Consenting patients to genome sequencing

Obtaining informed consent for a medical intervention or testing is considered as one of the cornerstone principles in responsible medical practice, including in genetic and genomic clinical testing. The challenges of obtaining truly informed consent in this field have kept stakeholders particularly busy (if not weary) in the face of multidimensional (communication) obstacles which include: the uncertain nature of (some) genetic information, the potential problems with understanding the nature of genetic information, the handling of data and results (for secondary uses), the return of results, as well as gaps in preparation of physicians for offering testing and lack of resources to fulfill all theoretical ideals of informed consent. Indeed, there remain gaps, sometimes even divergent pathways between the idealized or theoretic informed consent and what happens in practice. While this is not specific to only genetics and genomics as the latter is used increasingly in the clinic, the need to address these gaps becomes ever more pressing. The goal of this chapter is to provide an overview of the current salient issues related to obtaining informed consent in clinical genomics including the challenges, as well as perspectives from the normative (or more idealized) as well as from the more practical contexts.