Benefits and Burdens of Newborn Screening: Public Understanding and Decision-making

Stuart G Nicholls; Brenda J Wilson; Holly Etchegary; Jamie C Brehaut; Beth K Potter; Robin Hayeems; Pranesh Chakraborty; Jennifer Milburn; Daryl Pullman; Lesley Turner; June C Carroll

Disclosures

Personalized Medicine. 2014;11(6):593-607. 

In This Article

Benefits, Burdens & Individual Decision-making

Despite the research regarding public attitudes toward the benefits and burdens of screening, their understanding of screening and experiences of consent approaches for screening, these studies in and of themselves tell us little about individual parental decisions. In this regard there is a much thinner evidence base. Studies of parental decision-making suggest a dominant factor is the perceived benefit of screening. However, these perceptions are informed by more general attitudes towards medicine.

Studies support the use of broader notions of benefit in parental decision-making, and specifically the role that information obtained from screening can provide with respect to empowerment. Parsons et al.,[137] for example, noted that the majority of reasons given by parents for accepting screening for DMD related to themes of gathering knowledge. As with the attitudes expressed by parents towards newborn screening, much of this knowledge-seeking was related to benefiting the health of the baby through better knowledge of the condition, time to prepare, and the ability to get early help.[137] This is not to say that all parents want the screening results. In the same study, a cited factor for declining screening was the desire not to know. Thus knowledge may be central to decision-making, but not deterministic of the direction of the decision.

This is evidenced by parental discussions of scenarios, such as screening for DMD, in which some parents suggested they would refuse screening because of the lack of benefits, broadly construed.[61,137] This is clearly illustrated in the response of one mother in a UK study who regretted having a screening test for DMD and who indicated she would have refused had she known that the disease was untreatable.[138] In one of the few studies to actually explore parental decisions, researchers, again in Wales, UK, found that the majority of parents who declined newborn screening for DMD on the basis of 'disease detection' reasons offered the argument that the lack of a cure was a factor in their decision to decline.[137] The finding that the health of the child is regularly invoked as the main reason for having the screening is not only consistent with the original principles on which newborn screening was based,[60] but is also in line with the moral principle of beneficence. This moral position appears to guide parents when weighing the potential risks and benefits of screening, with a willingness to accept some harms if they are outweighed by the benefits. As parents in one study put it: "[…] But when she's born, I'd rather know if there was anything wrong with her to try and treat her".[72] Thus the perceived health benefit, or potential health benefits, brought about by NBS are instrumental not only for their support for the screening program generally, but also for their own decisions to have their child(ren) screened.

Several studies suggest that these specific attitudes are mediated by the parents' general attitudes towards medicine. For example, parents who offered reasons why they accepted newborn screening for DMD, did so due to a belief in research, support of screening in general and the simplicity of the test.[137] For those who refused, a wish to avoid medical intervention and a perception that the test would not aid research were also given. This association between general attitudes towards medicine and specific attitudes toward screening – and subsequent influence on decision-making – has been explicitly noted in subsequent studies. Nicholls and Southern found that positive general attitudes toward medicine were significantly associated with more positive attitudes toward screening specifically.[110]

These general and specific attitudes may be a direct result of parents' own experiences or those of a trusted acquaintance.[72] A further study from the UK noted that some parents refused screening because they actively avoided medical input, and that one family refused because they thought that the screening test was a barbaric procedure based on the experience of an acquaintance.[139] In part this may be mediated by the role of the parent-healthcare professional relationship, as noted by Parsons et al.[115] and Muchamore et al..[67] In both studies trust in the midwife or healthcare professionals was an important factor in parental decision-making, even overriding the need for information in some parents.[115] Nicholls and Southern suggest that the provision of screening on a population-wide scale by a trusted healthcare professional may be seen to imply that screening is beneficial. In a context of healthcare rationing where some treatments were funded and others not, the wholesale provision and support for newborn screening indicated to parents that a process of evaluation and decision-making had taken place, and the provision of screening indicated its worthwhileness.[72] Trust in the medical profession may, therefore, be a causal element in determining that screening is beneficial, due to the fact that screening is offered by the medical community. These findings signal the importance of trust in the system of governance for screening programs and why researchers and practitioners must be mindful of how issues such as the secondary usage of residual bloodspots may play into attitudes toward screening programs and, ultimately, uptake.

The role of trust in individual decision-making may also help inform our understanding of perceptions of choice for newborn screening. If screening is offered by a trusted source, this may be taken by parents as evidence to imply that screening is beneficial. If testing is perceived to be beneficial, it may also be perceived that there is no choice to be made: if one has already established that conveying benefit to the child is the correct moral position, and screening conveys a net benefit, then screening is the correct choice. It is not a preference-sensitive decision.

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