This month's WHO 'Guidance for human genome data collection, access, use and sharing' notes
Collecting, accessing, using and sharing genomic data from humans is fraught with ethical, legal, social and
cultural issues. Nevertheless, the potential benefits of genomics can only be realized if such data is collected,
accessed, used and shared. Consequently, the Science Council report set the promotion of ethical, legal,
equitable, and responsible sharing of human genome data as a specific goal.
This complementary document seeks to achieve that goal by outlining globally applicable principles for
collecting, accessing, using and sharing human genome data. These principles serve as a compass to guide
policy-makers, researchers, clinicians, and all those involved in human genome data, how they should
collect, access, use and share human genome data in ways that advances genomics for individual and
population health, protects individual and collective rights and interests, and fosters public trust. Equally,
they provide individuals, their families and communities from whom human genome data is accessed with an
understanding of the principles upon which their data will be collected, accessed, used and shared.
The principles described recognize the importance and value of human genome data. Its use is critically
important if we are to realize the promise of genomics for all, but this must be stewarded in such a way that
identifies and mitigates the ethical, legal, social and cultural issues that are likely to arise. These principles
offer normative guidance and serve as a call to action, urging all of those involved in the use of human
genome data to uphold and implement them.
1. INTRODUCTION
The science and practice of genomics hold great promise and potential to
improve individual and population health
for present and future generations. To
realize this potential, there is a need to enable
the collection, access, use and sharing of human
genome data within and across differing health
and research sectors. Achieving this requires
proactively addressing the ethical, legal, societal
and cultural issues. It also requires acknowledging
that there are risks associated with both the use of
and the non-use of human genome data (1). Such
risks must be balanced and mitigated to protect the
interests of individuals, families and communities,
while at the same time promoting the health and
well-being of present and future generations.
Efforts to scale up collection, access to, use and
sharing of human genome data must recognize
the related mistrust that can exist among some
individuals, families and communities. This is
an ongoing challenge, partly due to continuing
exploitative practices, as well as capacity
and power imbalances between the different
stakeholders (2-4). The diversity of datasets and
the under-representation of many populations in
existing datasets must also be addressed to help
reduce existing inequities, facilitate equitable
access to the potential benefits of genomics, and
advance global equity in genomics (5). However,
addressing diversity and representation must
be done in a way that does not perpetuate
harms and protects privacy and confidentiality,
if scientific quality and global equity in genomics
are to be achieved. Consideration must also
be given to the trans-generational impact of
genomics, as decisions that are made today on
collection, access, use and sharing could affect
future generations.
The integration of genomics into health systems
requires a data life cycle approach, with guidance
enabling collection, access to, use and sharing of
human genome data within and across health
and research sectors locally, nationally and
internationally. To support research and the
integration of genomics into health systems – and
following the WHO Science Council 2022 report
Accelerating access to genomics for global health
(6) that recommended the promotion of ethical,
legal, equitable and responsible use and sharing
of human genome data – WHO has developed this
document, which sets out principles for human
genome data collection, access, use and sharing.
2. PURPOSE AND SCOPE
This document sets out globally applicable and inter-connected principles on the
collection, access, use and sharing
of human genome data, to promote
human health and well-being, including
responsible medical advances and scientific
research. This document is rooted in human
rights law (7-8). It complements and builds upon
current laws, policies, frameworks and other
guiding documents in this space (including
9-19) and encourages their development where
none exist.
The principles for human genome data collection,
access, use and sharing are intended to:
•Promote social and cultural inclusiveness,
equity and justice.
•Promote trustworthiness within the data
lifecycle
•Foster integrity and good stewardship
•Promote communal and personal benefits
•Promote the use of common principles in
laws, policies, frameworks and guidelines,
within and across countries and contexts.
In addition, these principles aim to build and
strengthen capacity and awareness of individuals,
families and communities from whom genome
data are collected, to enable them to have more
control over their genome data.
Implementing these principles requires a
comprehensive approach throughout the entire
data life cycle. They apply to all prospective and
retrospective collections of human genome data,
and are designed to complement and inspire
legal and ethical regulations, frameworks and
guidelines at both the national and community-
specific level (e.g. research community). WHO
recognizes that the implementation of some of
these principles may differ for retrospective data
(e.g. secondary use of data).
This document applies only to human genome
data. Pathogen genome data (20) and microbiome
data do not fall within its remit.
Human genome data are typically linked with
other health information that is critically important
to its interpretation. WHO strongly encourages
making other health data available with human
genome data, subject to approval and mitigating
any associated risks that may arise. It may be
reasonable to apply these same principles to
health data collection, access, use and sharing.
Human genome data are obtained from biological
samples thus these principles equally apply to them.
Biological samples are a finite resource and have
cultural significance in many contexts. Collecting,
accessing, using, and sharing biological samples
therefore may require additional considerations
beyond those identified in this document (11).
This document sets out principles that are
intended to set normative standards in collection,
access, use and sharing of human genome data.
Each principle is followed by recommendations
that can be used to guide the application and
implementation of these principles in practice.
The application of these principles in practice
depends on giving careful attention to the health
and research context in which human genome
data are collected, accessed, used and shared.
This will include: specific considerations of the
individuals, families and communities providing
the data; the purpose of collection, access and
use; and the capacity, resources, skills and
expertise of those collecting, accessing, using
and sharing the data. Equally, national legal and
ethical frameworks, as well as social and cultural
values, impact the application of these principles.
Individual and collective values may vary,
giving rise to tensions when implementing these
principles. In such circumstances, implementing
these principles may require additional and
careful deliberation and review.
These principles are intended to be used by
those responsible for governing, overseeing
and managing human genome data, as well as
stakeholders in the data life cycle within health
and research contexts, including individuals,
families and communities from whom human
genome data originate, and the private sector.
3. PRINCIPLES FOR HUMAN
GENOME COLLECTION,
ACCESS, USE AND SHARING
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:
• Human genome data collection, access,
use and sharing should be aligned with the
needs, preferences and values of individuals,
families and communities throughout the
data life cycle.
Informed consent is a critical component for
the ethical use of human genome data and
includes the right of and clear mechanism
for an individual to withdraw, but there can
be justified limitations to this right (e.g. when
the results of the use of human genome
data have been publicly shared). Any such
limitations must be subject to approvals
being in place and communicated clearly in
advance.
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.
In circumstances where it is not possible
to identify a specific purpose for human
genome data use, informed consent to broad
categories of human genome data collection,
access, use and sharing may be permissible,
provided such collection, access, use and
sharing is subject to appropriate safeguards.
These safeguards include, at a minimum,
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governance frameworks and processes
on the re-use of the data that should be
informed by community engagement and
oversight by a body such as a data access
committee. Such a committee should ideally
be independent and have responsibility for
reviewing access requests and monitoring
compliance with conditions set out in the
access approval. The broader the informed
consent, the more safeguards are required.
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.
The right of the child to an open future (i.e.
the right to know and the right not to know)
should be given due consideration, when
collecting, accessing, using and sharing
human genome data from children.
Measures regarding the protection of
marginalized groups and populations,
including individuals who are not able to
consent or in need of additional support,
protection or assistance, should be carefully
thought out and implemented.
3.2. Social justice
A commitment to uphold individual and collective values and enable collection, access to, use and sharing
of human genome data in ways that: (i) promote the highest attainable standard of health, individual
and collective well-being; (ii) address the needs of underserved and marginalized individuals, families
and communities, and those experiencing greater health burdens; (iii) reduce socioeconomic inequalities
and health inequities; (iv) promote global equity; and (v) avoid individual and group discrimination
and stigmatization.
A commitment to enable access to adequate resources, skills, training, capacity building and capacity-
strengthening for researchers, all health care professionals, genomic data administrators, policy-makers,
individuals, families, communities and other stakeholders involved in human genome data collection, access,
use and sharing. Fulfilment of this commitment requires greater effort in some countries and contexts than
others due to existing inequities.
Recommendations:
• The purposes to be served by human
genome data collection, access, use and
sharing should give due consideration to
local health needs and burdens, taking
account of the interconnectedness between
the local, national and international health
ecosystems, which are critical to ensuring the
global impact of genomics and improving
global equity.
• Return of results to individuals should be
considered in cases where: results are clinically
relevant and could be validated; return is
feasible within the local health setting; and
the return of results is legally and ethically permissible.
