Genetic Alliance UK have conducted a survey, in association with Genomics England, aimed at patients with a rare or undiagnosed condition and their carers.
Participants’ experiences of the 100,000 Genomes Project
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.
Participants’ views on the provision of Whole Genome Sequencing (WGS) through the NHS
5. The most commonly hoped-for benefits of WGS through the NHS were: improvement of the individual’s care or treatment, contributing to research into their condition, and obtaining a diagnosis.
6. Knowledge of how different organisations use health data collected during NHS care is limited amongst patients and carers. Although they are willing for healthcare professionals and researchers in the NHS to have access, around a quarter of respondents ‘might decline’ WGS because of concerns about wider access to data.
7. Patients and carers recognise the value of using data generated from WGS for research purposes – and the vast majority support it. However they also feel it is important that there is choice about whether their data is used in this way.
8. Patients and carers overwhelmingly believe that, if different organisations will have access to their WGS data for research, this should be with the expectation that there will be a clear public benefit. Respondents identified data misuse and data security as potential risks.
We aim to understand patients’ and carers’ views about whole genome sequencing and its introduction as part of routine NHS care.
Whole genome sequencing (WGS) is a technology which looks at all of the genetic code in a cell in the hope of uncovering new understanding about the causes and best treatments for diseases. WGS promises to help increase understanding of rare inherited diseases and cancer in order to improve care and diagnosis. Earlier this year NHS England and Genomics England announced the launch of a national Genomic Medicine Service. This will see the introduction of WGS as part of routine care for patients with certain rare conditions, undiagnosed conditions, and cancer. This is following on from their previous work, the 100,000 Genomes Project, a research project that aimed to sequence 100,000 whole genomes of patients affected with certain rare and undiagnosed conditions, and also cancers, which is due to close this year.
Genomics England has commissioned Genetic Alliance UK to seek the views of patients and carers around the introduction of WGS into the NHS. They would also like to hear about people’s experiences of taking part in the 100,000 Genomes Project. This information will be used by Genomics England to inform the launch of mainstream WGS, as part of the new Genomic Medicine Service.
The survey is now closed, and we are processing the results.
Vivienne Parry, head of engagement at Genomics England, said of the report:
“This survey has provided us with really valuable information on participants’ views of taking part in the 100,000 Genomes Project which will help us in our future work.
We know how important results are to our participants which is why returning them as quickly as possible was one of our top priorities at the 100,000 Genomes Project. However, doing this turned out to be technically one of the most difficult challenges we faced as it had never been done before at such scale. At the time of this survey, we hadn’t yet got our groundbreaking bioinformatics pipeline fully up and running. It’s now cut the results wait time for many participants.
We have lots more to do and we’re learning how to do it better all the time. But without the patience and support of the participants in the project, we wouldn’t have been able to achieve any of this. We hope that they are as proud as we are that the UK is the first country in the world to adopt genomic medicine into routine healthcare.”
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