Genomics England outlines progress and addresses questions

Philippa Brice

26 November 2013

The first official briefing (newsletter) from Genomics England (GeL) has set out progress and questions about the UK 100,000 Genomes Project.

GeL held what it termed a ‘town hall’ engagement event in London last month, with public and stakeholder sessions. The latter was attended by PHG Foundation Director Dr Hilary Burton and Chairman Dr Ron Zimmern; and both sessions were watched live via somewhat sporadic videolink by interested Foundation staff.

A summary of questions posed at the event and directly to GeL has been provided and highlights a number of specific themes. Public queries related largely to how they might get involved, especially because they or a family member was affected by a rare disease; it was clarified that recruitment would only be via clinical genetics services involved in the 100,000 Genomes Project pilots for rare diseases or cancer.

Access to data was another major area of interest; GeL confirmed that patients would be able to access their own data if desired and would receive feedback on their genome sequencing and analysis via their clinicians. It also said it would expect to have the first data-build to be available for researchers by the end of 2014, and that researchers from different sectors (academic and commercial) and disciplines would be able to access it, provided they complied with GeL requirements.

It was also emphasised that the project, whilst providing a valuable resource for ongoing research, was very much a programme to develop clinical practice in the NHS and not a research project in itself. This theme was reiterated in a blog post by Mark Palin outlining the key differences between the 100,000 Genomes Project and the recently launched PGP-UK, Personal Genomes Project UK; these were said to be:

  1. The specific health focus and NHS patient base of GeL.
  2. Personal clinician-mediated consent procedures as opposed to an (extensive) online consent procedure for PGP-UK.
  3. Linkage of genome sequence and patient’s clinical NHS records, as opposed to participant reported health information in the PGP-UK.
  4. Restricted access to the GeL database maintained behind the NHS firewall, contrasted with open access to the PGP-UK database.
  5. Personal clinician-mediated feedback to participants and a specific policy on feedback about variants of unknown medical significance, rather than electronic return of all feedback directly to PGP-UK participants.

With the ambitious target of 100,000 genomes to sequence by 2017 (and insufficient funding to do it at current prices), Genomics England cannot afford to hang about, nor have they done so – news has come thick and fast in recent months and they have made a good start in setting up pilot projects for rare disease and cancer genome sequencing. They have also confirmed new appointments; as well as Mark Palin (outreach and communications lead), Prof Jim Davies (Chief Technology Officer) and Prof Mike Parker (ethics lead) have officially joined the company.

Alongside the pilots and construction of a suitably robust database with linkage to NHS records, GeL has a great deal of planning to do. Issues requiring careful consideration include (but are by no means limited to) findings of uncertain clinical significance highlighted by Mark Palin; development of general consent and feedback procedures, and policies on incidental (unexpected) findings. These issues are being explored at some length by the PHG Foundation Realising Genomics project, in conjunction with expert stakeholders. 

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