We have again been busy with Genomics England securing coverage for a ground-breaking study.
The pilot study of rare undiagnosed diseases involved analysing the genes of 4,660 people from 2,183 families – all of whom were early participants in the 100,000 Genomes Project. The world-leading Project, led by Genomics England and NHS England, was established in 2013 to sequence 100,000 whole genomes from NHS patients and their families.
By analysing all three billion letters of a person’s unique genetic code – using a technique called Whole Genome Sequencing – the study led to a new diagnosis for a quarter of the participants. In addition, 14% of these diagnoses would have been missed if conventional testing methods had been used.
Many of the study’s participants had gone through years and years of appointments, without getting any answers.
With a peer-reviewed paper due to be published in The New England Journal of Medicine (NEJM) we had the task of contacting – under embargo – health and science editors from across the media landscape.
Our hard work paid off. Coverage included an interview with Professor Sir Mark Caulfield and Jillian Hastings Ward on Radio 4’s highly prestigious Today program, an interview with Dr Richard Scott on the BBC World Service’s Science in Action program (the interview begins at 19:23), an interview with Dr Ellen Thomas on Times Radio and stories on the BBC website, in The Guardian, in The Times, in The FT, in the Daily Express, in the Daily Mirror and also a mention in the Metro. In addition several local newspapers across the country ran the Press Association story too.
Here’s a link to previous coverage we have achieved for Genomics England – watch this space for more of our genomic news stories soon…