Helpline 07939 046 030

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

Filter by Date
Category
Reset

Neurofibromatosis 1 in the 21st Century

Professor Rosalie Ferner delivers key speech “Neurofibromatosis 1 in the 21st Century” to the BPNA 2022 Annual Conference

Read More

The International Rare Disease Showcase 1st – 3rd February 2022

The International Showcase is a unique & important event, with interactive sessions taking place from 1st-3rd February 2022

Read More

Grace’s NF1 story - Nothing stops me

Grace tells us how her NF1 hasn't stopped her from being active and achieving her goals

Read More

Mia’s NF1 story

Bridie & Warren describe their 17 month old daughter Mia's diagnosis with NF1

Read More

Richard & Diana’s 1,000,000 metre new rowing challenge

Diana & Richard have taken on a 1,000,000 metre rowing challenge in 100 days to raise funds & awareness

Read More

A Message from our Charity Director

A message from Karen, our Charity Director, on looking forward to a special 2022

Read More

Childhood Neurological Conditions Survey Part 2

Find out how you can help shape the future of treatment for Childhood Neurological Conditions such as Neurofibromatosis

Read More

Study - Resilient Youth with NF

Adolescents with NF (12-17 years old) are wanted for an Online Harvard research project

Read More

Owen’s Ball 2021

The Owen Family held their annual black tie fundraiser for NTUK

Read More