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Definition

A project, first announced by the UK government in 2012, to sequence 100,000 genomes from around 85,000 people in England with either rare disease or cancer. The project is run by a publicly-owned company, Genomics England.

Use in clinical context

The 100,000 Genomes Project, which began recruiting participants in early 2015, analysed individuals’ genomic information to inform the diagnosis and treatment of rare diseases and cancers. The sequencing of participants’ genomes was completed in 2018, with some participants’ results following in 2019. To date (mid 2019), around 20-25% of rare disease participants received a diagnosis for the first time and about half of cancer participants were found to be eligible for targeted treatment or to join a clinical trial.

To read about the education and training that we have developed to support the 100,000 Genomes Project, view our page.

Last updated on 13th September, 2019