I know the Minister understands this situation. He should think of the millions of euro that will be spent on treating these children as they proceed on their tragic journeys. It is unnecessary. It is really tragic for a beautiful family such as this to have deal with their children having such conditions. The cost would be €3.5 million in a year but it would save hundreds of millions of euro in treatment costs. There are 62,000 children born in this country every year. One in 1,250 will have a rare disease. The HSE says that it is possible to implement this immediately, so let us do it.
We should also consider the possibility of having a rare disease day in Ireland to let people know about them. Without Les Martin and his family, none of us would know about this. It is his campaign that has alerted us to it. The HSE seems to be on board. The Department of Health produced a rare disease plan for the period from 2014 to 2018. So far only two of the 48 items in that plan have been actioned. I will quote from page 26 of this plan. Under "Weaknesses of current National Newborn Screening Programme" it says "Newborn screening is an essential public health responsibility, not currently mandated by law and lacking the appropriate legislative framework in Ireland." This evening I am committing myself to introduce such a law in co-operation with the Government. The plan goes on to say:
There is no health economics evaluation of newborn screening. There is a lack of patients’ advocacy groups, in particular for newborns, and a lack of public understanding of the merits and public health consequences of appropriate newborn screening for the Irish population. Difficult economic conditions and a health system under reform and reorganisation present considerable challenges to the Newborn Screening Programme.
We are somewhat out of the woods with regard to the financial collapse. I know we still have a debt of €205 billion, which is pretty shocking, but 300,000 families are living at home with children with rare diseases. They are acting as carers for these unfortunate children. Mr. Martin has told me that he has spoken at length with the four key people in the HSE and the Department of Health who run the screening programme and they agree with his suggestion. They agree that expanding screening is the correct thing to do but they cannot say so publicly because the HSE operates on the basis of collective decision-making and so has to show a collective front.
The answer is to screen for everything. That decision will be made by the national screening board which will soon be in place. I very much welcome its establishment. I also welcome the Minister's positive attitude with regard to these matters. I am concerned, however, that it will take the board ages to act and that it will look into every single individual condition. That would take forever. We need a law which will introduce such screening. Let everything else follow from that.
Mr. Martin used an interesting analogy. The construction of the M50 allowed for the development of industrial areas and adjoining towns in subsequent years. People are concerned. They ask what will happen if, after introducing these measures, other issues arise. Let us put a catch-all phrase in the Bill which would cover any further rare diseases for which treatment is available. Concerns about privacy have also been expressed to me. There is concern about the selling on of genetic information and so forth. This legislation would include a privacy clause to deal with such a situation. There are also side benefits to this. The detection of 50 new patients with rare conditions offers a wonderful opportunity to examine these conditions and to study them scientifically and medically. There is the possibility of terrific investment in research.
Questions on this issue have been raised in the other House. On Wednesday, 19 June there was a Fianna Fáil motion on maternity care to which Sinn Féin proposed an amendment - and I commend Sinn Féin on this - which said that we must guarantee the right of every child born in Ireland to be screened for all diseases for which there is a viable treatment. This was voted on in the Dáil on Thursday, 20 June. That is a wonderful advance but we need a bit of action on it. It is not enough just to have a vote. We have to see a bit of action to go along with the vote.
The law will ensure that the screening programme proactively looks outward every two years to revise the lists of conditions screened for, thereby protecting it into the future and consigning to the past the sight of grieving parents. We have two grieving parents with us this evening. They are asking for their kid's disease to be included so that the next child might be saved. I know it is wrong to involve the President of Ireland, Michael D. Higgins, in these matters and I do not intend to do so, but there has been communication with him and he has indicated that he sees this as a human rights matter. That is all I will say on that point. He is not saying that we must introduce a law, just that the issue is one of human rights. Once again, the President is 100% right.
The referendum on the repeal of the eighth amendment was passed. I was in favour of repeal. Abortion is a very difficult issue to address and the Minister did so very honestly and very openly, as did the Leader of the House, Senator Buttimer. He was absolutely excellent in chairing that committee. We were able to open ten abortion clinics in one year. Why can we not do the same to save lives? The saving of life is even more important than providing facilities for abortion. We spent so much time convincing ourselves that abortion should be allowed, why should we not do something for the babies that continue to live?
The HSE might argue that we cannot screen for every disease if we do not have the facilities to care for those who have them. That logic is flawed. The patients are going to exist anyway. They are going to come into existence and they will die. Screening is available for €50 a child so there is no excuse whatsoever to delay its introduction. I will once again say that I am extremely grateful to the Minister for coming from his sick bed to address us this evening. It is a token of the interest he takes in the matter. As I have said, he has met with the Martin family already. I believe the Seanad will do something extremely important and historic. I have met the parents and their children. They are the most delightful children anyone could possibly meet. This is important. Cathal has very little chance but he will leave behind a lasting memorial for the lives of up to 50 children who will be saved as a result of his circumstances.
I second the motion. I will be brief. I thank Senator Norris for using Private Members' time to discuss this important issue. I welcome the Martin family and their children. I also welcome the Minister and note the importance he has afforded this debate by being present.
