New guidelines for genomic consent benefit patients and researchers

How can Canada maximize the benefits of human genomic sequencing to deepen knowledge of disease? For researchers and decision-makers in this expanding field, new guidance published in CMAJ (Canadian Medical Association Journal) establishes the essential components for obtaining patient consent.

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.”

Dr Christopher McMaster, Guideline Author and Director, Institute of Genetics, Canadian Institutes of Health Research

Dr McMaster added, “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) will debut in 2023 as a focal point for exchanging regional genomic data along with related health and medical data. The genetic factors that influence health and disease in Canadians can be identified using cutting-edge artificial intelligence and machine learning techniques.

“Consent is an essential, required tool to enable personalized medicine for Canadians,” stated Dr McMaster.

To facilitate proper research ethics board (REB) approvals and the subsequent sharing of genomic and health data, a standardized set of core consent elements for human genomics research in Canada is required.

This will help to ensure the success of the library. The policy covers issues like research data, international sharing, commercial use, future research use, storage, controlled access, participant reidentification and recontact, and consent of minor participants.

Dr McMaster stated, “Genomic consent core elements will help with transparency for participants in research This guidance will allow researchers to collect human genome data in a consistent manner that explains how participants’ data will be used in the present and future.”

Additionally, it will simplify REB submissions and approvals, a crucial step in the research process.

This guidance will make it easier for clinicians and researchers to determine the essential core elements to put in their REB submissions. For REBs, it will be clearer what minimal elements to look for when reviewing submissions with genomic components. In the end, we hope that this will accelerate and make the whole process smoother for the benefit of patients and people living in Canada.”

Dr Etienne Richer, Guideline Co-Author and Associate Scientific Director, Institute of Genetics, Canadian Institutes of Health Research

Dr Mackenzie Graham, Wellcome Centre for Ethics and Humanities, University of Oxford, Oxford, United Kingdom, stated “Although securing informed consent remains an important facet of ethical research, the complexity and uncertainty inherent in current data-driven research means that much of how people’s data are used is outside of their direct control. Participants ought to be able to make an informed judgment about whether an institution is trustworthy before they trust it with their health data.”