All are invited to the online Bradford Hill Seminar:

Expanding testing of cancer susceptibility genes from the clinic to the population: exploring the evidence gaps

Professor Clare Turnbull

Institute of Cancer Research

Register to attend

Please note this will be an in-person (Large Seminar Room, East Forvie Building, Forvie Site, Robinson Way, Cambridge CB2 0SR).

Register in advance to attend at:

https://www.phgfoundation.org/upcoming-event/expanding-testing-of-cancer-susceptibility-genes-from-the-clinic-to-the-population-exploring-the-evidence-gaps/

Abstract

Traditionally, clinical genetics services offered ‘reactive’ testing of specific cancer susceptibility genes (CSGs) to those with the corresponding classical presentation. Increasingly, cancer susceptibility gene germline pathogenic variants (CSG-GPVs) are being looked for much more ‘proactively’, including wide germline, tumour and/or ctDNA genomic analyses performed routinely in cancer patients to inform oncological therapeutics, return of secondary findings, direct-to-consumer offerings and population genomic testing programmes. Thus, whilst CSG-GPVs were historically identified reactively in individuals (and their families) who already knew themselves to have ‘extreme’ disease (young onset, syndromic or familial cancers), CSG-GPVs are increasingly being identified proactively in individuals not previously concerned about genetic cancer susceptibility, namely (i) via a ‘routine’ cancer presentation, (ii) coincidental to their presenting cancer or (iii) in the well population. Within this new landscape of assigning many more to individuals to the lifelong implications of being a CSG-GPV-carrier, it is critical to evaluate the robustness of evidence regarding disease penetrance and the efficacy of our interventions for early detection and prevention, to ensure such assignations provide net benefit over harm.

About Professor Clare Turnbull

Clare is Professor of Translational Cancer Genetics in the Division of Genetics and Epidemiology at the Institute of Cancer Research, London and an NHS consultant in Clinical Cancer Genetics at The Royal Marsden. Her research focuses on statistical, population and public-health-related analyses to inform clinical implementation of cancer susceptibility genetics. Research areas include (i) discovery of novel genes/genomic variants associated with cancer susceptibility (iii) Clinical interpretation of variant pathogenicity (iii) assembly, linkage and longitudinal analyses of routine NHS datasets, including working with NDRS to achieve nationally comprehensive submissions of genetic data from NHS genomic laboratory hubs (iv) evaluation of the clinical utility and impact of genomic risk stratification for cancer early detection and prevention. A key area of focus over the last five years has been working in partnership with CRUK and NHS England Cancer Programme on development of pragmatic, high-throughput pathways for scaling of NHS genomic testing, focusing first on the BRCA genes (including the BRCA-DIRECT North Thames mainstreaming programme, the national NHS Jewish Community BRCA testing programme and the national NHS Retrospective BRCA-testing programme).

Clare studied undergraduate medicine at Cambridge, clinical medicine at Oxford, undertook a Masters in epidemiology and public health at the London School of Hygiene and Tropical Medicine and a PhD in statistical genetics at The Institute of Cancer Research. From 2015 to 2020, Clare worked at Genomics England as Clinical Lead for Cancer Genomics for the 100,000 Genomes Project

About the Bradford Hill seminars

The Bradford Hill seminar series is the principal series of The Cambridge Population Health Sciences Partnership, in collaboration with the PHG Foundation. This comprises the Departments of Public Health & Primary Care, MRC Biostatistics Unit and MRC Epidemiology Unit at the University of Cambridge, bringing together a multi-disciplinary partnership of academics and public health professionals. The Bradford Hill seminar programme of internationally recognised speakers covers topics of broad interest to our public health research community. It aims to transcend as well as connect the activities of our individual partners.

All are welcome at our Bradford Hill seminars.