April 1, 2019 at 8:32 am #176686100,000 Genome Project
20 months ago now me and my parents gave blood samples to be tested as part of the 100,000 Genome Project. It’s been very widely accepted by the Neuromuscular team(s) which I’ve seen since around the age of 2 or 3 years old that I have a Metabolic Myopathy (MD?) but after 3 false diagnoses throughout the last 20 years, they’ve never been able to pin-point what the problem is. It’s just accepted that things have never been quite right!
However, almost 2 years ago now me and my parents joined a study called the 100,000 Genome Project runs by Genomics England along with around 85,000 other patients across the country and their families with rare genetic diseases etc. It’s hoped that these studies will not only help improve the future of diagnosis for patients but hopefully identify treatments and eventually cures for some of these conditions. But it’s also hoped that the study will help give people like me and many others that sit on the fence of ‘the unknown’ to maybe gain an ounce of clarity, or even a diagnosis into what the cause of our struggles might be. 20 months has past for me now since joining the project and I haven’t received anything back yet, but I’ve heard that its only in a few cases where the study is helping patients and clinicians in the present due to the complexity of the cutting edge technology and analysis of such huge volumes of genomic data.
I’m curious, is there anyone else out there on this forum which is part of this study? Have you heard anything back yet and what sorts of outcomes have you experienced? If like me, you’re still waiting for information to be fed back to you from the study via your Specialists, what’s your experience of the process? It would be great to hear how other people are doing. 85,000 people in a study sounds like a lot but I’m yet to meet another person that’s even heard of the 100,000 Genome Project which isn’t part of my own family.April 1, 2019 at 4:12 pm #176714Reply To: 100,000 Genome Project
Me and my family took part in this project. We are yet to hear about any outcomes. I submitted a request for an update and was told that the samples had been sequenced and genome date had arrived for analysis and interpretation. It went on to say that they couldn’t estimate how long each step might take or when results would be returned.
I was fortunate in that after we took part, my genetic mutation was confirmed by another route. I hope you don’t have to wait too long to get some confirmation.
A learning experience is one of those things that say, “You know that thing you just did? Don’t do that.” - Douglas Adamssar78ModeratorPosts: 2,246Joined: 05/03/2015April 1, 2019 at 4:52 pm #176715Reply To: 100,000 Genome Project
This is the thing with the 100,000 Genome Project. It’s just so complex and cutting edge that I suppose it’s hard for them to gauge a time frame. The initial time frame I was given was around 12 months but we’re at almost double that now in my case and from reading the information available on the Genomics England website, the current success figures whereby people receive some clarity or even a diagnoses from the initial data received back to the NHS has been quite low. On the bright side apparently they aim to give the NHS genomics results for all patients by at least July this year which is a positive in many ways But then the Specialists still have to analyse the data to see if any of it makes sense, but should mean everyone hears something this year at least – whether positive or negative.
Hopefully something comes of this extremely lengthy wait for all patients! I’m glad you received some news via a different pathway Sar78 and I wish you all the best! Hopefully having already identified the mutation in your genes, the 100,000 Genome test might be able to shed even more light with your Specialists having an idea what they’re looking for now.
Nice to hear other people’s stories!April 1, 2019 at 8:19 pm #176717Reply To: 100,000 Genome Project
Out the blue I received a letter from my neuro today to say that my genome data was back and gives a probable answer to my muscle problem. He wants to bring my appt forward from August to discuss it. I’m very surprised! I’ve been told in the past their best guess is a mild LGmD which will likely never be diagnosed.i had received a letter from genomics two week ago saying it was taking time to get results out to ppl (sounds like Same letter you got) so didn’t expect anything soon.hope you hear very soon! I’m left guessing what it all means now!April 12, 2019 at 8:55 am #177078Reply To: 100,000 Genome Project
I’m hoping things will start to come back soon. If Mars were always in it’s closest position to Earth, I could have travelled there and back to Earth again twice in the time I’ve been waiting for something to come back from this testApril 12, 2019 at 9:15 am #177079Reply To: 100,000 Genome Project
Ha! Something will come back soon, that much they indicate on the website. However, something like only 30% get any answers! So fingers crossed. It’s upsetting not knowing what we are dealing with, not being able to get life insurance because theirs no name…. not knowing what our kids are facing or carrying etc. But medicine is trying!April 12, 2019 at 10:28 am #177097Reply To: 100,000 Genome Project
We can only hope! I kind of prefer this as a non-invasive way of trying to get a diagnosis. In my case, 18 years of continuous biopsies and other sometimes painful; time consuming or exhausting tests and never receive a diagnosis (or anything truly significant) has got to be far worse than just waiting for a genetic blood result – even if that doesn’t prove or disprove anything on the first attempt either. Its swings and roundabouts I suppose. Doesn’t really matter what you do, it’s always going to be a lottery of whether you get a positive result back or not.
Talking about insurance, that’s a BIG reason why diagnosis is important! I’m going on holiday this year outside of Europe. I’ve declared on my Travel Insurance I have a metabolic myopathy but because I couldn’t specify a condition, my insurance for 2 weeks came back at over £300 But I tried it again but this time changed it as if I had a specific diagnosis and the insurance cost dropped to just below £90 for the same duration. I was shocked!!!
Finger’s crossed the 100,000 Genome Project results come back good for all of us – if not a diagnosis but at least point clinicians in a direction of being one step closer to diagnosis!
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