The motion seeks, in the context of the heel-prick test administered to newborn babies, to increase the number of disorders tested for from eight to 40 in order that doctors might identify potential illnesses that could possibly be cured or curtailed if diagnosed at an early stage. The campaign, as Senator Norris stated, is being pursued by the Martin family on behalf of their son, Cathal, and others. Cathal is terminally ill with metachromatic leukodystrophy. I understand that the Minister has met the family and that he is sympathetic and generally supportive of an increase in the level of testing. I hope he will inform the House that he is not going to oppose the motion.
This motion is important. As Senator Norris stated, every citizen in Italy has the right to be screened at birth for all conditions for which there are feasible treatments. It is my hope that we can apply this in an Irish context. I look forward to hearing the Minister's response.
I thank the House for the opportunity to speak about our national newborn screening programme. In particular, I thank Senator David Norris for tabling this Private Members' motion on such an important topic. I am a long-time admirer of the work of the Senator. The families affected are lucky to have such a champion in him. When Senator Norris takes an interest in a human rights issue, he takes it seriously and will see it through. I look forward to working with him in that regard.
I understand the genuine interest in this matter and I share it. We have all heard about the real-life experiences of parents whose children have been affected by rare diseases. Most recently, as the Senator stated, I had the opportunity to meet Les and Lynda Martin, whom I welcome to the Oireachtas. They are parents to two young boys, Cathal and Ciaran, battling a rare disease. I welcome their sister, Holly, as well.
What seems complex and difficult to the rest of us is personal to Les, Lynda and their family. They have shown remarkable courage and determination in telling their personal story. People do not tell their personal stories because they want to do so. They do not do it for the sake of it but because they want to improve the system and ensure that no other family has to endure the difficult circumstances they have endured. People tell their personal stories to change minds, hearts, policies and laws. In telling their story, the Martin family have brought a renewed focus and priority to this matter and I thank them for that. Les and Lynda opened the doors of their family home to me. I was delighted to be given an opportunity to meet them, their children and Biscuit, the family dog. They are a special family and one I hold in high regard. I thank them for being here this evening.
Like so many facing adversity, they strive to make the situation better for those around them in future. I am keen to work with them and the House on this matter. Senators have already referenced how there have been cross-party initiatives and efforts across the spectrum to progress this issue. I commit to working with all Members to achieve our united goal of making our screening programme the best and strongest it can be and to working with other countries to achieve best international practice.
Ireland has a well-established newborn screening programme. It was one of the first countries in the world to introduce a national newborn screening programme, which it did in 1966. We were world leaders in this area. Newborn screening, more commonly known as the heel-prick test, is offered in respect of all newborn babies in Ireland through their parents or legal guardians when they are between three and five days old. It is a completely safe procedure that checks a sample of the baby's blood for eight rare conditions that are treatable if detected early in life. We have expanded the programme in recent years. Up to December 2018, we were screening for six conditions. Since then, the test has been expanded to screen for eight conditions. Most babies born in Ireland will not have any of these eight rare conditions that the heel-prick test checks for. It is important to state that for expectant parents who may be watching this debate. However, for the small numbers of babies who do, detecting a condition early has major benefits. It means treatment, established as effective, can start early. This can then improve their health and prevent severe disability or even death. Each year, over 100 babies are identified and treated. Yet, the benefit is greater still. It helps a family to plan, prepare and make decisions on future choices as well. That knowledge and certainty is important.
As Senator Norris mentioned, Italy recently enacted legislation for mandated national screening. Extended screening has become a mandatory national public service in Italy and every newborn there receives a free and compulsory test. The test can provide early diagnosis, shortly after birth, in respect of almost 40 rare metabolic hereditary diseases. The Italian approach is certainly generating much discussion and debate at EU level. Unlike what Senator Norris has suggested, the health authorities in Italy also screen for some conditions that are not treatable. That is a matter of ethical debate. They screen for conditions that are treatable and also those that are not. Last month, at the request of Les Martin, I had the opportunity to speak to my Italian counterpart, Ms Giulia Grillo. I also had the opportunity to meet her Italian delegation at the recent Employment, Social Policy, Health and Consumer Affairs Council in Luxembourg. I had the chance to discuss their approach and to ask if we can learn from them and their experiences. They kindly offered to host my officials on a visit to Rome to discuss further their policies and to see their facilities. I am pleased to say that my officials, at my request, have accepted that invitation and are now working out a suitable date for the visit.
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.
In fairness to the HSE, running of public health and information campaigns is one of the tasks it does very well. I have seen it do it with the HPV vaccine and many other initiatives. By running a rare disease campaign, we would make other citizens aware of them and we would signpost families to support. One of the requests that has been made to me is to try to bring families together. "Loneliness" might be the wrong word to use but there is a feeling of isolation and not knowing where to turn, and families want to learn from each other. I have committed that my Department and the HSE will work with the advocacy groups and that we have a gathering of families impacted by rare diseases, whether we call it a workshop, a summit or a conference, so they can talk to each other and talk to us and tell us what we need to do. There would also be an element where we could bring clinicians together so that they could talk to, and learn from, each other.
