Dr. Simon Patton

Director at European Molecular Genetics Quality Network (EMQN)

Simon Patton, PhD is currently Director of the European Molecular Genetics Quality Network (EMQN) – the global leader in the provision of External Quality Assessment (EQA) schemes to diagnostic laboratories in the fields of genetics and pathology. He trained at the University of Liverpool in marine biology, before doing his doctorate in Genetics at the University of Cambridge. He is currently at Manchester University NHS Foundation Trust.

Simon’s work has focussed on global improvement in the standards and quality of diagnostic laboratory testing – a field that he has worked in since 1999 through his involvement with the EMQN.

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Title: A global perspective on BRCA gene testing: a new paradigm for molecular testing in breast and ovarian cancer

  • BRCA gene testing is common practice for the clinical diagnosis of hereditary breast and ovarian cancer.
  • Recent advances in molecular genetics testing have identified a number of susceptibility genes related to hereditary breast and/or ovarian cancers other than BRCA1 and BRCA2.
  • The introduction of multi-gene testing for hereditary cancer using next generation technologies has revolutionised the clinical management of high-risk patients and their families.
  • The licensing of PARPi therapies for the treatment of ovarian cancer (and potentially breast cancer) provides a new paradigm for BRCA gene testing, focussed on prediction of therapeutic response, in addition to the hereditary aspects.
  • As a consequence, the testing landscape is changing with BRCA gene testing also being undertaken on tumour samples, often by laboratories from outside of the traditional discipline of human genetics.
  • Consequently, there is a need to ensure that the standards of testing quality are maintained to ensure continued patient confidence in the testing process.
  • My presentation will focus on the changing global landscape of BRCA gene testing and the activities of organisations such as EMQN, which are working on trying to harmonise and raise the standards of clinical diagnostic testing.

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