Background Massively parallel sequencing techniques, such as whole exome sequencing (WES) and whole genome sequencing (WGS), may reveal unsolicited findings (UFs) unrelated to the diagnostic aim. Such techniques are frequently used for diagnostic purposes in pediatric cases of developmental delay (DD). Yet policy guidelines for informed consent and return of UFs are not well equipped to address specific moral challenges that may arise in these children’s situations. Discussion In previous empirical studies conducted by our research group, we found that it (...) is sometimes uncertain how children with a DD will develop and whether they could come to possess capacities for autonomous decision-making in the future. Parents sometimes felt this brought them into a Catch-22 like situation when confronted with choices about UFs before undergoing WES in trio-analysis (both the parents’ and child’s DNA are sequenced). An important reason for choosing to consent to WES was to gain more insight into how their child might develop. However, to make responsible choices about receiving or declining knowledge of UFs, some idea of their child’s future development of autonomous capacities is needed. This undesirable Catch-22 situation was created by the specific policy configuration in which parents were required to make choices about UFs before being sequencing (trio-analysis). We argue that this finding is relevant for reconfiguring current policies for return of UFs for WES/WGS and propose guidelines that encompass two features. First, the informed consent process ought to be staged. Second, differing guidelines are required for withholding/disclosing a UF in cases of DD appropriate to the level of confidence there is about the child’s future developmental of autonomous capacities. Conclusion When combined with a dynamic consent procedure, these two features of our guidelines could help overcome significant moral challenges that present themselves in the situations of children undergoing genomic sequencing for clarifying a DD. (shrink)

In this paper, we explore how the prospect of artificial placenta technology (nearing clinical trials in human subjects) should encourage further consideration of the loss experienced by individuals when their pregnancy ends unexpectedly. Discussions of pregnancy loss are intertwined with procreative loss, whereby the gestated entity has died when the pregnancy ends. However, we demonstrate how pregnancy loss can and does exist separate to procreative loss in circumstances where the gestated entity survives the premature ending of the pregnancy. In outlining (...) the value that can be attached to pregnancy beyond fetal-centric narratives, we illustrate how pregnancy loss, separate to procreative loss, can be experienced. This loss has already been recognised among parents who have experienced an unexpected early ending of their pregnancy, resulting in their child being cared for in neonatal intensive care unit. Artificial placentas, however, may exacerbate these feelings and make pregnancy loss (without procreative loss) more visible. We argue that pregnancy is an embodied state in which gestation is facilitated by the body but gestation itself should be recognised as a process—and one that could be separable from pregnancy. In demarcating the two, we explore the different ways in which pregnancy loss can be understood. Our objective in this paper goes beyond contributing to our philosophical understanding of pregnancy towards practical-orientated conclusions regarding the care pathways surrounding the artificial placenta. We make recommendations including the need for counselling and careful consideration of the language used when an artificial placenta is used. (shrink)

As a psychologist and an ethicist, we have explored empirically newborn screening consent and communication processes. In this paper we consider the impact on families if newborn screening uses whole genome sequencing. We frame this within the World Health Organization’s definition of health and contend that proposals to use whole genome sequencing in newborn screening take into account the ethical, practical and psychological impact of such screening. We argue that the important psychological processes occurring in the neonatal phase necessitate a (...) clear justification that providing risk information at this stage provides a health benefit. We illustrate how research on current newborn screening can inform whole genome sequencing debates, whilst highlighting important gaps. Obtaining explicit, voluntary, and sufficiently informed consent for newborn screening is challenging, however we stress that such consent is ethically and legally appropriate and psychologically and practically important. We conclude by outling how this might be done. (shrink)