The Fundamentals of Cancer Genomics
This activity has been supported by a grant from Roche Products Limited and Astrazeneca. Roche products Limited and Astrazeneca have had no control over the educational content of this activity.
These modules have been designed to complement existing resources, supplementing support for the new ‘mainstreaming’ delivery model of germline genetic testing whereby clinicians counsel and consent high-risk patients for genetic testing at the time of their routine oncology appointments.
You are not required to be a member of the Royal College of Radiologists or the Association of Cancer Physicians.
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Course learning objectives
- To describe how genomic information is stored
- To outline different types of chromosomal and genetic variants
- To explain patterns of genomic evolution of cancer
- To outline basis mutation signature profiling
- To define tumour mutation burden
- To distinguish between somatic variants and variants of germline-origin
- To describe consequences of misattribution of pathogenicity to germline genetic variants
- To differentiate between clinically actionable and non-actionable germline variants
- To explain the lines of evidence applied for variant classification
- To correctly interpret variant reports and appraise evidence applied for variant classification
- To distinguish between low, moderate and highly penetrant variants of germline origin
- To classify somatic variants in terms of actionability
- To define mosaicism
- To justify use of different sample types for genetic testing in different clinical scenarios
- To outline steps involved in sanger and next generation sequencing
- To describe uses and limitations of liquid biopsies in cancer care
- To differentiate between MMR deficiency, microsatellite instability, hypermutation and PDL1 expression
- To describe the relevance of MMR deficiency, microsatellite instability, hypermutation and PDL1 expression in immunotherapy response
- To describe reconfiguration of NHS lab services
- To navigate the NHS genomic directory
These interactive, bite-size modules are the first in what will be a series of genomics learning resources with focus on various tumour types.
The course will complement existing medical oncology, clinical oncology, and allied health professional training schemes and clinical experience, to give clinicians a deeper understanding of the molecular biology of cancer, germline predisposition to cancer, and the role of genetic variation in initiation and promotion of cancer.
A unique aspect of this course is that the content will not only address heritable genetic risk factors for cancer but will also emphasise the translational application of somatic and/or genomic results in diagnostics and prognostication, as well as in directing treatment.
Course project group
- Dr Frances Yuille, Clinical Oncologist, Edinburgh Cancer Centre
- Dr Ellen Copson, Cancer Research UK Associate Professor University of Southampton and Honorary Consultant in Medical Oncology, University Hospital Southampton NHS Foundation Trust
- Dr Terri McVeigh, Consultant Clinical Geneticist, Royal Marsden NHS Foundation Trust, Clinical Lead Postgraduate Certificate in Cancer Genetics, RCPI
- Ms Victoria Cuthill, Clinical Manager St Mark’s Polyposis Registry, Genomics Clinical Fellow
- Dr Alison May Berner, Speciality Trainee and Clinical Research Fellow in Medical Oncology and the Barts Cancer Institute, and Specialist Registrar in Gender Identity at the Gender Identity Clinic, Tavistock and Portman NHS Foundation Trust
- Dr Nida Pasha, Royal Free London NHS Foundation Trust
- Ms Natalie McGregor, Learning Executive, RCR
- Ms Amelia Etan, Education Projects Manager, RCR
- Ms Louise Leon-Andrews, Training Quality and Curriculum Officer, RCR
- Mr Philip Wallace, Learning Technologist, RCR
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