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Information and consent for newborn screening: practices and attitudes of service providers
  1. N J Kerruish1,
  2. D Webster2,
  3. N Dickson3
  1. 1
    Department of Women’s and Children’s Health, Otago Medical School, University of Otago, Dunedin, New Zealand
  2. 2
    Newborn Metabolic Screening Programme, Auckland, New Zealand
  3. 3
    Department of Preventive and Social Medicine, University of Otago, Dunedin, New Zealand
  1. Dr N J Kerruish, Department of Women’s and Children’s Health, Otago Medical School, University of Otago, PO Box 913, Dunedin, New Zealand; nikki.kerruish{at}stonebow.otago.ac.nz

Abstract

Objectives: To gather information about the practices and attitudes of providers of maternity care with respect to informed consent for newborn screening (NBS).

Methods: A questionnaire concerning information provision and parental consent for NBS was sent to all 1036 registered lead maternity carers (LMC) in New Zealand.

Results: 93% of LMC in New Zealand report giving parents information concerning NBS, most frequently after delivery (73%) and in the third trimester (60%). The majority (85%) of LMC currently obtain some form of consent (verbal or written) for NBS from parents and consider this to be the ideal approach (94%). Despite this a significant minority of LMC (23%) reported considering that NBS should be mandatory. Of those in our survey who believed that NBS should be mandatory, paradoxically most (89%) still believed that some form of parental consent should be obtained; of those who believed testing should not be mandatory, only a small proportion (10%) would accept parental refusal without question.

Conclusions: When the results of this survey are considered in conjunction with existing evidence there appears to be a consensus that good quality information in the prenatal period should be an integral part of any NBS programme. The issue of consent is more complex and there is less agreement on the preferred degree of parental involvement in decisions to allow babies to undergo NBS. A policy that both strongly recommends NBS but also allows parental choice appears to be most consistent with the views of LMC in this survey.

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Newborn screening (NBS) is a public health activity aimed at the early identification of infants affected by certain congenital disorders, such as phenylketonuria and congenital hypothyroidism, for which timely intervention significantly reduces morbidity and mortality. Such screening is an accepted part of newborn care in developed countries and has been established in New Zealand since the late 1960s.

In New Zealand, NBS is publicly funded and has been governed by a unit within the Ministry of Health since 2005. All testing is undertaken at a single laboratory in Auckland, the National Testing Centre (NTC), which is closely linked to the clinical paediatric services there. Maternity care in New Zealand is publicly funded and all pregnant women are expected to choose a lead maternity carer (LMC) to coordinate care during pregnancy, birth and postnatally. This LMC may be an independent or hospital-based midwife, a general practitioner (GP), an obstetrician or a hospital team and is responsible for the heel-prick sampling of newborn babies. In New Zealand, as in Australia1 and many European countries,2 NBS is a normative but voluntary procedure, whereas it is mandated in most US states, although refusal on religious grounds is accepted in virtually all states.3

There has been considerable debate about informed consent for NBS,47 particularly as expectations for informed choice in healthcare have changed dramatically since the development of these programmes. Although evidence about parents’ views of the informed consent process is gradually accumulating,2 8 9 little is known about the views of healthcare providers routinely involved in the testing of babies. This study was designed to gather information about the practices and attitudes of LMC in New Zealand about informed consent for NBS. The results are used to inform a discussion of the interface between theoretical, practical and policy aspects of informed consent for NBS.

METHODS

The study was undertaken in 2002, when questionnaires were sent to all LMC registered in New Zealand by the NTC. One reminder was sent if no response was received within 4 weeks.

Demographic information was sought on the gender, age, geographical location and type of practitioner (midwife, GP or obstetrician).

Participants were asked in the questionnaire (see online appendix):

  1. When during the pregnancy or newborn period parents were given information about NBS and if they were how this information was delivered.

  2. How useful they found the pamphlet provided nationally for this purpose and for any concerns or comments they had regarding this.

  3. What, from a range of options, most closely reflected their current practice regarding informed consent.

  4. What they believed to be the ideal approach regarding informed consent.

  5. Whether they considered NBS should be mandatory, meaning that the parents were “not entitled to refuse”.

  6. What, from a range of options, they would be most likely to do if parents did refuse testing of their baby.

  7. The approximate number of pregnant women they had cared for in the previous year and how many families in this period had refused NBS for their baby. If this had occurred they were asked to write the reasons.

Finally they were asked for any comments on the questionnaire or NBS.

Ethics approval for the study was given by the University of Otago Human Ethics Committee.