I assure Seanad Éireann and, most importantly, the families and people affected by rare diseases that I intend to have a very busy programme of work between now and 29 February 2020, as we prepare for Rare Disease Day, that will help, in a meaningful way, to raise public awareness, support families, put in place the signposting and information people need when they get a diagnosis as that information is currently lacking and have the work of our national screening committee under way. We have an exciting agenda and I know Members of this House will help with that work and assist us in improving awareness of rare diseases and helping families in what can be extraordinarily difficult journeys.
I thank the Minister for his response and Senators Norris and Boyhan for raising this extremely important issue. I recall attending a meeting dealing with the issue of rare diseases in Farmleigh a number of years ago. As a result of that meeting, at which representatives of quite a number of the organisations concerned were gathered, it was decided a national rare diseases office would be established. That was an important development.
There are more than 6,000 rare diseases affecting a very small number of people, including children. I have worked with quite a number of the organisations concerned during the past six or seven years and I know the dedication and commitment of the parents concerned to try to improve matters, not necessarily securing major achievements for their families but making sure families affected in the future will get the benefits of the changes that are required. I know one person who was involved in the issue of rare diseases at that time but since he started a campaign to highlight the issue six or seven years ago, both of his children have died. I know of his commitment and dedication to bringing about the change that was required.
I should have said initially that I welcome the Martin family and acknowledge the work they have done in highlighting this issue. I mentioned there were more than 6,000 rare diseases and if we can identify any one of those at a very early stage and medical treatment can be provided to benefit both to the child and his or her parents, it is important we make sure we bring about the necessary change in order to do so.
The Minister outlined that two additional diseases were brought under the screening programme in December 2018. A national screening committee is to be set up and Professor O'Higgins has been identified as its chairman. That is an important appointment. It is important to identify people who have the necessarily skill and the knowledge to bring forward programmes that can help to identify children who have a very rare condition and to make sure the expertise can be made available to those children at the earliest possible date.
While, unfortunately, there has been much criticism of some aspects of our childcare, it is important we acknowledge the Minister's commitment to and work in this area, in pushing forward against adverse media comments at times, for instance, with respect to the new children's hospital which is an extremely important development in this country. Rather than expertise being based in different locations, it will all be based in one location. By doing that, patients will have access to a team effort. That is an extremely important development.
The big disadvantage a person with a rare diseases in Ireland faces is that a person with a rare disease in the United States would find that 500 families might be affected by that condition whereas that condition may affect only three or four families in Ireland.They therefore find themselves battling, and it is a solo battle. It is important we give support to these families and the organisations working to try to identify new treatments that are available and constantly keeping up to date on developments in other countries.
What Senator Norris has proposed is the correct way forward. We must ensure, however, that a proper structure is put in place to establish the screening service and that it is made available to all children at the earliest possible date. If we can save even one life, we should try to bring forward the change required into the screening programmes we have at present. There is a fairly big difference between a test that provides results in respect of eight diseases and one that provides results in respect of 40 different diseases. None of these diseases is identifiable immediately. It is only through the screening programme that it is possible to identify them and predict that a child will develop a particular disease. We must therefore bring about any change that might identify these diseases at the earliest possible date.
Reference was made to the screening committee. I agree with Senator Norris that this is not about the process of delaying the implementation; it is about trying to fast-track it and bring about that change. I welcome Senator Norris's proposal, the Minister's response and the work he has done to date. It should be remembered that the Scally report recommended that a national screening committee be set up. In fairness to Dr. Scally, he has examined the positive aspects of the cervical screening programme but also identified where there were glitches in the system, as a result of which people have suffered adverse consequences. It is important we learn from the mistakes that were made, looking constantly for new ways of identifying medical conditions and ensuring that the appropriate treatment is offered at the earliest possible date.
I welcome the Minister of State, Deputy McGrath, to the House and thank the Minister for his contribution. I speak on this debate on behalf of my Seanad colleague, Senator Swanick.
Fianna Fáil will fully support Senator Norris's motion calling for the expansion of genetic testing in Ireland. Early diagnosis, intervention and prevention are beneficial to both the health of babies and the health of the budget by obviating lengthy and expensive treatments. Ireland is already behind other EU countries in the number of screening tests carried out on babies. Newborn screening is the most important and common type of genetic testing. Newborns are required to be tested for certain gene abnormalities because care and treatment can begin right away. In Ireland newborn blood spot screening for six conditions is offered to all infants on heel prick samples collected between 72 and 120 hours after birth. A newborn blood spot screening does not result in a diagnosis; it shows only whether or not a baby is at high risk of having one or more of the conditions screened for. As the Minister and Senators Norris and Colm Burke said in their contributions, Italy introduced expanded newborn screening, ENS, for all newborns and on August 2016 saw the passing of legislation envisaging that all newborns in Italy undergo ENS free of charge a few hours after birth. The test enables early identification of about 40 genetic metabolic disorders, difficult to diagnose yet easy to detect through ENS. Treatments and cures for such diseases already exist and their early use during the first days after birth, before the symptoms are visible, can significantly increase a child's quality of life or even prevent death. Early intervention through drugs and tailored diets can limit irreversible damage to the brain and other organs which may lead to cognitive and physical disabilities that are often severe or even lead to the baby's death. Estimates indicate that one newborn out of 1,500 is affected by a disorder detectable through screening.
