GTAC variant interpretation sessions

The Genomics Training Academy (GTAC) is pleased to invite colleagues from the NHS’s specialist genomics workforce to register for free training on cancer susceptibility gene (CSG) germline variant interpretation.

In collaboration with the CanVIG-UK group and colleagues across the Genomic Medicine Service, the GTAC is hosting webinars and virtual workshops to support the two-week FutureLearn course, Interpreting Genomic Variation: Inherited Cancer Susceptibility. This course was developed through the CanGen-CanVar programme (CGCV) in collaboration with St George’s, University of London.

These webinars and virtual workshops offer a chance to further develop understanding and expertise and are designed for the specialist genomics laboratory and clinical workforce as part of the GTAC infrastructure.

For further information, or if you have any questions, please contact the GTAC team

Dates and times

Webinar 1: 19 November 2024, 1pm-2pm
Webinar 2: 28 November 2024, 1pm-2pm
Essentials workshop: 12 December 2024, 1pm-5pm
Advanced workshop: 9 January 2025, 1pm-5pm

Eligibility and registration

Eligibility

This training series is only available to those working in the NHS in a specialist genomics role. The team will review your application and email you within approximately one week to confirm whether you have a space to attend the webinars and workshops.

Registration

To apply to attend for the webinars and workshops, please complete this form by 16 October 2024. Numbers are restricted to 100 learners per webinar and 60 learners per workshop.

Pre-learning requirements

All participants must complete the accompanying FutureLearn course, Interpreting Genomic Variation: Inherited Cancer Susceptibility, by the time this training series begins, ideally starting it on 4 November so that it can be completed within its stated two-week timeframe/before the relevant webinars and workshops. Please sign up directly on FutureLearn.

Course learning objectives

The learning objectives of the accompanying FutureLearn course are:

Critically appraise the strengths and weaknesses of the American College of Medical Genetics (ACMG) guidelines for variant interpretation in genes associated with common disease, such as cancer, compared to rare paediatric disease.
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.
Critically appraise 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.
Consider the different ways in which cancer susceptibility gene variant interpretation can impact patient care.

Webinars

The course learning will be underpinned with two webinars. Sessions will be hosted by specialist clinicians and clinical scientists, providing short presentations on key updates to guidelines, followed by discursive interactive sessions on the course content and issue raised by the presentations.

Webinar 1: 19 November 2024, 1pm-2pm

Webinar themes

Differences between complex and rare disease variant interpretation
Population databases
Computational and predictive data and PVS1

Webinar 2: 28 November 2024, 1pm-2pm

Webinar themes

ACMG framework: functional data, allelic data, reputable sources, gene-specific modification of guidelines for syndromic cancer predisposition
Classification issues in practice: clashing and changing classifications
Evolving landscape: reduced penetrance variants, missense variants in CSGs, population screening

Virtual workshops

Workshops will be case-based. Delegates will review guidelines required for variant interpretation and work through cases in small focus groups with facilitators. Learners will then return to the main group for a discussion around the issues highlighted in practical variant interpretation.

Essentials workshop: 12 December 2024, 1pm-5pm

Webinar themes

Principles of CSG classification and ACMG/CanVIG/VCEP frameworks
Application of CanVIG-UK guidelines for interpretation of variants in genes associated with common cancer predisposition syndromes
BRCA/PALB2
Lynch Syndrome

Learning outcomes

Critically appraise the strengths and weaknesses of the American College of Medical Genetics (ACMG) guidelines for variant interpretation in common disease, such as cancer, compared with rare diseases.
Apply the CanVIG-UK guidelines for variant interpretation to classify variants in cancer susceptibility genes associated with hereditary breast and ovarian cancer and Lynch Syndrome.

Advanced workshop: 9 January 2025, 1pm-5pm

Webinar themes

Application of CanVIG-UK rarer gene specific guidelines (CDH1/PTEN/SDHx/TP53, etc.)
Reclassification: Application of variant reclassification guidelines
Moderate-risk genes/low penetrance alleles in high-risk genes: Application of guidelines in CHEK2/ATM/low penetrance variants in high-risk genes

Learning outcomes

Apply gene specific VCEP/CanVIG-UK guidelines for variant interpretation to classify variants in cancer susceptibility genes associated with rarer cancer susceptibility syndromes.
Critically appraise 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.

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