100,000 Genomes Project North East and North Cumbria GMC An Introduction Mike Pratt (Genomic Education Development Officer) Susan Goldstein (100,000 Genomes.

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Presentation transcript:

100,000 Genomes Project North East and North Cumbria GMC An Introduction Mike Pratt (Genomic Education Development Officer) Susan Goldstein (100,000 Genomes Project Manager) Hayley Lucas (Genomic Training Coordinator)

The Project Today we’re here to tell you a bit about: The 100,000 Genomes Project What are the aims of the Project? Who can Participate? What it could mean for participants? What lies ahead? How can you get involved? Introducing Genomics in Healthcare Video

Aims of the Project Genomics England is a company set up and owned by the Department of Health tasked with carrying out the 100,000 Genomes Project Professor Sue Hill (Chief Scientific Officer NHS England) The specific aims of the Project are four-fold: to increase the discovery of pathogenic variants leading to new treatments, devices and diagnostics to accelerate uptake with advanced genomic medicine practice integrated into the NHS to increase public understanding and support for genomic medicine and, alongside these … to stimulate and advance the UK life sciences industry and commercial activity in genomics.

What’s so special? The Project will sequence 100,000 genomes from around 70,000 people. Sequence data for each participant will include their whole genome. Commercial companies are involved and will fund additional research. Whole Genome Sequencing (WGS) will be a very important diagnostic tool within the NHS in the future and 100,000 Genomes is a Transformation project aiming to change how NHS patients are treated. The Project will leave behind an infrastructure in place to handle DNA samples and clinical data required for whole genome sequencing. The Project is also involved in the training of healthcare staff in new skills and changing NHS practices to maximise our ability to use this technology. This is currently the largest national sequencing project of its kind in the world!

Who can participate? Participation is open to patients with a rare disease or form of cancer covered by scope of the Project (clinicians can nominate new diseases for inclusion in this list). Suitable patients are usually identified by their clinicians and referred to 100,000 Genomes Project staff to be invited in to learn more about participating. After the Project has been explained in more detail and they have had as much time as they need to consider their involvement, participants will be asked to: – Read and complete a consent form. – Donate blood samples (up to 3 tablespoons of blood); occasionally other samples such as saliva may also be requested. – Donate a piece of their tumour (for cancer patients) collected during their normal cancer care. – Give their personal details, contact details and health information to the Project.

What could it mean for Participants? After a participant’s genome is sequenced, the results will be sent to their clinical team who will check them and discuss them with the participant. In time, findings will be returned within a couple of weeks as the technology and our understanding of the results develops. At first this will take longer, so participants may not receive some or all of the findings for many months. The results may provide information that helps guide a participant’s treatment, but alternatively it is also possible that there will be no information to report. If something is found which could be important for the health of other members of the participant’s family, their clinical team will advise them about what information would be helpful to pass on, and will support them in doing this.

Future Developments As the Project progresses, it is believed that results will be returned in weeks rather than months (in the US, the first emergency 36 hour genome sequence has already been delivered). New rare diseases are being added regularly to the eligibility list of the Project which will increase the number of patients who may benefit from new research into their illness. Through the GEP, Health Education England will develop the NHS workforce including providing access to funded places on a Masters Degree in Genomic Newcastle University. – Staff can also choose to study individual modules from the course as part of their CPPD. It is hoped that new medicines, treatments and diagnostic tools will be developed as a direct result of this project. It is a bold ambition, with benefits for all!

How can you get involved? Do you have a patient with a rare disease on the eligible list and do they meet the eligibility criteria for that disease? (Link below) If so, please one of our clinical genomic practitioners with the following: Patient details (Name, DOB & NHS Number) Family Structure (Are there other family members affected? Can we recruit the patient and unaffected parents?) The name of the rare disease the patient falls under (this will be taken as confirmation that the patient satisfies the eligibility criteria). This will act as your referral and confirmation that the patient meets all of the eligibility criteria. We will then contact the patient to see if they would like to participate in project.

Thank You Any Questions?