Documents and Information – Cancer

This document sets out the protocol for the development, delivery, and operation of the 100,000 Genomes Project. It also details the patient and clinical benefits, the scientific and transformational objectives, the implementation strategy, as well as the ethical and governance frameworks required for the Project: The 100,000 Genomes Project Protocol

Guidance documents

Essential Cancer Data Guidance v1.0 (PDF)
Additional cancer data and sample submission guidance v3.0 (.doc)
Fast track and clinically urgent cases sample handling guidance (PDF)
Validation and reporting guidance for DPYD variants v1.0 (PDF)


Cryospray and Cancer Biopsy posters (PDF – 2 posters)
Sampling Small Tumours poster (PDF)


When should consent be taken for participants with cancer?

The following organisations have agreed a consensus statement which clearly establishes that genomic analysis, including whole genome sequencing, has a diagnostic role: The Royal College of Pathologists, Human Tissue Authority, Health Research Authority, NHS England, Genomics England and the Clinical Directors at the NHS Genomic Medicine Centres.

This means that the tumour tissue samples (fresh frozen or paraffin embedded) and the blood samples for germline DNA are considered diagnostic samples. These samples can be used for any genomic or molecular analysis to enable a full diagnostic assessment of that tumour. Therefore, patients having biopsies for suspected cancer need not be approached for consent until a cancer diagnosis has been secured and adequate material is known to be available.

Where a patient was not consented prior to a cancer resection procedure they can be consented post-operatively.

⇒ Consent documents and information for Healthcare Professionals |  Consent page for participants

Cancer Tissue Samples

⇒ Sample handling guidance main page

Implications of the Consensus Statement:

  1. Laboratories that do not have a research HTA licence can still store tissue for the diagnostic arm of the 100,000 Genomes Project.
  2. Samples can be handled in a genomic-friendly way by not putting them into formalin as part of the diagnostic pathway and without specific consent required to do this.
  3. Consent for participation in the 100,000 Genomes Project can be taken after tissue has been sampled.

Download the HTA consensus statement