A novel system which will allow rare disease patients and their caregivers to add additional information about themselves to research databases is being developed by Sano Genetics in collaboration with Zetta Genomics and Genomics England.
The system will add an important layer of patient derived information to the groundbreaking precision medicine research being carried out through Genomics England. The information provided by individuals may be reported by participants directly, for example daily symptom tracking, or by a device such as a watch that measures activity or sleep.
“Many patients and their families are keen to work with researchers to better understand their health conditions. Tools which enable this to happen effectively could lead to exciting new discoveries” says Jillian Hastings Ward, Chair of the Genomics England Participant Panel.
The project won £450,000 grant funding from Innovate UK as part of its competition, Digital Health Technology Catalyst Round 4: Collaborative R&D.
This system is a first and further cements Genomics England’s commitment to participant involvement in research.
This new initiative will lay the groundwork for better capturing additional data directly from patients and their families in the ‘real world’ to learn about disease progression and treatment effectiveness from their perspective. Collecting information about health and wellbeing directly from patients can help fill in the blanks between infrequent doctor visits. For example, wearable devices or digital journals that allow parents of children affected by neuromuscular conditions such as Duchenne Muscular Dystrophy to record daily activity would provide much more detailed pictures of disease progression, or improvement after treatment. Development of a patient platform will also enable patients to be notified about new research opportunities that may be relevant for them, including clinical trials that test new medicines.
Sano Genetics, an SME based in Cambridge, UK has developed a platform for patient engagement in precision medicine research, and is leading the consortium effort to further develop the technology for use in population-scale genomics programmes. Zetta Genomics, an SME also based in Cambridge, brings expertise in big data analysis in genomics using OpenCB, a leading open source software for large-scale genomic data management. Genomics England is a company wholly owned by the UK Department of Health and Social Care that has been at the forefront of patient partnership in precision medicine through the delivery of the 100,000 Genomes Project and the Genomic Medicine Service with the NHS. This collaboration represents another significant step in developing technologies and processes that put the patient voice at the heart of research.
The collaboration involves two main workstreams. The first workstream involves surveys and workshops with patients to influence the features of the platform, and an ethical, regulatory, and legal working group to ensure that any proposed use-cases meet the highest standards in the United Kingdom. Two workshops were held in April with participation from more than twenty participants from the 100,000 Genomes Project and other genetics research initiatives across the UK. A survey of research participants and further workshops will be held in the coming months while the platform is under development. The second workstream is focused around technical developments of the Sano Genetics platform and OpenCB technology, including stress-testing the systems for scalability using simulated data and building capabilities for federated data analysis, whereby data can be only be analysed within ‘safe havens’ such as the Genomics England research environment.
The Innovate UK funding will allow the consortium to develop the technology, and go to market in 2021 with a patient engagement platform for population-scale genomics programmes. This collaboration has the potential to accelerate precision medicine by enabling access to real-world data and patient-reported outcomes on a population scale by making patients genuine partners in the research process.
“We are very excited to develop the Sano platform in collaboration with Zetta Genomics and Genomics England, and hope this collaboration can serve as a model to other research programmes and biobanks. This collaboration is initially focused on rare disease, where there is a huge need to develop new treatments and very dedicated patient groups and advocates. We believe our platform can also help accelerate precision medicine research in common genetic conditions and cancer, and are actively setting up collaborations in these areas as well.” – Patrick Short, CEO of Sano Genetics
“Modern digital technologies enable new paradigms for participant engagement in research. The studies enabled by this and similar initiatives are set to drive significant advances in biomedical science. Advances that ultimately translate into the new precision medicines and diagnostics that will improve patient outcomes for generations to come. We are delighted to be part of this ground-breaking project that puts the participant at its heart.” – Will Spooner of Zetta Genomics
“Collaborative efforts such as this are helping us further explore how additional data sources can be used to impact positively on healthcare, while ensuring that the highest levels of data security and integrity are met along the way.” – Augusto Rendon, Chief Bioinformatician, Genomics England