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At the end of last year, the Department of Health hosted a Forum on the Newborn Screening At Card Archive, with the aim of providing participants from a broad range of areas the opportunity to engage in conversation with international experts regarding the current and future retention and secondary uses of the Archive.
The recent debate surrounding the Newborn Screening Card Archive is almost as controversial as it is complicated.
The National Newborn Bloodspot Screening Programme (NNBSP) enables all newborn babies to be screened within the first few days of life for six different conditions. A diagnosis at an early stage of life provides the opportunity to initiate treatment for any of the conditions, and thereby minimise the risk of permanent or severe physical and intellectual disability or even premature death.
From the inception of the NNBSP in 1966, all Newborn Screening Cards (NSCs) collected were retained indefinitely. However, in late 2009, a complaint was made by a member of the public to the Data Protection Commissioner regarding the indefinite retention of NSCs without consent, which constituted a breach of the Data Protection Acts 1988 and 2003. The complaint was subsequently upheld by the Commissioner, and a policy was developed to change the manner in which the screening programme operated.
The policy was developed in 2010 with the Deputy Data Protection Commissioner along with representatives of the HSE, Department of Health, and Children’s University Hospital, Temple Street. Addressing both the legislative and ethical requirements of the NNBSP, it provides that the blood portion of the NSC be retained for 10 years and disposed of during the child’s 11th year; the parents/guardians receive specific information on how the NSCs are to be used and the duration for which they are to be retained; the space be provided for a signature for written, explicit consent from the parents/guardians at the time the sample is taken; and a proposal be developed for the disposal of the archived NSCs within an agreed timeframe.
In 2011, following representations regarding the proposed destruction of NSCs, the then Minister for Health Dr James Reilly requested the HSE to review the policy. The review group reaffirmed the original decision and the Minister agreed to this recommendation in 2012.
During the following year, the HSE ran a public information campaign that informed the public of the existence of the archive of NSCs, the requirement to dispose of the Archive, and the option to request having their NSC returned to them if they did not wish their NSC to be disposed of.
On 25 March 2013, following representation by various interested parties, the Minister directed that the destruction of NSCs should not go ahead until legal advice had been obtained from the Attorney General and that the HSE was to proceed with fulfilling the requests already received, which was completed in 2015.
The State remains in breach of both European Union and national data protection legislation in relation to the retention of the Archive without consent. The Data Protection Commissioner has ruled that the NSC Archive should be destroyed.
The Forum, which was held on 27 October 2016, was designed to address these issues. Participants were asked about possible ways to resolve the data protection breach and the advantages and disadvantages of these approaches.
Some argued that it would be in the public interest for the Archive to be retained in order to allow research to be carried out, the results of which could potentially contribute to the overall health and wellbeing of the population.
It was also argued that the Archive had the potential to inform clinical and diagnostic decisions and examples of this were highlighted and later presented in the document arising from the Forum.
On the other hand, there were concerns that the public interest could be compromised by the use of data from the Archive for secondary purposes, ie, for purposes other than neonatal screening.
Concerns were expressed that the Archive was in breach of the law; that the integrity of the NNBSP, which has an uptake of 99.9 per cent, could be compromised; and there were costs associated with retention.
The two main arguments that were presented for retaining the Archive related to the research potential of the NSCs and their use in diagnosis and potential clinical treatment. The point was made during the Forum that the Archive is the only biological resource that covers “essentially” 100 per cent of the population, as unlike other archives it is not focused on one particular disease.
Yet it can also still shine a light on many individual diseases, such as identifying biomarkers for cancer. Some potential uses of research utilising the NSCs in the Irish context were also presented including: Estimating genetic drift; estimating the prevalence of new conditions; estimating the prevalence of early onset conditions that present in early life; and the potential to link the data collected with health records later in life through biobanking.
It was also suggested that there is a growing research demand and potential, particularly around the use of the cards to conduct large-scale genomics and other studies.
The importance of the public trust in the overall NNBSP, and the primary intention of the NNBSP to screen for specific diseases, was mentioned throughout the day
The example of sudden cardiac death (SCD) was highlighted during the meeting. It was reported that each year in Ireland there are about 110 cases where a person under the age of 40 has died suddenly and unexpectedly of a genetic cause. The only available tissue for genetic analysis relating to that person may be contained on his or her NSC. In these situations, it was suggested that identifying the gene mutation responsible for the death is important, not just to the first degree family members of the deceased, but to future generations in that family.
