Background: Tumour molecular profiling is an important component of precision oncology. The genomic rearrangements identified in tumours now contribute important information to facilitate accurate diagnosis, prognosis and increasingly can guide therapeutic decisions. iPREDICT(iPR) is a national precision medicine study, offering targeted next generation sequencing(NGS) to adult and paediatric patients with high-risk solid tumours with the aim of identifying actionable variants to guide treatment decisions.
Aims: This prospective study was designed to assess patient perception, feasibility and clinical impact of a personalised medicine approach utilising NGS for patients with advanced cancer.
Methods: iPREDICT was conducted across seven hospitals utilising NGS (PMCC Comprehensive Cancer Panel; 391 genes). A molecular tumour board was established to evaluate results and treatment recommendations. A detailed evaluation of the testing process, result delivery and patient and trial staff perception was conducted though validated and study-specific surveys, discrete choice experiments and semi-structured interviews.
Results: Between April 2017- September 2018 315 patients with advanced cancer were enrolled across 7 sites and underwent tumour and matched germline NGS. 84% (265) had successful tests. Of patients with successful tests, 208 potentially actionable findings were detected in 144 (55%). 41 (15%) went on to receive a change in treatment; 6 (2%) avoided therapy thought not to be beneficial, 9 (3%) received new access to funded therapy, 17 (6%) enrolled on targeted trials and 9 (3%) patients commenced off-label therapy. Germline mutations were detected in 46 (17%). A formal evaluation of patient choice and perception of the testing process have provided important insights into health care implementation.
Conclusions: Our findings confirm feasibility of molecular profiling in high-risk solid tumours in the Australian health system. The use of NGS provides a practicable approach that yields a clinically significant rate of variant identification and can lead to change of management for patients.