Canadian Genetic Heart Rhythm Network

For Patients & The Public

Genetic Testing

Genetic testing has the potential to help both individuals and families determine if a disease is present, and assist with treatment decisions. At present, genetic testing for many inherited heart rhythm disorders is available on a research basis in many laboratories around the world. Established approaches to testing have lead to broader access for clinical testing, which is the case in some regions of Canada. Simply checking for “the gene” is not possible in many of these conditions. Most new patients will have a new genetic abnormality if it can be detected (called a private mutation), so the process is expensive and time consuming since a gene sequencer has to read every letter of the DNA in the region of the gene to look for the “typo”. Because this is a relatively new genetic discovery in such a rare disease, there is much to be learned about the meaning of specific mutations, how frequently a mutation can be detected, or how often the patient has symptoms if they carry the mutation (called genetic penetrance). As with other conditions, genetic screening raises issues regarding branding (you feel well but your genes tell us you have a disease), life insurance, and the usual range of human responses to family health issues (anger, denial, hypervigilance etc). Nonetheless, there are plenty of situations where the diagnosis is not clear from clinical testing, so that genetic testing is very valuable in detecting a problem, and directing treatment. Cost is a challenge that will continue for the foreseeable future in this area.

Familion testing information brochures for patients:

More information on genetics: