Background: Comprehensive tumour genomic profiling can identify mutations driving cancer progression, allowing clinicians identify targets for anti-cancer therapies. We report the impact of Comprehensive Next Generation Sequencing (NGS) on patient management and outcomes in a large tertiary cancer referral centre.

Methods: Between December 2017 to June 2024, 696 NGS results from 679 patients were uploaded into the Chris O’Brien Lifehouse medical record system. 104 patients with inadequate clinical information were excluded. Clinicopathological characteristics including tumour type, treatment and RECIST 1.1 response were analysed.

Results: Of the 575 patients included in our study, 51% were male and the median age was 62 (17-90) years. The most common cancer types included were sarcoma (n = 206, 36%), lung (n = 71,12%), gynaecological (n = 51, 9%) and colorectal (n = 49, 9%). NGS was accessed through molecular screening programs (e.g. CaSP-OMICO) and private funding (e.g. Foundation One CDx) and included an array of different platforms (e.g. FoundationOne CDx, TSO-500, TruSight Oncology 500, AVENIO).

NGS results guided subsequent treatment in 99 (17%) patients: 78 (14%) patients going onto trials with targeted therapies, 18 (3%) accessing treatment through self-funding or compassionate access programs and 2 patients accessing treatments through both methods. For one patient, NGS resulted in a change of diagnosis. Of the 99 patients, the most common tumour types included sarcoma (30%), lung (21%), biliary (16%) and gynaecological (11%).

The response to NGS guided therapy was evaluable in 85 patients and these patients had a median progression free survival of 5.0 months. 49/575 (9%) had demonstrated clinical benefit (RECIST 1.1 stable disease in 31, partial response in 18) with a duration ranging from 2 to 64 months.

Conclusion: For a small group of patients, NGS proved valuable in changing their management and improving their outcomes.