Rare diseases are a worldwide healthcare challenge with approximately 10,000 disorders affecting 6% of the population in Western societies. The majority of rare disease patients remain without a molecular diagnosis following standard diagnostic testing.
To address this, the UK Government launched the 100,000 Genomes Project in 2013 to apply whole genome sequencing to rare disease, cancer and infection in national healthcare.
To assess the impact of the whole genome sequencing approach on the genetic diagnosis of rare disease a pilot study was carried out, the preliminary report of which has been published in The New England Journal of Medicine.
Journalists dialled in to this briefing to hear from some of the 100,000 Genomes Project Pilot Investigators as they discuss the study findings and address questions such as:
Prof Damian Smedley, Professor in Computational Genomics at Queen Mary
Prof Sir Mark Caulfield, Professor of Clinical Pharmacology at Queen Mary & former Chief Scientist at Genomics England
Dr Rich Scott, Chief Medical Officer, Genomics England
This Briefing was accompanied by an SMC Roundup of Comments.