Poster Number
36
Poster Title
Insights: A standards-first platform for enabling collaborative access to paediatric genomic data
Authors
1Kamile Taouk, 1Dimitri Tsardakas, 1Youjin Shrestha, 1Gawnesh Paatni, 1Angeline Bonnet Veeneman, 1,2Mark J. Cowley, 1,2Marie Wong-Erasmus
1 Children’s Cancer Institute, Randwick, NSW 2031 Australia
2 School of Clinical Medicine, UNSW Medicine & Health, UNSW Sydney, Sydney, NSW, Australia
1 Children’s Cancer Institute, Randwick, NSW 2031 Australia
2 School of Clinical Medicine, UNSW Medicine & Health, UNSW Sydney, Sydney, NSW, Australia
Abstract
Childhood cancer is the leading cause of disease-related death in the world. The ZERO childhood cancer precision medicine program offers unique insight into a child’s cancer to identify treatment options. Pan-cancer analysis shows significant differences in cancer between children and adults, including new categories of tumor-driving events. The lack of standardised clinical and omics data is a major obstacle to improving cancer care and treatment. It's crucial to link patient data from various genomics research organisations in a consistent manner to enhance methods and speed up the discovery of new therapies.
To achieve the goal of data sharing, best practices involve implementing global standards that are open source and secure. Here we present Insights, a comprehensive user interface that aims to capture the full workflow from data discovery to data access while utilising key open source standards. Funded by Bioplatforms Australia through the Australian Government’s National Collaborative Research Infrastructure Strategy (NCRIS), Insights is a result of cutting-edge design paradigms intended to streamline and standardise several workflows, each of which have been difficult to navigate historically. This state-of-the-art user experience is built upon the HL7 FHIR data model and the standardised API it offers; the ETL protocols we define will conform to numerous ontologies where applicable. The user interface will facilitate the discovery of individuals with specific genetic variants and clinical phenotypic features without compromising their privacy or confidentiality, while providing the user with a powerful statistical overview of the cohort data. User auth is handled by CILogon, providing a standards-compliant, federated authentication. Authenticated users will have access to advanced querying capabilities, including the perusal of clinical treatments, metadata and the management of virtual cohorts. The roadmap for Insights includes integration with REMS (managing standardised data access requests), ELSA (managing file-level access), DRS (GA4GH protocol for file sharing), VRS (GA4GH standard for genetic data) and OMOP (open source data standard). Insights aims to reinforce GA4GH’s vision for a federated, collaborative genomics ecosystem.
To achieve the goal of data sharing, best practices involve implementing global standards that are open source and secure. Here we present Insights, a comprehensive user interface that aims to capture the full workflow from data discovery to data access while utilising key open source standards. Funded by Bioplatforms Australia through the Australian Government’s National Collaborative Research Infrastructure Strategy (NCRIS), Insights is a result of cutting-edge design paradigms intended to streamline and standardise several workflows, each of which have been difficult to navigate historically. This state-of-the-art user experience is built upon the HL7 FHIR data model and the standardised API it offers; the ETL protocols we define will conform to numerous ontologies where applicable. The user interface will facilitate the discovery of individuals with specific genetic variants and clinical phenotypic features without compromising their privacy or confidentiality, while providing the user with a powerful statistical overview of the cohort data. User auth is handled by CILogon, providing a standards-compliant, federated authentication. Authenticated users will have access to advanced querying capabilities, including the perusal of clinical treatments, metadata and the management of virtual cohorts. The roadmap for Insights includes integration with REMS (managing standardised data access requests), ELSA (managing file-level access), DRS (GA4GH protocol for file sharing), VRS (GA4GH standard for genetic data) and OMOP (open source data standard). Insights aims to reinforce GA4GH’s vision for a federated, collaborative genomics ecosystem.