Bioethics of informed consent in genetic/genomic studies : whither the empirical evidence?

Abstract

As genetic and genomic studies grow in scale, involving international collaborations between institutions to obtain population-based genetic leads underlying various human diseases, various ethical, legal and social issues have been raised on recruiting human participants and acquiring their informed consent before their participation in genetic studies. This project seeks to perform a systematic review of extant empirical studies which examined the bioethical issues regarding informed consent in genetic and genomic human studies involving large genetic databases, based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) recommendations. Thirty empirical studies involving 34066 human subjects and 326 consent documents were included in this systematic review. Major issues of concern relate to underlying bioethical principles, procured tissues, people involved, process of informed consent and procedures of study. Extant studies cover participants across various medical domains, healthy controls within communities and stakeholders. Frequently raised issues pertain to confidentiality of participants, documentation of informed consent forms, public attitudes, future use of participant samples or data and educating participants regarding research. This project hopes to raise the awareness and careful management of these ethical issues within the genetic/genomic research community to safeguard the rights, safety and wellbeing of our research participants.