Parents' experiences of newborn screening for genetic susceptibility to type 1 diabetes

Abstract

Advances in genomic medicine have lead to debate about the potential inclusion of genetic tests for susceptibility to common complex disorders in newborn screening programmes. Empirical evidence concerning psychosocial reactions to genetic testing is a crucial component of both ethical debate and policy development, but while there has been much speculation concerning the possible psychosocial impact of screening newborns for genetic susceptibilities, there remains a paucity of data. The aim of the study reported here is to provide some of this missing empirical evidence, using type 1 diabetes as an example of a common disorder with multiple significant genetic contributors to its aetiology. Semi-structured interviews were conducted with 11 parents of babies who had received increased risk results in a study that involved newborn screening for genetic susceptibility to type 1 diabetes. Interpretative phenomenological analysis was used to evaluate the data. The interview data suggest that the probabilistic nature of results of genetic susceptibility tests impacts upon all aspects of parents' psychosocial reactions, resulting in a complex and dynamic process quite different to that described in relation to current newborn screening programmes. While parents generally reported fairly minor levels of concern in response to news of their child's increased genetic risk, these worries frequently recurred, and perception of risk also varied and fluctuated over time. Both individual and contextual factors appeared to interact with the inherent uncertainty of the test result to contribute to the dynamic nature of parental reactions, and their behavioural responses. The implications of these findings for future research and for the debate concerning potential expansion of newborn screening are discussed.

Public Perceptions of the Benefits and Risks of Newborn Screening

“…[8][9][10] Given the public interest in a careful balance between the benefits and burdens of programs that enroll large portions of the public and measurably affect the public's health, there is a need to start "discussing screening with the public" 11 to understand the nature of public expectations.…”

“…Evidence suggests that infant screening is valued by invested stakeholders (parents of NBSidentified infants, clinicians) [8][9][10][12][13][14][15][16] and members of the lay public. 1,17 Yet, little is known about how the different benefits of screening are independently valued, and thus what types of benefits give warrant to NBS.…”

Parents’ experiences 12 years after newborn screening for genetic susceptibility to type 1 diabetes and their attitudes to whole-genome sequencing in newborns

“…11,14 The study described here forms part of a comprehensive continuation of this arm that aims to investigate later psychosocial effects. This article describes data from a single interview conducted with mothers of children at increased genetic risk for T1D 12-13 years after newborn testing.…”

“…Questions covered the following: parental understanding of the meaning of the test result; disclosure of the test result to the child; impact of the result on parents, child, and family; parental assessment of harms and benefits; and parental views of the potential for this type of test to be used at a population level, for example, in NBS programs. These question areas were developed in response to preexisting research 9,11,14 and recommendations that have been made concerning the need for further empirical analysis. 9 Interviews were audiotaped, transcribed verbatim, and analyzed using thematic analysis.…”

Public attitudes towards genomic risk profiling as a component of routine population screening

“…Even though T1D screening fails to meet the WHO screening criteria (Wilson and Jungner 1968), not least because there is no preventive intervention, a number of studies are exploring the potential for T1D susceptibility testing in infants, including The Environmental Determinants of Diabetes in the Young (TEDDY) trial (Hagopian et al 2006), the Key Environmental Aspects of Type 1 Diabetes (KEA) study (Kerruish et al 2007;Kerruish 2011), and the Environmental Triggers of Type 1 Diabetes (MIDIA) study (Aas et al 2010). In addition, some states in the USA have piloted projects for newborn T1D screening (Hiraki et al 2006;Ross 2003).…”