New genetic testing service for inherited cardiac conditions

9 December 2013

A new NHS cardiac genetics centre is to offer rapid next-generation DNA sequencing based testing for genetic variants associated with inherited forms of heart disease.

The new laboratory facility is within the Cardiovascular Biomedical Research Unit at the Royal Brompton & Harefield NHS Foundation Hospital in London. Unit director Professor Dudley Pennell said that inherited cardiac conditions affected around one in every 160 people in the UK, commenting: “We will now be able to take a blood sample from a patient and their relatives, which we can then search for all the genes we know to cause inherited cardiac conditions in one go and get that answer in a couple of weeks”.
The new testing service, developed in association with  Imperial College London  and with NIHR funding, examines over 200 genes for mutations that are known to cause inherited cardiac conditions (ICCs), including many that can go undetected until an individual suffers a severe cardiac event. This may include tragic cases of sudden cardiac death among the young. It is obviously very important to be able to identify other family members who may also be at risk, to ensure that they receive the appropriate medical care. Results from the new test are available within two weeks and for a cost of £500, making it significantly faster and cheaper than previous investigations.
Opening the new unit, health secretary Jeremy Hunt noted that there was nearly half a million people with ICCs in the UK and said that the new test demonstrated the tangible benefits of human genome sequencing for health. Referring to the NHS 100,000 Genomes Project overseen by Genomics England, he went on to envisage expansion to all NHS patients, saying: “We could be the first country in the world where everyone’s genome is sequenced at birth and we use it to give people the most profoundly detailed diagnosis of what they need to do to stay healthy. We are at a moment that is potentially as significant for humanity as the founding of the internet.
Leading geneticist Professor Sir John Burn sounded a more cautious note, pointing out: “Everyone has three million genetic variants and we have virtually no idea how many of them are medically significant. There is a need for an international consortium to study this variation. We are just staring out down this path”.
For more information on inherited cardiac conditions, see the PHG Foundation report

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