Sir, – The Irish National Screening Programme for PKU (phenylketonuria) was established by Dr Seamus Cahalane in 1966, only three years after the development of the Guthrie Test in the US. Our programme was one of the first in the world, and showed Irish medical care at its very best.
Since that time more than 2.5 million samples have been put on Guthrie Cards, analysed and stored, and thousands of children have been protected from the awful consequences of PKU, and other debilitating genetic disorders.
The Minister for Health, with advice, has apparently decided to destroy the cards on the grounds that the samples were taken for one purpose only. Once that purpose has been fulfilled, they must not be kept in case they might be used for another unrelated purpose.
If carried out this will be a disaster, the destruction of a unique library of information about the medical condition of the majority of all people born in Ireland in the last 50 years. It is the modern equivalent of burning the Customs House, or destroying the birth certificates of all born in Ireland. If these records are destroyed it will be the worst act of cultural and social vandalism carried out by our Government since 1922.
Modern technology is available which allows us to learn more and more about the genetic risks to the health of every person in the archive. This could be of value to them personally. It would also allow the health authorities to obtain a more accurate picture of the health risks of the Irish people as a whole, and this would allow us to introduce more valuable and effective health services.
I will give one example. Haemochromatosis (HC) is a serious disorder of iron storage, which can be fatal. It is caused by mutations in a particular gene called HFE, which was only discovered in 1996. The mutated gene can easily be identified on the Guthrie Cards, but the samples were not taken with HC in mind. But the Government might, with legal approval, be permitted to screen all Guthrie Cards, confidentially, for the HFE mutation, and could invite anyone who wants, to receive information about whether they are at risk of heamochromatosis. The disease creeps up on a person, usually not showing until middle age. In some cases, diagnosis is too late to avoid liver failure, or fatal liver cancer. Early diagnosis means very effective simple preventive care. Lives could be saved by a national HC screen using Guthrie Cards.
The risk of haemochromatosis is exceptionally high in Ireland – about one person in 75 carries two copies of the mutant gene so about 100,000 people in Ireland should know whether they have to look out for the disease. It would be a good medical strategy for Dr James Reilly to screen all the Guthrie Cards and let us know, if we want to know, our risk of HC.
There are many thousands of serious genetic disorders. They affect one child in 50 born, and one adult in 50 develops a disorder with a major genetic component. In addition to these “Mendelian” disorders, all cancers, all heart diseases, all mental disorders, and indeed all other complex disorders, have genetic components. Modern medical research is revealing more and more accurate methods for diagnosing genetic risks for individuals and for populations.
There are apparently legal questions about the retention of the records, which I am not qualified to discuss at the moment.
The crucial point now is for the Minister to ensure that the records are not destroyed. This may require emergency legislation which would have three immediate objectives: 1. To forbid destruction of the records; 2. To forbid any use of the records for any purpose other than those uses for which permission was given or might be given in the future; 3. To place records in the safe keeping of a suitable agency once they have served the purposes allowed under (2).
Our Guthrie Card Archive is a priceless resource which could in the future, in accordance with law, be used to increase the quality of health in Ireland, in a way never envisaged by Dr Cahalane.
Dr Cahalane was a pioneer. Dr Reilly has an opportunity to be the same. – Yours, etc,