Implementing genomics: Key strategies for early detection in at-risk populations

Integrate into healthcare systems

Integrating genomic data into electronic health records (EHR) is a cornerstone for using genetic testing in preventive healthcare. The Implementing GeNomics In pracTicE (IGNITE) network has carried out a number of projects highlighting the challenges of integrating genomic information into EHRs and has identified three recurring issues which need to be addressed:

• Increase the priority of integrating genomics within the health system by providing practical technical solutions such as data warehousing techniques
• Strengthen clinicians’ knowledge and literacy around genomic medicine through education (Read more about how the roles of healthcare professionals are changing as precision medicine evolves, here.)
• Increase patient engagement in genomic medicine projects by encouraging active participation in making healthcare decisions

Build public trust and buy-in

Public trust is crucial for the successful implementation of genetic testing. Addressing mistrust around data handling, particularly in communities of colour that have experienced systemic racism, is essential. Education on the benefits of data-sharing for research and healthcare solutions is key to increasing public buy-in and encouraging personal data sharing.

A prime example of this is the forced suspension of the NHS General Practice Data for Planning and Research scheme, when more than a million people opted out of patient data-sharing in under a month in June 2021. Three years later, following the public outcry over privacy and data security concerns, the scheme is still in the process of being redesigned from the bottom up and remains paused with no planned restart date.

Drive funding

Access to funding for sequencing, data processing, and integration are frequently cited as major blockers to more widespread use of genomic data in healthcare. Establishing the infrastructure required to store large volumes of confidential data and keeping pace with rapidly evolving technology demands significant investment. Additionally, the need for sustainable funding models is paramount, as short-term financial support could hinder the continuity and expansion of genomic programmes. 

Since 2013, governments across at least 14 countries have invested more than $4 billion in establishing national genomic-medicine initiatives to address these barriers.

Improve security

Ensuring robust security practices are in place will not only enable safe and effective data integration but serve to build public trust and encourage a culture of data sharing to support collective research goals. Protecting the confidentiality, integrity, and availability of genomic data therefore continues to be a foundational element of effective global data sharing.

Collaborate across sectors

Effective collaboration and data sharing across industry, academia, and healthcare is vital for leveraging genomic data to make precision medicine a reality. The number of publicly-available scientific data resources is ever-increasing and providing new models for how data sharing can lead to clinical breakthroughs. With common data sharing principles and a culture of data sharing (rather than competitive privatisation) in place it’s possible that new, high-impact treatments will be able to reach patients faster than ever before.

Examples of collaborative genomics resources and initiatives include:

• Open Targets - A freely-available, comprehensive, and open source tool that aggregates multiple public data sources and helps scientists identify and prioritise potential therapeutic drug targets for further investigation.
• UK Biobank - A large-scale biomedical database and research resource containing de-identified genetic, lifestyle, and health information and biological samples from half a million UK participants. Researchers can apply for access to support their work.
• The International Genome Sample Resource (IGSR) - Created by the 1000 Genomes Project, the IGSR is the largest public catalogue of human variation and genotype data. It uses openly-consented samples from people who declared themselves to be healthy.
• All of Us Research programme - A research project inviting one million people across the US to help build one of the most diverse health databases in history to ensure inclusivity in research.

Collaboration through data unification, processing, and sharing ultimately holds the key to unlocking the full benefits of genomic insights for patients, particularly in the context of prevention and early detection in at-risk populations. To learn more about the work Sano is doing in this area, including our recent launch of the MND/ALS research programme Light the Way, please get in touch below.