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The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare

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:

  • What is the case for using genome sequencing in the diagnosis of certain specific rare diseases in the NHS?
  • What could receiving a genetic diagnosis mean for patients?
  • What case studies did we see from the pilot?
  • What would the panel like to see happen next in rare disease diagnostics?


Speakers included:

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.


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