The 100,000 Genomes Project Reaches Its Goal

December 6, 2018

Rare Daily Staff

The 100,000 Genomes Project, led by Genomics England in partnership with NHS England, has reached its goal of sequencing 100,000 whole genomes from NHS patients, U.K. Health Secretary Matt Hancock announced.

“The sequencing of 100,000 whole genomes marks an extraordinary UK achievement that is transforming the application of genomics in our NHS,” said Mark Caulfield, chief scientist at Genomics England. “Genomics England will continue to analyze these genomes alongside life course clinical information to reveal answers for as many participants as possible and improve their NHS care.”

The program, launched by then-Prime Minister David Cameron in 2012, is seeking to harness whole genome sequencing technology to uncover new diagnoses and improved treatments for patients with rare inherited diseases and cancer. The effort was intended to make the United Kingdom a world leader within five years.

The 100,000 Genomes Project said it has delivered results for patients, with one in four participants with rare diseases receiving a diagnosis for the first time. It has also provided potential actionable findings in up to half of cancer patients where there is an opportunity to take part in a clinical trial or to receive a targeted therapy.

Genomics England has worked with NHS England to create 13 NHS Genomic Medicine centers to support the project, a state-of-the-art sequencing center run by Illumina and an automated analytics platform to return whole genome analyses to the NHS.

It said as a result of the program, the United Kingdom has become the first nation in the world to apply whole genome sequencing at scale in direct healthcare, as well as providing access to high quality de-identified clinical and genomic data for research aimed at improving patient outcomes.

The project has laid the foundations for the NHS Genomic Medicine Service, which will provide equitable access to genomic testing to patients across the NHS from 2019.

“The results, which will continue to be returned to patients, show how genomic medicine can transform lives, bringing quicker and better diagnoses and increasing the number of patients surviving cancer,” said Sue Hill, Chief Scientific Officer for England and Senior Responsible Officer for Genomics at NHS England. “The opportunity now is for the NHS to turn this research into reality by introducing sequencing technology as part of our world-leading NHS Genomic Medicine Service.”

December 6, 2018
Photo: Mark Caulfield, chief scientist at Genomics England


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