Human genomics--the study of the entirety of a person's or population's genes--is increasingly being integrated into research and rapidly incorporated into clinical care, including into health records. (1,2) If most genomic data obtained in Canada could be accessed and analyzed collectively, the level of understanding of the role of genomics in determining health and predisposition to disease among Canadians would increase substantially. A pan-Canadian Human Genome Library (CHGL), a central node for the federated sharing of locally held genomic and associated health and medical information, is to be launched in 2023. The CHGL will empower the application of machine learning to large-scale genomic data, such that genetic factors that contribute to health and disease can be more accurately determined for people living in Canada.
The lack of data sharing among research groups is a widespread issue in research; (3,4) concern about this resulted in the development of the findable, accessible, interoperable and reusable (FAIR) data principles, (5) which define beneficial data stewardship practices. The establishment of the CHGL will enable these principles to be applied to genomics research in Canada, and simultaneously accelerate the development of critical tools to maximize the analysis of human genomes. Additionally, the CHGL will provide a single contact point to facilitate Canada's participation in large-scale international research projects.
A harmonized set of tools and procedures is required to maximize the utility of the CHGL and enable genomic data sharing in Canada locally and nationally, including that of additional types of molecular genetic information that may be detectable in the future, such as epigenetic profiles, mitochondrial DNA profiles or transcriptional profiles. Developing standard approaches to data collection (where appropriate) can reduce bureaucratic burdens by making the minimum requirements explicit, and can facilitate development of common material for consultation, education and training. One important tool is a standardized core set of consent elements for human genomics research in Canada.
The purpose of this guidance for policy is to present a core set of elements for participant consent documents to be used in local human genome-based research projects across Canada and to support the development of the national CHGL. These core elements can be also used as a research ethics tool when evaluating human genome-based research projects.
This guidance is intended for researchers who engage in, and the research ethics boards that evaluate, human genomics research in Canada. Although the primary intent of this guidance is that the proposed core set of elements be used for consenting participants into the CHGL, it may also be used for other research projects, to facilitate sharing of genomic data.
Although this guidance includes the core elements that should be considered when evaluating human genomics research, additional considerations beyond those captured in the proposed set may be required based on local policy or law. The standard produced here is not intended to be mandatory or static. Individual research ethics boards are expected to make changes and adaptations, as necessary. Additionally, researchers are expected to enrich the consent document by including components...