• An approved policy should be
developed for the return of individual results
and should be in line with the individuals’
informed consent and respect the privacy and
confidentiality of the individual.
• Policies and procedures to protect
individuals, families and communities from
stigmatization and discrimination that can
result from the association between genome
data, community membership and health
status should be developed in advance and
regularly updated. They should be developed
in collaboration with communities through
meaningful community engagement, particularly those who may be at higher risk of
stigmatization and discrimination.
3.3. Solidarity
A commitment to stand in solidarity with others by ensuring equitable access to human genome data and
fair distribution of its benefits and burdens. This includes data collection, access, use and sharing, within
and across communities, and acknowledges the need to address differences in capacity and existing
inequities between different individuals, families or communities, countries and regions.
Recommendations:
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The rights and interests of individuals, families
and communities providing human genome
data for collection, access, use and sharing
should continue to be protected, particularly as
efforts to scale up diversity and representation
are increased.
Decisions on human genome data collection,
access, use and sharing should include an
assessment of both the potential risks and
potential benefits, and commitments to
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facilitating access to any resulting benefits for
individuals, families and communities.
Commercial interests should not unfairly limit
collection, access to, use and sharing of human
genome data.
Governance processes should be introduced
to clearly identify responsibilities and duties for
all those involved in the data life cycle, and to
specify sanctions in case of non-compliance.
These sanctions should be sufficiently serious
to act as deterrents to help avoid harm to
individuals, families and communities.
3.4. Equitable access to and benefit from human genome data
A commitment to achieving equitable collection access to, use and sharing of human genome data and
its resulting benefits. This means actively addressing power imbalances and inequities among different
stakeholders that may hinder these efforts.
A commitment to increase diversity and representation in datasets and decision-makers overseeing
collection, access to, use and sharing of human genome data, without contributing to further harm for
current and future generations.
A commitment to ensuring that individuals, families and communities whose human genome data are
collected, accessed, used and shared fairly benefit from its use.
Recommendations:
•
Increasing representation of datasets across
diverse populations is critical, but inclusion
alone is insufficient to achieving equity. It must
be paired with the meaningful participation of
individuals, families and communities affected
by decisions regarding the collection, access,
use and sharing on their human genome data.
Their involvement in decision-making and the
development of governance frameworks is
necessary, as differing cultural perspectives
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on human genome data can influence these
processes.
The equitable sharing of potential risks and
benefits across and within communities,
including affordable access to resulting
benefits, should be considered in advance of
collection, access, use and sharing of human
genome data, and where possible and needed,
informed by community engagement.
Capacity building and strengthening should
be considered as part of any collection, access
to, use and sharing of human genome data.
3.5. Collaboration, cooperation and partnership
A commitment to promote mutually beneficial local, national and international collaboration, cooperation
and partnership, including public–private partnership, between those involved in all aspects of human
genome data collection, access, use, and sharing, acknowledging that to achieve this will require a
rebalancing of power and representation between individuals, families, communities, countries, regions,
and other stakeholders.
Recommendations:
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Decisions on governance processes for
human genome collection, access, use and
sharing should be made collaboratively
between all relevant stakeholders.
Decisions on collection, access to, use and
sharing of human genome data should include
discussions on potential risks and benefits to
individuals, families and communities from
which the human genome data is collected.
Policies should clarify that human genome
data should be collected, accessed, used and
shared with consideration for protecting and
confidentiality to improve human health and
wellbeing, with ethical safeguards.
Ensure the interoperability of platforms to
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facilitate collection, access, use and sharing
of human genome data between institutions
both nationally and internationally, and in the
public and private sectors.
To promote collaborative decision-making
and effective partnerships, efforts should focus
on building and strengthening capacity and
improving health literacy on genomics and
human genome data among all stakeholders.
This includes both those contributing their data
and those involved in making decisions about
its collection, access, use, and sharing. It may
incorporate targeted educational initiatives to
increase public awareness and understanding
of human genome data and the importance of
and implications of its collection, access, use
and sharing.
3.6. Stewardship of human genome data
A commitment to encourage, enable and sustain ethical, legal, socially and culturally appropriate, and
responsible, human genome data collection, access, use and sharing by committing to: (i) develop
processes to enable equitable collection, access to, use and sharing of human genome data; (ii) follow
the current ethical practices on human genome data; (iii) identify and minimize potential risks in human
genome data collection, access, use and sharing; and (iv) respect applicable laws and guidance, including
laws on privacy and data protection.
