Month: July 2016

Genomics England Selects Inuvika as a Technology Partner for the 100,000 Genomes Project

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Genomics England has selected Inuvika as a technology partner to deliver the secure virtual desktop environment for the 100,000 Genomes Project.

Genomics England selected Inuvika’s Open Virtual Desktop Enterprise (OVD) to deliver secure access to the research environment for the 100,000 Genomes Project.  Consisting of a Windows virtual desktop, datacentre hosted applications and associated de-identified datasets, OVD publishes the users’ environment so it can be securely accessed from a standard HTML5 enabled web browser from any location.

“We selected Inuvika’s Open Virtual Desktop for its ability to support the Windows and Linux app requirements of our research environment while being able to ‘airlock’ the project data securely within our datacentres.” said David Brown, Head of Informatics Infrastructure. “With no need to install client software on a user’s local device and no requirement for firewall intervention on remote client sites it makes secure access for researchers, clinicians, academia and data providers very simple.”

“We are pleased to be working with Genomics England and the 100,000 Genomes Project to deliver the access platform for the participating organisations” said Kevin Gallagher, CEO of Inuvika. “OVD met the ease-of-use and data security requirements. Additionally, our open source service based approach enables us to be flexible and deliver on the specific needs of such an innovative and transformational project.”

Visit Inuvika’s site for more information.

The 100,000 Genomes Project features in London’s Science Museum

The Science Museum’s Our Lives in Data exhibition highlights the technology revolution that will impact our lives.

Gallery view of Our Lives in Data - an exhibition exploring how big data is transforming the world around us; uncovering some of the diverse ways our data is being collected, analysed and used.

Gallery view of Our Lives in Data. Photo courtesy of Science Museum London.

 

More information about our lives is being captured than ever before, and as the amount of data collected grows so does the debate around data ownership.

The Science Museum’s newest exhibition, Our Lives in Data, will uncover some of the diverse ways our data is being collected, analysed and used.

A person’s full DNA sequence – their genome – generates around 200GB of data. In the 100,000 Genomes Project, sequencing the genome of a person with cancer or someone with a rare disease will help scientists and doctors understand how disease works.

Genomics has already started to deliver diagnoses to families who have been through years of inconclusive tests and unexplained symptoms. And Jessica’s story, which features in the Our Lives in Data exhibition, is just one example of how we can harness the power of genomic data to make a real difference in patient care.

Illumina’s HiSeq X instrument will also be on display as an example of how sequencing technology is playing a crucial part in delivering the 100,000 Genomes Project and enabling new medical insights.

The Science Museum’s exhibition is now open at: Science Museum, Exhibition Rd, London SW7 2DD. Admission is free.

 

Reaction to the Caldicott Review

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In September 2015, the Secretary of State for Health asked Dame Fiona Caldicott, the National Data Guardian to work with the Care Quality Commission (CQC) and carry out an intensive review into data sharing in health and social care. The review, published this week, recommends:

  • New data security standards.
  • A method for testing compliance against these standards.
  • A new consent or opt-out model for data sharing in relation to patient confidential data.

Genomics England welcomes the publication of the National Data Guardian’s review. The review highlights the enormous value of data sharing – it is essential for high quality health and care services. Sharing personal data also enables medical research. Personal health information allows researchers to understand diseases, and opens up avenues for the development of new treatments.

The review also highlights how people must have trust that their information is being protected and used appropriately and ethically. The report recommends that the new data security standards, together with the new consent model now undergo a full public consultation.

Genomics England uses an explicit consent model for the 100,000 Genomes Project. Participants are made aware of, and agree, that their de-identified data will be used by healthcare researchers, including those in for-profit companies. Our model is covered in the report as one example. Read more about ethics and consent in the Project.

Commenting on Dame Fiona’s review, Sir John Chisholm, Executive Chair of Genomics England said:

“We welcome the publication of the National Data Guardian’s (NDG) review and Dame Fiona Caldicott’s recommendations.  The digital revolution is underway in healthcare and the potential benefits of sharing our health data are enormous.  Research using new technologies can greatly improve our understanding of health and disease, unlocking new treatments that could benefit each and every one of us in the future.

“However, we must be able to have absolute confidence in the way our data is looked after by the bodies responsible for it.  Measures to increase understanding of how data is used along with the choice to opt out of data sharing, should an individual wish to do so, will help to ensure people are able to have an informed view and a say in how their data is used in future.”

Read the report here.

10,000 Whole Genome Sequences

We have now passed the 10,000 milestone, an important achievement for one of the largest DNA sequencing projects in the world.

With this month’s tally of 11,221 whole genomes sequenced, the NHS Genomic Medicine Centres across England are continuing to recruit rare disease and cancer patients to the 100,000 Genomes Project. Biotech company Illumina are undertaking the genome sequencing and Genomics England, together with clinical interpretation partners are interpreting those sequences to return results to patients and clinicians.

In rare disease, whole genome sequencing has already made a real difference – and is starting to deliver diagnoses to families who have been through years of inconclusive tests and unexplained symptoms.

Professor Mark Caulfield, Chief Scientist at Genomics England, said

I’d like to thank all staff in NHS Genomic Medicine Centres for their incredible hard work over the past year. 10,000 genome sequences is an important milestone. We know there are challenges ahead, but the work you are doing now will ensure that there is a genomic medicine service in the NHS, for any patient who might need it in the future.

The 100,000 Genomes Project is focused on rare diseases and common cancers. This is because these are genetic disorders, there is unmet need and sequencing will bring benefits for many patients. But the systems we are building will be in place for an NHS genomic medicine service for anyone who might benefit.

As we have reported in previous updates, there are challenges we are currently working on. In cancer we’re working with scientists and clinicians to overcome the complex scientific challenge of getting enough tumour DNA of the right quality to sequence within a standard NHS setting.

Changing pathology services is a key part of this work. This complex challenge has involved hundreds of scientific experiments to find the best way forward. A range of solutions are being trialled at the moment. We expect to see the full results later in the year. In the meantime, while we optimise the pathways, cancer patients are still being recruited to the Project and their genomes analysed.

There is still much work ahead, but the protocols, standards and data infrastructure that are being developed will ensure frontline clinicians can make the most of the knowledge that genomics provides, for patients now and in the future.