ELSI Challenges Associated with Clinical Applications of Exome Sequencing: A Systematic Literature Review

Gabrielle Bertier

McGill University Center of Genomics and Policy

In this study, we analyze gaps between technology-user-reported issues and existing policy recommendations on the clinical use of whole-exome sequencing (WES). Performing WES in the clinical context creates a number of technical as well as ethical, legal, social and policy issues (ELSI), discussed in the literature. However, no study was published to date on the ELSI experienced by researchers and doctors (technology users) when using WES in the clinic. We performed a systematic literature review, analyzed 30 articles and compared them with European, USA and Canadian policy. Overlap was only partial between users-reported issues and existing policy. We believe our results could be used by policymakers to promote an efficient and responsible use of WES for the benefit of patients.