Samples in the 100,000 Genomes Project

Participants donate blood, saliva and tumour samples, depending on which part of the Project they are in.

For rare disease patients and their families For cancer patients with solid tumours For patients with blood cancer

Blood or saliva / spit if blood can’t be taken

Blood or saliva / spit if blood can’t be taken


small piece of tumour

Saliva / spit



Samples are taken by healthcare professionals at the NHS Genomic Medicine Centres. About 20ml, or 4 teaspoons, of blood is taken. Cancer patients donate a small piece of their tumour.

What happens to the samples?

Sample tubesThe samples are first processed at the NHS Genomic Medicine Centre clinic. From about 5ml of the blood or saliva sample, DNA is extracted. DNA is also extracted from a cancer patient’s tumour sample.

The rest of the sample is processed and split into small amounts. Processing includes separating different elements of blood from each other, such as red blood cells, white blood cells, plasma and serum. The different processes allow the sample to be used in different ways later on. The small amounts of sample are stored in different types of tube, which also enables them be used later. Tubes are labelled with a barcode, not with the name or other identifiable details of the person the sample was taken from.

The samples are then sent to the biorepository. The biorepository is a national clinical storage and processing centre, the UK biocentre, in Milton Keynes.


96 format external thread jacket tubes racked 1 tube out

Plate for DNA

The UK biocentre checks the quality of the DNA samples. They then transfer part of the sample into plates ready for DNA sequencing. The plates are sent to our sequencing partner Illumina in Cambridge, UK. Part of the sample is kept at the biorepository and stored for future research. Find out more about how DNA is sequenced. Find out more about how the sequences are used rare disease genomics and cancer genomics sections.

The samples in the plates are used for sequencing. Any DNA left in the plate after the sequencing is destroyed by Illumina.

A digital data file, called a BAM file, of the DNA sequence is then transferred to our secure datacentre. Each person’s DNA sequence, their genome, takes up 20MB of storage which is about the memory of an average laptop. See more about how data in the project is handled.

Other samples from blood, saliva and tumour

Samples taken from blood, saliva and tumours are frozen and stored at the UK biocentre for future research. The samples that are not being used for DNA are termed “–omic” or “multi-omic” samples. These samples are taken because they could provide useful information for researchers in the future. At the moment samples are stored for the potential study of

  • RNA. This is similar to DNA and can tell researchers which genes may be active in a cell or tissue.
  • Proteomics. This is the study of proteins. Proteins circulating in the blood could tell us about an individual’s disease.
    • Biomarkers are biological signs, or indicators of disease. Biomarkers are often proteins.
  • Metabolomics. Metabolomics is the study of the processes in a cell or tissue – it can give information about how a cell is functioning.
  • ctDNA. Cell-free circulating tumour DNA. This is tumour DNA found outside cells, in the blood. It might be used to help with diagnosis or understanding a tumour.

Other tests might be done on these samples in future. Future advances in technology and our understanding of disease mean that we don’t yet know what the samples could be used for.

Who can use the stored samples, and what for?

The “multi–omics” samples are stored for future research projects. These will be projects that aim to advance diagnoses or treatment of disease. Because these samples are not at the core of the 100,000 Genomes Project, they are not yet being used for research.

Our partnership with expert researchers and clinicians, GeCIP, is setting up ways to work on these samples. See more about research using –omics in our research section.

Use of the samples will be in line with the 100,000 Genomes Project protocol, which is approved by a research ethics committee and will be subject to legal approvals. In line with this approval, researchers could be commercial as well as clinical and academic. The decision about which researchers can use the samples will be taken by the Genomics England Science Advisory Committee. Advice will be given to the Committee by groups of expert researchers who have experience in each individual sample type. Researchers using the samples will be bound by rules set by the Science Advisory Committee to make sure that the samples are used appropriately.

More information will be published here as ways of using the samples are developed.

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