Ethical aspects and recommendations for human research in the genomic age

Abstract

This article reviews the main ethical challenges posed by human genome research in the light of the international literature and provides recommendations on how to approach them based on our experience in the Ethics Committee for Research on Human Subjects of the Faculty of Medicine, University of Chile, including national legal regulations. Ethical standards in human research must be extreme, in order to adequately protect participants in studies involving genomics. Particularly relevant in this context are the protection of confidentiality and anonymity; the policy of delivery of results and the possibility of withdrawing from the study.  Sharing data resulting from genetic research optimizes resources, provides greater transparency, and replicability of the analyses and makes it possible to discover genetic alterations responsible for rare diseases and genes involved in multifactorial hereditary diseases, as well as contributing to the design of precision medicine and new therapeutic strategies.  However, it poses great challenges: protecting privacy and avoiding re-identification of volunteers, delivery of results with pre- and post-study counseling. These aspects require the elaboration of a careful informed consent process for genomic research, the main components of which are discussed in this article.