Genomics is driving a revolution in drug development and, in the long run, the state of public healthcare. Advances in sequencing are leading to scientific breakthroughs in preventative care, faster diagnoses, and proactive medical interventions. Jack Dix, Head of Healthcare Strategy and Consulting at Kainos, expands.
Genetic insights are also guiding healthcare closer to precision medicine, enabling clinicians to tailor medical decisions or therapies to each patient.
However, this quantum leap in bioscience comes with the challenge of how to store and manage large volumes of sensitive patient data. Without a solution, the sector risks jeopardising critical public trust in data-sharing.
The dilemmas of data
The last 20 years have seen tremendous growth in human genomics. The first draft human genome took a decade to create, and 13 years to complete. Today, thanks to incredible technological advances, scientists can sequence a genome in under 24 hours1.
One outcome of this rapid development is data. Researchers now have access to an expanding pool of data of many different types, not only single-cell and functional genomics material, but digital medical records and other critical biomedical data. According to the Wellcome Sanger Institute, the amount of raw genomics data produced worldwide doubles every seven months and shows no signs of slowing down2. By 2025, scientists estimate they will have sequenced between 100 million and two billion genomes, generating two to 40 exabytes of storage requirements a year3.
While these large-scale datasets are a rich resource for discovery, the continued evolution of genomics will only be possible if researchers are equipped with the right tools and technology to analyse and securely share data. Additionally, for the pool to continue to expand, citizens must feel comfortable coming forward to share their own data for research purposes. This will require the sector to be transparent in how it uses and stores our most personal information. One of the most promising solutions to emerge that addresses these challenges is a Trusted Research Environment, or TRE.
What is a Trusted Research Environment?
A TRE is a highly secure computing environment that offers approved researchers’ remote access to sensitive health data. Users cannot download data onto their local machine but can extract and download answers from their analyses, such as tables and graphs.
TREs represent an opportunity to modernise data management and analysis across the research ecosystem. TREs are already paving the way to greater collaboration in drug development, improvements to existing treatment approaches, and driving better patient outcomes. The UK government endorses TREs, having recently announced an investment package of up to £200 million in TREs and digitally enabled clinical trials4. TREs also form a key part of the NHS’s best practice guidelines laid out in its Data Saves Lives strategy5.
The main benefit of a TRE is privacy. A robust environment will contain secure access controls that can prevent and detect misuse of data. It will also provide transparent and detailed public logs of all actions on patient records, keeping all users accountable.
TREs also offer research institutions substantial efficiency gains. By bringing data into one environment, organisations eliminate silos, as well as reduce the number of data centres and related cost centres. They can also lower cybersecurity risks by reducing the size of the attack surface and create unified research standards and working methods. One of the most exciting benefits of TREs is the opportunity for researchers to collaborate and make use of technologies such as machine learning and AI, helping to drive even faster breakthroughs.
TREs represent a turning point for the sector—in fact, a recent review commissioned by the UK’s Department of Health and Social Care, conducted by Professor Ben Goldacre, has recommended that TREs become ‘the norm’ to help build public trust through improved transparency6. Fortunately, organisations are starting to apply these recommendations.
Leading the charge is the public-private sector collaboration, Our Future Health (OFH), which aims to create a detailed picture of the country’s health through data submitted by a community of volunteers. OFH launched a TRE accreditation process in January 2023, which shows great promise in establishing common requirements for platforms, data governance, security, and privacy. This approach supports a Five Safes framework – safe projects, safe people, safe data, safe settings, and safe outputs.
Room for growth
While TREs offer enormous potential, they are not yet a panacea for the complexities of DNA analysis. TREs are effectively still in their infancy and lack universal standards and guidelines. While many organisations have published best practice guides on creating and managing a TRE, the industry still needs a unified structure to enable federated models and avoid trust-eroding contradictions and discrepancies.
Building and maintaining TRE infrastructure can also be challenging. TREs rely on niche technology that requires highly skilled engineers with comprehensive knowledge of data and compliance—a scarcity in today’s job market.
Building foundations for optimal healthcare
There’s no doubt TREs can support faster discoveries and better patient outcomes. But for TREs to become default practice, they require experts with deep expertise in data management and governance. The sector must also establish universal standards, ethical frameworks, and guidelines around building and operating such environments. Laying these solid foundations is essential for TREs to progress while maintaining their integrity and will cement citizen confidence in data sharing. With lives dependent on data-driven research, TREs could be the key to unlocking highly personalised healthcare of the future.
References
- https://www.genomicsengland.co.uk/genomic-medicine/understanding-genomics?chapter=genome-sequencing
- https://sangerinstitute.blog/2019/03/04/getting-smart-about-artificial-intelligence/
- https://www.washingtonpost.com/news/speaking-of-science/wp/2015/07/07/sequencing-the-genome-creates-so-much-data-we-dont-know-what-to-do-with-it/?noredirect=on
- https://www.england.nhs.uk/blog/collaboration-across-the-system-to-increase-the-privacy-protection-and-speed-of-life-saving-research/
- https://www.gov.uk/government/publications/data-saves-lives-reshaping-health-and-social-care-with-data/data-saves-lives-reshaping-health-and-social-care-with-data
- https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/1067053/goldacre-review-using-health-data-for-research-and-analysis.pdf