Cardiac Genome Clinic

In this cutting-edge program we investigate the genetic causes of heart failure in fetuses, children and adults. We see patients with a variety of heart conditions, including congenital heart diseases, cardiomyopathies and arrhythmias.

Children standing in a row
DNA strands

Download the Cardiac Genome brochures: Mount Sinai | SickKids | UHN

We perform genome-wide sequencing as well as standard genetics services in a bid to identify what is causing disease, determine appropriate treatment strategies, and bring precision management to patients of all ages – and their family members. Data captured through our participating patients are also used to advance our knowledge of the genetic causes of heart failure and serve as evidence for integrating genomics into routine clinical care.

Together, a multidisciplinary team of medical geneticists, cardiologists, data and genome analysts, genetic counsellors and bioinformaticians are improving health outcomes for families.

Thank you to the 500 families who have participated in this genomic project, to help find answers and drive forward this vital research field.

Genetics of the heart: resources for families

Download the Cardiac Genome brochures: Mount Sinai | SickKids | UHN

Areas of Impact

Returning results to families

Our genome-wide sequencing efforts are designed to directly impact care by translating research findings straight to the clinic. Our team has built a seamless method to return findings to patients and their health-care teams.

These might include suspicious or known genetic variants that explain why a patient and/or family member has heart disease or other health problems. Participants may also opt to receive “actionable” findings unrelated to their heart condition.

All findings help guide next steps for medical care and clarify if other family members are at risk for the same ailment. We then connect patients with the right specialists for follow-up.

Finding the right medications

Our program is a leader in the emerging area of pharmacogenomics. We hunt for drug-gene pairs in each patient in order to find what medication at what dose will be most effective and safest.

For example: a young patient may not be able to activate clopidogrel the same way as the average person, meaning that this drug may not be helpful to prevent blood clots from happening – a dangerous situation if left unchecked.

Building new tools for all to use

“GeneTerpret” is a bioinformatics tool that we published online at for widespread use. It saves analysts hours on each case and delivers a priority list of the genes and variants that are highest-risk to cause disease in that specific patient. The tool, proven to be effective in a 2022 study, makes it vastly more efficient to interpret a genome.

Another tool that we have created is the Suite for Copy Number Variant Interpretation and Prioritization (SCIP). Available for all to use, it helps determine the meaning of extra or missing genomic material in patients found through genome-wide sequencing.

Leading research to understand the genetic roots of heart failure

The clinical and genomic data collected through the Cardiac Genome Clinic is used by our team to advance research into the genetic causes of heart failure. Prior research from our team has led to a better understanding of the genetic causes of congenital heart conditions such as tetralogy of Fallot.

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