Storage and use of Guthrie cards

Submission to the National Screening Unit's consultation on consent, storage and use of Guthrie cards - June 2007.

The newborn metabolic screening programme has been operating since the 1960s and now tests about 59,000 babies each year for 28 metabolic diseases. About 2 million of these cards, with identifying data, are held in permanent storage. A 2003 report by the Privacy Commissioner addressed some policy issues around these cards and combined with other public discussion on the topic, lead to a public consultation process [link no longer valid] being started by the National Screening Unit. This covered issues of consent, information for parents, storage time and who may access the cards and in what circumstances. Here is NZORD's original submission from June 2007 (an additional submission was made in October 2008):

Question 1 - Do you agree with the proposed content and availability of the parent/caregiver information brochure?

Yes, we consider this to be a good summary of the information that should be provided. There is always the dilemma of information overload that parents can be subjected to during pregnancy. This needs to be balanced with the need for quality information to assist the informed choice of the parents. We think the list of items achieves a good balance.

Question 2 - Do you agree with the proposed guidelines for obtaining consent from parents/caregivers to participate in newborn metabolic screening?

Yes, we agree. We note that these guidelines are for Lead Maternity Carers to follow in ensuring a sound and consistent process of informing parents about the programme and seeking their consent for the test. This is a
critical part of the whole programme and it is certainly in the best interests of the parents and the baby that there are good guidelines that are consistently followed.

These guidelines will help ensure that LMCs provide the service in a way that is consistent with Rights 4, 5, 6, and 7 of the Health and Disability Services Consumers' Code of Rights. These cover rights to services of an
appropriate standard, to effective communication, to be fully informed, and to make an informed choice and give informed consent.

Publication of these guidelines and education of LMCs about them will also be an important part of the quality systems for the newborn metabolic screening programme.

Question 3 - Do you agree with the proposed guidelines for recording newborn metabolic screening refusals?

NZORD believes it is important to record a refusal in the baby's notes and the Tamarki Ora/Well Child referral, but we see this as something that would be required anyway by professional standards, obligations to keep good records, and a duty to provide appropriate information in referrals.

We have reservations about the proposed guideline for submitting "refused" cards, even with the consent of the parents. We doubt this would provide significant benefit to the baby or their family. Any benefit is likely to be to the screening programme in terms of better understanding of reasons and adjustments to information provided, but this benefit is difficult to quantify and is not likely to be very substantial. Weighted against that possible benefit is the likelihood that sending in "refused" cards may be seen by parents who have refused, as a form of admonition by the system, and perhaps pressure to conform.

We think the first principle in dealing with refusals should be consistency with all other instances in the health and disability system where refusals are made, and we understanding that offering of additional information and recording of decisions made would be the standard practice. Despite our enthusiastic support for newborn mtabolic screening and constant surprise that any well informed parent would refuse this procedure for their baby, we do not think New Zealand values and social norms would support sending of information to the screening programme in relation to a refusal, and that such a proposal would be difficult to justify.

Question 4 - Should parents/caregivers be asked to sign a form to confirm their refusal of newborn metabolic screening?

NZORD suggests that the first guiding principle used in recording refusals should be consistency with the Code of Rights. This provides relatively few instances where the consumer's consent must be in writing (despite popular belief to the contrary) and does not specify any instances where refusal must be in writing. To add an expectation that parents should sign to confirm their refusal of newborn metabolic screening would not be consistent with existing provisions in the code, so if it was to be implemented there would need to be a significant justification for this new procedure.

The principle that would be advanced for the introduction of this procedure is the best interests of the baby. The consequences of a missed positive screen as a result of a parent's refusal are very significant indeed for the baby. Serious health problems, serious lifelong disability and death, are possible consequences of a failure to screen a baby that has one of the metabolic conditions screened for. The probability that the screening test would prevent or significantly mitigate these adverse outcomes is very high. In these circumstances we think there are compelling reasons for extra effort to ensure the information the parents have clearly conveys the seriousness, and that the consequences of a refusal are fully appreciated.

We note that some other jurisdictions make newborn metabolic screening mandatory on the basis of these interests of the baby, as well as the burden on the health system. There are compelling arguments in favour of a similar approach here in New Zealand but we believe that, on balance of competing rights and interests and given the way our systems operate, the current system of informed consent is the appropriate way to manage it. However we believe the best interest of the baby can be better protected if there is a requirement that parents who refuse are asked to sign a form to confirm their refusal. While this begs the question of parents who also refuse to sign to confirm their refusal, it does present an opportunity to ensure that the parent gets clear and unambiguous information about the risks of not screening. This would significantly decrease the likelihood that a refusal may be ill-informed or casual.

