Plan to destroy heelprick cards is a serious mistake

The national archive of the Guthrie heelprick test cards is a unique, priceless and irreplaceable resource of immeasurable medical and societal importance that should not be destroyed, but safely preserved and managed by a responsible governance structure.

There is an urgent need to preserve these cards and establish an ethical governance structure to oversee their future use. Denmark, Sweden and Norway – in contrast to Ireland – have legislation surrounding the retention, storage and use of genetic material to allow retention of heelprick test cards for 1,000 years.

In 1966 Ireland became one of the first countries to implement the Guthrie test, a blood spot screening test on newborn babies used to detect Phenylketonuria, a genetic condition that can cause damage to the brain and nervous system. All babies born in Ireland are screened for six conditions by means of a blood spot collected by way of a heel prick on to an absorbent card, known as a newborn screening card, or “Guthrie card”.

The value of the Irish newborn screening programme is immense. Since it was introduced, thousands of children have benefited from early treatment that has improved their health and prevented severe disability and death.

It is now widely accepted that the value of the Guthrie cards is not confined to screening. About a million cards corresponding to blood spots taken between 1984 and the present remain intact. This archive of cards containing the DNA of every baby born in Ireland during that time constitutes a unique genetic record of the Irish population since 1984. The archive has a wide societal value because epidemiological research can be conducted into patterns of genetic disease in the Irish population.

The cards have been used to confirm that Ireland has the highest frequency worldwide of Haemochromatosis, a potentially fatal iron storage disorder. This type of information has public health applications that are specific to the Irish population. In this context, data protection and the privacy of the individual must be balanced against the societal good.

More specifically the cards have a value for extended family members of young people who have died from sudden cardiac death, as highlighted last week by the Irish Heart Foundation. A genetic diagnosis using the blood spot samples may be used to identify an underlying genetic abnormality so that family members can themselves be tested and take steps to reduce their risk.

That genetic information contained on these cards can save lives is true not only for sudden cardiac death, but also for other inherited conditions and this knowledge is being continuously expanded. The archive is also of significant bio-historical interest and value because it contains a complete genetic picture of pre-immigration Ireland, capturing the homogeneity of the Irish population prior to the 1990s. As such, it is a precious resource for future genetic studies of the Irish population, and any year’s collection can provide a snapshot of the genetic makeup of the Irish population in that particular year. Since the introduction of the Guthrie test in 1966, the landscape of data protection has changed and the process of consent for tests such as the Guthrie test and attached personal information has evolved.

Until 1988, when the Data Protection Act was enacted, consent to such tests, and the retention of personal data, was based on the principle of "implied consent". Keeping pace with international practice, and respecting data protection law, the Health Service Executive introduced a process of "explicit consent" in 2011. This means that parents must give written consent to both the test and to storage of the blood spot card for a period of 10 years. Parents can choose to opt out of the test, or request that the blood spot card be destroyed after one year.

A complaint was made to the Data Protection Commissioner by a member of the public in 2009 that their Guthrie card was being held by the HSE without their consent. The advice from the commissioner to the HSE was that continued retention of the cards constitutes a breach of data protection legislation. Following an internal review the decision was taken by the minister for health to destroy the archive, while allowing individual card holders to request to have their cards returned. It is the opinion of a large proportion of the medical community, both in Ireland and internationally, that disposing of these cards is a serious mistake and that the decision to do so has been based on a very narrow and legalistic perspective that does not take the medical and societal value of the cards into account. In the past 15 years, there has been an explosion of knowledge in the area of genetics, which would have been unimaginable to previous generations of medical and scientific experts. It is certain that the value of the genetic material in this archive cannot yet be fully quantified, and destroying it would be short-sighted in the extreme.

The decision to destroy the cards has been made without any meaningful consultation with medical and scientific experts who see the need to have cards preserved. The public has been largely unaware of the importance of the archive or its planned destruction and has not had the opportunity to enter the debate.

The view of the HSE is that cards cannot be retained without consent. However, alternatives to consent do exist, even within the existing legislation. Furthermore, in the past there has been political will to introduce exceptions to the Data Protection Acts, such as that made for the establishment of a National Cancer Screening Registry in 1997.

Data Protection Acts allow for health data to be processed without consent under certain circumstances: where “it is necessary to prevent injury or damage to the health of the data subject or another person” or “to protect the vital interests of the data subject or another person in a case where (I) consent to the processing cannot be given by or on behalf of the data subject or (II) the data controller cannot reasonably be expected to obtain such consent.”

The safeguarding of privacy is a matter of extreme importance, but there is nothing of more vital interest to an individual or to society than the saving of life. The Minister should take this into account and if necessary introduce new legislation rather than destroy this irreplaceable archive forever.

ProfJohn Crowe is p resident of the Royal College of Physicians of Ireland