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 & Consent Processes

The rationale for mandated screening is often predicated on the serious and preventable nature of the diseases, by concerns regarding feasibility or costs, or by concerns regarding parental refusal based on misconception.[1,91,93] The expansion of screening in some jurisdictions to include conditions where both natural history and clinical intervention have been less well characterized, together with an increased emphasis on information provision as a benefit of newborn screening, has prompted renewed discussion about consent processes for NBS.[18,42,58,61,71,94–97] At one end of the spectrum are programs where non-participation is essentially not an option: for example, most newborn screening programs in the USA are officially mandated, although in most states parents may refuse for personal or religious reasons.[54,98,99] This position has been supported by several professional bodies.[99,100] In the US state of Nebraska, for example, screening is mandatory without exception.[101,102] In other states, while parents are able to opt-out, studies indicate that often parents are not afforded the opportunity to consent or are poorly informed about the opt-out option.[9] At the other end of the spectrum lie jurisdictions, such as the UK, in which screening is offered explicitly on a choice basis.[103] In a number of Canadian jurisdictions, screening is presented as standard of care with the view taken that screening occurs by default unless there is a specific objection by the parents.[104–106]

In part, concerns regarding feasibility may depend on how practitioners conceive of consent and the requirements that this would impose.[106] Miller et al. note that while some healthcare professionals felt that informed consent for newborn screening was not practical "[…] because you'd have to go into a discussion about every single disease that you can test for and every single result you can possibly get" others indicated a less complex view of the requirements to obtain informed consent and that "it's not time-consuming to do and people get it".[106]

Empirical data also suggest that concerns regarding increased refusal rates under voluntary programs appear to be unfounded. Uptake of NBS is consistently found to be almost universal.[45,88,98,107–109] Even with optional screening programs, for conditions such as DMD, and less predictive screening tests (such as Type 1 diabetes), uptake rates have been found to be consistently high with 94–95 and 94%, respectively.[45,61] A recent UK study that sought to evaluate models of decision-making found that increases in perceived choice – that parents felt a choice was available and they were able to make a choice – were positively and strongly associated with greater perceived knowledge of screening and indirectly with more positive attitudes toward screening. Both more positive attitudes toward screening and increased perception of choice were significantly associated with less conflict in decision-making.[110] As such, rather than increasing the potential for ill-informed refusals, facilitating a perception of choice may in fact evoke more positive attitudes toward screening and improved decision-making while potentially improving understanding.

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