RESULTS

Of the 1036 questionnaires distributed, 769 (74%) completed responses were received. The majority (85%) of respondents were women, with most (82%) from midwives, 13% from GPs and the remaining 5% from obstetricians, a reflection of the predominant role that midwives currently play in providing maternity care in New Zealand. Just over two-thirds (69%) were aged 40–59 years, a quarter (25%) were aged 20–39 years and 6% were 60 years or older. The geographical distribution of the respondents corresponded well with regional birth figures.

Information provision

Parents were reported to receive information on NBS from a wide range of sources. Most LMC (93%) reported giving them information themselves, of whom most (74%) did so on more than one occasion. Information was given either verbally (86%), using the leaflet produced by the NTC (80%) or in both ways (74%). In addition, many believed parents were also informed through antenatal classes (70%) or at the hospital where delivery occurred either verbally or through an information leaflet (40%). Most parents were reportedly informed about NBS after delivery but before the test (73%) or in the third trimester (60%). Some parents were informed during the first trimester (12%), second trimester (15%), at the time of the test (15%) or not at all (7%).

Whereas most LMC (80%) found the leaflet provided by the NTC “extremely” or “very” useful, a small proportion (13%) found it only “fairly” or “slightly” useful and very few (0.3%) “not at all” useful. Overall, 8% reported not using the leaflet. Comments received about the leaflet were that it needed to be available in more languages and that it should include more information about storage and future use of the samples.

Parental consent

Currently, no babies under the care of respondents were reported to be being tested without the parents’ knowledge (table 1). Approximately two-thirds (65%) reported parents were asked for verbal consent, and a smaller proportion (11%) that they were aware of the reason for the testing but were not specifically asked to consent to it. One in five (20%) currently requested written consent for testing alone, or for testing and storage of the samples after testing.

Table 1 Parental consent for NBS

When asked about “ideal” practice, the vast majority (94%) felt some form of consent should be given by the parents (table 1). Although just over half (55%) felt that there should be written consent, with most saying that this should consist of separate consent for testing and storage, a large minority (39%) felt verbal consent was adequate.

The most commonly held position was that NBS should not be mandatory, with 30% “strongly disagreeing” with this option and 31% “disagreeing”. Overall, 23% felt that NBS should be mandatory, of which 9% “strongly agreed” and 14% “agreed”. The remaining 11% were “neutral” or did not respond (5%).

The relationships between views on whether screening should be mandatory, and on what form of consent should be required, are shown in table 2. Even among those who felt NBS should be mandatory, the vast majority (89%) felt some form of consent should be obtained, with half of these considering this should be verbal and 39% written. Among those who disagreed that it should be mandatory, 35% favoured verbal consent and a greater proportion (62%) thought consent should be written.

Table 2 Relationship between opinion that testing be mandatory and ideal consent method

If parents refused to allow their baby to be tested, only 7% of the respondents would accept this without further action. Approximately two-thirds (64%) would “give more information”, whereas 13% said that they would “try to persuade the parents” and 10% would “ask the advice of other health professionals”. Other things that they might do included: advising future carers such as GPs, giving advice about early signs of the diseases being screened for and asking the parents to sign a dissent form.

The relationship between what the LMC would do in these circumstances and their views on mandatory testing is shown in table 3. Of the 23% who agreed that testing should be mandatory, most (84%) would give more information or try to persuade parents to allow their baby to be tested. Of those who disagreed with mandatory testing, the majority (64%) also preferred to give more information and only 10% would accept parental refusal without question.

Table 3 Relationship between opinion that testing be mandatory and how the LMC would respond to parental refusal

The total number of parental refusals documented was 298, just under 1% (0.8%) of the pregnancies cared for by the participants of this survey. Parental reasons for refusal given by respondents were: test “unnecessary” (46); concerns about the heel prick, eg, pain (36); an “anti-medical intervention” philosophy (21); concerns about storage and future use of the samples (18) and religious reasons (14). No reason was given in 34 cases.

DISCUSSION

There are two main findings of this study. First, we have confirmed the importance that those caring for pregnant women in New Zealand attribute to the provision of information about NBS. Second, we have illustrated the complexity involved when the public health aim of maximising the uptake of testing coexists with a commitment to respect parental autonomy, by finding a moderate degree of inconsistency in the answers concerning these issues.

The strengths of this study are that all LMC in New Zealand were invited to participate and there was a good response rate. The main weakness is that the survey reflects self-reported practices and attitudes of LMC concerning informed consent for NBS. We do not know how this correlates with parents’ opinions of how well informed they have been or how much input they were given to the consent process, although public consultation on consent, storage and use of newborn blood spot cards in New Zealand is currently under way.

