This month we spotlight the new set of principles supporting ethical human genomic data collection and sharing released by the WHO in late November. In this normative guidance, WHO addresses eight principles [detailed below], many of which touch on consent either directly or indirectly. In particular, the first principle [3.1] presents a number of consent-related recommendations which we highlight here:
3.1. To affirm and value the rights of individuals and communities to make decisions
A commitment to affirm and value the rights and interests of individuals with capacity to make informed decisions about their human genome data throughout the data life cycle. In addition, a commitment to affirm the best interests of, and support for, individuals who do not have the capacity to make decisions for themselves.
The use of human genome data has implications beyond the individual, and the relevant views of family members and communities on collection, access to, use and sharing of these data should be taken into account throughout the data life cycle.
Recommendations: [selected]
:: Informed consent should be as specific and granular as possible in relation to the potential uses (including by for-profit entities and the potential to share the data to train artificial intelligence), benefits and harms possibly resulting from the use of human genome data, the infrastructure hosting the data (including location and access modalities), and this information must be tailored to respect social and cultural contexts.
:: The most appropriate informed consent model (e.g. specific, broad, tiered or dynamic informed consent) depends upon the individual/local context.
:: Informed consent should be supported by governance frameworks and processes, and individuals should be informed of such processes…
:: Individuals, families and communities should have access to clear, transparent, accessible, understandable and ongoing communication about their human genome data collection, access, use and sharing, for those who wish to receive that information. This ongoing communication should, where possible, continue throughout the data life cycle.
:: Individuals and their representative communities should be engaged in the governance and decision-making process regarding collection, access to, use and sharing of human genome data, including the development of appropriate informed consent models and processes.
:: Children, when sufficiently mature to understand what is involved in their participation, should be given the opportunity to affirm the informed consent previously given on their behalf or to withdraw their consent from that point onwards….
Below, we provide excerpts from the WHO media release and the full citation/overview of the guidance document.
WHO releases new principles for ethical human genomic data collection and sharing
20 November 2024
The World Health Organization (WHO) has issued a set of principles for the ethical collection, access, use and sharing of human genomic data. Created with guidance from the WHO Technical Advisory Group on Genomics (TAG-G) and other international experts, these principles establish a global approach to help protect individual rights, promote equity and foster responsible collaboration in genomic research…
“The potential of genomics to revolutionize health and disease understanding can only be realized if human genomic data are collected, accessed and shared responsibly,” says Dr John Reeder, Director of WHO’s Research for Health Department. “This document outlines globally applicable principles designed to guide ethical, legal and equitable use of human genome data, fostering public trust and protecting the rights of individuals and communities. It serves as a call to action, urging all stakeholders to adhere to these principles and ensure the benefits of genomic advancements are accessible to everyone.”
The principles emphasize several core themes:
:: Informed consent and privacy are foundational, with clear guidelines to ensure that individuals understand and agree to how their genomic data will be used. WHO underscores the importance of transparency, requiring that data collection processes are openly communicated and safeguarded against misuse.
:: Another core focus is equity. The principles call for targeted efforts to address disparities in genomic research, especially in low- and middle-income countries (LMICs), and for ensuring that genomic research benefits populations in all their diversity. By prioritizing the inclusion of underrepresented groups, the guidelines aim to promote broader and fairer representation in genomic research and its applications.
:: Recognizing the importance of international collaboration through partnerships across borders and sectors, WHO encourages collaborative efforts between governments, academia and the private sector to maximize the positive impact of genomic research. Responsible data sharing, supported by robust governance structures, is essential for advancing global health while respecting privacy.
:: WHO’s principles also address capacity building in regions with limited genomic infrastructure. By encouraging investment in local expertise and resources, the organization aims to close global disparities in research capacity, making genomic data practices more inclusive and sustainable.
The release of these principles represents a significant step forward in WHO’s mission to promote ethical genomics practices. As the field continues to evolve, these guidelines offer a trusted framework to support genomic research that is equitable, transparent and respectful of individual rights.
Guidance for human genome data collection, access, use and sharing
WHO – Guidance [normative]
20 November 2024 :: 22 pages
Overview
The ethical, legal, and equitable sharing of human genomic data is critical to advancing global health research and ensuring fair access to the benefits of genomics. The WHO’s new document outlines a comprehensive set of globally applicable principles designed to guide stakeholders in the responsible collection, use, and sharing of human genome data. This document serves as a key resource to navigate complex issues surrounding data governance, with the aim of fostering transparency, promoting equity, and safeguarding individual and collective rights. These principles are intended to support the implementation of best practices across diverse settings, thereby enhancing the global capacity for genomic research and its translation into health benefits for all.
Table of Contents [excerpt]
3.0 Principles for human genome collection, access, use and sharing
3.1 To affirm and value the rights of individuals and communities to make decisions
3.2 Social justice
3.3 Solidarity
3.4. Equitable access to and benefit from human genome data
3.5 Collaboration, cooperation and partnership
3.6. Stewardship of human genome data
3.7. Transparency
3.8. Accountability
Glossary [excerpt]
Benefit-sharing refers to profit-sharing agreements, equitable access to diagnostics, therapeutics and technology transfer, as well as capacity-building and -strengthening initiatives. What constitutes a benefit (and the nature of that benefit) is both subjective and context dependent
Human genome data include but is not limited to:
– DNA sequence(s) from the nuclear and mitochondrial genomes.
– Transcriptome (complete set of RNA transcripts).
– Proteome (complete set of proteins produced by an organism, from which the corresponding
– genetic sequences can be inferred)
– Methylome and other epigenetic modifications.
Center for Informed Consent Integrity 