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

Screening Uptake & Perceptions of Choice

One potential explanation for the high levels of uptake may be that the outwardly promoted requirement of parental decision-making – be this through an opt-out informed dissent process or opt-in informed consent model – is experienced by parents as 'institutional rhetoric'. This supposition finds support in findings that parents experience screening as routine and not a choice.[114] Studies in the UK are particularly illustrative here as newborn screening is ostensibly provided on the basis of an informed choice,[123] where parents have been shown to view newborn screening as routine[124] and a 'fait accompli'.[115] In a Welsh study it was found that, when a second card for an optional screen for DMD was introduced, it led to a significant increase in parental awareness that the test was optional. Despite this, 15% of those involved in the intervention arm did not realize the test was optional and a small minority felt that they did not have a choice, despite the explicit nature in which it was provided. This led the authors to conclude that: "It would seem that, although the majority of mothers felt they were being given a choice about screening, for some it was a choice about a test they thought was always done. This, in reality, is no choice at all".[125] In a more recent UK study Nicholls and Southern noted that parents talked about the 'proceduralization' of screening: the structure of the healthcare system meant that one process led to another creating the perception that screening was just part of a larger system of care that is initiated following the birth of the child.[126] However, examples of routinization are not restricted to the UK. Research in The Netherlands regarding parental experiences of screening for congenital hypothyroidism found that most parents saw screening "as a routine business that no one ever hears about again, and that people do not give much thought to".[127] In a further study in The Netherlands, Detmar et al.[87] noted the same routinized attitude. Other studies have noted that parents even reported that the taking of blood for analysis was conducted in their absence, obliterating any notion of informed consent.[84,127]

Notwithstanding these findings, there is evidence that at least some parents welcome a recommendation from a healthcare professional. Australian research has found that, while some parents felt that they had not given a specific consent, most were unconcerned by this.[128] UK research suggests that parents are happy to accept a routine screen that is recommended by their midwife, with some parents commenting that "If they had been offered a choice, many said they would have opted for their child to be screened".[114] As a result, the mere offer of a screening test may result in a sequence of events that, under the prevailing social norms, means that one's actual experience of 'choice' is that there is no choice at all. Thus the ability to provide an informed consent is not merely about having the facts to make a rational choice. The findings that parents do not necessarily experience a choice may also indicate more subtle pressures are being exerted, such as the way that the screening tests are offered, the information that is provided and the institutions or individuals that provide them.

Consent has been raised as a subject more recently within the additional context of the secondary use of residual bloodspots. These samples may be stored for years for the purpose of repeat testing, quality control, or testing as part of diagnosis.[9] However, they may also be used for purposes beyond the screening program, including external quality assurance and research, or for investigative purposes: for example, in The Netherlands it was proposed that residual bloodspot samples could be used to assist with forensic analysis following an explosion at a fireworks factory.[129,130] Concerns over privacy have led to several high profile legal cases and media interest in the US[67,116,129,131–133] and ultimately changes in storage policy and the destruction of millions of dried bloodspot samples.[132]

Concerns regarding the storage of samples have featured in discussions about public attitudes toward screening, often linked to questions of consent and whether parents should provide explicit consent for storage of residual bloodspots. These reported concerns range from treating children as research 'guinea pigs' and the type of research undertaken, to general concerns regarding the lack of awareness about research on samples.[61,67,134] However, despite the general lack of awareness,[104] when prompted, parents and the public tend to be supportive of medical research using these bloodspots, often with the caveat that they are de-identified and steps are taken to protect privacy.[67,134–136] As with attitudes toward screening in general, when the goals of research are for the primary benefit of the child or families affected by the conditions for which research is undertaken, then support is generally stronger than the use by for-profit organizations, or in non-health-related contexts such as criminal investigations.[67] Irrespective, parents tend to indicate a preference for informed consent approaches.[136]

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