Genetic sudden cardiac death screening test on the horizon

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GnuBIO and the Montreal Heart Institute (MHI) announced on 11 January that they will complete the development of a genetic panel in order to screen patients to determine the risk for sudden cardiac death.

The MHI will work with GnuBIO to develop and validate a proprietary set of clinically relevant sudden cardiac death genes in its collection of sudden cardiac death patients using GnuBIO’s scalable desktop DNA sequencing system. The result will be a clinically validated test the can be used to assess the risk of sudden cardiac death in susceptible patients on a sequencing platform that will significantly reduce the time from patient to result. Financial details and royalties were not disclosed.


There are a number of genetic factors that have been shown to affect sudden cardiac death. Recently, a number of groups in Europe and North American have published recommendations on the optimal clinical use of genetics to screen patients for channalopathies and cardiomyopathies linked to sudden cardiac death.


“Each year, sudden cardiac death takes the lives of an untold number of unexpecting otherwise healthy individuals,” said Michael Phillips, director of the Molecular Diagnostic Laboratory, within the Beaulieu-Saucier Université de Montréal Pharmacogenomics Centre at the Montreal Heart Institute, Canada. “Sudden cardiac death is particularly dangerous, as the first time the patient has symptoms is often the first and only time they have a serious event. In the United States, one out of every 44,000 student athletes dies each year from sudden cardiac death. Genetics is proving to be the best method to proactively detect this disease before something happens. With the GnuBio next generation sequencing platform we will be able to perform these analyses quicker, and cheaper than ever before.”


Fatalities from SCD in otherwise healthy student athletes are jarring events that make national headlines. While it has been proposed that electrocardiograms (ECGs) be employed as a screening tool, this effectiveness of this method has been debated mainly because ECGs are expensive and heart arrhythmias are so rare that many argue that it is not cost-effective.


DNA sequencing approaches utilising genetic panels have been considered in the past as a methodology, but have not been practical due to the large number of patients needed to make a screen cost effective and the extensive upfront preparation needed to be performed on patient samples. A DNA sequencing screening tool, such as the GnuBIO system that is independent of patient number, meaning one does not need to run a large number of patients at once in order to make the test cost effective, will remove the financing barrier and thus enable DNA sequencing in the clinic.

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