Participant Experiences of the 100,000 Genomes Project
18 July 2019
Participant Experiences of the 100,000 Genomes Project
As a member of Genetic Alliance, Nerve Tumours UK welcomes their latest research and survey results
Genomics England commissioned Genetic Alliance UK to seek the views of patients and carers around the introduction of Whole Genome Sequencing into the NHS. They also wanted to hear about people’s experiences of taking part in the 100,000 Genomes Project ( A project that sequenced 100,000 genomes from around 85,000 people. Participants were NHS patients with a rare disease, plus their families, and patients with cancer).
Here are some of the key findings:
1. The majority of our respondents were glad they had taken part in the 100,000 Genomes Project:
(73%), would take part again (86%), and would be likely to participate in future medical and genomic research.
2. However, fewer than half (43%) of our respondents said they were ‘satisfied’ or ‘very satisfied’ with their overall experience of taking part in the 100,000 Genomes Project. Respondents indicated that the benefits they hoped for from taking part were not matched by actual benefits achieved at the time of the survey.
3. Most respondents (77%) had yet to receive a result at the time of our survey, which offers a likely explanation for the discrepancy between findings 1 and 2.
4. Over 80% of patients and carers felt they had been provided with sufficient, comprehensible information about the 100,000 Genomes Project before taking part. However they would have liked more information about what to expect during the process, and more regular contact while waiting for a result.
If you would like to find out about the full results of the study you can do so by clicking on the link below:
Filter News

Runderpants fun run
Get your Runderpants here! Set up a fun run wearing some special fundraising pants
Read More
Meet Sarah, our new Specialist NF Nurse
Sarah will be based in Leeds, supporting families across Yorkshire and Humberside
Read More
Meet Charmaine, Our New Specialist NF Nurse
Read More
Olivia’s NF1 story
Olivia and mam Kelly share their NF1 story, highlighting school achievements and support from NTUK Specialist Nurses
Read More
Eashan’s NF1 story
'Why Run'... Eashan was diagnosed with NF1 after losing his eyesight when he was 5. His mother Jen tells his story.
Read More
2023 Awareness Campaign
Nerve Tumours UK have joined forces with RBH to raise awareness for a second successive year.
Read More
Disclosing and explaining visible differences - CAR Workshop
Read more about the workshop, featuring additional guidance from Specialist NF Nurse Rebecca Rennison
Read More
Jo Ward’s Avastin Blog
Jo Ward, CEO of NF2 BioSolutions UK, shares a blog about her son Oscar's Avastin journey
Read More
Nigel’s story - Normal is as normal does
Nigel lived a normal life until age 47. The next 20 years took him from NF1 to NF2 to Schwannomatosis to mosaic NF2
Read More