100,000 Genome Project

Hi Everyone,

Just wondered whether anyone who has been part of the 100,000 Genome Project to get a diagnosis or potential treatment has had any results back yet? And if so, what sorts of information has been fed back to you? Has it been successful for you? What’s your experience?

I joined the 100,000 Genome Project in August 2017. At the end of August this year I received information from Genomics England to say that they’d completed initial screening of my genomes and the data has been past across to the NHS Genomics teams and my specialists for further analysis. Beyond this, I’ve heard literally no information. Just wondering whether there are any other 100,000 Genome patients which have heard anything or are in a similar position to me? I understand from Genomics England that only a small percentage of people/families do get any positive feedback from the 1st analysis. I’ve basically gone over 2 years (27 months) and have only ever had 1 or 2 meaningful updates and the one update was because I requested it, but I’ve received no sign that they’re close to being able to give me any actual news on what their findings are (or if they have found anything at all?).