Exploring broad consent in the context of the 100,000 Genomes Project: a mixed methods study.

摘要: The 100,000 Genomes Project (100kGP)—a hybrid clinical-research initiative—was set up to analyse whole-genome sequences (WGS) from patients living with a rare disease or cancer. project positioned participant consent as being of central importance, but in the context genomic testing raises challenging issues. In this mixed method study, we surveyed 1337 100kGP participants regarding their experiences taking part and conducted in-depth interviews 24 survey respondents explore these findings further. Survey responses were analysed using descriptive statistics interview data thematically. approach resulted proportion our study’s not understanding complexities what types results they might receive; for example, 20% who from the cancer arm did recall decisions had made additional findings. It is surprising that such this, diverse aims groups, would throw at least some challenges. However, reported satisfied experience date. Our study highlights more complex endeavours, 100kGP, it important assess (and document) an agreement take part, complicated about when communicate may need revisiting over time response changing contexts. We discuss implications reference newly formed NHS Genomic Medicine Service.