A new test will enable people around the world to discover whether they carry a genetic mutation that causes sudden cardiac arrest, which kills 9 out of 10 people who develop it, researchers said.
Researchers from the Victor Chang Heart Research Institute in Australia have developed a new test that can screen for hundreds of genetic mutations to identify the exact heart-damaging mutations of those with inherited heart disorder syndromes that can cause sudden death.
This breakthrough is a giant step in genetic testing not only on inherited heart disorders but also on a wide range of neurological conditions, muscle and kidney diseases.
“Young people, with healthy hearts, are the ones who die from these inherited heart disorders,” says Professor Jamie Vandenberg, who led the research published in two consecutive papers in the American Journal of Human Genetics.
Being able to identify these dangerous mutations will prevent people from dying of sudden cardiac arrest and ensure that more people are treated for this life-threatening disorder, says author Dr Chai Ann Ng, of the Victor Chang Heart Research Institute.
“If you can isolate the mutation and identify those at risk, there are lifestyle changes people can make,” adds Dr. Ng.
“Genetic sequencing reveals that everyone has a wide range of genetic mutations, but we are not always able to determine whether these mutations are dangerous or not.”
“So, when a patient’s lab tells a patient that they have a mutation, we don’t know if it increases the risk of cardiac arrest. That creates a great deal of concern not only for the patient but for the rest of the family who may also have inherited the same mutation. Now, we can Removing the uncertainty. This is a major development.”
Prof Vandenberg said they hope that “within five years, they will find out immediately whether a mutation is dangerous once a person does a genetic test or sequences their genome.”
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