The Largest Cardiac Genetic Testing Center Crosses A Milestone

The Oxford Medical Genetics Laboratory at the Churchill Hospital began its cardiac genetic testing service way back in 2003, and since then has become the largest National Health Service NHS-based center to identify genetic causes of heart disease. It has gone on to welcome its 10,000th patient today, 23rd September. It was the first accredited NHS diagnostic genetic testing service for inherited cardiac conditions (ICC) in the United Kingdom.

This remarkable facility was developed as a joint collaboration between Professor Hugh Watkins from the University of Oxford and the Oxford ICC clinical team, and is leading the charge for delivering cutting edge genetic tests for the benefit of NHS patients in the UK. Their specialty is that all of their tests aim to develop and deliver faster, cheaper, more reliable and efficient genetic tests.

The laboratory service managed to identify thousands of patients at risk developing an inherited heart condition, such as cardiomyopathy and arrhythmia. Using genetic tests to identify genetic diseases is essential to predict correct diagnosis and recovery methods, tailored to specific patients, hence genetic tests can be classified as a vital part of precision medicine.

Dr Anneke Seller, the laboratory director, 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.”

Atrial fibrillation is the leading cause of death with reported cases around five million deaths worldwide. It is rapidly progressing and is present in both developing and developed countries and is linked with all-cause mortality and stroke, higher medical expenses and poor quality of life. According to Centers for Disease Control and Prevention (CDC) upto 6 million US citizens are contracted with the disease which is expected to rise as population ages.

The disease is identified by irregular heartbeat patterns due to upper heart chambers not being in sync with the lower chambers of the heart, which causes poor blood flow, leading to all of the above mentioned diseases. It can be passed on to offspring via genes.

In cardiomyopathy, the heart muscles become enlarged, thick, or rigid, and in extreme cases are replaced with scar tissue. The heart thus becomes inefficient in pumping blood as it becomes weaker. It pumps less blood, develops irregular heart rhythms called arrhythmias.

The clinic setting allows scientists to search for special genes. These genes have ‘mistakes’ in their DNA. These mistakes are what lead to the heart muscles becoming rigid or developing irregular beating rhythms, which is also why they can lead to genetic heart diseases such as arrhythmia or cardiomyopathy.

The laboratory setting allows scientists to not only diagnose such complex diseases but also contribute extensively towards clinical research. The scientists managed to gather a massive amount of data via the service, which other researchers can make use of so they can thoroughly investigate the actual root cause and mechanisms behind certain diseases to help improve clinical care in the future.

Just by extracting a small blood sample, scientists were able to identify 70 genes that were known to cause inherited heart disease. The scientists were able to manage this feat of accomplishment largely due to advanced technology.

Once the genes had been identified, scientist ran computational algorithms and tests to determine if the gene was responsible for causing the disease or if there were other factors involved.

What sets Oxford Medical Genetics Laboratory from other clinics apart is that once a patient comes in for a visit, the doctors run medical tests on him, provide medical care and advise whether his familiar members require testing as well.

The clinic has separate teams for recording medical history in case of a suspected inherited heart condition, which is carried out by a genetic counselling team. And in the case of patients being diagnosed with a gene change that causes a heart condition, they are assessed by the cardiology team. This allows for a more in depth and accurate medical analysis, resulting in a better overall medical care.

The medical facility is paid a visit by 400 new families each year, and followed up by 800 the next year. About two-thirds of the families are referred for genetic testing.

Hugh Watkins, professor at Oxford University and founder of the clinic, 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 know how to care for relatives of the affected person.”

The Oxford Genetics Laboratories is made up of two closely interlinked laboratories, the Molecular Genetics Laboratory and the Cytogenetics Laboratory.

The Molecular Genetics Lab has employed molecular geneticists that apply cytogenetic and molecular cytogenetic testing techniques to search for chromosomal abnormalities.

The laboratories offer a localized service and test patients from Oxfordshire, Berkshire, Buckinghamshire and parts of Northamptonshire and Wiltshire.

They often collaborate with several specialized physicians in areas such as clinical genetics, pediatrics and obstetrics. If the world of genetics sees similar scientific progress and such a massive scale of harmonious collaboration, it is not far that we may see a world free of heart disease.

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