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

Parental Knowledge & Understanding: Implications for Consent Approaches

Despite the apparent success of newborn screening, some authors have questioned whether such high uptake rates in voluntary programs reflect informed consent on the part of the parents, or a routinization of screening,[111,112] particularly in the context of less well-characterized conditions or where there is a lack of efficacious treatment. Several studies have sought to address this concern by exploring parental understanding as a prerequisite for parental consent or by assessing parents' awareness of choice and involvement in decision-making.

The assessment of parental understanding of NBS has largely been through knowledge assessment based on the accurate recall of information. Research in this area tends to suggest a latent awareness of the motivation for screening and how it will be conducted,[104,113] but a low level of specific knowledge regarding how screen-positive results will be dealt with, the names of conditions, or their major cause.[64,108,114–117]

Most worryingly, some parents do not have an awareness of the screening program,[118,119] and others do not know whether their own child has been screened.[61,88] In an Australian study with women who had received written and oral information, only 37% recognized the term 'Guthrie test' (a common colloquialism for newborn screening), 'heel prick test' or 'newborn screen'. Moreover, while 40.5% of mothers stated that their child had not undergone the test, records revealed that only 2% of infants had not actually undergone the test.[120] Given the State operated under a principle of 'informed dissent', this finding is somewhat disconcerting.

An important qualification, however, is that knowledge – assessed by recall of information – may be distinguishable from understanding, the latter more relevant to concerns regarding parental consent.[121] The correct recall of information may in fact belie a lack of understanding. For example, in a study in The Netherlands, Detmar and colleagues noted that, while participants recognized key terminology, they tended to do so without comprehension as to the purpose of the heel prick.[87] Consequently, asking parents to recall specific pieces of information does not specifically reveal whether information – such as the implications of screening – are understood. An older USA-based study found that while parents of children with hemoglobinopathies had been given – and could recall – the recurrence risk for future children, the majority could not explain what they had been told. As such, they may be viewed to be knowledgeable, if knowledge is assessed purely by recall of information, but the inability to explain this demonstrates a lack of understanding as to the meaning of the information.[122] Both of these examples indicate that parents' ability to recall specific information – such as recurrence risks – may not reflect an understanding as to the implications of disease or motivation for screening, both of which may be more salient and important with respect to maximizing the health of their child.[121]

processing....