Sano Genetics, Zetta Genomics and Genomics England have partnered to develop a novel system to allow rare disease patients and their caregivers the opportunity to add additional information about themselves to research databases.
The system is designed to add an important layer of patient-derived information to the precision medicine research Genomics England is leading, whereby the individuals can report directly through a device, such as activity or sleep measurements through a watch.
The project has won £450,000 funding from Innovate UK as part of its Digital Health Technology: Collaborative R&D competition.
The system is a first of its kind and comes as part of Genomics England’s commitment to involving participants in research. The initiative will allow for better capturing of additional data directly from patients in the “real world” to further our understanding of disease progression and treatment efficacy from their perspectives. Collecting this information directly from the patients themselves will help to fill in the blanks between doctors’ visits. For example, wearable devices can report on daily activity for patients with neuromuscular conditions such as Duchenne Muscular Dystrophy. The development of this platform will also allow patients to be notified about new research opportunities that may be relevant to them, including clinical trials.
The three collaborating partners have worked together to develop the platform. Sano Genetics developed a platform for patient engagement and is leading the consortium effort to further develop the technology for use in population-scale genomics programmes. Zetta Genomics brings expertise in big data analysis in genomics using open-source software for large-scale genomic data management called OpenCB. Genomics England is at the forefront of the patient partnership through the 100,000 genomes project and Genomic Medicine Service. The collaboration involved two workstreams; the first involves surveys and workshops with patients to influence the features of the platform and the second part is focused around the technical developments of the Sano Genetics platform and OpenCB technology, including stress-testing the systems for scalability using simulated data.
The Innovate UK funding will allow the consortium to develop the technology and go to market in 2021.
The project has support from patients. Jillian Hastings Ward, Chair of the Genomics England Participant Panel, said that “many patients and their families are keen to work with researchers to better understand their health conditions”.
Patrick Short, CEO of Sano Genetics, said that they “hope this collaboration can serve as a model to other research programmes and biobanks” and that although this collaboration is initially focused on rare diseases, the platform can help accelerate precision medicine research in common genetic conditions and cancer too.
You can read more about involving patients in research in our interview with Jillian Hastings Ward, recorded at the Festival of Genomics in January, or in this Genetics Unzipped podcast hosted by Dr Kat Arney.