First patients recruited to ground-breaking genome project

Posted on 3 June 2015 (Permalink)

The ground-breaking 100,000 Genomes Project - a collaborative programme underpinned by the WMAHSN - has recruited its first patients in the West Midlands.

The Queen Elizabeth Hospital Birmingham has taken blood samples from three patients after they consented to genomic testing. Their complete set of genes – their genome – will now be decoded to help scientists and doctors better understand diseases that will ultimately lead to the design of personalised treatments.

The first patient recruited was Professor Adam Tickell, aged 50, who has an inherited form of heart muscle disease called hypertrophic cardiomyopathy (HCM), which is characterised by thickening of the heart’s pumping chambers. The disease is caused by a change or mutation in one or more genes and is passed on through families. Each child of someone with HCM has a 50% chance of inheriting the condition.

In its first phase, the Genomes Project is recruiting rare disease patients, of which HCM is classed. About 1 in 500 of the UK population has the condition, although most people who have it have few symptoms.

While Adam knew he had the disease, he has never had molecular confirmation of his diagnosis, which means he was eligible to take part in the project. He said: “I am keen to take part in the project because I can see its potential in benefiting generations to come.

“I discovered that I had hypertrophic cardiomyopathy last summer. Although some of the causes of HCM are known, the genetic mutation that has caused my disease is unknown and so I am keen to take part in the project because I can see its potential in benefiting generations to come. If the 100,000 Genomes Project can identify new causes of HCM, it will not only benefit my family but it will help clinicians and researchers understand and prevent this heart disease in the future.  My diagnosis has allowed me to make some straightforward lifestyle changes which have significantly reduced the risk of complications of HCM.  The project should allow researchers to develop tests which can allow others in future to make similar changes if necessary.”

Adam is Provost and Vice-Principal of the University of Birmingham, which was one of the partners involved in the development of West Midlands Genomes Project and whose honorary consultants working at the trust are directly involved in delivering it.

His consultant cardiologist, Dr William Bradlow, said: “At present there is no cure for HCM, but treatments are available to help control the symptoms and prevent complications.

“Treatments for individuals will depend on how their heart is affected and what symptoms they have. If we can learn more about an individual’s condition, we are better placed to be able to personalise the care we give, which means a better outcome for the patient.”

The Genomics Medicine Centre West Midlands (WM GMC) – which is led by University Hospitals Birmingham NHS Foundation Trust – is one of 11 centres across the country. The national project involves collecting and decoding 100,000 human genomes that will enable scientists and doctors to understand more about specific conditions.

The WM GMC will deliver around 18,000 of the total number of genomes, drawing on its unique population demographic through a collaboration of 18 healthcare organisations. Initially, the WM GMC is looking at patients with rare diseases where current genetic testing has been inconclusive. The next phase will investigate specific cancer groups: initially breast, ovarian, colon, prostate, lung and haematological.

University Hospitals Birmingham NHS Foundation Trust is working with the University of Birmingham as its academic partner, with the collaboration  underpinned by the WMAHSN. 

The other regional trusts in the consortium are Birmingham Children’s Hospital NHS Foundation Trust, Birmingham Women’s Hospital NHS Foundation Trust, Heart of England NHS Foundation Trust, Sandwell and West Birmingham Hospitals NHS Trust, University Hospitals Coventry and Warwickshire NHS Trust, University Hospitals of North Midlands NHS Trust, The Royal Wolverhampton NHS Trust, George Eliot Hospital NHS Trust, South Warwickshire NHS Foundation Trust, Worcestershire Acute Hospitals NHS Trust, Wye Valley NHS Trust, Dudley Group NHS Foundation Trust, Royal Orthopaedic Hospital NHS Foundation Trust, Shrewsbury and Telford Hospitals NHS Trust, Robert Jones and Agnes Hunt Orthopaedic Hospital NHS Foundation Trust, Burton Hospitals NHS Foundation Trust and Walsall Healthcare NHS Trust.