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Newsroom
13/8/2015
Ontario patients now have access to more genetic tests
Ottawa, Ontario, August 13, 2015—Ontarians will now be able to obtain more comprehensive genetic tests for inherited heart conditions. The Children’s Hospital of Eastern Ontario (CHEO) has expanded its testing capabilities using some of the most sophisticated sequencing equipment available.

It’s estimated that over 700 children and young people die in Canada each year from sudden cardiac death. By detecting the causative genes, steps can be taken to manage disease and minimize the chance of death.

CHEO’s Molecular Genetics Diagnostic Laboratory is the only one in Ontario designated by the Ministry of Health to provide this new testing. The laboratory provides the most comprehensive test menu in Canada for inherited cardiomyopathies and receives samples from across the province, as well as Nunavut, Québec and even BC.

“In the case of inherited heart conditions, a little knowledge can save lives and change lives, from newborn infants, to teenagers in competitive sports, to family members of all ages,” said Alex Munter, President and CEO of CHEO. “Thanks to the high level of skill and expertise of our molecular genetics team, CHEO is very proud to be able to offer this service to Ontarians.”

Cardiomyopathies are conditions that weaken the heart muscle, decreasing its ability to pump blood. Some of them are inherited. An estimated 400 families a year in Ontario are referred for genetic tests to help diagnose the cause of a heart condition, or to identify which relatives may be at risk of a life-threatening cardiac event.

The ability to identify specific genes involved in heart conditions and get valuable medical information from the genetic profile is relatively new. It builds on new research on genetic causes and the advent of next generation sequencing (NGS) technologies. CHEO uses a MiSeq sequencer (Illumina) and this year also acquired a NextSeq500 (Illumina), with support from the CHEO Foundation. Unlike the previous generation of sequencers that examined one gene at a time, these NGS instruments can read up to 45 genes for 12 patients simultaneously — in 24 hours.

CHEO continues its leadership on the path to personalized medicine

Next Generation Sequencing, coupled with sophisticated data analysis, offers major benefits and is rapidly being integrated into clinical care. The ability to tailor medical decisions and treatment to each individual’s specific genetic profile is referred to as personalized medicine. The expertise to sequence and analyze multiple genes – as is found in CHEO’s genetics labs – paves the way for genome-based medicine as the future of health care.

The expanded tests, offered since July 1, analyze 27 different genes that can cause hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. In addition, the CHEO genetics lab now offers new testing panels for dilated cardiomyopathy and catecholaminergic polymorphic ventricular tachycardia, as well as a pan-cardiomyopathy panel that examines 45 genes.

After the genes are sequenced (read), genomic specialists, genetic counselors and scientists compare them against human genome databases and consult various literature sources to determine what they mean for the individual patient. Because the sequencers can read relevant DNA regions from the same individual hundreds of times, the results are extremely accurate.

A positive result for any of these conditions means the individuals will be closely monitored clinically and can adjust their lifestyles. They may have to restrict physical activity, and if symptoms develop, they can be treated with medication and/or a pacemaker. Once a genetic risk factor is identified in a family, other family members can pursue genetic counselling and testing to determine if they could be at risk for developing cardiomyopathy.

About the Regional Genetics Program at CHEO
At CHEO, our Regional Genetics Program strives to provide answers for every family at all stages of life. We work closely with our patients and families to provide genetic assessment, diagnosis, counselling, and testing in the areas of clinical, biochemical, cytogenetic and molecular genetics. We are home to the most successful rare gene discovery programs in Canada – FORGE Canada and Care for Rare – which have achieved international recognition. Through world-class research we have already studied 370 disorders, generating 190 diagnoses and have identified 80 rare disease genes. Our researchers and scientists are on the cusp of new genetic discoveries every day.

About CHEO
The Children’s Hospital of Eastern Ontario (CHEO) is the pediatric hospital of Canada’s capital and helps over 500,000 children and youth each year. CHEO has more than 2,500 doctors, nurses and staff dedicated to providing the best possible care for the children and youth of Eastern Ontario, Western Quebec, Nunavut and parts of Northern Ontario.

CHEO works closely with the University of Ottawa as a teaching hospital and fosters groundbreaking research through the CHEO Research Institute. CHEO’s vision is to change young lives in our community, while our innovation changes young lives around the world.

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For more information, please contact:

Eva Schacherl

Communications Manager and Strategist
Cell: 613-769-5553
eschacherl@cheo.on.ca
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