Over the past two decades, we've ardently pursued an understanding of our genome — the very blueprint of life. It holds intricate instructions for every cell in our body and encapsulates our individuality, influencing our traits, capacities, and predispositions. By delving into our genome, we can unlock pathways to prevent, diagnose, and treat numerous diseases, thus enhancing our overall quality of life.
However, the journey of genomic exploration offers both immense challenges and profound opportunities. Central to this quest is genomic data sharing. This endeavour not only propels scientific discoveries and clinical breakthroughs but, by integrating genomic data from diverse sources and demographics, also strengthens the reliability and robustness of our studies. Collaborative efforts can uncover rare genetic variants, intricate biological interactions/synergies, and fresh insights into disease mechanisms and pathways.
Yet, with the promise of data sharing come notable concerns. These challenges revolve around the privacy risks and autonomy of those who generously share their genomic data. Such data is deeply personal, unveiling not just health details but also heritage, identity, and familial ties. In a world shifting towards decentralised, person-centric data systems, ensuring the rights of individuals over their genomic data is crucial. They should possess the authority to determine the accessibility, use, and terms surrounding their data. Hence, the implementation of dynamic consent mechanisms and fostering ongoing dialogue with data contributors are indispensable.
Furthermore, there's an urgent need to bridge the divide between research and clinical data analytics and sharing. A noticeable dichotomy persists between these sectors, each adhering to its distinct standards, protocols, and platforms. This separation hinders the seamless conversion of genomic discoveries into actionable clinical insights and limits valuable feedback from clinicians to researchers. Integrating genomic data into the healthcare system with an emphasis on interoperability, data quality, and accessibility is imperative.
As our focus intensifies on secure and private genomic information management, multiparty computation and federated learning stand out as essential strategies for data analytics. These cryptographic frameworks enable multiple entities, such as health organisations and research centres, to collaborate without exposing their raw data through mathematically-guaranteed processes. This contrasts the conventional approach where genomic data is encrypted and then shared with approved users, relying on their commitment to data protection. As we transition into the quantum computing era, fortifying our data systems against potential quantum threats is essential. By proactively implementing robust measures, we can harness the expansive potential of quantum computing while guarding against its vulnerabilities.
We delve into these topics and more on this page, spotlighting our research endeavours, publications, events, and resources. Join us in exploring our pioneering work in polygenic risk prediction, dynamic consent, and the intricate task of weaving genomic data into the healthcare continuum.