The resonance of the promises of next generation sequencing in clinical genetic practice and everyday life

Janneke M.L. Kuiper (KU Leuven, Belgium)

Panel: Imagined and abandoned futures

Abstract: The discourse around genomics is often filled with a strong ‘genetic promise’ and (functional) optimism on its current and future capabilities (Kerr et al. 2019). For (parents of) patients with rare diseases, the move towards next generation sequencing (NGS), which allows many genes or even the whole exome or genome to be sequenced at once, has heightened the chances of finding a genetic diagnostic answer (Mattick et al., 2018). However, (parents of) patients with rare diseases are frequently on extensive and exhausting diagnostic odysseys and the diagnoses identified through NGS, so far, often bring little to inform management, treatment or prognosis (Kuiper et al. 2020). This paper aims to explore how the macro discourse, as displayed and shaped in media and science, around NGS and its promises impact the potentialities and hopes (Taussig et al., 2013) present in clinical practice and in the lives of the involved (parents of) patients. Drawing on extensive fieldwork at two large European human genetics clinics, it will examine how the potentialities and hopes around NGS resonate in the experiences of patients and healthcare professionals (HCPs) that deal with these technologies. In this paper, we will analyse how HCPs speak about NGS and its potential reflexively, during interviews, and in action, during genetic consultations, when faced with the expectations of their patients. Complementary, we will examine how patients relate to the macro discourse, and that of the involved HCP, both in their genetic consultations and when asked about their experiences with genetic testing.