Welcome to our latest newsletter!

The North East & North Cumbria NHS Genomic Medicine Centre (NENC GMC) covers the whole region serving a population of 3.1 million people. The GMC is based in the Northern Genetics Service at the International Centre for Life; the hosting organisation is The Newcastle upon Tyne Hospitals NHS Foundation Trust. The project has been operational since May 2015, our processes are now well established and we are receiving regular and more frequent referrals. The team have now begun work with other organisations to roll out the 100,000 Genomes Project throughout the region.

The NHS organisations we are currently working with include;

Our Stakeholders include:

Merry Christmas!

Newsletter The 100,000 Genomes Project Newsletter

Quarter 3, 2016 Email: tnu-tr.GMC@nhs.net Telephone: 0191 241 8604

News & Developments

This is the total number of whole genomes sequenced as of 5th December 2016 against the national target of 100,000. This figure is updated every month. Thank you to everyone who has helped to achieve this figure!

NENC GMC figures (Q3 2016)

Rare Disease Q3 2016 (Jul-Sept) We recruited 173 participants (Monthly average of 58)

Cancer Q3 2016 (Jul-Sept) We recruited 5 participants (Monthly average of 1.6)

The North East & North Cumbria GMC is now on Twitter!

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Time is running out, apply now! The Master’s Degree in Genomic Medicine is a flexible course which follows a syllabus specified by Health Education England (HEE). Full funding is available for eligible NHS staff to study full or part time towards the Master’s, Postgraduate Diploma or Postgraduate Certificate courses. In addition to the full qualifications, staff can choose to study Individual CPPD Modules or even apply for funding to attend the taught sessions and lectures of particular modules on a non-assessed basis without the requirement to complete self-directed study or submit the associated module assessments. Please note: Funding for this initiative is due to end in 2018 so to guarantee financial assistance for the two year part time Master’s course, staff must apply to begin their studies in the January 2017 intake.

For more information please visit: Newcastle University MSc in Genomic Medicine or view Newcastle University MSc promotional video

New! Genomics Research and Innovation Fellowship Scheme

The Health Education England (HEE) & Genomics Education Programme (GEP) Genomics Research Fellowship Scheme is a new scheme designed to support the 100,000 Genome Project and workforce transformation associated with mainstreaming genomics into the NHS. In partnership with Genomics England and NHS England, the Genomics Education Programme is funding a number of Research Secondments and Academic Fellowships across the NHS and the wider genomics community working in partnership with appropriate Genomics England Clinical Interpretation Partnerships (GECIPs). For more information please visit; Genomics Research Fellowship Scheme

Could you help to shape future Genomic Education for NHS staff Staff from a whole range of different backgrounds – not just medical and nursing – need to know something about this new and exciting era of Whole Genome Sequencing in health care. As part of the GEP, HEE are seeking to determine the current degree of understanding and knowledge in the field of genetic and genomic medicine amongst the current workforce.

To this end, HEE have created an online survey and are requesting staff across all NHS facilities to complete it and submit their results to the national body in charge of the 100,000 Genomes Project, Genomics England. Please use this link to view and complete the survey: www.bit.ly/nencgmc-TNA The survey contains 15 questions and should take no longer than 10 minutes to complete; thank you in advance!

Consent training for the 100,000 Genomes Project Are you or anyone in your team interested in training to consent for the 100,000 Genomes project? Consent training involves completing an on-line training module (90 minutes) followed by a half day face to face session with one of our practitioners.

We will be arranging a series of workshops in the New Year at various locations throughout the region. Please email Hayley.lucas@nuth.nhs.uk for more information or to register your interest.

Whole Genome Sequence Results

We are approaching a very exciting time here in the North East and North Cumbria as we are starting to receive sequencing results from the pilot and main phase of the project.

When the NENC GMC first started recruiting participants to the Project in spring 2015, Genomics England predicted that it would take at least six months for the first sequence reports to be fed back to participants. Potential participants are now being advised that their report will be returned approximately 12 months after having given consent and samples. It is hoped that as the project develops the time taken to provide results will reduce significantly to a few weeks rather than months. Please advise any potential participants of the timescale for results and direct them to the Genomics England website for further information: Information for participants.

Phenotyping

It is very important you complete the Phenotypic Data for each patient you have referred. Once the patient has been recruited onto the project you should receive an automatically generated email (see example);

The North East and North Cumbria’s clinicians who have referred patients into the 100,000 Genomes project are doing well in terms of submitting phenotypic data. We were one of the best regions in England in November when we exceeded NHS England’s newly created target of 50%. Sequencing reports for rare disease patients can only be issued for patients when the phenotypic data has been completed by the patient’s referring clinician, so a big thank you to all our referring clinicians for continuing to submit phenotypic data for the patients that you have referred for whole genome sequencing. If any clinicians have any outstanding phenotypic data to complete for patients and would like some help then please feel free to contact the project team and we will be happy to assist you.

Dear Dr ------

Thank you for referring Joe Blogs to take part in the 100,000 Genomes Project. We have successfully recruited this patient and the Project Team have registered their details onto the OpenClinica system. You now need you to log-in to OpenClinica and provide the disorder PHENOTYPING data for this participant.

Participant Name: Joe Bloggs Participant ID: 00000 Date of Birth: 01/01/0101 GC File Number: 00000 NENC GMC Family: 000-RTD NHS Number: 000 000 000 Hospital Number: 0000000

The phenotyping information must be provided within 14 days of recruitment. Please make this a priority within the next few days. Delays in providing this information may result in the participant being excluded from the project If you do not currently have an OpenClinica username/password these details will be sent to you in a separate email. Please do not hesitate to get in touch if you need any further assistance on 0191 241 8603 / 8604.

Thank you for your cooperation in this project The 100,000 Genomes Team

New Eligibility Criteria Wheels

Developed in collaboration with University Hospitals Leicester, the 100,000 Genomes Project Eligibility Wheels are a series of easy reference tools to identify patients/participants eligible to take part in the 100,000 Genomes Project. Aimed at NHS staff recruiting patients within GMCs or local delivery partners, the wheels have been developed in-line with the most recent changes to the Project’s eligibility criteria (July 2016). Please view and print the wheels here: https://www.genomicseducation.hee.nhs.uk/taught-courses/eligibility-wheels-library/

Any Questions?

If you have any concerns, comments or queries about any aspect of the 100,000 Genomes Project please do not hesitate to contact the team, we are always keen to keep in touch with our colleagues.

The team would like to thank you all for working with us in 2016 to deliver Whole Genome Sequencing to NHS patients in the North East & North Cumbria region. We look forward to working with you and

delivering results to patients in 2017.

Wishing you all a very happy Christmas and a peaceful new year!

The NENC GMC Project Team

Telephone: 0191 241 8604 | 0191 241 8849 Email: tnu.tr.gmc@nhs.net

Website: http://bit.ly/nencgmc

@NENCGMC #genomes100k