Parental responses to newborn screening for genetic susceptibility to Type 1 Diabetes.
Kerruish, Nicola Jane
Advances in genomic medicine have lead to considerable debate over the potential for 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. In this thesis I aim 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. In the first section of the thesis (chapters 1 to 3) I provide background to the debate over newborn screening for genetic susceptibility to common disease. To achieve this I first examine what newborn screening currently involves, noting in particular its complexities, how target disorders are selected, and how this process has evolved over time, before reviewing the existing evidence base concerning parents’ psychosocial reactions. I then describe recent advances in “genomic medicine”, focusing particularly on type 1 diabetes to explain and explore how such complex disorders differ, in important ways, from those traditionally included in newborn screening panels. In the second part of the thesis (chapters 4 to 7) I present the findings of my own empirical research. Firstly I describe a quantitative analysis of the psychological impact that newborn screening for genetic susceptibility to type 1 diabetes has upon mothers. To achieve this I report a prospective study involving administration of a range of psychological questionnaires to three mother-baby cohorts: 38 infants at increased genetic risk of type 1 diabetes, 73 at low risk and 76 who had not undergone testing. The results indicate that such screening is not associated with elevated levels of maternal anxiety, depressive symptoms, or heightened perceptions of infant vulnerability in the first postnatal year. I then present qualitative data from 11 semi-structured interviews conducted with parents of children who had received increased risk results in a study involving newborn screening for genetic susceptibility to type 1 diabetes. These data illustrate that while parents generally report fairly minor levels of concern in response to increased risk results, their reactions are much more varied, complex and dynamic than those described in relation to existing newborn screening programmes. In conclusion I argue that while it may be somewhat reassuring that parents do not suffer clinically significant levels of psychological harm in relation to newborn screening for genetic susceptibility to type 1 diabetes, the more subtle, complex and ongoing reactions described in the qualitative component are likely to be of considerable importance in terms of ethical analysis and policy development. Newborn screening for genetic susceptibility to complex disorders should not be considered for clinical application until psychosocial responses are better characterised and the implications of these reactions more completely understood.
Advisor: Evans, Donald; Robertson, Stephen
Degree Name: Doctor of Philosophy
Degree Discipline: Bioethics and Women's and Children's Health
Publisher: University of Otago
Keywords: Newborn screening; Psychosocial effects
Research Type: Thesis