The Mainstreaming Cancer Genetics Programme: Integrating genetic testing into routine clinical practice


Session type:

Clare Turnbull1
1The Institute of Cancer Research, London, UK


Genetic testing of cancer predisposition genes is one of the major activities of clinical genetics. Currently, nearly 100 genes associated with predisposition to cancer are known, but in most countries testing is very restricted with respect to the number of genes and the number of people tested. 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 next generation sequencing (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 are using 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 oncologists, with only the mutation carriers seen by geneticists. Predictive testing (i.e. in unaffected individuals) will continue to be undertaken in genetics. We have developed protocols and e-learning modules to deliver the required training for oncologists. We hope this model will allow throughput of testing to greatly increase, whilst retaining input and support from genetics, where it is required. We are currently piloting the new model in ovarian and breast cancer patients at the Royal Marsden Hospital.