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