Four types of cardiomyopathy being investigated in 100,000 Genomes Project

23rd September 2016

Genomics England has announced more than 200 diseases, including four types of cardiomyopathy, that are being investigated as part of the 100,000 Genomes Project.

Dilated, hypertrophic, arrhythmogenic right ventricular, and left ventricular noncompaction cardiomyopathy are listed among 190 “rare”diseases included in the project as well as a raft of cancers.

The project, announced by the government in 2012, is designed to map all the genes of around 70,000 patients and their family members to learn more about the gene mutations that cause these diseases and encourage research into new treatments.

Patients are usually invited to take part by their hospital doctor, but people in England who think they may be eligible can ask their doctor to refer them to their nearest NHS Genomic Medicine Centre. Alternatively they can contact their nearest centre themselves. Patients in Scotland, Wales or Northern Ireland are due to be included in the project soon.

Patients may have been given a provisional diagnosis but not yet had a decisive result from a genetic test.  Two of their close relatives are also asked to take part. This will help doctors analyse the genome and find disease-causing gene mutations. Relatives cannot volunteer for the project themselves.

Genomics England said: “Some people taking part in this project will get a diagnosis for their disease for the first time, but many will not. For some patients, a particular treatment may be suggested based on their results. In most cases this won’t happen.  The main benefits are likely to be for other patients in the future.”

New diseases can also be nominated to be included in the list.

Genomic England added: “We ask that patients, members of the public, lay members of patient groups and charities work with scientists or clinicians expert in the relevant disease to nominate a condition to include in the 100,000 Genomes Project.

“If you think that your condition should be included, first contact a relevant clinician or scientist. You could ask your hospital doctor. The disease nomination form must be completed by a clinician at an NHS Genomic Medicine Centre, or a researcher in one of our partnerships. The Genomics England Science Team would be very happy to work with you and the relevant experts to develop the application.”