Certificate of Achievement
has completed the following course:
Interpreting Genomic Variation: Inherited Cancer Susceptibility
City St George's, University of London (formerly St George's) and CanGene CanVar
This online course explored how germline genomic variation can increase the risk of cancer, and how understanding this variation better can help patients. The course covered topics such as Different variant interpretations in Cancer Susceptibility Genes (CSGs), Adapting the ACMG framework for CSGs, Population data, Computational and predictive data, Functional data, Allelic data, Reputable sources and other data and considerations.
2 weeks, 3 hours per week
Dr Katie Snape
Consultant Cancer Geneticist
City St George's, University of London (formerly St George's)
Transcript
Learning outcomes
- Assess the strengths and weaknesses of the American College of Medical Genetics (ACMG) guidelines for variant interpretation in complex disease, such as cancer, compared to rare paediatric disease
- Explore the different ways in which cancer susceptibility gene variant interpretation can impact on patient care
- Describe the importance of large scale collaborative infrastructure to standardise evidence based variant interpretation in cancer susceptibility genes
- Apply the CanVIG-UK guidelines for variant interpretation to classify variants in cancer susceptibility genes involved in hereditary breast and ovarian cancer and Lynch Syndrome
- Assess the complexities of applying cancer susceptibility gene variant interpretation in clinical practice including the implications of reduced penetrance variants and potential changes in classifications over time
Syllabus
- Inherited genetic variation in familial cancer syndromes.
- Tools for variant interpretation and how these are applied to the interpretation of cancer susceptibility gene variation.
- The application of the ACMG framework to inherited cancer.
- The implementation of a clinical framework to embed cancer susceptibility gene interpretation into clinical practice.
Issued on 8th February 2023
The person named on this certificate has completed the activities in the transcript above. For more information about Certificates of Achievement and the effort required to become eligible, visit futurelearn.com/proof-of-learning/certificate-of-achievement.
This certificate represents proof of learning. It is not a formal qualification, degree, or part of a degree.