Abstract
Genomic science and associated technologies are facilitating an unprecedented rate of discovery of novel insights into the relationship between human genetic variation and health. The willingness of large numbers of individuals from different ethnic and cultural backgrounds to donate biological samples is one of the major factors behind the success of the ongoing genomic revolution. Although current informed consent documents and processes demonstrate a commitment to ensuring that study participants are well informed of the risks and benefits of participating in genomic studies, there continues to be a need to develop effective new approaches for adequately informing participants of the changing complexities of the scientific and ethical issues that arise in the conduct of genomics research. Examples of these complexities in genomic research include more widespread use of whole-genome sequencing technologies, broad sharing of individual-level data, evolving information technology, the growing demand for the return of genetic results to participants, and changing attitudes about privacy and the expansion of genomics studies to global populations representing diverse cultural, linguistic and socio-economic backgrounds. We highlight and briefly discuss the importance of ten core scientific, cultural and social factors that are particularly relevant to tailoring informed consent in genomic research, and we draw attention to the need for the informed consent document and process to be responsive to the evolving nature of genomic research.
Highlights
Advances in genomic technology and computational approaches have significantly changed our understanding of the non-random distribution of human genetic variants and its impact on disease susceptibility and variable drug response across human populations
Points to consider in tailoring informed consent to genetic research National and international policies and guidelines address a broad range of issues regarding ethical conduct in genetic and genomic studies [1,2,3,4,5,6]. ese policies and recommendations, and legislation such as the US Genetic Nondiscrimination Information Act (GINA) of 2008 [7], focus attention on topics ranging from the collection and storage of samples [8], data sharing for research purposes [9,10,11], protection of individual privacy [12,13,14], and the process and documentation of informed consent [15,16,17,18]
Study design Protocols for genomic research differ considerably depending on the study aims, sample populations and the procedures, risks and benefits associated with the research
Summary
Advances in genomic technology and computational approaches have significantly changed our understanding of the non-random distribution of human genetic variants and its impact on disease susceptibility and variable drug response across human populations. Tailored approaches to the informed consent process need to address both the scientific and regulatory constraints of designing and implementing genomic research, and the experiences, knowledge and concerns of individuals and diverse communities invited to join genetic research projects. Points to consider in tailoring informed consent to genetic research National and international policies and guidelines address a broad range of issues regarding ethical conduct in genetic and genomic studies [1,2,3,4,5,6]. Our objective here is to highlight and briefly describe the importance of ten core scientific, cultural and social factors that are relevant to designing ethically responsible approaches to informed consent in genomic research involving ethnically, socio-economically and linguistically diverse study populations globally (Table 1). 1 Study design (for example, disease versus non-disease studies; selected genes versus whole genome)
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