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100,000 Genomes Project

The 100,000 Genomes Project aims to sequence 100,000 genomes from around 75,000 people. Participants are NHS patients with a rare disease and their families, and cancer patients who have been referred to a Genomic Medicine Centre by their clinicians.

The numbers add up like this:

  • 50,000 genomes from cancer patients – two per patient, therefore 25,000 patients
  • 50,000 from rare disease – three per patient (affected person plus two blood relatives) – therefore roughly 17,000 patients, 33,000 others
  • In all, just over 40,000 patients, and about 75,000 people involved in total.

With the consent of these patients, their genomes will be sequenced and linked to details about each patient’s medical condition. This project is currently the largest of its kind in the world.

Video courtesy of Genomics England

Cancer patients will be asked to donate two samples for comparison – one from healthy cells taken from blood, and the other from their cancerous tissue. The project covers many cancers including haematological, breast, bowel, ovarian, prostate, lung and renal cancer and sarcoma.

Patients suffering from a rare disease and their families will be requested to give a blood sample.

The main aim of the project is to create a new genomic medicine service for the NHS. The samples will allow for investigation of the causes, diagnosis and treatment of cancers and rare diseases, potentially providing new diagnoses where none would have been available before.

The data generated will also allow researchers to study how best to use genomics as part of everyday healthcare, and how best to interpret the available data to provide better care. The project is also expected to kickstart a UK-based genomics industry – participants will allow for their data to be shared in a controlled environment with scientists and researchers from both academia and industry, ensuring that the insights generated are turned into new medicines and diagnostics for patients as quickly as possible.

Some patients have already benefited either because a better treatment is identified for them, or their condition is diagnosed for the first time.