Abstract 4705: Integrating germline cancer predisposition gene testing into routine clinical practice - The Mainstreaming Cancer Genetics programme

Abstract

Abstract Over 100 cancer predisposition genes with clinical utility are recognised. Testing of these genes is increasingly in demand and is one of the major activities of Clinical Genetics. However, in most countries, testing is very restricted with respect to the number of genes and the number of people tested. Furthermore, the value of genetic testing in individuals with cancer is underappreciated; it provides important information with respect to the cause and optimal treatment of the current cancer, and the risk and optimal management of future cancer. Moreover, testing cancer patients followed by cascade testing of mutation carriers is an effective and efficient way of identifying unaffected mutation carriers in whom screening and risk-reducing strategies can be deployed. The Mainstreaming Cancer Genetics (MCG) Programme is a UK national cross-disciplinary initiative to develop the NGS assays, analytical and interpretive pipelines, clinical infrastructure, training, ethical and evaluation processes required for routine genetic testing to be integrated into cancer patient care. In collaboration with Illumina we have developed a NGS panel targeting 97 cancer predisposition genes with >1500 probes (called the TruSight cancer panel) and have completed detailed evaluation of performance, sensitivity and specificity under different levels of multiplexing, coverage and throughput. We have developed bespoke analytical pipelines developed for high-throughput clinical diagnostic data analysis (called GAMA) and clinical interpretation (called CIGMA). We are implementing a new mixed-model of cancer gene testing whereby consent for medical testing (i.e. in cancer patients) is undertaken by trained oncologists, with only the mutation carriers seen by geneticists. Predictive testing (i.e. in unaffected individuals) continues to be undertaken in genetics. We have developed protocols and e-learning modules to deliver the required training for oncologists to consent for testing. The system is faster and cheaper, whilst retaining flexibility and robustness to provide increased input where required. We are completing a 6 month pilot that has included >100 patients and we are acquiring patient and clinician feedback, the results of which will be presented. www.mcgprogramme.com Citation Format: Nazneen Rahman, The Mainstreaming Cancer Genetics Consortium. Integrating germline cancer predisposition gene testing into routine clinical practice - The Mainstreaming Cancer Genetics programme. [abstract]. In: Proceedings of the 105th Annual Meeting of the American Association for Cancer Research; 2014 Apr 5-9; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2014;74(19 Suppl):Abstract nr 4705. doi:10.1158/1538-7445.AM2014-4705