Project deliverable Open Access
Alexandra Soulier; Emilia Niemiec; Heidi Carmen Howard,
This report is prepared within the context of a European project called SIENNA, which was selected to fulfil the grant call SWAFS-18-2016 . The aims are to identify and present ELSI in human genetics and genomics, both present and emerging issues with a relatively short time horizon. First, we report a presentation of the SIENNA approach to ethical analysis, situated in the landscape of other existing frameworks developed for studying ELSI of genomics. We discuss the merits and challenges of different types of investigations pursued in SIENNA: foresight analysis; overview of ELSI of genomics in 11 countries; public survey in 11 countries; and focus groups in 5 countries. Secondly, we provide an extensive ethical analysis of human genomics . In particular, we focus on the ethical issues pertaining to two areas of human genomics: 1) the study of the genome as currently performed through high throughput sequencing (e.g. with tools such as next generation sequencers); and 2) gene editing (or genome editing: for example, as performed with tools such as CRISPR-Cas9 and other gene editing technologies). The aim of the report is not to make recommendations or present solutions, but only to identify and present ELSI pertaining to genomic technologies within their context of application. The report is based on a description of such technologies in previous deliverable D.2.1 and intends to provide a basis for our next report D.2.7, in which we aim to discuss an ethical framework for human genomics.
While the sheer amount of work outlined in, and conducted for, the formal SIENNA approach is laudable, we question whether it is a requirement to use it to obtain the results herein (i.e. could any other ELSI approach have resulted in the same results); we also question whether it is well adapted for the analysis of the ELSI of human genomics in particular. Moreover, we present some difficulties with attempting to include empirical work into normative analyses; beyond the theoretical reasons, we have also experienced logistical issues relating to the specific types of expertise needed to carry out this work and the challenges raised by trying to obtain such expertise via sub-contracting with a for-profit social and policy research company outside of the consortium. Finally, we remain sceptical of too much unwarranted emphasis on technologies as oppose to their uses, since in genomics, the technologies are constantly changing (from PCR machines to next-generation sequencers etc.) and it is how these technologies affect practice (e.g. clinical testing, research, and other areas) that tends to be the heart of the ethical tension.