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

Public Attitudes & Understanding of the Benefits & Burdens of Newborn Screening

While there has been debate as to the appropriateness of screening criteria, the catalyst for much empirical research has been the principle that the test should be acceptable to the population, as presented in the original principles established by the WHO.[60] Consequently, much research has focused on public attitudes toward screening – particularly the inclusion of conditions that do not meet the WHO standards – as well as parental views on the benefits obtained from screening. This body of research tends to indicate that the views of parents, as well as the public, are largely consistent with established criteria, with treatment being first and foremost in parents' minds, with additional benefits being deemed to be secondary to the care of the child.

In qualitative studies undertaken in the USA, parents articulated a greater degree of support for screening for PKU than for DMD.[61] In part the perceived benefits were derived from the interventions available for the child. Findings from The Netherlands concur, where, across four different screening scenarios, 'medical treatment options' were a frequently mentioned benefit.[62] Similarly, focus groups with parents in the USA identified medical treatment as the most consistently mentioned benefit of newborn screening, although early identification of disease in the absence of curative therapies was still seen as a benefit.[63]

Other studies have reflected the expansive notion of benefit in terms of moving from medical treatment to broader consideration of interventions, while retaining a primary focus on the benefits to the child. Hasegawa et al., for example, note that parents in the USA supported newborn screening for 'untreatable disorders' on the basis that the information would facilitate families and healthcare professionals assisting the child through earlier diagnosis and interventions to improve care.[64] Other studies across different jurisdictions have generated similar results, with the public supportive of newborn screening for directly treatable disorders, but also conditions where benefits may be through interventions to prepare for any special needs required by their child.[65–70] These studies tend to replicate professional debates with recurring themes of the risk to the newborn, utility of the information generated, and potential for preparation or to inform future reproductive choices.[71] One explanation for this high level of support may be a general inclination to promote beneficence: the potential to screen children and generate information that could improve health, either through access to treatment or services, is viewed as valuable.[72] An important caveat is that in many cases, those interviewed or surveyed have not experienced newborn screening (as a parent) or have only experienced a screen-negative result, and it may be that experiences of false- or true-positive results provide a different perspective. This is reflected somewhat in research with parents whose children were diagnosed with cystic fibrosis and where their experiences and attitudes reflected both the benefit – clinical interventions together with relief from uncertainty generated by receiving a diagnosis – as well as potential harms when such a diagnosis is unexpected.[73] As such, screening experiences are a balance of benefits and burdens.

A body of research is now emerging on the management of information regarding newborn screening and parental responses to screening results. Specifically, great attention has been paid to how any potential negative effects can be mitigated,[49,74–76] and the potential negative implications associated with false-positive results, such as parental distress or impaired parent child bonding.[35,76–79] Studies of responses to screen-positive results indicate that while many parents do not suffer substantial long term ill effects, some parents may exhibit anxiety, distress or worry,[35,75–80] which may in turn lead to hypervigilance,[49] although other studies point to no differences in parental stress between parents receiving information regarding risk and those serving as controls.[81] Grob, for example, recounts one mother's experience with a positive screen for cystic fibrosis, after which she recalls calling the hospital multiple times whenever her child appeared to be breathing heavily.[73] For families who receive an initial screen positive result that is later dismissed following diagnostic testing – a 'false-positive' – studies have indicated that mothers have higher levels of stress compared with those mothers of children who receive a negative screen,[74,75] again potentially leading to hypervigilance and overprotectiveness.[74] These results are likely transient in the majority of cases,[82,83] although a systematic review of the effects of disclosing carrier status suggests that concerns may persist in a minority of parents even when diagnostic testing has confirmed that their child is not affected but a carrier.[49]

Several studies point to steps that can be taken proactively, and indicate that education and improvement in parental understanding may mitigate some of the psychosocial harms.[74,84] This can be further facilitated by the approach to information delivery, with a consistent finding being that parents express a preference for information in the prenatal as opposed to the immediate postnatal period.[85–88]

A particularly burdensome aspect of information management for both parents and newborn screening programs arises when initial results are not be clarified by diagnostic testing. In their USA-based research, Timmermans and Buchbinder note, for example, that while the vast majority of parents who receive an initial screen-positive result will present for further diagnostic testing that reveals the result to be a false positive, and a small percentage will be true positives, a number will receive a result of uncertain clinical significance.[89] This, they argue, has led to a population of 'patients-in-waiting' where, rather than preventing the diagnostic odyssey, expanded screening has created a situation of diagnostic uncertainty in which there is both biological and social ambiguity – the clinical significance of the results is not established nor are the actions required on the part of the family.[89] These authors also noted that parents reported concerns about bonding with their child for fear of compounding their grief should the child become sick or die.[89,90]

This, it is argued, is partly facilitated by contradictory messages from physicians and specialists: the conditions are rare and thus a high proportion of positive results are false positive, and so in effort to avoid creating undue anxiety, clinicians may tend to be reassuring about the probability that the child is affected; while at the same time they urgently advise diagnostic evaluation. In the event that diagnostic results are uninformative (i.e., disease cannot be ruled in nor out), these messages about low probability yet urgent testing are hard to reconcile so that it is challenging for families to evaluate the degree of risk for their child. This has been noted with respect to the initial presentation of screening in which parental concern is tempered yet the importance of screening is emphasized, something Nicholls has referred to as the 'dualistic representation' of newborn screening.[72]

In each of these examples, the burden relates to the management of information – by both parents and newborn screening programs – and expectations as well as parental understanding of the meaning of screening results. This has been referred to as the burdensome nature of knowledge[39] or the communicative burden,[91] and despite ongoing research regarding approaches to mitigate potential psychosocial harms, there remains a substantial knowledge gap in how best to provide initial information to parents and a need to establish an evidence-base for informing parents about newborn screening.[92]

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