First patients diagnosed through the 100,000 Genomes Project

The first family are set to benefit from ground-breaking developments in whole genome sequencing. Health Secretary Jeremy Hunt (pictured visiting Newcastle University’s Biomedical Wing) will today (Wednesday 11 March) meet the first patients to be diagnosed with rare disease through the 100,000 Genomes Project. They will now receive effective, personalised treatment, as well as helping prevent future generations who share their DNA from suffering a life of uncertainty about similar symptoms.

Newcastle University and Hospitals worked with Genomics England to analyse the genomes and validate the findings as part of the project’s pilot scheme.

Leslie Hedley, 57, has a life-long history of high blood pressure, causing kidney failure. His first kidney transplant failed and he has received a second transplant. His father, brother and uncle all died of the same condition and his daughter Terri Parker, 34 has early signs of kidney damage. There was a concern that her daughter could also be affected.

Professor Patrick Chinnery, Director of the Institute of Genetic Medicine at Newcastle University said:

“Patients of Newcastle Hospitals are the first to receive a diagnosis through whole genome sequencing by Genomics England, leading to changes in the treatment the NHS can offer their families. Knowing the genetic cause will allow the NHS to give the best treatment possible to these families.”

Whole genome sequencing revealed Mr Hedley’s kidney failure was caused by a particular genetic variant. His family is also being tested and their blood pressure can now be effectively controlled by drugs available on the NHS.

Mr 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.”

His daughter, Terri Parker said:

“The 100,000 Genomes Project is hugely important in gaining as much insight into rare diseases as possible. I wanted to be part of the project for the benefit of my daughter, Katie, and it was such a relief when we found out that she did not have the same rare kidney disease as myself and other family members.

“I am glad that I’ve been part of the scheme and that I was given the opportunity to contribute, as it is a step towards finding out more about rare diseases and developing personalised treatments.”

Genomics England’s Chief Scientist Professor Mark Caulfield said:

“The 100,000 Genome Project are delighted to be returning our first diagnoses to families with rare disease from our whole genome sequencing. More will follow over the coming months.”