Boundary-work in genomic medicine: Safeguarding the future of diagnostic next-generation sequencing in the clinic

Next-generation sequencing (NGS) technologies – which allow to look at large parts or even the whole genome at once - are making their way into diagnostic clinical care. With trends towards ‘mainstreaming’ genetic services into general medicine, significant ethical challenges, and a disputed clinical utility and cost-benefit ratio, genomic medicine's autonomy and dominance in defining and offering NGS care may come under increased pressure from the outside (e.g., regulators, other healthcare providers and facilities, ethicists, and patients). In this paper, we show how the field of genomic medicine engages in substantial boundary-work in reaction to these circumstances. Building on multi-sited fieldwork in two centers for human genetics in Belgium and the Netherlands, we show how acts of demarcation serve to uphold an image of expertise and authority which helps maintain the field's autonomy and dominance. Through examining the delineations put forward in interviews, practice (based on observations in multidisciplinary meetings and consultations), and grey and academic literature, we show the politics involved in moving NGS forward fairly seamlessly in a way that suits the field. First, we show how genetic healthcare professionals have redefined what makes a genetic test ‘valuable’ so that it underlines its current value. Secondly, we examine how a genetic imaginary is put forward that both emphasizes the extraordinary character of genomic medicine and the normalcy of NGS testing. By underlining the need for their expertise whilst simultaneously normalizing the ethical challenges and positioning themselves as most capable of reflecting on these, the field minimized external regulation and kept a close grip on defining ethical issues and policy. Despite their current dominance in shaping the future of genomic care, we argue that the closedness of the field hinders it from benefiting from external expertise, reflection, and monitoring to ensure enduring and broad support for this future.