I have quite a bit more written in this speech but, quite frankly, it would be repetitive to read it out. It has already been said by the contributors so far, so I do not intend to read the rest of the speech. I welcome the Martin family and thank them for the efforts they are making in this regard. Again, we will fully support Senator Norris's motion and we look forward to the measures it proposes coming into law fairly soon.
Cuirim fáilte roimh an Aire Stáit. I welcome the motion and I am proud to speak on behalf of Sinn Féin. I thank Senator Norris for extending the opportunity to add my name to this very worthy motion. The issue has already been discussed in the Lower House, where a Sinn Féin amendment to a motion included a call for a newborn screening test. In this State newborn babies are screened for only eight conditions. In Britain the figure is 9; in Switzerland, 13; in Sweden, 24; in Portugal, 25; and in Italy, 40. The failure to screen babies in Ireland to a higher standard has devastating effects on many families. Sinn Féin's work on this is in response to the courageous campaigning by Les Martin, who is in the Gallery. Les has gone to great lengths to highlight the solution to this problem. He has organised a successful online petition and he presented a briefing in the audiovisual room organised by my colleague, Deputy Brady, earlier this year. He has outlined time and again what could be done and what we need to do. He has woken us up to what should happen and we now need to act on it. Deputy Brady told Les's story in the Dáil in June. What struck me was the courage it takes to talk about one's own struggles and circumstances and to use them to prevent similar situations happening to other families. Les and his family should absolutely be commended on this, and we thank them.
The committee appointed a chair today, which is to be very much welcomed. The Minister talked a little about expanding the programme but it will not be mandatory, and of course it should not be. At present 99% of parents take up the agreed screening, as strongly recommended. Every mother with her newborn baby is aware of the heel prick test, or newborn screening, to use the other terminology for it. It is the first medical investigation or test of the mother's baby when he or she is three to five days old. It is a kind of rite of passage for every mother holding her newborn.
We need to reform and expand the newborn screening programme to guarantee that every child in the State has the right to be screened at birth for any disease for which there is a viable treatment. As this motion recognises, this is what was done in Italy when a law was passed to the effect that every Italian citizen is entitled by right to be screened at birth for any disease for which there is a viable treatment. The approach is to the effect that if the technology and research are there and backed up, we should use them. As we have heard, the expansion of the programme would not incur a huge cost but would have a significant impact on and benefit for families and babies and would in the long run save the State millions of euro. Early detection and early intervention are very important. Having been a nurse and spoken to colleagues, midwives and public health nurses, I have learned they see this as a no-brainer. The programme is in place already and further testing does not inflict any more discomfort on a baby. Let us just expand the programme. It is an opportunity, at a cost of €50 per child. This is a pittance by comparison with the return in terms of an infant's health and his or her health throughout life.
In an email to us, Mr. Martin stated the problem in asking everyone to do something is that everyone leaves it to everyone else. I feel a little guilty about not responding promptly and ask Mr. Martin to forgive me. Motions are not legally binding and this has caused serious frustration for me and colleagues in this House after the passing of previous motions. Motions, however, communicate where the House stands on issues and are a function of democracy. I ask the Minister of State to take this seriously. I believe he will and that the Minister, Deputy Harris, will also do so. I ask them to act immediately. It would be appropriate for one of them, or both, to come back early in the next term to update us on advancements. I am delighted to see this motion before the House.
I congratulate Senator Norris on taking up the mantle for the rest of us on behalf of this House. I thank and congratulate the Martin family, especially the dad, Les, a man on a mission. Now he has handed the mission over to us and we will not fail him.
I am sharing my time with Senator Dolan. I welcome those in the Visitors Gallery. I commend Senator Norris on his thoughtful contribution. This is an important motion.
I had the opportunity to speak on a very similar motion or resolution last week at the OSCE, where Italian parliamentarians — this issue has been led by Italy — tabled a successful resolution on neonatal care as a social development target. Maybe that is relevant in this context. As with the motion before us, the resolution focused on the issue of diagnosis. I had the opportunity to contribute to the OSCE debate and I proposed some small amendments to the resolution. I did not feel it necessary to propose amendments to Senator Norris's resolution but I will still flag the issue I wish to raise.
It is extraordinarily important that every family have the opportunity to gain access to information on any treatable condition it is possible to know about. There is also a case to be made for conditions that may not be treatable. It is important that society plans for the best possible quality of life for individuals born with a condition that may not be treatable in the longer term. It is a matter of ensuring that society has the resources to provide support and care for all its citizens, including those who may carry a condition for a period.
