10,000th patient for pioneering cardiac genetic testing service | University of Oxford
Churchill Hospital, Oxford
Churchill Hospital, Oxford

Image credit: Steve Daniels [CC BY-SA 2.0 (http://creativecommons.org/licenses/by-sa/2.0)], via Wikimedia Commons

10,000th patient for pioneering cardiac genetic testing service

The largest NHS-based centre to identify genetic causes of heart disease has welcomed its 10,000th patient. Founded by Oxford University and NHS staff, the Oxford Medical Genetics Laboratory at the Churchill Hospital began its cardiac genetic testing service in 2003 and was the first accredited NHS diagnostic genetic testing service for inherited cardiac conditions (ICC) in the UK.

The service was developed in partnership with Professor Hugh Watkins from the University of Oxford and the Oxford ICC clinical team and today is a national and international service that has been at the forefront of developing and implementing faster, cheaper, more reliable and efficient genetic tests for the benefit of NHS patients in the UK.

There are no cures... at present, but there are effective drug treatments and lifestyle changes which can significantly reduce the chance of a life-threatening event.

Professor Hugh Watkins, Radcliffe Department of Medicine

The laboratory service has identified thousands of patients at risk of developing an inherited heart condition, such as cardiomyopathy and arrhythmia. This genetic information is essential to allow the correct support and treatment to be tailored to the patient.

The Director of the laboratory, Dr Anneke Seller, said: 'Our NHS laboratory staff are proud to be working at the forefront of clinical science to provide state-of-the-art genetic diagnosis to inform the management of patients and their families with these conditions.'

In cardiomyopathy, the walls of the heart chambers have become stretched, thickened or stiff while arrhythmia results in heart rhythm problems.

The laboratory looks for 'spelling mistakes' in genes that tell the body how to make heart muscle or the wiring in the heart that controls the heartbeat. These could lead to cardiomyopathy or arrhythmia. Besides aiding diagnosis of these conditions, the service has accelerated research. Thanks to the huge amount of genetic data gathered by the service, researchers can zero in on the biological mechanisms that lead to disease, to help improve clinical care in future.

State-of-the-art technology

Laboratory scientists use state-of-the-art technology to examine over 70 genes that have been shown to cause inherited heart disease, using just a small sample of blood. When a spelling mistake, or gene change, has been identified a series of computational methods are used to determine the likelihood that it is a cause of the patient's heart condition.    

We are not always able to identify the genetic cause of a condition in every family, but when we do, it can help us to know how to care for relatives of the affected person. The tests can also allow us to direct potentially life-saving treatments, like implantable defibrillators, to the most appropriate patients.

Professor Hugh Watkins, Radcliffe Department of Medicine

Patients who come to the service with a clinical diagnosis are offered genetic testing, medical care and advice on whether their relatives should be offered testing as well.

For patients who have been referred because of a family history of an inherited heart condition, they first have their family history recorded by a genetic counselling team. If a genetic cause has been identified in their family they are asked if they wish to have genetic testing, with the impact of a diagnosis on their lives discussed in detail.

Those who have the test and are diagnosed with a gene change that causes a heart condition are assessed by the cardiology team. Those found not to have inherited the gene change are discharged without the need for heart tests in them or their children.

Where a gene change was found in the family the familial genetic variant was detected in 49% of relatives tested and was not detected in the remaining 51%.

In families where a genetic cause has not been found, family members are offered an appointment to have their heart checked to spot possible early and mild signs of the conditions.

400 new families each year

The clinical service, part of Oxford University Hospitals NHS Foundation Trust, with staff working across both the University and the hospital, sees about 400 new people each year and follows up about 800 each year. About two-thirds of the 400 families are referred for genetic testing.

Among the families the service has helped are relatives of Jason Laman, who died, aged 42, after collapsing while playing rugby for Wheatley RFC in 2013. 

A genetic test of tissue found Jason carried a gene change which causes a type of dilated cardiomyopathy, which also increases the chances of a dangerous heart rhythm.

Seven members of Jason’s family were tested and the condition was found in his father Clive, 72, while the causative gene was found in Jason's son Aaron, 23, one of his three children.

Clive Laman said: 'My concern was the grandchildren. I was getting on a little bit so if there was going to be anybody that was going to suffer I was hoping it was going to be me.

'The staff have been wonderful. What they are doing for myself and Aaron is unbelievable.'

He has had a pacemaker and implantable defibrillator fitted and takes medication for the condition. Aaron undergoes regular checks so he can be offered treatment if symptoms develop.

Genetic cause

Oxford University's Professor Hugh Watkins, who founded the service, said: 'We are not always able to identify the genetic cause of a condition in every family, but when we do, it can help us to know how to care for relatives of the affected person.

'If we find a causative gene change, relatives can have genetic testing to find out whether they too carry the gene change or not. If they do not carry the gene change, we can be confident that they are not likely to develop the inherited heart condition running in their family.

'If they do carry the gene change, we know that we need to keep them under our care in order to spot the early signs of the condition, and act swiftly.

'There are no cures for these conditions at present, but there are effective drug treatments and lifestyle changes which can significantly reduce the chance of a life-threatening event.

'The tests can also allow us to direct potentially life-saving treatments, like implantable defibrillators, to the most appropriate patients.'

The ICC service was founded in 1996 by Prof Watkins, current Radcliffe Professor of Medicine at the University of Oxford, and Dr Edward Blair, Consultant Clinical Geneticist in the Oxford NHS Clinical Genetics Service.

It worked with The Oxford Medical Genetics Laboratory, led by Dr Anneke Seller, to develop a way of genetically testing patients, leading to the launch of the NHS service in 2003.

Genetic testing is increasingly being used throughout the NHS and the Trust is conducting further tests on some cancer and rare diseases patients through the 100,000 Genomes Project. 

It is hoped that participation of ICC patients in this ground-breaking project will uncover even more genes implicated in cardiac conditions, as the service continues to provide day-to-day patient care and vital information for researchers.