Sample Handling Guidance

GMCs should use this form for cohorts including more 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 do 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 is not needed. This notification was sent via the missive, Weekly Update Letter #104 issued on 20 January 2017.

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

• 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.

• 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)

After permission to go live, you will be requested to provide sample details (Participant ID and number of associated samples) for any submission of multiple samples in a single consignment to enable us to provide enhanced monitoring.

If you have already received your approval to go live with multiple samples, you can request approval for specific multiple samples using the form in the tab below.

To request approval for specific multiple samples, please submit the following information: