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Genetic database needed to prevent cardiac deaths, says genomics expert

16 September 2013
Appeared in BioNews 722

One comprehensive genetic database is needed for the prevention of deaths from cardiac disease to be a reality, says a cardiology expert.

'Advances in next-generation sequencing have allowed us to look at more genes in more people, but for this to be useful in the long term, we need a better way of collating this data', says Dr Elijah Behr, consultant cardiologist at St George's Hospital in London, speaking at the British Society for Genetic Medicine's annual conference.

'Although costs of such genetic tests have at least halved in the last five years, there needs to be investment into bioinformatics, allowing data storage and analysis on a much larger scale', says Dr Behr.

Genetic tests provide crucial clues to sudden arrhythmic death syndrome (SADS), which is responsible for around 500 unexpected deaths in young people the UK every year.

Sudden cardiac death can be caused by undiagnosed heart problems such as long QT syndrome, a disorder where the heart's rhythm may become abnormally fast. This affects one in 2,000 people in the UK, and is caused by genetic mutations.

'In cases where a young person has died suddenly, genetic tests can provide a "molecular autopsy" to show why this happened', says Dr Behr. 'If the cause is found to be genetic, it could be the case that their family might suffer from the same problem'.

'Clinical tests in such families show that up to 50 percent of them may be affected by the same faulty gene. Using this knowledge, they can adapt their lifestyles, receive treatment and manage their condition'.

Although long QT syndrome cannot be cured, having the syndrome diagnosed allows people to adapt their lifestyles and avoid potentially life-threatening triggers such as strenuous exercise.

Currently, no official database exists where genomics researchers can submit and access genetic and clinical data on families with heart conditions such as long QT syndrome.

'Genetic technology is useful as a diagnostic tool for uncommon conditions like long QT syndrome, but for it to tell us about who would be at risk of heart conditions in the general population, we need to be able to collect and analyse information on a much larger scale', says Dr Behr.

'There is an overwhelming need for a comprehensive national database that will allow us to pool genomic data to help prevent life-threatening heart problems in the population'.

Dr Behr was talking about his work prior to his presentation 'The Impact of Genomics on Cardiovascular Services' at the British Society for Genetic Medicine's annual conference, held at the Liverpool Arena and Convention Centre on Monday 16 September 2013.

SOURCES & REFERENCES
Genetic testing for inherited cardiac disease
Nature Reviews Cardiology |  30 July 2013
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