Equity in Genomics Working Group

The Centre of Excellence designation initiative recognises and awards neuro-oncology centres for their excellence in patient treatment, care and research. To date, nearly all centres in  the UK have been through the extensive assessment process, with this data now used to share areas of excellence and improve gaps in services through the Tessa Jowell Academy.

From 2020- 2022, the initiative collected genomic testing data from 28 centres. The data demonstrated significant variation in genomic testing and an inequity in access, with centres differing in the number of patients tested, the type of tests submitted and how quickly results were reported. NHS England has committed to extended access to molecular diagnostics and offer genomic testing routinely to all people with cancer, however this is not currently reflected in clinical practice across the country.

Aim: The genomics working group aims to create actionable solutions to help centres across the UK offer timely and comprehensive genomic testing

Progress: An initial Working Group of representatives has been convened to discuss unmet needs in genomic testing nationally and how to address them. The first meeting took place on the 13th of July 2022 (see details below). The next meeting will take place in September 2022.

The current Working Group includes representatives from NHS Centres, NHS Genomics Laboratory Hub, Tessa Jowell BRAIN MATRIX and the Minderoo Precision Medicine Clinic and is open to others who would like to join. It is the aim that over time, all centres across the UK will be included to tackle inequality in access to genomic testing. To find out more or get involved in this working group, please email Director of Programmes Camille Goetz– camille.goetz@tessajowellbcm.org.

Notes from 13th July meeting: 

1. Ensure every patients’ tumour is frozen

  • Increase freezer space capacity in sites through an increase in funding and guidelines
  • Convince trusts that it is key to freeze and keep samples for each patient
  • Understand individual centres’ barriers to increasing sample collection capacity

2. Establish criteria that will trigger testing including

  • Tests that will change clinical management of patient
  • Tests that are funded (differs for devolved nations)
  • Create a standardised request form for all UK centres

3. Overcome barriers that challenge recruitment of patients to Brain Matrix

Key discussion points: 
• Learnings from Brain Matrix suggest barriers to facilitating genetic testing are primarily around capacity and resourcing for collecting and storing tissue, with significant variation in readiness between centres.
• Due to rapid changes in genomic testing and neuropathology staffing shortages, workload has significantly increased and complexity of reporting has grown. This has not been appropriately accounted for in the workforce.
• For GLAs, it is important to ensure that samples arrive quickly, early and with enough tissue.
• Ensuring that analyses are succinct and useful for MDTs, as well as received within an appropriate time frame, is a challenge in whole genome sequencing
• It would be ideal to test for mutations upfront so that clinicians are aware as early as possible of possible treatment options as a result; however due to capacity issues and relevance (some patients may progress too quickly, other mutations will never be reacted on) this is not currently happening.
• In different centres, testing is triggered at different points in the pathway (e.g. clinician triggered or neuropathologist triggered). This has led to different approaches to which patient is selected for testing.
• Patients are becoming increasingly knowledgeable about whole genome testing and more demanding as a result. There is huge disparity in how and if tumour samples are collected (e.g. frozen vs paraffin or length of time tumour samples are kept)
• Trusts need to be convinced that samples are worth keeping/ that this is something that patients would like. This creates a disparity in if and how samples are stored. Need to ensure all sites store tissues appropriately.