Thanks to hundreds of dedicated healthcare professionals across the East of England facilitating the recruitment and participation of more than 10,000 volunteers, our region was key to the success of the national 100,000 Genome Project.
In late 2018, the project announced that it had sequenced its 100,000th genome.
No further volunteers are required for the project, but your cooperation and care are critical to the delivery of project results to patients.
What happens next?
The East of England NHS Genomic Medicine Centre is now facilitating the return of genomic test results to project participants who have not yet received any feedback. Genomics England estimates that:
- One in four participants with a rare disease may receive a diagnosis for the first time, thanks to their test results.
- Almost half of participants with cancer may receive information that could open up possibilities for clinical trials or targeted therapies going forward.
Waiting for results can be challenging for participants and their families. Advice for them is provided on our Participants page.
Guide to talking to patients about their results
For some clinicians, the 100,000 Genome Project may be your first encounter with a genomic test report. For others, a refresher of key considerations may be useful.
A two-page guide has been developed by NHS Health Education Genomics Education Programme, the 100,000 Genomes Project participant panel, and select NHS health professionals, to support you in returning genomic report findings to patients with a suspected rare disease:
The guide takes you step-by-step through aspects of a report to consider, based on whether there is a confirmed genetic diagnosis, an uncertain result, or a negative result. The guide also includes advice from patients on how to best deliver the feedback.
Please note that only primary results are covered in the guide — those that relate to the clinical context of the participant. The guide does not cover additional looked-for findings, which will be returned by Genomics England at a later date.
Additional support regarding report results
For additional support in delivering 100,000 Genomes Project results to patients, please contact:
- Your local Clinical Genetics Team. See our Care pages, or
- Regional Education and Training Lead, Gemma Chandratillake at firstname.lastname@example.org
Healthcare professionals and participants seeking advice on genomic test results not yet received, can email email@example.com or call 01223 254292. Please note that results can take many months to be returned to participants.
Your library of East Genomics 100,000 Genome Project resources
- Phenotypes explained and forms with EPIC codes
- Eligibility statements
- 100,000 Genome Project approved conditions
- 100,000 Genome Project approved list of cancers
- Patient Information Sheet for parents of a child with a rare disease (Cambridge)
- Patient Information Sheet for a child aged 6 to 10 years (Cambridge)
- Patient Information Sheet for a young person 11 to 15 years (Cambridge)
- Patient Information Sheet for an adult with a rare disease (Cambridge)
- Consent form for a child patient with a rare disease – for parent to sign (Cambridge)