Many SWAN UK members have asked if they would be eligible to take part in the 100,000 Genomes Project. This Project is sequencing whole genomes from NHS patients with rare disease who receive treatment in England. Separate projects are planned in Scotland, Northern Ireland and Wales, but this letter refers only to the project in England.
The sequencing will provide many participants with a diagnosis for the first time. However, not everyone who takes part will receive a diagnosis, and the main benefits are likely to be for other patients in the future.
This letter gives you an outline of who may be eligible to take part in the project, as well as contact details for more information. This advice is current for 2016 and early 2017.
Are we eligible for the 100,000 Genomes Project?
You may be eligible if:
You (or your child or family member) have a rare condition which is likely to have a genetic cause
You (or your child) does not have a molecular or genetic diagnosis for your condition. You may have been given a provisional diagnosis. A molecular diagnosis is based on a genetic test result rather than on signs or symptoms.
You have taken part in other genetic sequencing programmes, and you have received a result reporting that no genetic cause for your condition was found,
You have had some genetic testing in the past but this did not identify a cause of your / your child’s condition.
You are not eligible if:
You already have a genetic diagnosis for your condition from an existing NHS genetic test or a previous research project
You are in Deciphering Developmental Disorders (DDD) or other sequencing programmes and are currently waiting for a result
The project is recruiting families – patients, their relatives affected with the same disorder, and often their parents as well. Children are eligible to join the project without their parents, but it may take a bit longer to make a diagnosis if parents are not included. Biological relatives who live outside the UK may also take part.
How can I be referred?
NHS Genomic Medicine Centres have been set up across England. These are recruiting people to the Project. Each centre uses identical criteria to work out who is eligible for the project.
You can ask your hospital specialist (e.g. genetics doctor, paediatrician, neurologist) to refer you to your nearest centre. This won’t happen automatically. If you don’t have an appointment with your hospital doctor soon, you can contact them to arrange one.
If you have a query and think you might be eligible, please join our twitter chat on 31st August at 12:30pm-1.30pm at twitter.com/SWAN_UK (@SWAN_UK) or post your question in advance by commenting on this post or emailing [email protected] with ‘Twitter chat – 100,000 Genomes’ in the subject line by Friday 26 August. Please let us know if you want to remain anonymous. We will do our best to reply to all questions during the Twitter chat but cannot engage in lengthy conversations about personal circumstances.
Dr Ed Blair, Clinical Genetics Consultant, Oxford University Hospitals NHS Foundation Trust
Dr Trevor Cole, Consultant in Clinical and Cancer Genetics, Birmingham Women’s NHS Foundation Trust
On behalf of NHS Genomic Medicine Centres Rare Disease Leads