GnuBIO, Inc. (GnuBIO), www.gnubio.com a pioneer in scalable desktop DNA sequencing and the Montreal Heart Institute (MHI) have announced today that they will complete the development of a genetic panel in order to screen patients to determine the risk for sudden cardiac death, SCD. The MHI will work with GnuBIO to develop and validate a proprietary set of clinically relevant SCD genes in its collection of SCD 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 SCD in susceptible patients on a sequencing platform that will significantly reduce the time from patient to result. Financial details and royalties were not disclosed.
Sudden cardiac death (SCD) is a condition when the heart suddenly and unexpectedly stops beating. There are a number of genetic factors that have been shown to affect SCD. 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 SCD. If a patient is at risk for SCD, a life saving defibrillator can be preventatively placed in the patient to help restart their heart in the instance of a major catastrophic clinical event. "Each year, sudden cardiac death takes the lives of an untold number of unexpecting otherwise healthy individuals," stated Dr. Michael Phillips, Director of the Molecular Diagnostic Laboratory, within the Beaulieu-Saucier Université de Montréal Pharmacogenomics Centre at the Montreal Heart Institute. "SCD 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 SCD. 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 analysis quicker, and cheaper than ever before," Phillips continued.
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.
"In speaking with clinical laboratories, reimbursement groups, and insurance providers, it is clear that all groups want to provide the most predictive test and streamline financing," stated John Boyce, President and CEO of GnuBIO, www.gnubio.com.
DNA sequencing approaches utilizing 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 doesn't 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.
"Scalable DNA sequencing will meet the needs of the clinic and make available a wide array of more predictive diagnostic tests that will result in improved patient care, and a better of quality of life for the patient," Boyce continued.
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