Somatic Variant Interpretation Workshop 2018

Somatic Variant Interpretation Workshop 2018

Conference Rooms A&B |  Birmingham Research Park Ltd | Vincent Drive | Edgbaston | Birmingham | B15 2SQ

Aim: To develop guidelines for a consensus approach to interpretation of somatic variants identified through genomic tests in patients with solid tumours and haematological malignancy.

 

9.30-10.00

Registration.

Tea and coffee on arrival

 

10:00-10:10

Welcome and Introduction

Chris Wragg       

10:10-10:45

Feedback from:

Solid Tumour EQA

UKNEQAS LI

 

Jenni Farley

Ashley Cartwright

10:45-11:05

How to establish pathogenicity

How to establish actionability

Kim Reay

Kirsty Russell

11:05-11.20

UK NEQAS for Mol Gen: G-TACT online module

Sandi Deans

11:20-12:20

Lightening presentations (5mins each + time for questions)

Processes to ensure standardisation of variant interpretation across scorers

Somatic variant interpretation tool

ACGS bioinformatics BPG

Current HMDS reporting processes

Germline variant interpretation - how can it be applied to somatic variants/actionability

Case presentation

Case presentation

Variant interpretation methods and interesting cases

Use of commercial variant interpretation software

 

 

 

Matthew Smith (Moth Path, Birmingham)

Kirsty Russell (Bristol)

Kirsty Russell

Jan Taylor (Leeds HMDS)

Dawn O'Sullivan (Aberdeen)

 

Paula Page (Birmingham)

Mamoona Munir (Birmingham)

Nicola Roberts (Manchester)

Dorte Wren (Royal Marsden):

12:20-12:50

Results of the practice variant classification

Results of questionnaire

Joanne Mason

 

LUNCH

 

13:50-15:45

Focussed discussion:

  • Establishing pathogenicity
  • Establishing actionability
  • Differences in approach between Molecular Pathology and Haemato-Oncology
  • Use of open access databases
  • Mainstreaming and education
  • Developing guidelines for a consensus approach to Somatic Variant Interpretation
  • Identify working groups

 

Chris Wragg

15.45-16:00

Next steps and AOB

Chris Wragg

 

End of meeting

 

Co-funded by Association for Clinical Genomic Science (ACGS) and Health Education England (HEE)

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