Interpretation of Genomic Test Results

INTERPRETATION OF GENOMIC TEST RESULTS A two day multi-disciplinary workshop with a focus on the interpretation of genomic test results for endocrine, germline cancer and inherited cardiac conditions

3rd and 4th March 2020 Day 1: 10:00 – 17:00 Rougemont Hotel Day 2: 09:30 – 16:30 Reed Hall, University of Exeter EXETER.AC.UK/MEDICINE

CONTINUING PROFESSIONAL DEVELOPMENT

LEARNING OUTCOMES OF THE COURSE The participants will be able to: 1. Describe the basic concepts of using next generation sequencing technologies to identifying rare genomic variants 2. Understand the different approaches to genomic data filtering and variant prioritisation 3. Select appropriate genome browsers, databases and in silico tools to gather pertinent information for variant classification and interpretation in the context of the clinical presentation (e.g. gnomAD, DECIPHER, Ensembl and Alamut) 4. Describe the principles of the ACGS version of the American College of Medical Genetics variant interpretation guidelines and the way these are currently applied within the Genomic Laboratory Hubs and Genomic Medicines Centres 5. Recognise the importance of conducting variant interpretation in the context of the phenotype as described by human phenotype ontology (HPO) terms 6. Describe the role of the genomic MDT in variant interpretation and apply this learning in the workplace

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PROGRAMME DAY 1 Tuesday 3rd March 2020 Rougemont Hotel Introduction to tools for variant interpretation All of the workshop sessions will be undertaken in small groups each facilitated by a faculty member.

Time

Topic

Speaker

09:30-10:00

Tea/coffee and registration

10:00-10:10

Welcome

10:10-10:45

Interactive quiz to assess prior knowledge

Julia Baptista and Emma Baple

10:45-11:35

Key concepts for variant interpretation (introduction to next generation sequencing, read depth, coverage, databases, transcripts, variant nomenclature and in silico tools)

Julia Baptista, Emma Baple and Matthew Wakeling

11:35-11:45

Tea/coffee

11:45-12:45

Database workshop to cover genome browsers (Ensembl), population and variation databases (gnomAD, ClinVar)

12:45-13:00

Q&A session to cover the topics discussed

13:00-14:00

Lunch

Caroline Wright

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Time

Topic

Speaker

14:00-14:45

Introduction to the ACGS Sian Ellard and version of the American College Emma Baple of Medical Genetics variant interpretation guidelines, variants of uncertain significance and MDT working

14:45-16:30

Workshop: example cases

Julia Baptista and clinical scientist team

16:30-17:00

Interactive quiz to assess day’s learning and feedback

Julia Baptista and Emma Baple

Time

Event

Location

19:00-19:30

Evening Networking Event

Rougemont Hotel Bar

19:30

Evening meal

Rougemont Hotel

PROGRAMME DAY 2 Wednesday 4th March 2020 Reed Hall, Streatham Campus Case-based variant interpretation All of the workshop sessions will be undertaken in small groups each facilitated by a faculty member.

Time

Topic

09:00-09:30

Registration

09:30-09:40

Q&A session to cover the topics discussed

09:40-10:00

HEE resources and competency framework

10:00-10:15

Tea/coffee

10:15-11:45

Concurrent workshops (using case-based examples): Deciding which test to do and interpretation of genomic test results for endocrine cancer predisposition syndromes

Speaker

Amanda Pichini

Chris Bowles, Martina Owens and clinical scientists

Deciding which test to do and James Ware and principles of variant interpretation Ellen Thomas for inherited cardiac conditions 11:45-12:30

Communicating genomic results and discussing uncertainty

12:30-13:15

Lunch

Christine Patch

Join the conversation and share your thoughts @ExeterMedCPD using #ExeterGenomics

Time

Topic

13:15-15:15

Concurrent Workshops (using case-based examples):

Speaker

Interpreting genomic test results for germline cancer predisposition, speciality specific ACMG guidelines, CanVIG resources

Clare Turnbull and clinical scientists

Interpreting genomic test results for inherited cardiac conditions, speciality specific ACMG guidelines and useful resources

James Ware and clinical scientists

Interpreting genomic test results for endocrine disorders

Kash Patel, Kev Colclough and Martina Owens

15:15-15:30

Tea/coffee

15:30-16:00

Interactive quiz to consolidate learning

16:00-16:30

Closing remarks, course feedback and CPD exercise

Clare Turnbull, James Ware and Kash Patel

POSTGRADUATE AND CONTINUING PROFESSIONAL DEVELOPMENT at the University of Exeter College of Medicine and Health

The University of Exeter College of Medicine and Health offers a range of impactful and innovative Postgraduate Taught programmes and Continuing Professional Development opportunities. These aim to equip healthcare professionals with the advanced skills and knowledge they need to make a positive contribution to the delivery of care.

Covering an array of highly relevant themes from allergies and genomics to extreme medicine and applied health services, our programmes facilitate and effect real change in the quality of clinical care and health for individuals and the wider community.

We have an exciting Genomic Medicine programme including the options to do a full MSc, PgDip, PgCert and/or standalone modules, including some fully online courses. The programme has been developed by Health Education England and is aligned with their vision to prepare the NHS for the legacy of the 100,000 Genomes Project.

CONTACT US

01392 722964

For Postgraduate Taught Programmes contact:

UEMS_CPD@exeter.ac.uk

exeter.ac.uk/enquiry

or visit us at: exeter.ac.uk/medicine/cpd

or visit us at: exeter.ac.uk/ medicine/study/pgt

For CPD opportunities contact:

2020UEMS007

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