Wednesday, 10 July 2019
Genetic Testing: Motion
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.