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Research overview

Professor Clare Turnbull, Translational Genetics Group

The research conducted by Professor Clare Turnbull's group focuses on molecular, statistical and public-health-related population analyses to better implement cancer susceptibility genetics for risk stratification, cancer early diagnosis and prevention. This includes:

  1. Laboratory sequencing and genotyping of germline DNA samples from patients with cancer (especially familial types) to identify and understand new (susceptibility, predisposition) genetic factors associated with cancer.
  2. Clinical interpretation of genetic variants: to understand which of the millions of variants identified on genomic sequencing are pathogenic (disease-associated) and which are benign (innocuous).  Clare leads a multicentre CRUK programme award working with David Adams (Sanger) and Greg Findlay (Crick) to explore the role in variant interpretation of MAVEs (Multiplex Assays of Variant Effect).  She has since 2017 led CanVIG-UK (Cancer Variant Interpretation Group UK), a group comprising >300 NHS clinical diagnostic scientists, clinical geneticists and genetic counsellors that meets monthly to advance national consensus on clinical variant interpretation for cancer susceptibility genes and maintains the CanVar-UK web resource.
  3. Instigating routine central submission of NHS data on germline genetic testing to improve clinical practice and inform research.  Via the Turnbull-led CRUK-funded CanGene-CanVar Catalyst Programme (2019-2025), the 17 NHS diagnostic labs in England now routinely submit to NDRS individual-level data from all diagnostic genetic testing of cancer susceptibility genes.  These data can be linked to cancer registrations and multiple other datasets to understand the national patterns of and outcomes from germline genetic testing for cancer genes.
  4. Public-health related analyses of the efficacy of genomic approaches to improve cancer early detection (screening) and prevention, including MCED population screening and risk stratification by polygenic risk scores.
  5. Transforming NHS clinical patient pathways to enable expansion of germline genetic testing: In 2019 we developed the BRCA-DIRECT pathway (digital pre-test information, saliva sampling, genetic counselling telephone helpline, automated laboratory workflows and systematised clinical communication/correspondences), a clinician-lite, patient-centred pathway for mainstream oncology testing for BRCA=gene changes, hypothesising this would enable expansion of testing volumes without incurring increased pressure on the genetics or oncological workforces.
    Following our CRUK-funded randomised trial in 1400 breast cancer patients in 5 NHS hospital sites, the pathway has been rolled out as a standard-of-care mainstreaming transformation project in North Thames GMSA (2023-2025, for up to 6000 newly diagnosed breast cancer patients).  We have adapted this pathway to enable delivery of The NHS Jewish BRCA Testing Programme (2023-2026) in conjunction with Professor Mike Hubank’s team the RMH Centre for Molecular Pathology.

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