Workshop 1 – 100,000 Genomes

Speakers: Dr Paul Brennan, James Fisher & Louise Jones
North East & North Cumbria Genomic Medicine Centre

The 100,000 Genomes Team aims to embed whole genome sequencing into patient pathways. You will be given the national perspective and political context and invited to various ‘stations’ to tell us what they need to do to make this happen.

The Worksop addressed what is needed to ensure whole genome sequencing happen as business as usual:

  • Identify suitable and eligible patients
  • Invite patient to take part after they have had diagnosis
  • Informed consent for whole genome sequencing
  • Pre-op bloods & send for DNA extraction
  • Tumour tissue put in DRY container & sent to pathology
  • Tissue selection for DNA extraction

The workshop was divided into four stations each dedicated to a specific issue, the key points from these are:

  1. Identifying Patients
  2. Consent
  3. Theatres
  4. Laboratories

100000 genomes project,

This is treatment design for the future. DNA sequencing to find out more about rare conditions and cancer to help design and target treatment for the future. Can take 6 week for sequencing at present but then a great opportunity to target treatment more appropriately.

Issues around recruiting patients / consent/ practical management of samples in theatres and then getting them to the lab and management in the labs.

There needs to be a move in theatres to using more fresh frozen samples  – information about how to do this is on the 100000 genome website.

If this became standard care then consent can be obtained retrospectively. This has helped recruitment in other areas.

Recruitment and consent may be difficult to do at the time when someone has just been informed of a serious diagnosis. Increased awareness for GPs may give another opportunity to ask if a patient has been invited to join the project.

Perhaps to discuss this and increase awareness and patient recruitment, we should have the project on each of the EAG agendas.

Workshop Presentations

Genomic Medicine and Cancer – Dr Paul Brennan

100,000 Genomes Project – James Fisher & Louise Jones


The comments and reponses to the evaluation of this workshop are highlighted below.

A selection of the comments in relation to the workshop:

  • More interesting than I imagined
  • Good, slightly technical at one point, more time for discussion is required
  • clarification on some operational issue for sample recruitment was really helpful