Information provision

This study found that LMC give importance to providing parents with information about NBS, most doing so on more than one occasion. They also recognised that many parents receive information from other sources, and that although educational materials are useful, they require regular re-evaluation. Although this may improve the opportunities for parents to be well informed, it also means that high quality, consistent information must be available to prevent confusion. Despite the importance that most LMC seem to attribute to information provision for NBS we note that 7% reported not giving parents any such information. The reason for this is unclear, although we suspect that these LMC presumed, correctly or incorrectly, that parents were receiving the information from an alternative source, such as antenatal classes.

Comments from the participants highlighted the need to keep educational material current, not just in scientific detail but also on process issues. Despite no alteration in storage policy and practice (cards are stored indefinitely in New Zealand) and very few instances in which cards have been accessed for purposes outside the NBS programme, there appears to be an increasing concern among parents about “DNA databases” and some LMC feel parents would value more information on this topic.

These findings concerning information provision are similar to those from a study of UK health professionals by Hargreaves et al2 and several studies detailing parents’ views.2 8 9 This commitment to providing information about NBS is encouraging as the ethics literature acknowledges that limited or inadequate information may invalidate parental consent.5 In addition, pre-screening information has been shown to improve parents’ experiences of positive and false negative results.1012

Our results are consistent with the relevant local guidelines that state that “health professionals and the public should be kept well informed about screening programmes. Specifically, written information and the opportunity for discussion must be provided for parents before testing.”13 There is also wide international support for good quality information provision for parents about NBS and agreement at policy level concerning this.2 3 13 14

Parental consent

Our results show that the vast majority (94%) of LMC believe an informed consent process needs to be associated with NBS (table 1). This differs from previous studies that have reported greater variation of opinion among health professionals. A somewhat dated US study (1982)15 involving obstetricians, paediatricians, nurses and administrators reported 35–78% disapproval rates (depending on professional group) for a regulation requiring parental consent. A recent UK qualitative study by Hargreaves et al,2 involving midwives, health visitors, nurses, paediatricians and GPs noted views including that “screening should not be a matter of choice” and that there “should be a strong expectation that babies should be screened”. It is possible that our findings differ from others because of the high proportion of LMC in New Zealand who are midwives, who throughout their work and training now emphasise the importance of autonomy for pregnant women. Internationally, parents’ views also appear to vary: 86% of a recent Australasian sample of mothers favoured informed consent for NBS,9 but UK2 and US16 data suggest more variation in viewpoints. In their qualitative study, Hargreaves et al2 reported that most parents perceived testing to be “routine” and that some parents, particularly those with a child affected by one of the conditions screened for, favoured compulsory testing.2 The US study found that the majority of respondents supported mandatory testing because of concerns that some parents may refuse out of ignorance, whereas a minority argued in favour of voluntary screening that would require parental consent.16

We have illustrated the complexity of the issues involved in consent and mandating NBS, with individuals often having apparently contradictory views on these two related issues. This complexity probably also contributes to the variation in viewpoints about parental consent discussed above. Of those who considered that NBS should be mandatory, most (89%) still believed, somewhat paradoxically, that some form of parental consent should be obtained (table 2). Moreover, of those who thought testing should not be mandatory, only a small proportion (10%) would accept parental refusal without question (table 3). Whereas the term “mandatory” is frequently used in relation to NBS57 1618 its meaning may be ambiguous; dictionary definitions include “compulsory” and “required” and in this survey we stated on the questionnaire that we took it to mean “parents not entitled to refuse”.

Within public health in general an underlying ethical tension between individualism and autonomy on the one hand and solidarity on the other is recognised. In relation to genetic screening this can be articulated as the potential conflict between autonomy-based arguments for a right to know in order to promote one’s own (or one’s child’s) interests and the willingness to share information for the benefit of others.19

Ethical analyses that are primarily concerned with NBS, however, tend to focus on the potential tension between the interests of the child and parental autonomy, as explored in our survey. A minority of these argue in favour of NBS being mandatory because the potential for the early diagnosis of conditions such as phenylketonuria and hypothyroidism is so clearly in the best interests of the child and there is a very low risk of adverse impacts.3 Others have suggested that although screening must not be rejected due to communication problems, parents should ultimately be free to consent or decline.6 This line of reasoning recognises that healthcare decisions may reflect values that vary in socially acceptable ways among individuals, and that state involvement in childcare decisions, particularly in relation to health services, should only occur under extreme circumstances.7 In recognition of this position and the active role that parents should play in deciding about NBS for their baby, the term “informed choice” (rather than “informed consent”) has recently been introduced for NBS in the United Kingdom.2