While an expansion from eight to 40 under the testing programme is certainly very positive, there is an residual underlying issue. It applies just as much now as it would under the acceptance of the very good proposal by Senator Norris. The matter must be addressed in a balanced way, however. I hope that the national screening committee mentioned by the Minister, Deputy Harris, will be able to engage on this. I refer to assurances regarding how this is done. The HSE website states samples are never used for commercial purposes. That is key because there have been very serious concerns over the database of heel prick genetic information that was gathered and due to be destroyed by the State but which was not. There is a lack of clarity over what mechanisms were put in place over future use of the data. This information must be for the individuals, their families and the public health service. It is vital that there be no commercial usage, not even indirect commercial brokering of usage. This is so data will not fall into private hands. I say this in the context of recent concerns being addressed in terms of Genomics Medicine Ireland, GMI, which is currently developing a genetics database that it hopes to contain more than 400,000 samples. That is its goal. Some very concerning issues arose in regard to GMI in that it has been asking questions about where biobanks might be stored, indicating that the genetic data it is collecting would be shared first with pharmaceutical companies and only become available for public use after a couple of years. That is not the case at present with the publicly delivered heel prick test. It is vital that the latter test remain something the State does and supports in regard to families.
The 90% take-up of the heel prick test was mentioned. I would like it to be 95% because I would like all children to benefit from a diagnosis in the planning of their lives and the best possible treatment for them. To give the public the assurance it will need to engage constructively on the testing, it will be very important for any new legislation to have appropriate privacy provisions and firewalls applying to any commercial usage of genetic material. The proposer of the motion is very well intentioned.
I was delighted to see this motion coming before the House. I am very pleased to have the opportunity to support it. I thank Senator Norris for it. I thank, in particular, the Martin family for the work they have done on this and for the public service they have done at a time when they have plenty on their plate.
Rare diseases are not rare. There will be more of them identified as we get better at diagnostics and all the rest. The issue of public awareness, mentioned by the Minister, Deputy Harris, is important. I am happy he mentioned it. Last week, the new chairman of the HSE talked about the importance of investing in amelioration, prevention and early intervention. We need to get to this side of the equation so we can dampen down the cost of trying to provide services for those concerned later on. Reaching out to people — advocacy groups, families and parents — has to go beyond simply raising awareness among the public. It has to be tangible and practical. The Minister said we will work with the advocacy groups. Real and practical support has to be offered. The Minister of State, Deputy Finian McGrath, will be well aware of Down Syndrome Ireland, a password for advocacy over decades. There are many other such organisations throughout the country. The support has to be practical.
We need to refer to Sláintecare in this debate. It has a role to play in moving to the side of the equation to which I refer. We have had the recent independent review group report, the Catherine Day report. It underlines very strongly the advocacy role of organisations, which are often seen only as hard service providers. We should bear in mind their closeness to families and the involvement of families therein. If I am repeating some points, I am doing so very deliberately.
Mr. Martin and his family should not have had to push and lead themselves. There is still too much of this in this country.
I have seen up close the effect on families of delayed diagnosis or no diagnosis, particularly where there could have been one, in parallel with reluctance or slowness on the part of the health services in giving support where there is no diagnosis.It is as if the services are saying that they know what families are going through but that the families need to go home. That is not acceptable. It is inhuman. We have to be seen to stand by people at their hour of greatest need. We all have to find ways to do that. The Minister, Deputy Harris, spoke about people experiencing more than loneliness. People are left feeling that they are totally on their own in a country that is not a basket case but is among the wealthier states on this globe.
I thank Senator David Norris and welcome the remarks made by the Minister. We have a number of vehicles, including the independent review group report and Sláintecare, to move on those practical matters.
Cuirim fáilte roimh an Aire Stáit. Tréaslaím le mo chara, an Seanadóir Norris, as an rún seo a chur faoinár mbráid. I commend Senator Norris. He and I often disagree deeply on important and sensitive issues. This is an important area of human dignity on which we certainly agree. I have some questions but I would not like to be seen as being in the ranks of the sceptics on this. I hope to contribute to this debate later, when some of the issues, including those mentioned by the Minister and other contributors, can be discussed. It is not the first time that Senator Norris has brought something important and socially relevant before this House. Some of the best and most important moments in the Seanad occur when there is an intersection of people's lived experience, and on that matter I welcome the visitors in the Gallery and the efforts of politicians in the Houses. Any initiative which seeks to screen newborn children for serious conditions at an early age should be welcomed. Such testing would obviously have the benefit of allowing early interventions which may prevent or greatly diminish the impact of those conditions, and give parents and clinicians a head start in addressing them. There is a phrase, "Knowledge is power", though I would never want to use a phrase like that in this context because no medical person should ever have power over a child or parent. We can certainly say that knowledge is care and responsibility. Knowledge always has to be facilitated.
