The PHG Foundation warmly welcomes the recently published WHO principles for human genome data collection, access, use and sharing. It is a timely and important contribution to global governance, given increasing interest around the world in improving the scalability and interoperability of genomic data research infrastructures and health systems, and in a changing and uncertain geopolitical climate.

About the guidance

The newly published guidance addresses a recommendation made by the WHO Science Council in 2022 to promote the ethical, legal, equitable, and responsible sharing of human genome data. It builds on existing human rights law, other relevant law, policy, frameworks and guiding documents in this space, and applies to:

 ‘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, population health, protects individual and collective rights and interests, and fosters public trust.’ 

The goals of the guidance are clear. 

Global efforts are needed to establish consistent responsible practice and explicit expectations for individuals, families and communities from whom human genome data is generated, on how their data will be collected, accessed, used and shared.

With this guidance and its earlier report, the WHO draws attention to the importance and value of human genome data and promotes its better stewardship in a way that mitigates the ethical, legal, social and cultural issues that can arise.

It therefore amounts to both guidance and a call to action – ‘urging all those involved in the use of human genome data to uphold and implement them.’

There are eight principles within the guidance:

• To affirm and value the rights of individuals and communities to make decisions
• Social justice
• Solidarity
• Equitable access to and benefit from human genome data
• Collaboration, cooperation and partnership
• Stewardship of human genome data
• Transparency
• Accountability

Summary

The eight principles cover many of the pertinent challenges associated with human genomic data access, use and sharing, and give much needed attention to Lower and Middle-Income Countries (LMICs).

They address the underlying purposes: to promote and foster inclusiveness, trustworthiness, good stewardship and benefit sharing. The principles also consider many of the key challenges for human genome data:

• the need for clearer processes on obtaining informed consent
• the importance of decision-making capacity and providing appropriate support 
• the need for accessible and clearer information on how data rights can be exercised
• the importance of balancing the rights and interests of individuals with familial and/or community interests 

The principles also give much needed attention to complex topics such as: 

• when is it appropriate to return results
• how should children’s and future generation’s rights be considered
• the global inequities that exist in sharing both the benefits and burdens that arise in the collection and use of such data; balancing legitimate commercial interests
• how discrimination and stigmatisation can arise from human genome data activities

The principles have managed to encompass these wide-ranging and complex topics within the guidance and still develop what are globally applicable principles.

Parallel challenges

However, we recognise that the principles cannot address all of the challenges and considerations in the field. The stewardship of associated health data, awareness of how emerging technologies may challenge the implementation of these principles both now and for future generations need to be borne in mind.

Associated health data

The scope of the guidance is to promote the value and importance of human genome data. However, it is associated health data, read in conjunction with human genome data that often provides its real value. The guidance acknowledges that the principles ‘may also reasonably apply’ to the collection, access, use and sharing of health data. However associated health data cannot be an after thought. Both moral and legal duties exist to ensure that individuals, families and communities are made aware of what will be done with, and what further risks could arise from, any relevant and associated health data they provide.

This is not a small challenge. Debates have been around for some time about the increasing scope of what amounts to “health data”. Individuals, families and communities may be surprised by what types of data are being read in conjunction with their human genome data to provide new insights.This may change their understanding of what their genomic data can reveal.

Ensuring accessible, transparent and ongoing communication on the uses of human genome and any associated health data must be equally important for responsible stewardship by those collecting, accessing, using or sharing human genomic data.

Future persons and generations

We were pleased to see the rights of the child and the right to an open future mentioned in several parts of the guidance, given the impact on genomic data use for children and future generations. 

Given just how much of our DNA is shared, what we do with sensitive health data today will impact the rights and interests of future generations and increasing digitalisation will add to this challenge. This includes consideration of the hefty environmental footprint that generating and sharing genomic data will have and in ensuring responsible use practices now.

We do not yet know all the impacts that the use of genomic data in the modern world will have for these stakeholders. We are only just getting to grips with the risks of reducing humans to data points, particularly when those humans cannot, or cannot yet, speak for themselves. 

These issues also have to be considered in light of the rapid progress in emerging technologies. Such innovation can come at a cost– capacity for data linkability is increasing which aids innovation but makes being aware of and mitigating against personal, familial or community harms a constant moving target. Moreover, the speed of technological progress also means we do not know how long these principles will be fit for purpose.

Further thoughts

The principles address the need to better balance the benefits and burdens of human genomic data use between a wide variety of global stakeholders. They also highlight the unique considerations for genomic data stewardship for stakeholders who cannot, or who cannot yet, speak for themselves.

However, they will likely require regular review to ensure that they continue to uphold their laudable goals of fostering inclusiveness and trustworthiness, better stewardship and a better balance between competing interests in this field. 

To ensure they are given their full effect, data stewards will need to bear these parallel challenges in mind and make a habit of re-evaluating how digital innovation and linkability of data are challenging the legal, ethical and governance mechanisms we globally have in place to ensure inclusivity and to protect against individual and community harms, now and in the future.