Recommendations:
•
Suitable models should be identified that
provide equitable access to human genome
data. They should be implemented in ways
that best protect individuals, families and
communities across different contexts. Efforts
should be made to mitigate the environmental
impact of data processing, storage and
use. The collection, access, use and sharing
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of human genome data should align with
other current relevant guidance, such as the
Findable, Accessible, Interoperable, Reusable
(FAIR) principles (21), the Collective Benefit,
Authority to Control, Responsibility, Ethics
(CARE) principles (22) and the TRUST code (23).
Sufficient attribution should be given for the
source(s) of human genome data.
Timely access to human genome data should
be granted, but justified, reasonable and
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proportionate time delays can be permitted.
To ensure that data collection and subsequent
access, use, and sharing is in line with cultural
and social priorities and considerations,
community and stakeholder engagement
should be ongoing throughout the data
life cycle.
Resources required to sustain the use of human
genome data (e.g. financing, infrastructure,
and personnel) should be considered at the
outset of human genome data collection and
also reviewed through the data life cycle.
Specific guidelines, policies and frameworks
should be put in place to ensure that current
ethical, legal, privacy, data protection, and
security standards and practices are followed,
recognising that they may be informed by
standards and practices on health data
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generally. This may require the establishment
of data governance structures and oversight
mechanisms (e.g. data access committees).
Such standards and practices may need
to evolve over time to reflect advances
in technology, the state of the art, and
societal norms.
Robust data security measures should be
implemented to safeguard genetic information
from unauthorized access, breaches or misuse.
This might include encryption, access controls,
regular security audits, and compliance with
data protection regulations.
Provide training and resources to all those
involved in the data life cycle on ethical
data handling, privacy protection, and
responsible data stewardship practices for
human genome data.
3.7. Transparency
A commitment to provide openly available and easily accessible information on policies and processes
that describe human genome data collection, access, use and sharing, including how the data are to be
protected. A commitment to transparency also includes making research findings readily accessible to
individuals, families, communities and other stakeholders who shared genomic data.
Recommendations:
• Publicly available policies should describe the
criteria for deciding on collection, access to,
use and sharing of human genome data, the
processes for decision-making, how human
genome data is protected, and how such
policies were developed.
• These policies should
describe how the right to privacy is protected
and who is responsible for ensuring respect to
this right throughout the data life cycle.
•
Systems and mechanisms should be put
in place to enable communication with
individuals, families and communities about
the use of their human genome data, and
related research results. This should include
plain language summaries of key insights and
education materials and should be openly
available to all.
Individuals, families and communities should
be informed about how they can exercise their
rights related to their human genome data.
3.8. Accountability
A commitment to establishing processes that enable and promote responsible collection, access, use
and sharing of human genome data and that prevents human genome data misuse, accompanied by
mechanisms that hold individuals, institutions and other stakeholders accountable for failure to adhere to
such processes.
Actions:
• Establish mechanisms that assign roles and
responsibilities to those involved throughout
the collection, use and sharing of human
genome data, including for cases related
to negligence or data misuse. Responsible
stakeholders should be identified prior to
human genome data collection, access, use
and sharing.
• Mechanisms, including regulations and
policies, should be put in place to guard
against the misuse of human genome data.
This includes limiting collection, access to,
use and sharing of human genome data with
stakeholders who cannot adequately protect
the data. Such policies should, at a minimum,
support the right to privacy, prohibit collection,
access to, use and sharing of human genome data that stigmatize or discriminate against
the individual, their family or their community.
They should also prohibit any attempt to
re-identify the individual, and prohibit the
unauthorized collection, access to, use and
sharing of such data.
• Mechanisms should be put in place to ensure
that stakeholders use human genome data in
a secured and trustworthy manner, and that
those responsible for human genome data
misuses are held to account.
Human genome data collection, access, use
and sharing should be subject to checks on
the purpose of data use. Data audit trails
and systems for tracking and auditing data
collection, access, use and sharing should
also be implemented to monitor compliance
with data sharing agreements, regulatory
requirements, and ethical guidelines.
