A Talk That’s Good For The Heart
Dr. Stepheny Zani - 22 January 2026
You probably have heard about cardiovascular disease being the leading cause of death globally. But have you thought about inherited heart disease? People tend to forget that genetics also affects the chances of developing heart disease; in fact, it accounts for about 20-30% of the risk of developing heart disease.
Inherited heart conditions are associated with DNA variants that can cause problems in the heart. Because DNA guides the formation and function of the body, having a variant in the DNA sequence linked to the heart may affect how well it works. For example, someone might have a DNAvariant,- and develop a heart condition in childhood, adolescence, or later in life, such as arrhythmia or cardiomyopathy in the absence of other risk factors.
The way to identify variants is simple - it’s a genetic test. But when a test comes back positive for a variant, the road forward is far less easy. That’s where a cardiac genetic counsellor comes into the picture.
A cardiac genetic counsellor can perform a number of duties, such as gathering family history, determining which tests are best, and working with the patient to adapt to their genetic result.. But this is the front-facing part of the position. What happens when the patient isn’t around is somewhat uncertain and in need of some principles and guidelines.
To understand the role of cardiac genetic counsellors, Dr. Susan Christian and Tara Dzwiniel undertook the effort to examine the process behind cardiac genetic testing and attempted to identify principles for policy development. Their efforts are published in the journal, Heart Failure Clinics.
As highlighted by the authors, counselling is an important part of genetic screening not only for the patient but for family and relatives - after all, genes are inherited. Upon identifying a valid and curated diagnostic variant, a genetic counsellor can talk to the patient about what this means for their relatives, and recommend familial screening options. This can assist in accessing early treatment for relatives who are also found to be at risk. Research has shown that early diagnosis and treatment significantly improves long term health outcomes.
Which leads to another important aspect of the cardiac genetic counsellor - interpretation and curation of variants. Some variants have uncertain significance. Published lists of likely pathogenic or pathogenic variants are paramount to ensure proper diagnosis is achieved. But this can only happen as a result of genetic counsellors taking variants and working with groups such as the Clinical Genome (ClinGen/ClinVar) Resource gene curation working group. As more evidence is gathered, the variants can be better assessed and classified.
Christian and Dzwiniel also identified one other issue that may require a change in the practice of genetic testing. While genetic testing prior to birth is a known option for future parents, the use of this testing post-mortem to provide answers, closure, and help keep other relatives safe, is increasingly utilized.. Although postmortem genetic testing may not always give families an answer, in the context of cardiac disease, the evidence suggests that it should be considered.
If there is one message that needs to be taken from this paper, it should be that cardiac genetic counselling is needed more than ever and those who undertake it require a significant skill set. Their job is more than meeting with families, they are involved across the spectrum of medical genetics to ensure patients are given the best care possible.