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Evidence to Improve Care

Genetic Testing for Predisposition to Dilated Cardiomyopathy

Ontario Health Technology Advisory Committee Recommendation

  • The Ontario Health Technology Advisory Committee does not recommend access to genetic testing for dilated cardiomyopathy for individuals diagnosed with this disease or for their immediate or extended family members

Read the full OHTAC Recommendation Report

Dilated cardiomyopathy is a disease of the heart muscle. It can cause the heart’s main pumping chamber (left ventricle) to stretch; as a result it can’t pump blood as well as it should. Dilated cardiomyopathy is a leading cause of irregular heartbeat (arrhythmia) and heart failure; however, the condition is largely underdiagnosed and often discovered late in the course of disease, once clinical symptoms are present.

Genetic Testing for Predisposition to Dilated Cardiomyopathy

Genetic testing is primarily meant to identify whether an individual carries a disease-causing mutation (a DNA sequence that differs from what is found in most people) that could be common among family members. Family members with this mutation who do not show symptoms of the disease may be at risk of developing dilated cardiomyopathy later in life. Identification of these high-risk family members could allow for heightened medical monitoring and early management if symptoms appear.

Genetic Testing for Predisposition to Dilated Cardiomyopathy: A Preliminary Evidence Review (PDF)
March 2012

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The Ministry of Health and Long Term Care accepted this recommendation when it was submitted in 2012.

The Ministry of Health and Long-Term Care has provided the following response: However, evidence on this topic has changed since 2012 and this test is now funded in clinically appropriate populations in select hospitals.

Health Technology Assessment at Health Quality Ontario

As part of our core function to promote health care supported by the best available evidence, we use established scientific methods to analyze the evidence for a wide range of health interventions, including diagnostic tests, medical devices, interventional and surgical procedures, health care programs and models of care. These analyses are informed by input from a range of individuals, including patients and clinical experts. The Ontario Health Technology Advisory Committee — a committee of the Health Quality Ontario board of directors — reviews the evidence and makes recommendations about whether health care interventions should be publicly funded or not. Draft recommendations are posted on the Health Quality Ontario website for feedback. Final recommendations are approved by our board of directors and then shared with the Ministry of Health and Long-Term Care. For more detailed information, visit our Evidence to Improve Care pages.


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