Month: July 2018

Consent and participation in the 100,000 Genomes Project – public attitudes

A new public dialogue on attitudes to sharing personal data as part of research has used the 100,000 Genomes Project as an example of best practice in obtaining consent.

The way that Genomics England obtained consent from participants in the 100,000 Genomes Project was praised by the public focus groups who took part in the project, run by the Health Research Authority (HRA) and Human Tissue Authority (HTA), who are now considering how best to use Genomics England’s approach as an example of good practice for future work and guidance for researchers on gaining consent.

The HRA and HTA commissioned Ipsos Mori’s Public Dialogue Centre to better understand more about the public’s awareness of the importance of donated tissue being linked to patient health data, and to learn what reassurances the public may need in order to provide their consent.

As part of the public dialogue, participants in a series of focus groups were invited to hear more about the 100,000 Genomes Project. Whilst participants had a limited understanding of the science behind the project, they were positive about the work once they’d seen a video – one of a number commissioned by Genomics England as part of the consent process for potential participants – explaining the technology and its benefits.

The focus group participants found that the wording was simple and positively constructed, and it was felt this would help potential participants in the 100,000 Genomes Project to digest the information, and have a reasonable understanding of what consent would involve. Participants liked the fact the form listed different types of health data which can be accessed, and they also liked the discrete sections.

The HRA/HTA report also details a number of constructive comments from focus group participants on how the consent process could be made clearer and more useful, which will be used to further improve the consent model.

Professor Mark Caulfield, Genomics England’s Chief Scientist, said:

“Our entire project is founded on informed consent from our participants who agree to take part. We have been careful from the outset to ensure that our consent process is comprehensive and rigorous, and includes leaflets and videos that describe what their data will be used for and by whom. We’re pleased with this feedback, and the opportunity this report provides to reflect and further improve our consent model as genomic medicine becomes more embedded in routine NHS care. We look forward to contributing further to this ongoing piece of work with the HRA and the HTA.”

The HRA / HTA public dialogue was supported by Sciencewise and The Department for Business, Energy, and Industrial Strategy (BEIS). The final report can be viewed on the HRA website.

Director of Communications for Genomics England, Katrina Nevin-Ridley said

“This report is a detailed look at public views on the various different ways in which informed consent can be gained for research. It is a welcome addition to our ‘Genomics Conversation’ which helps us to understand how, and in what circumstances the public are happy to provide their health data for research. As part of the conversation, Genomics England is carrying out further public dialogue that will help inform the development of a national genomic medicine service.”

Genomics England has also published a report on the views of black African and black Caribbean communities on participation in the 100,000 Genomes Project. Other activities planned include a series of regional ‘future debates‘ on whole genome sequencing with the British Science Association, events in partnership with the Progress Educational Trust, and a survey of people with rare and genetic conditions in collaboration with Genetic Alliance UK.

As the NHS celebrates 70 years Genomics England sequences its 70,000th genome

As the NHS celebrates its 70th birthday, Genomics England announces that it has now passed the 70,000 genomes mark. This milestone comes just five months after the 100,000 Genomes Project reached its halfway point – signalling that it is well on track to reach its goal of 100,000 genomes by the end of this year.

Genomics England has worked with the NHS to create the biggest national genome sequencing project of its kind in the world. It has provided the evidence NHS England needs to embed genome sequencing in routine care through the new Genomic Medicine Service (GMS). Rolling out in October 2018, the GMS will help to ensure that the NHS stays at the forefront of healthcare delivery – now and in the future.

The groundbreaking 100,000 Genomes Project focuses on patients with rare diseases, their families, and patients with cancer. Working with sequencing partner, Illumina, Genomics England has now sequenced a total of 71,095 genomes.

Beyond 2018, Genomics England will continue to support the NHS GMS, acting as a testbed for new applications, encouraging discoveries and their translation into novel medicines and treatments, as well as working to support a thriving genomic medicine industry in the UK.

Health Minister Lord O’Shaughnessy said: “Genetic sequencing can revolutionise healthcare by offering truly personalised care to patients and their families.

“This project is a shining example of a partnership between the public sector, the life sciences industry and the research community – with NHS patients reaping the benefits.

“Genomic medicine is no longer a thing of the future, it’s here now and helping to save lives.”

Professor John Mattick

Genomics England’s CEO, Professor John Mattick, said: “Genomics England’s mission is to realise the enormous potential of genomic information to enable precision medicine.  As the technology and our understanding continue to grow over the coming years, we will provide genome analyses to inform personalised treatments and preventative actions tailored to individual circumstances, to ensure the best healthcare for our patients and generations to come.”

Professor Dame Sue Hill, Chief Scientific Officer for England, who is leading the NHS Genomics programme, said: “I’m delighted the Project has reached the 70,000 sequence mark in the week of the 70th Birthday of the National Health Service. The NHS has harnessed cutting-edge science and technology through the Project to deliver real benefits for patients with rare diseases and cancer and in the growing field of genomics and health we are, once more, building a world-leading service that is admired and respected across the globe.

“Reaching the 70,000 mark has been possible because of the contribution and support of all the patients and families involved and driven by the tremendous work done by the dedicated teams across the NHS in our Genomic Medicine Centres in providing the highest quality samples and data as part of routine care.”

Professor Mark Caulfield, Chief Scientist at Genomics England, said: “Genomics England was set up five years ago during the 65th celebrations of the NHS. The 100,000 Genomes Project is ground-breaking and on the 70th anniversary of the NHS it is amazing that we have now sequenced over 70,000 genomes from participants with rare disease and cancer – and we are grateful to everyone who has generously taken part in the Project. It has already changed the lives of many patients with cancer or a rare disease in the UK, and now this programme will expand to further transform genomic health in the NHS with improved outcomes for many more.”