Although Next Generation Sequencing (NGS) has significantly increased our understanding of cancer, a wide gap exists between research findings and clinical implementation1. This tardiness may be related to multiple factors including sample degradation, assay and data complexity and the clinician’s ability to understand and utilize the vast information reported2. There is a need to establish a pathway for integration of personalized medicine into patient care in a clinically accessible and economically rational way.
To establish NGS testing for six high priority cancers; colorectal, gynaecological, lung, melanoma, sarcoma and neurological cancers. The utility and feasibility will be assessed and the data collected will add to our knowledge of the prevalence of known and targetable mutations in these cancer subtypes in WA.
Fifty consented patients per cancer type will have tumour tissue sequenced using a 170 gene NGS panel. Each variant’s significance is interpreted with respect to published literature, cancer and trial databases and classified as per College of American Pathologists guidelines3. The interpreted NGS report is presented to a Molecular Tumour Board (MTB) comprised of scientists, clinicians and pathologists, and clinical utility and economic parameters assessed. The finalized reports are sent to the requesting clinician, and the patient’s case reviewed regularly to determine any clinical benefit arising from the NGS result.
The laboratory and bioinformatics workflow has been established using the Illumina TST170 gene NGS panel on the NextSeq instrument and Pierian Dx Clinical Genomics Workspace software. To date, 35 cases have been discussed at MTB meetings. In the majority of cases NGS has provided clinically significant information that was not available from routine molecular testing.
This pilot study has successfully commenced. Initial results will be presented.