Blood sample bank offers unique opportunity
Sir, – The Minister for Health has agreed to the destruction of the nation’s 1.6 million Newborn Screening Card (NSC) blood samples as recommended by the Data Protection Commissioner. Such an action would be a serious mistake (Front page, March 3rd). The proposed destruction is the consequence of the lack of a legal framework to protect the blood samples, which were collected without written consent, from newborn children in Ireland from 1964 until July 2011 as part of the National Metabolic Screening Programme.
Some 80 young people die suddenly and unexpectedly each year in Ireland, almost half of them with no obvious cause. These deaths referred to as Sudden Arrhythmic Death Syndrome (SADS) are usually due to genetic abnormalities in the heart’s electrical system. Genetic analysis of the deceased’s blood or tissue provides a unique opportunity to identify the underlying genetic mutation responsible for the death and permits identification of at-risk family members.
However, in many cases no blood or tissue samples were retained at the time of death so that the only remaining blood sample is the NSC blood sample. Unfortunately, the blood samples of more than 1,000 young Irish people who have died of Sudden Cardiac Death (SCD) in the past 27 years will be destroyed if the Minister’s decision is implemented.
This means that up to a thousand extended families may be left without a genetic diagnosis when we know that post-mortem bloodspot analysis for gene mutations for one of the conditions that causes SADS, Long QT Syndrome alone, will provide a diagnosis in up to one-third of cases.
The original decision and the subsequent report were made with minimal consultation and no public debate.
The NSC blood samples form a de facto national biobank. Their destruction was agreed without consultation with or input from potential major stakeholders in a national biobank such as the Irish Heart Foundation, the Irish Cancer Society, the Cystic Fibrosis Association of Ireland and other patient advocacy groups, cardiologists, geneticists, oncologists or pulmonologists, Molecular Medicine Ireland, the National University of Ireland or Science Foundation Ireland.
Until recently these groups were unaware of the impending destruction of the samples despite the potential for identification of genetic mutations prevalent in the Irish population, which may impact the nation’s health.
The reason the blood samples are to be destroyed is that they were retained without consent. In 1966 when collection of samples began, obtaining consent was not usual practice. This can potentially be corrected by public announcement of their retention without written consent and of the potential benefits and risks of continued sample retention so that individuals who wish to have their samples destroyed should then be free to do so. Lack of a request for sample destruction could then be taken as implied consent for their retention.
New Zealand and Australia have both been in a similar situation and have responded by creating a legal framework around their NSC blood samples protecting them from destruction but also protecting them from uninvited scrutiny. There is no reason as to why a similar framework cannot be put in place here in Ireland.
The past 10 years have seen extraordinary advances in the field of human genetics. In February 2011, a New Zealand group examined NSC blood samples of SCD victims for the first time and was able to make a diagnosis of an underlying genetic disease of the heart’s electrical system in one- third of cases of SADS. Some of the samples were 30 years old. This is not the time to be destroying a national repository of such blood samples.
Because Ireland was the first country in the world to set up a national bloodspot screening programme, we have one of the largest, most complete collections of a nation’s blood samples. This offers a unique opportunity for Ireland to identify in its young population, both alive and deceased, disease-causing gene mutations.
In the rapidly changing world of genetics, it is impossible to know the full implications of the destruction of these samples. By destroying them, we lose 27 years of our shared, stored genetic history. Legislation is required now to change course, prevent the imminent destruction of these blood samples in the coming weeks and create for them a legislative framework to protect them into the future.
We ask that the Minister reverse his decision, and that a wide public debate be held on the possible destruction of the NSC samples, before any irreversible steps are taken. – Yours, etc,