Dealing with ambivalence in the practice of advanced genetic healthcare: towards an ethical choreography

Abstract

The implementation of next-generation sequencing (NGS) in diagnostic practice has stimulated ongoing debates on how to construct and perform "good" genomic care. Our multi-sited qualitative fieldwork at two large European centres for human genetics (CHGs) revealed tangible ambivalence in beliefs, norms, and actions in the enactment of NGS practices across sites stemming from differing expectations, interests, demands, and tensions. First, ambivalence was present around the boundaries of clinical diagnostic genetic care. The overlap between research and clinical work and diagnostics and screening led to ambivalence around "best" practices and norms concerning whom to offer NGS testing and how far to take testing. Secondly, the clinical value of NGS results, especially VUS and unsolicited findings, was ambivalently valued, resulting in an inconsistent approach towards these types of findings. Thirdly, ambivalence was recognized in applying guidelines in the reality of clinical practice. The ambivalence we encountered was often not made explicit or acknowledged, causing a failure to benefit from its possibility to encourage reflexivity and change. We propose to facilitate a more explicit ethical choreography [27], where ethics and science are developed iteratively whilst welcoming different perspectives and disciplines. Pulling experiences and practices of ambivalence into the light can help to understand the points of tension in the values and internal logic in care practices within the CHGs and facilitate a more informed, transparent, and consciously chosen direction for genetic care.