Submit 20+ stored samples, or samples outside normal criteria


GMCs should use this form for cohorts comprised of greater than 20 samples only or pre 2015 samples.

Genomics England and NHS England will give permission on a case by case basis for inclusion in the main programme.

Where GMCs have recruited a single participant and had difficulty collecting a sample but they hold a stored sample, pre or post 2015, it is acceptable to follow the guidance in the Sample Handling Guidance section 6.0.2 and this stored cohort form doesn’t need to be used. This has previously been notified via the missive, Weekly Update Letter #104 issued on 20 January 2017.

Individuals/organisations with stored sample cohorts, or research cohorts, they believe may be currently eligible (in cancer or rare diseases) or potentially appropriate for addition to the programme are encouraged to discuss this with their local NHS GMC.

Sample Information

Rationale for inclusion

About the Samples

GMC information

By sumbitting this form you are confirming that other than detailed above, these stored samples meet all other criteria outlined below.

Stored Samples Criteria for Inclusion

  1. Stored samples should not exceed 10% of contracted volumes for cancer or rare disease.
  1. Participants must:
  • meet eligibility criteria outlined in Annex A or Annex B,
  • meet other requirements outlined in the contract, in particular around the provision of clinical and other data,
  • have appropriate consent for inclusion in the 100,000 Genomes Project
  • have the potential to benefit or, when recruiting to relevant eligible diseases where the proband may be deceased/foetal sample, family members must have the potential to benefit (e.g. through informing reproductive choices). Foetal samples may only be included if there is an extremely strong likelihood of a heritable monogenic syndrome.


  1. Samples must:
  • have been collected after 1 January 2015 (or specific approval obtained for samples collected prior to this date)
  • have been processed in line with NHS GMC contractual requirements for sample handling and have passed the relevant QC requirements.
  • for Tumour samples, the DNA should be extracted from fresh frozen tissue
  • be indicated on the weekly return of samples collected to NHS England and recorded as a stored sample (initially through notification to the Genomics England helpdesk and as the relevant data models are updated via standard submission of data)


  1. Omics samples are currently optional but encouraged.
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