No research projects involving newborn baby blood-spot cards have been approved since rules for managing the national card collection were introduced more than two years ago.
Two proposals have received ethics committee approval, as required under the 2011 policy framework, but they have yet to gain final sign-off from the Ministry of Health.
The collection contains more than 2 million blood-spot cards, known as Guthrie cards, collected from babies since 1969 under the Newborn Metabolic Screening Programme to diagnose more than 20 metabolic conditions.
Concern about the lack of proper rules governing consent, retention and access to the samples led to the development of the policy framework. In July 2010, Cabinet decided the cards should be kept indefinitely but made no announcement about that until the following year.
Among those involved in consultations about the policy, there was considerable discussion behind closed doors about the merits or otherwise of this, including concerns about the widespread lack of public awareness the blood spots had been kept after the screening procedure.
Under the rules developed, any research on blood left over after screening must be considered an appropriate use of the blood-spot samples and contribute to the public good through increased scientific knowledge.
As part of the approval process, if researchers want to use blood collected before June 2011 they must get individuals' written consent, but parents who have agreed to screening after that time are deemed to have given permission for research through the new consent procedure.
The two proposals being considered by the National Screening Unit highlight the different processes. One would not require specific consent to be given because the cards are post-June 2011, while the other one involves earlier cards and therefore individual written consent would be needed.
In an email response to questions, National Screening Unit (NSU) group manager Jane McEntee said the unit had asked for further information about both of the research proposals.
One of the projects is being led by a consultant employed part-time by the NSU and a member of the programme's governance team, Starship Hospital consultant metabolic paediatrician Dr Callum Wilson. It involves one of the conditions the programme tests for: very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency.
People diagnosed with this have difficulty converting certain fats into energy and should not go for long periods without food. It can cause severe symptoms, and even death, if children with it are exposed to significant environmental stress such as infection.
This deficiency is one of nine fatty acid oxidation disorders the programme screens for.
About five children a year are found to have one of these disorders.
In the application to the Northern A Health and Disability Ethics Committee last year, Dr Wilson said since screening began in 2006 for the chemical indicative of VLCAD deficiency, known as C14.1, New Zealand had a high incidence of babies with high levels of the chemical. However, this did not result in high numbers of infants later exhibiting the disease.
It was suspected the ''vast majority'' of cases of elevated C14.1 shown in newborn screening results represented a high prevalence of a particular genetic variation in the Maori population which was a benign variant.
The research would test this hypothesis by looking at the natural history of 120 untreated cases, whose cards showed the elevated C14.1 levels, over a one-to-six-year period.
The families of these babies were not contacted by the Newborn Metabolic Screening Unit after screening as it was felt they most likely did not have disease.
Mortality and hospital admission data of those with elevated levels would be compared with a control group of those with normal levels. In selected cases where hospital admission data suggested a VLCADD illness, medical charts would be reviewed.
''We really have little option but to undertake this study. We continue to identify newborns with elevated C14.1 levels and while we suspect this does not reflect disease risk we cannot be sure,'' Dr Wilson said.
If the study suggested there was a risk of disease then ''we will start contacting families in the future'', or if it showed there was not ''we will stop testing for the C14.1 metabolite''.
In his application, Dr Wilson said none of the participants in the research would be required to give informed consent. Informing families would only cause ''undue worry for what we expect is a benign condition''.
The disorder would mainly cause illness during the first two years of life and the risk would be exceedingly small now participants were older.
''Thus, rather than cause undue alarm for what is likely to be an extremely small risk, we do not plan to inform participants of any clinically significant findings.''
In its consideration of the application, the committee discussed the implications of not returning the results to parents if the study revealed that cases were undiagnosed and deaths resulted. The committee asked Dr Wilson to outline in writing his rationale for not sharing results with parents .
In his response, he said at most, elevated C14.1 was a risk factor and the presence of subsequent disease was reliant on significant environmental stress.
If this had occurred in a case and resulted in disease then this risk would apply to other cases and all families would need to be contacted.
Contacting 180 families would be a considerable and unmanageable workload for the clinical metabolic service.
''The study investigators also feel this would cause undue stress to families for what we believe to be a small, if any, risk.''
Dr Wilson said contacting all the families could also result in negative publicity for the screening programme and ''thus could affect future uptake of the service''.
It was accepted practice for ''confidential studies'' such as this not to report the individual findings back to families, he said.
In the ethics committee process, it appeared there was confusion about the date on which the consent process for the Guthrie cards changed, with both Dr Wilson and the committee wrongly stating it was after June 2010, rather than after June 2011.
The committee has since clarified it was only approving the use of samples collected after June 2011, when specific individual written consent would not be required (the NSU has also confirmed education is planned for ethics committees on the protocols surrounding the Guthrie cards).
Ms McEntee said the other research request involved accessing and testing blood spots for vitamin D.
The researchers had made a presentation to the NSU and it had asked for further information on the proposal. This proposal is part of a comprehensive longitudinal study on New Zealand babies called the Growing Up in NZ study, which received ethics committee approval in 2008.
All the cards which would be involved in this research were pre-June 2011, she said.
The study involves almost 7000 children born between April 2009 and March 2010 (and their families) from the Auckland, Counties Manukau and Waikato district health board areas.
Information from the cards would be used to look at the effect of vitamin D status at birth on later health.
Vitamin D deficiency in young children can lead to rickets, a disease where soft bones can result in deformities (such as bowed legs) or fractures.
At this stage, it is not known when decisions on the research proposals are likely.
Guthrie cards
Research using Newborn Metabolic Screening Programme baby blood spot cards. -
• Must be considered an appropriate use of residual blood spot samples and contribute to the public good through increased scientific knowledge
• May not use all residual blood from cards
• Requires ethics committee approval, review by the Newborn Metabolic Screening Governance Team and Ministry of Health approval
• Requires written consent (the parent or the grown-up child) for each individual blood spot sample if spots collected before June 2011 are to be used.
Leftover blood after screening may also be used for. -
• Repeat testing, if needed.
• To make improvements to the screening programme.
• To investigate unexplained illness or death in a family/whanau.
• For forensic use (identifying a dead or missing person or assisting with inquiries such as identifying victims of a natural disaster or crime). This is governed by a memorandum of understanding with the New Zealand police.
• Parents/guardians can request the return of children's cards at any time and anyone 16 or older can ask for their own. In the five years to the end of 2012, the number of cards returned annually ranged from 561 (2008) to 659 (2012).
