Genetic Sudden Cardiac Death Screening Test on the Horizon

The Montreal Heart Institute will work with GnuBIO to develop a genetic sudden cardiac death screening panel in order to predict risk in patients

CAMBRIDGE, Mass.--(BUSINESS WIRE)-- GnuBIO, Inc. (GnuBIO), 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,

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.

About GnuBIO

GnuBIO, Inc. ( is a private company and a pioneer in the field of scalable DNA sequencing technology for the Diagnostic and Applied Markets. Utilizing its proprietary microfluidic and emulsion technologies, GnuBIO will work within these markets to develop nucleic acid analysis based systems that scale as a function of both patient sample and genomic region. The GnuBIO system has the capability of running numbers of samples that are in line with diagnostic and applied market requirements for a cost that is orders of magnitude lower than with current technology.

The GnuBIO system has a completely integrated workflow, inclusive of genomic selection, amplification, sequencing and real time informatics (assembly and variant calling), allowing researchers and clinicians to simply inject genomic DNA, and walk away – with data on the target regions in approximately 2 hours.

About the Beaulieu-Saucier Université de Montréal Pharmacogenomics Centre

The Beaulieu-Saucier Université de Montréal’s Pharmacogenomics Centre at the Montreal Heart Institute is a cutting-edge GLP clinical genotyping laboratory that supports clinical trial work and consists of two parallel components: a technology development platform and a clinical operations platform. Its aim is to develop and integrate genomic biomarkers into healthcare. The Centre is primarily focused on personalized medicine offering specialized pharmacogenomics services and technologically advanced tools to clinical, industrial and academic projects. The Centre brings together a multidisciplinary team of specialized researchers and students in genomic sciences, bioinformatics and clinical research studies. From a technological standpoint, the Centre was designed to meet the highest operating and security standards in the field and is the only such centre of its kind to be part of a Canadian academic setting and one of the few around the world.


Susie Truong Harborth, 617-446-6742
Senior Vice President, Business Operations
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INDUSTRY KEYWORDS:   Health  Cardiology  Genetics  Other Health  General Health