100,000 Genomes Project Hits its Mark

December 6, 2018
100,000 Genomes Project Hits its Mark
Source: Stanislaw Pytel/Getty Images

On Wednesday afternoon, U.K. Health Secretary Matt Hancock announced that Genomics England had reached its goal of sequencing 100,000 whole genomes within 100,000 Genomes Project

The program, conducted in partnership with the National Health Service (NHS) in England was launched ins 2012 by then-Prime Minister David Cameron. Its goal was simple, if not also cheekily ambitious: to use the data collected from whole-genome sequencing to uncover new diagnoses and improved treatments for patients with rare inherited diseases and cancer—and complete the work in five years.

“At launch, the 100,000 Genomes Project was a bold ambition to corral the U.K.’s renowned skills in genomic science and combine them with the strengths of a truly national health service in order to propel the UK into a global leadership position in population genomics,” said Sir John Chisholm, chair of Genomics England. “With this announcement, that ambition has been achieved. The results of this will be felt for many generations to come as the benefits of genomic medicine in the U.K. unfold.”

In that time, the Project has delivered actionable clinical results to a broad number of paricipants in the pilot study. As many as one-quarter of the patients with a rare disease who participated have received a diagnosis for the first time, while many others have significantly shortened the so-called “diagnostic odyssey” people with rare disease often undergo, from four-and-a-half years, to as few as two years.

“We look forward to seeing more results in the near future—for the rest of the project participants, and for the wider public who will soon benefit from genomic medicine in the NHS,” noted Jillian Hastings Ward, chair of the National 100,000 Genomes Project Participant Panel, whose 4-year-old son was diagnosed via the Project. “We will also keep working with Genomics England to make sure they keep patients’ interests at the heart of all they do.”

The project has laid the foundations for a NHS Genomic Medicine Service—officially announced in October and currently being rolled out country-wide—which will provide equitable access to genomic testing to patients across the NHS from 2019.

“Understanding the human code on such a scale is part of our mission to provide truly personalized care to help patients live longer, healthier and happier lives,” noted Hancock. “I’m incredibly excited about the potential of this type of technology to unlock the next generation of treatments, diagnose diseases earlier, save lives and enable patients to take greater control of their own health.”