In raising certain issues, I do not want it to be taken that I am against the motion. I have questions and concerns which need to be teased out. I do not profess to be an expert in the area of DNA screening but I understand that there is a debate in other jurisdictions about the effectiveness and the benefits of testing. For example, we know from experience of a recent case here, which I will return to in a few minutes, that when it comes to DNA testing, false positives and false negatives can occur. A positive test for a condition does not mean that a child will necessarily develop that condition, merely that the genetic markers exist which give the child a predisposition towards it. It is legitimate to ask and for these questions to be answered whether this will lead to families, or even the taxpayer, being exposed to unnecessary stress or if we could find ourselves investing in costly treatment or medical attention which might not be needed. I stress that I am not drawing a conclusion on that matter, merely raising what I believe to be valid issues that need to be addressed.
In the United States, there is a school of thought that DNA testing should only be targeted at children within families where there is a history of a particular serious condition. In other words, there is a question of what benefit there is in engaging in non-specific testing where there is no indication of a reason to be concerned about the child's health. These are legitimate questions to think carefully about when making our answer. It is important, in making that answer, that we do not obstruct necessary testing.
It is acknowledged that any form of DNA screening or sequencing is costly and time-consuming. I heard Senator Norris's figures on that. Somebody contacted me to say that there was a wait of over a month for a genetic test for haemochromatosis which cost €70. I am not certain how these procedures are to be costed and done in a cost-effective way. There are significant shortages in our maternity services, with chronic shortages of both midwives and obstetricians. We are well below the staffing levels which would be considered safe by international standards. It is wrong that, notwithstanding these shortages, €12 million has been diverted from maternity services to pay for abortions out of taxpayers' funds. Money which was previously allocated to safely delivering babies is now being spent on ending their lives. I noticed that Senator Norris very honestly and baldly asked a question with great logic and reasonableness, even though we come from a different perspective. If one takes as a given what I never will take as a given, that unborn children's lives can be taken away with the protection of the law, and there is a situation, as we have, in which there are tax-funded abortions, then a fortiori, money needs to be spent on saving lives. Choices need to be made and that is why it is legitimate to consider the various pressures on our health system when one considers taking on another social good which will come at a financial cost.
If DNA screening is to be introduced for newborn babies, the Minister needs to explain how, at a time when the services which safely bring these newborns into the world are under pressure and having their resources reduced, we can devote resources to introduce a relatively expensive system of screening for those same newborns. If any such investment was not carefully costed and linked closely to the social good that would flow from it, it would not serve the taxpayer well. Beyond maternity services, the crisis continues. There are 10,000 children who have been waiting for 18 months or more to see a specialist, including 3,000 waiting to see orthopaedic surgeons. We need to invest in those basics, as well as aspiring to have gold standard treatments. I am asking questions and far from drawing a firm conclusion. This motion talks about the potential savings for the Exchequer but it seems that such testing would need to be specifically targeted at high risk cases. I could be wrong about that and others may have a different view.
Genetic testing is an enormous cash cow for the pharmaceutical industry. Eurofins Biomnis, the company which produces the "Harmony" test, and which, to be fair, employs a large number of people in Dungarvan, has made substantial profits. There is nothing wrong with profits per sebut it is important to be aware of the interests involved. There have been allegations that doctors have an unhealthy or inappropriate financial interest in promoting such tests in certain cases. This has prompted the General Medical Council in Britain as well as the Medical Council here to issue warnings about potential conflicts of interests. These are all matters to be very carefully considered and I hope I do not appear to be obstructive. One has to look at the issue in the round, from all reasonable perspectives.
I note that the motion is specifically confined to DNA screening of newborn children, but this cannot be divorced entirely from the issue of neonatal screening. I mentioned false positive and false negative results and the potential stress to parents. The House is aware of the recent case in Holles Street, where a false positive test ended up costing a child his or her life and causing devastation to the child's parents. I hoped that the Minister, Deputy Harris, would still be here when I raised this because it would have been an opportunity for me to ask for an answer. I raised this case at the Joint Committee on Health last week on foot of a letter from solicitors representing the parents. It is fair to say that they feel they are in the dark and are not being kept informed. Perhaps something has emerged since then to give the lie to that but there is an issue here with regard to whether the Department of Health is treating the family with the respect they deserve, in keeping them fully abreast of everything that is happening. It was not clear at the meeting whether a HSE investigation is supposed to be happening. The Government has been slow to give clarity on the case compared with other high profile cases. I get the impression that there is almost a wish that it would go away. I know an investigation of sorts is taking place but I wonder what kind of accountability exists between the hospital, the HSE and the Department of Health, given the significant issues of public interest that arise here, whatever one's views are on the morality, rightness, wrongness or injustice of abortion. I decided to ask this when I saw the Minister come into the House because these debates offer an opportunity to ask questions about connected areas.Perhaps the Minister of State will help me in that regard now that I have raised it in his presence. Although I have a fear that the adoption by the State of DNA testing of newborns could lead to calls for the State to provide such testing for childrenin uteroand perhaps even to demand it in certain cases-----
-----that would not stop me supporting the necessary DNA testing because I believe that knowledge is good if it can do good and be used for a good purpose. It is also legitimate to be concerned about what people in power do with knowledge. If medical science can identify a newborn baby's predisposition to cancer, cystic fibrosis or some other serious condition, is it only a matter of time before it can identify such markers in unborn children? I worry about the slippery slope in that regard. As I stated, I accept that concern alone does not dislodge the legitimate claims of newborn babies and their parents for access to information that will bring comfort, improve health and facilitate good legitimate decision-making by those families. However, the more we learn about what is and will become possible in our society, the greater the responsibility on public authorities to act ethically in the light of such capabilities. I have deep concerns that we are already on the road to eugenics in this country in certain key respects. Many people in this country would oppose that with every fibre of their being. In doing so and being concerned by that, one should never oppose the need for the accessing and sharing of knowledge. There is legitimacy to the points raised by Senator Higgins regarding what is done with information pertaining to individuals in these cases, how it is handled and who gets access to it. I apologise for going a little over my time.
