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About the 100,000 Genomes Project
The 100,000 Genomes Project is well underway with the aim of sequencing 100,000 genomes from about 70,000 people by the end of 2017. Rare immune disorders are among those being targeted for inclusion so we have a fantastic opportunity to access this new technology for our patients.
Aims of the project
Improving care for patients: Some patients with rare disease may get a diagnosis for the first time or discover what treatment might work best. Genomic medicine will mean personalised treatment for patients.
For future generations: By looking at all the 100,000 Genomes Project data, scientists will gain new insights and understanding about the causes of disease and find better ways of helping patients, especially those who have conditions that are currently hard to treat.
To kickstart a UK genomics industry: Participants generously agree that researchers from industry such as pharmaceutical companies can look at their data. This is the best and quickest way to ensure that understanding from the project is turned into new medicines and diagnostics for patients. It will also help establish new jobs and companies in this important field in the UK.
How is it structured?
The project is a partnership between patients and their clinicians in the NHS; Genomic Medicine Centres, which are clinical genetic hubs; the central structures of Genomics England; and industrial providers of whole genome sequencing and other technologies.
Who is eligible?
Eligibility criteria for the project are deliberately wide and the main one for us is suspected primary immunodeficiency diagnosed by a consultant immunologist, particularly if severe or unusual and either familial or in the context of consanguinity. Appropriate available diagnostic tests should have ruled out mutations in relevant known genes (i.e. genes for which UKGTN testing is available and which could individually be expected to account for >10% of this phenotype). Sporadic CVID in adults is currently not a focus and should be directed to other projects such as BRIDGE-PID.
How do I recruit a family?
Discuss with the named immunology lead for your GMC (see table below) – this could happen in the context of an MDT or by email. Then contact your Genomic Medicine Centre – these are the 13 hubs responsible for interfacing with patients and clinicians and based at large clinical genetic centres across England. (We understand that participation of the devolved nations has now been agreed, operational details to follow) You can see GMC locations in the map below. Contact details for each GMC are provided in the table and as clickable links on the following webpage: https://www.genomicsengland.co.uk/taking-part/genomic-medicine-centres/. The GMC will take forward the process of recruitment and your Trust will receive a fee for every individual recruited. You may be asked to help gather clinical information but this is not onerous.
What information will my patients and I receive back?
You will get an electronic, written diagnostic report from your GMC detailing known or predicted pathogenic mutations in genes relevant to the patient’s phenotype and validated by dideoxy sequencing. The timescale for such reporting is expected to shorten from months to weeks during the lifetime of the project. If no known causative variants are found then you will be notified that the case will be passed to researchers and invited to contribute.
How can I find out more?
Check out the Genomics England website: http://www.genomicsengland.co.uk/
Find resources and consider taking part in the Genomics Education Programme: www.genomicseducation.hee.nhs.uk
Contact your GMC immunology lead or the GeCIP Immune Disorders Lead for UKPIN, Sophie Hambleton ([email protected])