UKCGG Consensus Meetings

UKCGG Consensus Meetings

UKCGG & Central & South GMSA Consensus meeting on Management of Transgender & Gender Diverse patients with Inherited Cancer Predisposition - October 2022

UKCGG & Central & South GMSA Consensus meeting on Management of Transgender & Gender Diverse patients with Inherited Cancer Predisposition - October 2022

The UK CGG & Central & South GMSA virtual Consensus meeting regarding tthe Management of Transgender and Gender Diverse Patients with Inherited Cancer Risks was held on 6th-7th October 2022. 

The documents here below were made available to attendees in advance of the meeting:

1. Background Reading - a background of the key information which will be discussed in the meeting

2. Inherited Cancer Predisposition - a lay summary of cancer genetics for those without a background in genetics or cancer

3. Additional Resources - a list of websites, organisations, and contacts which may be helpful resources

Background information Fundamentals - Inherited Cancer Predisposition Useful Resources

Presentation recordings - Management of Transgender and gender diverse patients

Please see below for recordings of presentations from expert speakers delivered during the consensus meeting. Please note the recording of the presentation regarding gender-affirming surgery was started late, so is missing the introductory slides. 

Endocrinological management of adult patients with Gender Dysphoria, part 1 Endocrinological management of adult patients with Gender Dysphoria, part 2 Inclusion of LGBT+ Topics in Medical Education Inclusive Family History Questionnaires Inclusive Pedigree Charting Inherited Breast Cancer Inherited Ovarian/Endometrial/Prostate Cancers Gender Identity Services Patients and Pronouns The Patient Perspective Gender Affirming Breast/Chest Surgery

In-meeting polling - results

Please click on the link below to download a PowerPoint outlining results of in-meeting polls. A formal summary document will follow in due course. 

Polls
UKCGG & CanGene-CanVar Virtual Consensus workshop on Whole Genome Sequencing for Paediatric Cancer care

UKCGG & CanGene-CanVar Virtual Consensus workshop on Whole Genome Sequencing for Paediatric Cancer care

  • Paired germline and tumour-based whole genome sequencing has the potential to offer timely identification of potentially targetable drivers of disease, facilitating improved diagnosis and prognostication of disease as well as facilitating genomically-informed treatment decision-making. Furthermore, considering the significant contribution of heritable risk factors to paediatric cancer predisposition, this paired approach enables rapid identification of underlying constitutional genomic aberrations, which, in turn, will allow more accurate estimation of future disease risk, and facilitate early detection and risk-reducing strategies in the proband and their at-risk relatives.
  • As outlined in the NHSe Genomic Testing directories, paired germline and tumour-based whole genome sequencing is available for certain indications, after appropriate pre-test counselling of patient and completion of record of discussion by trained personnel. Reconfiguration of services in Scotland, Wales and Northern Ireland is underway, with a view to aligning test types and indications with the NHSe directories.
  • The most recent iteration of the NHSe National Test Directories (April 2022) indicates that paired germline and tumour-based whole genome sequencing will be available for all malignant tumours* diagnosed in paediatric (aged up to 25 years of age) patients (*excluding certain subtypes of sarcoma). Anecdotally, there have been reports of challenges in implementing pathways to enable WGS, as well as challenges related to reporting of germline findings. Furthermore, different regions reported varying degrees of success in implementation of this new pathway.
  • To address these issues, the UK Cancer Genetics Group (UKCGG), in collaboration with CanGene-CanVar organised a national workshop, held via Zoom on 14th July 2022. UK Cancer Genetics Leads and Genetic Counsellors, Somatic and Germline Clinical Scientists, Pathologists, Paediatric Oncologists and Clinical Nurse Specialists were invited to attend. Please see the links here below for a copy of the agenda, a summary of the discussions from the meeting, a list of delegates and recordings of the presentations.
pWGS Meeting - Agenda pWGS Meeting - Summary of discussions and list of attendees

pWGS consensus meeting - recordings of expert talks

Over the course of the session, we had talks from a number of experts. Given the nature of rare disease, the unique nature of the case studies described in some of the presentations are such that they may be identifiable, and therefore were not recorded. Those talks not including any patient-related information were recorded. Please see links to the recordings to these talks here below. 

What is a WGS test, what can we detect and what can we miss? - Dr Patrick Tarpey Challenges in implementation of WGS from a pathology perspective - Dr John Tadross Consent and Confidentiality - Dr Alison Hall Interpretation, reporting and unexpected findings guidelines - Sandra Hing & Rachael Mein Overview of ACGS best practice guidelines on variant classification and reporting - Dr Terri McVeigh
UKCGG/CanGene CanVar/NHS England Genomic Laboratory Hub Haematology Oncology Malignancies Working Group - Germline predisposition to haematological malignancies Consensus meeting

Germline predisposition to haematological malignancies national consensus meeting

The implementation of whole genome sequencing and large somatic gene panels in haematological malignancies is identifying an increasing number of individuals with either potential or confirmed germline predisposition to haematological malignancy for which a national consensus on clinical management pathways is required for both the affected individual and their relatives.

The UKCGG, CanGene-CanVar and the NHSE GLH Haematological Oncology Malignancies Working Group held a workshop over two days (28-29th April 2022) in an attempt to establish consensus guidelines on the clinical and laboratory pathways and the management of disease-causing germline variation in the following genes:

DDX41, CEBPA, RUNX1, ANKRD26, ETV6, GATA2

Please see agenda, background information, slides and recordings from the sessions here below. 