“The dry bloodspot card could be useful,” Consultant Cardiologist Dr Deirdre Ward, who attended the Forum, told the Medical Independent (MI).
“Other jurisdictions have used them and successfully used them to identify genetic causes in up to 25 per cent of cases. And the technology is evolving. It is not always possible to isolate good DNA, it depends on the state of the card, the technology used and the experience of the people doing it, but it is probably an area that will improve and our ability to extract DNA will improve,” added Dr Ward, who is also Director of the Centre for Cardiac Risk in Younger Persons in Tallaght Hospital.
At the Forum, there was no agreement on whether NSCs were necessary to gather this genetic information. It was noted that there are DNA samples from people who have died unexpectedly. Clarification was provided on the current Irish situation, whereby in February 2015, a new code was agreed between the Irish Coroners Association and the Mater Hospital’s Biobank enabling a blood or tissue sample to be taken from every individual in Ireland whose sudden unexplained death was potentially due to a genetic condition.
There was an obvious legal imperative to dispose of the Archive given it breaches data protection legislation in both Ireland and Europe. The view was expressed that complying with the law was the most important matter to resolve.
It was highlighted that the different legislative situations in respect of the NSCs depend on the time of data collection.
The first is the situation with the historical Archive from 1984 to 30 June 2011, for which consent for retention and/or secondary use has been neither sought nor received.
The second situation related to cases from 1 July 2011 onward, where consent has been obtained for screening and retention for 10 years, but not for any secondary uses, including research, for example.
The third related to the future of the Archive.
Two recent developments in Europe were identified as also being pertinent to the issue. First, the General Data Protection Regulation on the protection of individuals with regard to the processing of personal data was adopted by the European Parliament and the European Council on 24 May 2016.
The provisions will be directly applicable in Ireland from 25 May 2018 and will replace the current Data Protection Directive of 1995 (95/46/EC). Elements relating to sensitive data, such as health and genetic data, have a particular relevance to the retention of the NSCs.
In addition, there is a new set of recommendations about research on biological materials of human origin, which was adopted by the Council of Europe Committee of Ministers on 11 May 2016. These recommendations are related to the removal, storage and use of biological materials for research purposes, taking into account new developments in biobanking. These recommendations are also relevant for the Archive.
The view was expressed that under current data protection legislation, consent is not always necessary as a legal basis. It was argued, however, that if consent was not required, a case would need to be made for retention on the basis of public interest.
The importance of the public trust in the overall NNBSP, and the primary intention of the NNBSP to screen for specific diseases, was mentioned throughout the day.
Three potential solutions to the problem were presented. The first was, simply, that all the samples should be destroyed. This would have the benefit of ensuring compliance with the data protection legislation and would respect the rights of individuals and their privacy.
However, the significant drawback would represent the loss of a potentially significant research resource. The second option would be for specific legislation to be introduced. This legislation would need to be retrospective as well as prospective, to take account of the changes in 2011.
The third potential solution would be to put a legislative framework in place for the whole NNBSP. Attention was drawn to some states in the United States, where engagement with their respective NNBSPs is mandatory. It was suggested that the structuring of legislation to give clarity to the NNBSP might be welcome, although as there is already a 99.9 per cent uptake of the screening for six conditions under the current system, any changes to the legislative footing may create problems.
“From my point of view, I felt that the most sensible thing you could do was legislate for it,” Dr Ward told MI.
“Just because it is currently in breach of the legislation, doesn’t mean that new legislation couldn’t be drafted to take into account the potential use or need for the Archive. And I also believe there needs to be public engagement and we need to take people’s views into account.”
The Department of Health said it will consider the themes raised in the Forum’s report in its work on sealing the data protection breach and to inform a policy that is “respectful to all” and meets both legal and ethical requirements.
“The policy will provide for the retention, storage and secondary uses of both the archived and future Newborn Screening Cards and it is envisaged that it will be developed later this year,” according to a spokesperson.