100,000 Genomes Project leads to first diagnoses

Three British men have been diagnosed with rare diseases after having their complete genomes sequenced as part of the 100,000 Genomes Project.

The announcement by Genomics England constitutes the first results from the project which aims to sequence 100,000 genomes from people with rare diseases and cancers by 2017.

The first patient, Leslie Hedley, aged 57, has a history of kidney failure due to high blood pressure and has had two kidney transplants. His father and brother died of the same condition, and his daughter is now showing early symptoms.

Using whole genome sequencing, researchers found that his condition is the result of a particular genetic variant, suggesting that this may also be the cause of his daughter's condition.

Hedley said: 'I was keen to take part in the project as I felt it was important to try and find out as much as possible about my condition for my daughter and granddaughter.

'Now that my daughter, Terri, has been given a diagnosis, it means that her condition can be monitored every year to see if there are any changes. Research has come on a long way and it is important that we do our bit to help as much as we can.'

The Carpenter brothers, William, 79, and Allan, 69, were diagnosed with inherited nerve damage, called peripheral neuropathy, which causes muscle loss and weakness. Genome sequencing showed their condition to be the result of a previously unidentified genetic mutation. With no cure available the men may be joining a clinical trial, which may help other family members who develop the condition.

Speaking to Popular Science, a Genomics England spokesperson said that, in the short term, the findings will primarily be a source of relief for the men: 'It's a case of reassurance - these men have been through standard health tests for a number of years, and it’s probably quite frustrating to not find out what’s wrong with you.'

Genomics England also announced this week that participants in the project will now be able to request information about their genetic predisposition to ten other 'serious but actionable' diseases, including familial hypercholesterolemia and some inherited cancers. The move is the result of feedback from previous and potential participants, requesting further personalised health information. The impact of these rare conditions could be reduced, says Genomics England, if prevented or treated early.