Abstract
The review of the psychosocial effects of newborn genetic susceptibility testing has highlighted the fact that there are several good reasons to be concerned about such testing. These include features inherent in the newborn period; characteristics of the tests themselves; and evidence from previous and current newborn screening programmes. There remains a relative paucity of empirical research in this area but evidence, including the results of research for this Report, is gradually accruing to suggest that families generally cope well with type 1 diabetes (T1D) genetic risk information concerning their children, if it is conveyed sensitively. At this stage, the research remains fairly limited both in focus and duration and the need for further research in this area has been highlighted.
Screening children for susceptibility to certain diseases which have a genetic base, for example T1D, has the potential to enable parents to ensure that the environment is appropriate for a child with the susceptibility. The major concern about widespread uses of such screening is that parents may overreact if they find out the child has a susceptibility to diabetes and overprotect the child.
Three mother-baby cohorts are studied: thirty-eight infants at increased genetic risk of T1D, seventy-three at low genetic risk and seventy-six who had not undergone testing. Our main focus was to see whether or not the parents who knew of the risk would have an urge to overprotect their child and to be overly zealous about surveillance. In fact, the outcome was surprising. The group of parents who knew their child had an increased risk of T1D were in fact lowest on the anxiety scale in terms of how they related to their child. This is only preliminary research but it does show that information about a child’s risks does not necessarily lead to parents becoming over-anxious. There is potential for such information to empower parents to ensure that the environment is healthy for the particular child.
Achieving a proper balance between the social good that may come from performing this type of research involving children, and the level of protection offered to child participants, is a significant challenge. Such research itself involves complex ethical and social issues.
Particular attention must be given to minimising risks to children and implementing procedures for obtaining the informed consent or assent of parents and child participants when screening newborns for genetic susceptibility for common diseases.
Empirical research concerning the potential psychosocial harms of newborn susceptibility testing is essential if we are to make rational decisions regarding the use of such tests. Analysis of harms and benefits is fundamental to the consideration of the introduction of new screening programmes. Newborn screening for genetic susceptibility is currently only available in research settings because of the lack of detailed knowledge concerning harms and benefits; the lack of preventative measures; and the relative expense and complexity of testing.
The research carried out here aims to provide more information on which to base decisions about future uses for these tests. If the pathogenesis of T1D is eventually better understood, and a preventative measure developed, even if only partially effective, then the benefits of screening may well outweigh the risks. If this eventuates, screening for genetic susceptibility to T1D should be reassessed using the usual processes and screening criteria applied when considering the introduction of a new test on standard newborn screening panels.