Some patients at the National Heart Centre Singapore (NHCS) used to return year after year to check if they had inherited heart conditions - a process which could take months.
- New test cuts time needed to process the genes from half a year to just one day, with up to three weeks to interpret the data
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Allows early detection and intervention of 17 inherited heart conditions
Some patients at the National Heart Centre Singapore (NHCS) used to return year after year to check if they had inherited heart conditions - a process which could take months.
But since developing a new test that helps look for mutations in 174 genes last year, the centre is now able to screen for 17 such conditions in a fraction of the time it used to take.
"Previously, we would have to do a very slow, careful sequencing of each gene," said Professor Stuart Cook, who is the Tanoto Foundation Professor of Cardiovascular Medicine at NHCS.
Processing three genes, for instance, could take up to half a year. Some - such as those associated with an enlarged heart - were also too large to be sequenced manually.
With the new test, developed jointly with Imperial College London, genetic information can be processed in a day. It then takes two to three weeks for researchers to interpret the data that they have found.
This means that patients with such conditions will be able to get treatment tailored to their needs, according to Prof Cook.
More importantly, their family members need only get tested once to be sure whether they too carry the mutations.
"Otherwise, they are always living their whole life worrying that there is a problem," said Prof Cook, who is also director of the National Heart Research Institute Singapore.
And for those who find that they have inherited such a condition, doctors can intervene early.
"We could, for example, start them on a very cheap medication... that stops them from getting any problems," Prof Cook added.
Inherited heart conditions affect one in 100 people, and can cause problems such as sudden death or heart attacks at a very young age. They have a 50 per cent chance of being passed down to one's children.
To study the accuracy of the new test, Prof Cook and his team recruited 348 patients from Singapore and Britain.
It was found to be almost 100 per cent accurate and at least 20 times cheaper than existing methods.
The study was published in the Journal of Cardiovascular Translational Research last month.
Currently, it takes about 1.5 months to process results from the new test, as NHCS is required to perform an additional test just to make sure results are sound.
The test kit is currently being sold around the world, with many countries sending their sequencing results here for the experts at NHCS to interpret.
Author: Linette Lai
Source: The Straits Times, Singapore Press Holdings Limited. Reproduced with permission.
