How the Sanger Institute and GA4GH are promoting equitable access to data and informed consent in genomics research

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Last month, researchers and contributors from across the world published a paper in Nature with a call to action for the global genomics community to further commit to responsible and interoperable data sharing in order to contribute to the advancement of human health. Since the inception of the Sanger Institute as part of the Human Genome Project, the institute has been sharing its data and grappling with the challenges of responsible sharing. It is for this reason that Sanger currently hosts part of the secretariat of the Global Alliance for Genomics and Health (GA4GH). GA4GH has set about creating policy and technical standards to enable global sharing of data in safe and responsible ways that improve health.

The paper in Nature was written by researchers and clinicians around the world, including members of GA4GH. GA4GH contributes to the development of standards in accordance with the values of open science and international collaboration in the field of research, and is guided by a human rights framework. It exists to enable responsible genomic data sharing for research and healthcare through the development of ethical and technical standards, and is hosted by the Sanger Institute in line with the Institute’s mission of delivering societally beneficial science. 

GA4GH aims to solve a set of crucial challenges faced by researchers and healthcare providers in collating and creating data sets that can be integrated with other data sets when and where relevant. We do this by framing policy and building standards to meet the real-world needs of the global genomics and health community as technology and data sets develop.

Ideally, all data generated by research and healthcare would be created following the same standards and protocols so that others can also use that data for their own scientific work. However, the reality is that researchers and clinicians use a mishmash of data types, file formats, and technical and security standards, making data sharing at a global scale very difficult.

It sounds simple to fix, but in practice, it isn’t. There are many different formats in which data is created and stored, and a myriad of computer programs that are used to interpret them. Those data formats and software programs don’t always “talk” to each other, meaning that there are datasets out there that some people can use and others can’t. This leads to duplication of efforts in the best of cases and loss of valuable and insightful research that could potentially save lives in the worst of cases.

Another challenge evolves around consent and how to properly inform patients who are donating their data for scientific research. What is done with that data? How do we explain to patients and communities what data is being gathered, how data is kept secure, and what concerns they might have? In short — how do we make sure people are making informed decisions when granting permission for their data to be used in research?

Within the UK, there are moves towards streamlining and connecting health data to enable researchers to better analyse disease pathways and work towards a more preventative approach to health. However, data is held by a complex myriad of different organisations based in different jurisdictions, with differing access requirements.

To address this need, GA4GH has come up with a solution; to create data user passports and visas similarly to how individual countries issue passports for travellers and all countries recognise each other’s passports and visas. In the genomics and health data space, countries are increasingly looking to unify access requirements and recognise a mutually agreed upon user accreditation (a “passport”) and access permissions to specific datasets (“visas”).

Enabling unified genomic data sharing for research allows individual countries or regions to apply their own principles of privacy and acknowledge the preferences of the data donors, while recognising the credentials of researchers and healthcare providers from outside that country to provide them with controlled and monitored access.

The Nature paper highlights one of the most challenging obstacles to data sharing: policy. This is because countries take different approaches to how they store and maintain data securely, often based on regionally specific cultural and social norms, making it difficult for big scientific collaborations to work across different countries. As the paper highlights, the challenges can vary; ranging from protection of potential intellectual property to concerns regarding national security.

These challenges are very much linked to the issue of public trust. GA4GH sees this as a critical issue, and we are demonstrating how public trust can be interwoven into policy by sharing the insights of researchers and the public around the world. By delving into this, we get a deeper understanding of community concerns- how they may differ by jurisdiction and how these values can be respected depending on the law of each country or state. GA4GH then uses this understanding to seek common ground that can support interoperability whilst respecting individual jurisdictions values. 

Empowering individuals not only requires listening to them, but also establishing processes through which they are able to understand how their data is going to be used in research. At GA4GH, we have established guidance on how to obtain consent from individuals and communities in different contexts, by developing a Consent Toolkit that allows researchers to adapt their consent processes to different contexts for example: consent within paediatric clinical research.

This not only encourages organisations to recognise and respect consent, but it has also allowed GA4GH to build on these processes to develop tools such as the Data Use Ontology (DUO), which looks at what patients and participants have consented to their data being used for and matches that permission with other datasets that have the same permissions. This allows researchers to identify multiple data sets they are allowed to use for their research and allows them to safely combine data in line with the permissions provided. By creating standardised frameworks for consent in genomic research, GA4GH supports researchers and clinicians to ensure that individuals’ rights are protected while maximising research value.

Together, these efforts reflect GA4GH and Sanger’s ongoing commitment to health equity and the ethical sharing of genomic data. While the rise of genomic research and innovation is shaping global health advancement, this also comes with challenges, mainly in data being interoperable so that different datasets can ‘talk’ to each other.

At the Sanger Institute and at GA4GH, we want to accelerate this process to allow for impactful genomic science that is collaborative and international. We also want to demonstrate that innovation and research can be fully realised through responsible genomic data sharing. This Nature paper is a call to action: we need to do more to realise the benefits of data sharing for human health.