With recruitment spanning 2013-2018, the 100,000 Genomes Project was a revolutionary study, designed to investigate the role that genetics play in health and disease by sequencing 100,000 genomes from over 85,000 individuals.2
The overarching goals were2:
• To enhance genomic healthcare research
• To make genomics a part of routine healthcare
• To uncover answers or even new diagnoses for the participants in the study
Despite recruitment being completed 5 years ago, the project produced such immense quantities of data that analysis is still ongoing today.
In 2021, a world-first pilot study was published in the NEJM,3 analysing data from some of the earlier participants in the project, including over 4,000 individuals from 2,000 families. The findings in this study were ground-breaking, leading to a new diagnosis for 25% of the participants, 14% of which had occurred in regions of the genome that would have been missed by other methods of genetic screening.
This study strongly demonstrates the value in WGS for the individual. As discussed in our previous blog, diagnosis for rare disease patients is often described as an odyssey, spanning many years and for many, never yielding any results.
The hope is that more widespread WGS could be implemented for patients in which a rare disease is suspected, along with speeding up the rate at which novel rare diseases can be identified.