Summary

Please see the summary of our discussions, and record of statements for which consensus was reached in the document here below.

Germline Predisposition to Haematological Malignancies Consensus Meeting - Day 1

On Day 1, we had a fantastic session with talks on the themes of:

1. Developing a sustainable national infrastructure for assessment and  management of genomic variation predisposing to haematological  malignancies

2. Clinical/laboratory pathways for confirmation of inherited  predisposition: from somatic detection to germline confirmation:  challenging cases

We also posed a number of statements for which consensus was sought - results and overview are included here below.

Click on each of the buttons here below to access slides pertaining to each talk. 

The recording of the talks is available to access by clicking here. 

 

01_Dr Katie Snape_ Introduction and Survey results 02_Prof Clare Turnbull_Progress in variant interpretation for cancer susceptibility genes (relating to solid tumours) CanVIG-UK network 03_Dr Steven Hardy_NDRS_NHSD - National infrastructure for collection and linkage of genomic data 04_Dr James Drummond_Germline Haem Malignancy 05_Dr Jamshid Khorashad_Germline variants in myeloid malignancies 06_Dr Chris Wragg_UK Somatic Variant Interpretation Guidelines (S-VIG) 07_Dr Paula Page and Dr Nick Parkin_Undertaking germline confirmation of somatic findings 08_Dr Katie Snape_Day One Discussions and polling results 09_Dr Terri McVeigh_ Germline Predisposition to Haematological Malignancies National Consensus Meeting Lay Person Summary and Overview

Germline Predisposition to Haematological Malignancies Consensus Meeting - Day 2

On day 2, we focused on the current knowledge regarding phenotypes associated with pathogenic constitutional variants in DDX41, CEBPA, RUNX1, ANKRD26, ETV6, GATA2; as well as the processes around consent, confirmatory and cascade testing in families where such variants are suspected and/or identified. 

Please click on buttons below to access relevant talks. 

The recording of the Day 2 talks is available to access here. 

Because of the paucity of data and evidence regarding natural history and phenotypes associated with constitutional variation in these genes, we did not reach consensus regarding management of unaffected carriers or monitoring of affected individuals. However, we did demonstrate a clear desire to work together to generate evidence to guide best practice - requiring a thoughtful approach to establishing the infrastructure to allow careful follow-up of carriers, but also to prospectively capture relevant data in a standardised and robust manner.  

01_Dr Terri McVeigh_Germline Predisposition to Haematological Malignancies National Consensus Meeting Day 2, April 29th 2022 02_Prof Fitzgibbon, Dr Rio Machin, Dr Kulasekararaj - Genetic predisposition to myeloid malignancies - CEBPA, RUNX1, ANKRD26, ETV6, GATA2 and DDX41 03_Ms Bev Speight_Considerations for consent and cascade screening 04_Dr Katie Snape_End of meeting round up

UKCGG/CanGene CanVar/, BSBMTCT Virtual Consensus workshop on Germline Predisposition to Haematological Malignancies Bone Marrow Transplant Pathways Meeting - July 2022

During the UKCGG, CanGene-CanVar and NHSE GLH Haematological Oncology Malignancies Working Group consensus meeting regarding the management of patients with or at risk of hereditary predisposition to haematological malignancies, it was recognised that a focussed session regarding specific issues related to bone marrow transplant in treatment of haematological malignancies associated with hereditary predisposition was urgently required. This prompted another consensus meeting in collaboration with the British Society of Blood and Marrow Transplantation and Cellular Therapy and involving key stakeholders from all of these groups as well as additional experts in bone marrow transplantation. The virtual meeting was held on 15th July 2022. A summary of the discussion is outlined here below. 

Pathways in BMT

UKCGG CanGene-CanVar Consensus Meeting 2021 – moderate risk ovarian cancer susceptibility genes

A meeting regarding indications for testing of genes in which pathogenic variants confer a moderate risk of ovarian (+/- breast) cancer as well as management of carriers in whom such variants are identified was organised by UKCGG and CanGene-CanVar groups, and held virtually over two days 30th September-1st October 2021. 

Published Consensus Guidelines

Further to this meeting, a summary and position statement was published in the Journal of Medical Genetics. Please click on the link below to download the manuscript -
Hanson H, Kulkarni A, Loong L, et al. UK consensus recommendations for clinical management of cancer risk for women with germline pathogenic variants in cancer predisposition genes: RAD51C, RAD51D, BRIP1 and PALB2. Journal of Medical Genetics Published Online First: 21 November 2022. doi: 10.1136/jmg-2022-108898

Many thanks to all the attendees of the TP53 Screening Guidelines UK Consensus Group Meeting (06/07/2018) for their productive and progressive discussions and a special thank you to:

  • Professor Ros Eeles and Dr Aslam Sohaib from The Royal Marsden who spoke about their experience of WB-MRI and the SIGNIFY study
  • Dr Mette Jorgensen from Great Ormond Street Hospital who spoke about her experience of setting up a Specialist TP53 clinic
  • Dr Angela Brady, Dr Gill Crawford, Dr Louise Izatt and Miss Sarah Gibson who chaired the discussion groups and helped with organisation
  • The George Pantziarka TP53 Trust for their generous sponsorship of this meeting. 

Please see below for relevant documents pertaining to this meeting

 

Info

Consensus Group Recommendations for Cancer Screening in LFS/TP53 mutation carriers

Loading...