I welcome the Minister of State to the House and commend my colleague, Senator Norris, on proposing this important motion which I am delighted to support and which I and my Labour Party colleagues co-signed. I also commend Senator Boyhan who ably seconded the motion. I pay special tribute to Les Martin, who was in the Visitors Gallery and has been present all afternoon along with Lynda and their children Holly, Cathal and Ciaran. They had to wait a good deal of time for the motion to come up, but they have been tireless in campaigning and calling for the expansion of newborn screening as called for in the motion. They have shown incredible courage while dealing with their heartbreaking story of having two sons who are battling the rare disease of metachromatic leukodystrophy. It shows incredible courage to do what they have done and to keep working to ensure that other children and families do not have to deal with this in the same way. It is good to hear a majority of strong support from across the House for this important motion. It is unfortunate that some irrelevant issues were raised by the previous speaker, but I will not dwell on them.
Through Senator Norris, Les Martin has provided us with evidence of very careful research and extensive information about the sort of expanded newborn screening programme that is being proposed. I am very grateful to him for that and, in particular, for giving us so much information on the Italian law, which I wish to address. It is important to note that bill 167 which was passed in Italy in 2016 essentially does what Senator Norris's motion proposes. I am very heartened by the very positive response of the Minister, Deputy Harris, to the motion, his indication that this will be a priority issue for the national screening committee which has been established and his announcement that Professor Niall O'Higgins has been appointed as chair of the committee, which is very welcome. The Minister also spoke personally as a parent. I vividly recall, as is the case for most parents, the heel prick test carried out on my two children within a few days of their birth. Others have spoken on the very high rate of take-up of the test in Ireland. Senator Devine memorably referred to it as a rite of passage and she is correct in that regard.
It is quite traumatic for a new parent to see his or her child given this little prick but, in fact, it is a minimally invasive test which fulfils an important purpose for newborn children, namely, to screen for eight conditions, as is now the case in Ireland, or for up to 40 conditions as is the case in Italy. It is an extraordinary and positive scientific development that this can be done and that in many cases the conditions and diseases which are screened for are treatable.
Italian law No. 167 provides for a small blood sample to be taken from the baby's heel between 48 and 72 hours after birth. The sample previously used to screen for only four conditions is now used to screen for 40 disorders. No further samples are needed. The birth centre ships the sample to the screening centre, with delivery within 24 to 48 hours. The screening centre analyses the sample on the arrival day or the following day. Extensive information is provided to parents, but the test is free and compulsory. I listened intently to the comments of the Minister on the test and his view that if expanded, the screening should not be mandatory. Interestingly, it is mandatory in Italy. We have mandatory vaccination programmes.
We already have a very high level of take-up because parents recognise the importance of the screening test. The Italian law and the information provided to parents state that positive results do not always mean there is a disorder. Of course, there is follow-up testing and so on. That is vital and must be built in. The key point is the right to be screened at birth for any condition for which there is viable treatment and, indeed, for some conditions for which there is not. The mandatory nature of the test in Italy only relates to those disorders which are listed as being required by law. There are other disorders which may be included and for which parental consent must be given. Those are the sort of issues that might be teased out by the national screening committee. I offer those views on the motion proposed by Senator Norris.
I listened with great interest to the comments of Senator Higgins. Clearly, there is now an international and transnational interest in this issue. I note that there was a debate in the European Parliament on the issue of expanded newborn screening in January of this year at the behest of the Italian health minister and others. As Senator Higgins stated, it has also been discussed at the Organization for Security and Co-operation in Europe, OSCE. It must be of some concern that there is such discrepancy or inconsistency across the EU in terms of the number of disorders which are being screened for. According to the figures provided by the Minister, two disorders are screened for in Malta, eight in Ireland - it was only six until 2018 - as many as 29 in Poland and 40 in Italy. It is clear that Italy is leading on this issue. Les Martin informed us how his family's experience was one of the catalysts for change in the law in Italy, which again shows the incredible courage he and his family have had in pushing for change in the law in Ireland and elsewhere.
I note from the information provided by Mr. Martin that the motion is supported by a range of front-line organisations such as the Jack and Jill Children's Foundation, LauraLynn Children's Hospice Foundation, Enable Ireland and Rare Diseases Ireland. These organisations represent parents and families who are on the front line of caring for children with life-limiting conditions and who see the benefit on a human level that would be derived from passing a law of the sort that was passed in Italy.
