We are currently recruiting patients for the 100,000 Genomes Project. We will be focussing on patients with very specific, rare diseases such as skeletal dysplasias, inherited heart conditions and undiagnosed metabolic conditions. So far 1,000 people have been recruited to the project, through our clinical genetics service.
We are currently recruiting patients for the 100,000 Genomes Project. We will be focussing on patients with very specific, rare diseases such as skeletal dysplasias, inherited heart conditions and undiagnosed metabolic conditions.
The recruitment process
Our genetics service are recruiting selected families for the 100,000 Genomes Project. Before you or your family can be recruited, all available NHS genetic investigations will need to have been completed. The condition in your family will need to be one of those approved as a 'rare condition' suitable for genomic study. If you have an uninvestigated condition running in your family that may be genetic (hereditary), please first ask your own doctor to refer you to your regional genetics clinic – a list can be found at www.bsgm.org.uk.
Our cancer services started to recruit patients to the project in June 2016. Only certain types of cancers will be suitable for these genomic studies. Please discuss this with your specialist who will be able to provide further information, and also advise on how to access this opportunity.
For more information about the project, visit the Genomics England website.
Meet the expert: clinical genetics
Professor Frances Flinter, consultant in clinical genetics, explains our involvement in the 100,000 Genomes Project and how genetic diagnosis can benefit families.
Patient information leaflets
Leaflets to help patients decide whether to take part in the 100,000 Genomes Project.
Space satellite engineer Michael Loweth, 38, had never been given a precise diagnosis to explain why he stopped growing when he was 4ft 2in.
He is seeking the answer as part of the 100,000 Genomes Project.