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100,000 Genomes Project

100,000 Genomes Project

A British project that sequenced 100,000 genomes of National Health Service (NHS) patients with rare diseases, their families, and also patients with cancer.

The 100,000 Genomes Project started in 2013 in the United Kingdom and was initiated by Prime Minister David Cameron. Genomics England led the research with the states goals of creating an ethical and transparent program based on consent, to set up a genomic medical service for NHS patients, to enable medical discoveries, and to initiate the development of the genomics industry in the United Kingdom.


Every participant in the project had at least one genome sequenced. Those with cancer had three genomes sequenced, with two taken from the tumor and one taken from blood. Participants had access to 11 Genomic Medical Centers where they could go to participate in the project. The centers were also used to identify and recruit participants. The project developed mechanisms for validating the results and gave feedback to the participants regarding their rare diseases. In 2016, the first diagnoses of children were returned. As of 2018, the project has reached its goal of sequencing 100,000 genomes and the NHS has utilized the insights from the project to create and launch the Genomic Medicine Service.


Further Resources


“Not pathogenic until proven otherwise”: perspectives of UK clinical genomics professionals toward secondary findings in context of a Genomic Medicine Multidisciplinary Team and the 100,000 Genomes Project

Elizabeth Ormondroyd

About the 100,000 Genomes Project

July 20, 2016

Genomics and Personalised Medicine - NHS Alliance

The UK’s 100,000 Genomes Project: manifesting policymakers’ expectations

Gabrielle Natalie Samuel and Bobbie Farsides


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