Arina Puzriakova - Crowdsourcing and curation prioritisation for maintenance of clinical gene panels
Channel: Biocuration Conference 2023
Date: 22/06/2023

*Title:* Leveraging crowdsourcing and curation prioritisation for maintenance of clinical gene panels

*Session:* April 26 - Community 2

*Abstract:* Genomics England’s PanelApp (https://panelapp.genomicsengland.co.uk/) is a knowledgebase which stores virtual gene panels relating to human conditions including rare diseases and cancer. It supports England’s NHS Genomic Medicine Service (GMS) by defining focused panels of genes with convincing evidence of disease causation. Such genes are deemed suitable for clinical genome interpretation, in turn enhancing diagnostic ability in a clinical setting. Support for gene involvement in a human disorder is derived from a combination of sources including published scientific literature and evidence from experts in the scientific and clinical communities, submitted as PanelApp gene reviews – a powerful integrated feature of the web interface. However, with the large volume of data relating to gene-disease relationships, maximising impact on scientific or clinical decision-making has become increasingly challenging. Manual curation remains integral for making final decisions on gene panel content, but due to the demands of maintaining nearly 200 panels, PanelApp curators have developed methods for prioritising gene-disease associations for assessment. External reviewer activity is extracted weekly, and reviews are automatically assigned categories of priority based on current and suggested gene rating classifications, ensuring evidence that may lead to changes to diagnostic-grade genes is assessed in a timely manner. Tracking tickets are created and assigned to curators based on disease specialities, enabling curators to become familiar with disease areas and specific panels. Tracking of reviews also enables concerted curation effort on the most frequently used panels, facilitating focused investigation with maximal downstream patient benefit. In parallel this highlights panels with minimal activity allowing curators to attribute this to limitations in disease knowledge or unmet community engagement needs. Active engagement of the PanelApp team with reviewer communities increases the valuable contributions from clinical specialists and aids delivery of results that are aligned with current clinical expertise. High quality panels have been shown to increase diagnostic yield in the NHS GMS, driving improved clinical utility for patients with rare diseases and cancer, and further emphasising the importance of a strategic approach for effective panel maintenance by curators.