Of course, the humanity of this is the key issue, but there is also a very clear economic cost saving aspect because when conditions are detected and treated there is an immense saving to the Exchequer in terms of ongoing lifelong care, as been pointed out by Les Martin. That is another compelling argument for expanding our newborn screening programme.
As Senators and the Minister made clear, we already have a newborn screening programme and this would simply involve expanding it. It would not involve any new invasive treatment or intervention for newborns. A strong and compelling case can be made to expand the programme and implement a law along the lines of that implemented in Italy. I very much look forward to continuing to press, along with Senator Norris and other colleagues, for the introduction of expanded screening and to assist and support the Minister in his endeavours to so do.I welcome the strong support and commend Senator Norris and the Martin family for all their work on this important issue.
I thank the Acting Chairman for facilitating me. I wanted to make a short contribution. I thank and commend Senator Norris on raising this urgent matter on newborn screening and genetic testing. Earlier, I was talking to Les and Lynda Martin. I saw Cathal, Ciaran and Holly. I met them previously. I was talking to Senator Norris before the debate and said that when one meets them, one would be impressed with their dignity and sincerity when facing a very difficult situation as young parents. To have the courage, vision and tenacity to seek this debate and change is amazing. I thank them for their bravery and integrity. They have my support as Minister of State and I will work with Senator Norris and other Senators and Deputies on this matter.
I have a particular interest in this in my own portfolio, as Senator Dolan mentioned, with regard to disability. In the broader health field, I am also very involved in the issue of cystic fibrosis. Looking at member states of the European Union and around the world, the number of conditions screened by European states varies. For example, there are five in France, 19 in the Netherlands, 24 in Portugal, four in Greece, 13 in Switzerland, five in Luxembourg, two in Malta, 17 in Denmark, nine in the United Kingdom, eight in Ireland at present, 18 in the Czech Republic, 26 in Hungary, 13 in Slovakia, four in Lithuania, Italy is at the top with 42, and 12 are screened in Russia. That is the international experience of this. The Minister, Deputy Harris, said that he has written to his Italian counterpart and that he met with the head of the Italian delegation at the recent Employment, Social Policy, Health and Consumer Affairs, EPSCO, Council meeting to learn more about this initiative to test for 40 rare diseases. Officials are liaising with Italian colleagues to visit Italy and study the Italian approach and policies regarding newborn screening.
In response to Senator Mullen, departmental officials are working closely on this to study all its aspects. I met them after I met Les. They are seeking information from other European Union states about the current policy approach. Senator Mullen raises legitimate questions which have to be answered and it will be part of the debate and work that Senator Norris is involved in. Senator Mullen raised an individual case. He and the family are entitled to an answer. I will follow up on that after today's debate, having listened to Senator Mullen's concerns.
I thank Senators for the broad support for this matter and for their contributions. While I know they are not here at present, I think Les and Lynda Martin for their bravery, courage and integrity. Our hearts went out to them as a young couple with three beautiful kids who found themselves in that situation. The least that we can do is support them. I thank Senator Norris for bringing this to the Seanad.
We are very fortunate to have two such Ministers as Deputies Harris and Finian McGrath. They are both passionately devoted to these areas of welfare for our citizens. Considering that the Martin family was hanging around for two hours before the debate began, I think those children were remarkably well behaved.
They were terrific. It was lovely to meet them. Cathal is very unwell but Ciaran is pretty bright. They are a lovely family. I am glad that the question of Italy was mentioned. The Italians, who have really led in this regard, have offered every possible assistance to this Government to introduce something similar to the Italian law. That is remarkable. I am delighted that the Minister for Health took up that opportunity and met his Italian counterpart and representatives there. That is very welcome news. It is also welcome that Professor Niall O'Higgins has been established as chair of the national screening committee.
The question of public information is vital. We need to let people know. I am very much in favour of mandatory screening. To hell with the rights of parents. What about the rights of the children? Children have every right to be protected against these things and I do not give a tuppenny damn for the rights of the parents. The rights of the child come first. They must be primary. I am sure Senator Mullen will forgive me for saying that he somewhat parachuted in with his interest in abortion and so on but I would like to reassure him-----
Senator Mullen mentioned the stress on parents. There is a hell of a lot more stress if one finds that one's child has a condition and that it is too late to do anything about it. That is where the stress really comes in. What is money when it comes to the saving of children's lives? We have the possibility of saving up to 50 children's lives.
With regard to the samples being used for commercial purposes, it is a real situation, but on the other hand, I heard a debate on the wireless about this just the other day. A woman rang in to say she had certain issues and could not give a damn if it was used for commercial purposes because that she would be bloody happy if she got a cure for her disease. This is an aspect which has to be taken into consideration.
Senator Higgins has given me an OSCE document about sustainable development goals and so on. It is an excellent document which I do not have time to read into the record but I thank Senator Higgins for giving it to me. I welcome that this motion will pass unanimously and will have Government support. It is a good day for Seanad Éireann.