100,000 genome project

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The 100,000 genome project is a national project that works to sequence the genomes of 100,000 patients with rare diseases and familial cancers in the NHS. These patients must fit certain eligibility criteria in order to be able to take part in the project. The purpose of the project is to improve treatments for people with cancers and rare diseases by selecting the best treatements; aid diagnosis for people with certain rare diseases and to create a genomic economy[1].

For cancer patients genome sequencing can vastly improve their treatment and prognosis. Scientists will sequence the genome of a healthy cell and of a cancer cell from a patient, allowing the identification of mutations in the DNA that may have lead to the development of the cancer. Understanding the cause of the cancer can allow clinicians to select the best treatment plan for the patient and also can give some indication of how the cancer may progress. Genome sequencing is also important for people with rare diseases, as a lot of the time such diseases are undiagnosed and the cause of the disease is unknown. Therefore, understanding the cause of a rare disease on a genetic level can help to diagnose a person and also treat them. As part of the 100,000 genomes project, family members of a patient with a rare disease will also have their genome sequenced due to the fact that such diseases are often inherited [2]


  1. Gabrielle Natalie Samuel and Bobbie Farsides. The UK’s 100,000 Genomes Project: manifesting policymakers’ expectations. New Genet Soc. 2017; 36(4): 336–353.
  2. Genomics England.About Genomics England.Date published unknown.[cited 4/12/18]; Available from: https://www.genomicsengland.co.uk/about-genomics-england/
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