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Cancer in the 100,000 Genomes Project

Our work has helped to inform other clinical and research studies in the NHS and around the world, driving up the quality of cancer DNA samples for testing in the NHS and improving cancer testing overall.

Close up microscope image of pink cells

Improving cancer care in the NHS

One of the main aims of the 100,000 Genomes Project was to improve cancer care for NHS patients through personalised medicine.

This page covers the way the project met this aim.

Diagnosing and analysing cancer

Cancer can be described as a genomic disease, caused by changes to DNA. The changes cause cells to divide and grow uncontrollably.

Cancer is usually diagnosed by bringing together the results of different tests:

  1. results of scans
  2. physical checks
  3. pathological assessments (looking at the tumour down the microscope)

A pathologist looks at the size, shape and features of the cancer cells to grade their severity. Most cancers have three grades of severity. Pathologists also give a stage to the tumour. Sometimes, genetic testing of the tumour is also done.

We know that patients with the same diagnosis and same grade may fare differently. Some will respond well to treatment, others won’t.

That's where whole genome sequencing comes in.

Diving deeper into cancer analysis

Our efforts in the 100,000 Genomes Project have helped improve analysis of cancer for better patient treatment

An additional benefit

Improving cancer research

Aside from whole genome sequencing translating to better patient care, the de-identified DNA and health data from the 100,000 Genomes Project is also being used for scientific research.

Approved researchers – as part of our Genomics England Clinical Interpretation Partnerships (GECIP) – are continually using this incredible resource to discover the causes of cancer, as well as develop new ways to diagnose and treat it.

GECIP cancer research

Each research group (called a domain) has its own aims, including:

  • Studying the genetic changes that can lead to cancer by comparing germline (normal) and somatic (tumour) genomes for each patient.
  • Looking at health data over a patient’s care to see how they reacted to treatment to identify genetic signatures that might influence how a tumour reacts to different treatments.
  • Studying short fragments of DNA that are released into the bloodstream by dying tumour cells to possibly find a less-invasive means for tumour diagnosis, prognosis, and monitoring.

Results for cancer participants

As of December 2021, all 'main findings' analyses have been completed at Genomics England and returned to your NHS healthcare team. These should now have been returned to the individual. If you haven't received your results, you can enquire with your regional Genomic Medicine Service Alliance.

Use the button below to learn more about getting your results.

Participants also may have opted in for additional findings. Participants are still able to opt in or out from receiving additional findings.

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