A further recent analysis discusses the conceptual and practical difficulties involved in combining, in the same policy, concepts of parental choice and encouragement to screen in order to reduce the burden of disease.5 These two requirements may only coexist if one is given more weight than the other and in practice this means justifying some degree of influence over parents’ decision-making about NBS.5 Such an approach need not curtail parental autonomy in a practical sense, as refusals are accepted, but parents are encouraged to reason through their decision and listen to the evidence in favour.5 Our findings are consistent with this reasoning, in as much as only one in 10 of those who did not believe that NBS should be mandatory would accept parental refusal without question and the remainder would give more information, try to persuade the parents to change their mind or seek advice from another professional (table 3).

In general, the feelings of maternity service providers in New Zealand appear to be broadly consistent with the relevant local policy guidelines that state “Participation in an NBS programme should not be mandatory. Parents should be informed of the availability of testing.”13 Internationally, there is some variation regarding consent at the policy level in that NBS is still mandated in several US states (although parents can refuse on religious grounds in virtually all states),3 17 but is a matter of parental choice in other countries, albeit sometimes with a strong recommendation that it should occur.2 13 Some of the policy differences concerning consent can at least partly be explained by concerns related to the practicality of implementing informed consent policies.3 It is acknowledged that implementing an informed choice policy takes time and costs money,2 20 although this has been achieved without significant additional costs to the healthcare system.15 Other concerns include the potential for participation rates to decline if informed consent becomes a clear programme requirement, although several studies have shown that this does not occur in practice.15 21 22 These concerns may be exacerbated if there are requirements for separate consents, for example for storage and research use of samples or for newer tests.

In the context of standard NBS (such as for phenylketonuria and hypothyroidism), an attempt to combine the best interests of the child with respect for the autonomy of pregnant women seems the most ethically acceptable route available to policy-makers. If, however, there is significant uncertainty regarding the benefits and risks of screening then it may become ethically problematical to attempt to influence parents’ decisions. The tensions between parental autonomy and the interests of the child may thus become more complicated as more conditions are included in NBS programmes. For example, it has been suggested that lysosomal disorders may be the next group of conditions to be included in NBS,23 but not all are amenable to treatment and the cost of treatment may be prohibitive in some jurisdictions. Further on the horizon the balance between risks and benefits for DNA-based tests for genetic susceptibility to common multifactorial disorders remains unclear.24 25

CONCLUSION

This paper has highlighted the general consensus that information provision is an important aspect of NBS and should form a clear part of policy documents and guidelines relating to NBS. How and when parents are informed requires regular reappraisal, including obtaining the perspective of those practitioners actually undertaking the educative process. It is likely that information provision will become more complex as NBS expands and the appropriate level of detail will itself be an ethically contentious issue.

Although NBS originated at a time when the concept of shared decision-making in healthcare was not normative,7 there has since been a marked increase in health service expectations for informed choice and the right to refuse health interventions.26 In such an environment the views of all relevant stakeholders, including LMC, are important in developing policy that addresses the ethical, legal, and social issues that are part of NBS.3 This study supports the evolving position of a policy in which there is a strong recommendation of NBS for all children, and when parents are initially unwilling for this to be undertaken, that care should be taken to ensure that they are fully aware of the potential benefits and negligible possibility of harm. Any such policy, and the reasons behind it, should be made transparent and explicit,27 and in implementing this approach clinicians must be mindful to ensure that the “liberty to influence” parents is not translated into a “duty to persuade”.5 Just as information provision will become more complex as NBS expands, so will the evaluation of potential tensions between parental autonomy, interests of the child and the views of health professionals. It therefore remains important to continue to reflect upon and research these ethical, legal, social and practical issues over time.

Acknowledgments

The authors are grateful to Professor Nicola Peart and Dr Lynley Anderson for helpful comments and advice during the design of the study.

REFERENCES

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Supplementary materials

Footnotes

  • Competing interests: None declared.

  • Funding: The study was funded by the National Testing Centre and a Masonic Child Health Fellowship awarded to NJK.

  • Ethics approval: Ethics approval for the study was given by the University of Otago Human Ethics Committee.

  • ▸ The questionnaire is published online only at http://jme.bmj.com/content/vol34/issue9

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