The 100,000 Genomes Project - Jessica's story

Jessica is one of the first children to receive a diagnosis from the 100,000 Genomes Project. Her family talk about what it means to them, and how it will affect her treatment.

[lloydy]

An amazing story and I love the project but the reporters (and people running the project) overstated its novelty a bit. I'm a British Scientist currently working in a lab that does this sort of work in the USA and the team I work in has solved cases like Jessica's before. The big difference here is the scope. The project here is massive and will be very useful to genomics but it is not the first time sequencing has solved a case of unknown disease like this before. The reporter at the start seemed to suggest that this is the first time the human genome project has been useful to human health and this is simply untrue.