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Using Genetics in Mainstream Medicine to Deliver Personalised Care for Cancer Patients.

Nazneen Rahman

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Wellcome Trust (WT)
Knowledge of the germline genetic variants associated with cancer causation and treatment has considerable clinical impact and is increasingly essential for the optimal management of people with cancer. However, currently, cancer gene testing is severely restricted; there is no NHS gene test for over 50% of known cancer predisposition genes and there are tight restrictions on access to gene testing. For example, hundreds of women with ovarian and/or breast cancer are not eligible for NHS testing of BRCA genes, despite their proven benefit in cancer management. The current restrictions are due to the expensive, laborious testing methods employed. Next-generation sequencing offers a solution as it will allow screening of many more genetic variants in many more people, at much lower cost. We will develop a next-generation sequencing assay (the CaPS panel) that analyses all germline genetic variants of relevance to cancer. We will also develop the necessary analytical and clinical infrastr ucture required for its NHS implementation through mainstream medicine. The availability of CaPS panel testing will rapidly increase the number of people able to benefit from cancer gene testing.

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