128 GeL2MDT – a novel software solution to manage patient results from the 100, 000 genomes project. (December 2018)

• Record Type: Journal Article
• Authors: Lombard, Patrick; Cole, Theo; Stone, Edward; Clokie, Sam; Ahlfors, Helena
• Is Part Of: Archives of disease in childhood. Volume 103:Supplement 2(2018)
• Page Start: A52
• Page End: A52
• Publication Date: 2018-12
• Subjects: Infants -- Diseases -- Periodicals; Newborn infants -- Diseases -- Periodicals; Fetus -- Diseases -- Periodicals; 618.920105
• DOI: 10.1136/goshabs.128
• Languages: English
• ISSNs: 1359-2998

Abstract

Abstract : GeL2MDT is a unique software solution that helps clinicians and clinical scientists manage patient results generated by Genomics England (GEL) for the 100, 000 Genomes Project. This interactive software combines a backend database that communicates directly with GEL to download patient, phenotype and genetic variant data, and a frontend web interface, that presents this data to healthcare professionals to interact with this information. GeL2MDT not only safely retrieves all relevant data programmatically from GEL, but also provides means for scientists to track, manage, review and audit cases from the Genomic Medicine Centre (GMC), communicate the results with clinicians, set up and invite participants to MDT meetings, record conversations and actions during MDT and return statistics to NHS England. GeL2MDT significantly improves patient safety by streamlining the reporting and validation workflow of samples returned from the 100, 000 Genomes Project. It has made the processes fully traceable, resulting in a greatly reduced risk of data loss, accidental change, or corruption. The streamlining of processes means there is a decreased risk of patients being sent incorrect results, thereby representing a direct increase in clinical safety and improved turn-around times for delivering results to the patients. GeL2MDT has already set a precedent of how GMCs manage results from the 100, 000 Genomes Project and communicate with GEL. No similar application is available either commercially or open-source to our knowledge.