How sick children could save their family members

Top of mind at The Hospital for Sick Children is the successful treatment of young and often very young patients. Those families who visit the Heart Centre tend to face significant diagnostic evaluations and treatment strategies. What doesn’t occur to most parents, grandparents and siblings is that their sick young family member could, in turn, save their lives.

This potential twist of fate is possible within the genetic testing performed as part of the Ted Rogers Centre for Heart Research Precision Medicine program.

“For many conditions known to be genetic, we already do genetic testing for children,” says Dr. Sarah Bowdin. Dr. Bowdin is SickKids physician in clinical and metabolic genetics, co-scientific lead for the Ted Rogers Centre, and will be driving the Ted Rogers Centre Cardiac Genome Clinic.

“We know, for instance, that cardiomyopathy often runs in families. A child may present with a severe case, and their family members may also be at risk but not know it yet. We aim to diagnose and treat the child with cardiomyopathy, and we aim to find the genetic change that causes it.”

Finding certainty in uncertain area

If a molecular diagnosis is made through genetic testing in the child, family members can be offered targeted testing for the known genetic cause. This can lead to potentially life-saving strategies through screening appropriate family members and diagnosing the condition early, or implementing preventative measures.

Just as importantly, by knowing the genetic cause, family members who are not at risk for hereditary heart failure can be identified and avoid undergoing regular screening and follow up.

“It’s much easier for management purposes to know who in a family might develop cardiomyopathy,” Dr. Bowdin says. “Genetic testing provides certainty in an uncertain area.”

Over the past 15 years, scientists have discovered many genes associated with hereditary forms of cardiomyopathy. Still, about 50% of all cases of cardiomyopathy have no genetic diagnosis. There are untold numbers of genetic sequences and changes still to be discovered. The Cardiac Genome Clinic will recruit these families with cardiomyopathy who have no genetic diagnosis, with the hope that by utilizing new genetic technology, they will be able to provide these families with answers.

The clinic intends to also focus outside the pediatric scope. Along with partners at University Health Network, the clinic aims to recruit adults with cardiomyopathy. Equipped with a genetic diagnosis, the family could, in turn, be able to offer their children the opportunity to have the same potentially life-saving preventive measures.