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
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
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
''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
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,
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,
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
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.
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
• 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
• 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).