We therefore support a standard procedure that asks parents who refuse the test for their baby, to be requested to sign a form confirming their refusal, on the condition that the form clearly spells out the risks to the baby of a refusal. This suggestion is distinguished from our response to question 3 on the basis of who benefits.

Question 5 - Do you agree with the proposed guidelines for requests of newborn metabolic screening repeat testing?

Yes, we support these guidelines. We note that in these guidelines the LMC would be expected to advise if there is a refusal for the second sample. It is appropriate in these cases for the lab to be informed of this because there is a procedure in place for a baby and the procedure is not yet finished. The process needs to be resolved by the return of a second sample or by an explanation that a second sample has been refused, so that the duty of care on the part of the lab can be resolved. As with our suggestion in Question 4, we would expect that refusal of a second sample would also result in the parents being requested to confirm that in writing.

Question 6 - New Zealand Police access to blood spot cards.

NZORD considers that the current rules for access to blood spot cards are appropriate. However we suggest that these rules should be confirmed in legislation or regulation. While there is no history of any problems or inappropriate use by the Police, the nature of the genetic information, the privacy issues involved, and public apprehension about potential uses of such material and information, are all significant matters. Our conclusion is that the current good practice should be formalised into a more protective set of rules. We believe this will be of benefit for individual and societal interests, and indirectly beneficial for the screening programme itself.

Question 7 - How long do you consider blood spot cards should be stored for?

Of the options presented in the discussion paper we suggest age 21 as the date for destruction if they have not been requested back by the individual. This seems a suitable time by which all quality control measures would be completed in relation to cards of that age, when all family benefit issues are likely to be dealt with, and provides an opportunity for individuals to make choices about the return of their cards from around age 18.

To keep the cards any longer than a recognised age of maturity, when all quality control measures are completed and other benefits realised, simply begs the question that continued storage implies possible future use for other purposes, such as research. In other words, indefinite storage is not consistent with an intention that they will not be used.

NZORD's view is that a specific process should be put in place to provide for people to donate their cards for general or specific research purposes if they wish, and we think the timeframe of ages 18 to 21 provides opportunity for this, as well as those currently older people whose cards are still stored. This would clearly distinguish cards donated for public good research from those belonging to people who may have concerns about research use.

We note that some cards may have particular value for research purposes, such as those of individuals with rare diseases, and especially when the individual has since died. There could be considerable value in these cards for research and we suggest a planned approach to the question of donation for research by selected groups as well as by larger segments of the healthy population. One possible approach is a process of information aimed at those aged 18 and over, to make choices for: 1 - return of the card; 2 - donation to research; 3 - destruction.

Question 8 - Do you consider that this process of formal notification and approval from the NSU in addition to Ethics Committee approval regarding research requests for residual blood spots is an adequate safeguard for the programme?

Our answer to question 7, if implemented, would make this provision redundant. However in the event of a decision to continue indefinite storage it would be important to have a second layer of consideration of any research proposals after the proposal had been to the Health and Disability Ethics Committee. This would ensure the specific interests of the newborn metabolic screening programme, and the interests of those screened, are specifically focussed on and protected in any research proposals.

Details of respondent

NZORD is a charitable trust that works for the interests of those affected by rare disorders, and the groups that support them. We have a network of 137 rare disease support groups that we communicate regularly with. We cannot claim to represent this network or their views on this matter as we have not engaged in a detailed survey of their views on this particular topic. However we feel confident in saying that we reflect the commonly expressed views of many of the members and leaders of the support groups in our network.

These views have been obtained in a variety of personal communications, seminar attendances and policy discussion forums over the past seven years, where matters of consent, privacy and ethics have been widely discussed, alongside the opportunities that exist to improve health and disability outcomes by improvements to screening, testing, diagnosis, treatment and cures.

Many of the people involved in these discussions over this time have either a direct interest in newborn metabolic screening as affected families, or are in groups where they have an interest in the development of newborn screening technology for their disorder. Others have a close interest in many research and health policy issues, despite no medium term prospect of newborn screening being likely for their disorder. There is diversity of views among support groups, as for the rest of society, but in our experience the views expressed in this submission are likely to be supported by the substantial majority of support group members and leaders that have taken an active interest in topics related to research and services for rare disease patients and their families, and ethics and consent.

John Forman
Executive Director