18. The Melbourne Genomics Health Alliance Lymphoma Flagship.

Non-Hodgkin lymphoma (NHL) encompasses a genomically heterogeneous group of diseases; some subtypes may be characterised by somatically acquired variants. There is increasing evidence genomic and/or transcriptomic characterisation of NHL informs better patient management, but a health economic argument is required to justify inclusion in routine clinical practice. The Melbourne Genomics Health Alliance Lymphoma flagship, a collaboration between three Melbourne-based health services, investigated the role of exome sequencing in the management of aggressive or poor prognosis Non-Hodgkin lymphoma. The flagship assessed variants leading to alterations of prognosis, diagnosis or therapy which would potentially lead to management changes, consistent with AMP/ASCO/CAP consensus guidelines. The flagship also investigated associated health economic implications. A total of 122 patients were enrolled on the flagship, of whom 91 (76%) were suitable for testing, the majority of testing exclusions were due to insufficient availability of template for testing, reinforcing the importance of pre-analytical sample collection aspects. Paired tumour/germline exomes were interrogated across 150 candidate genes including parallel copy number analysis. Limited orthogonal testing was conducted with a diagnostically accredited targeted sequencing panel and the Illumina 850K SNP microarray to confirm result validity. The majority of the cohort was comprised of de novo (44%) or transformed DLBCL (15%) cases. A mean of 10.6 somatic variants per patient were detected, of which 50% were classified as tier I variants. A number needed to test to potentially change management of <2 was calculated, health economic analysis is ongoing but early data is strongly supportive of routine use in clinical practice.Copyright © 2019