Prepare for Cardiogenetic Testing Success.

Understand the benefits, dispel the myths, identify the right candidates, and navigate genetic discrimination protections for effective testing.

Need help facilitating genetic testing? Genome Medical offers virtual assistance for your patients.

Actionable Insights of Cardiogenetic Testing in my Practice

Genetic results can change how you diagnose patients.

  • Diagnostic accuracy: 14% of cases could be missed when relying only on high disease suspicion.
  • Subtype classifications: Provide comprehensive subtype classifications and actionable next steps to inform clinical decision-making.
  • Cascade testing: Aid in confirming or ruling out diagnoses in at-risk family members – normal ECGs and imaging cannot rule out risk. The only way to definitely rule out risk in an at-risk family member would be if they test negative for the known family mutation.
    Need help coordinating cascade testing of at-risk family members? Genome Medical can facilitate family member testing.
  • Standard of care: Consistently recommended by major cardiology professional societies to complement clinical suspicion and improve diagnostic accuracy.


Genetic results can help inform selection of the most effective treatments

  • Treatment modification: 84% of physicians made adjustments to patient care plans based on genetic test results.
  • Personalized medicine: Identify gene-specific therapy and management recommendations for targeted treatment interventions, personalize risk stratification for improved outcomes.
  • Cost-effective care: Support coverage of therapies or prescription medications with genetic testing-based evidence for cost-effective patient care.
  • Clinical trial enrollment: May allow for enrollment in gene- or variant-specific clinical trials and ultimately advancement of personalized management.

Overall, cardiogenetic testing is an essential tool for diagnosing and managing heritable heart conditions, with the potential to improve diagnostic accuracy, inform treatment decisions, and facilitate personalized management.

Debunking Genetic Testing Myths

This section addresses common myths about genetic testing, clarifying that it is no longer prohibitively expensive, does not necessarily affect insurance eligibility, is accessible through telegenetics regardless of location, can be managed by genetic counselors to save time, and has significant clinical utility in guiding personalized treatment, risk assessment, and family testing.


Genetic testing costs thousands of dollars


This is no longer true. Many insurers cover genetic testing. Most patients pay less than $100 for testing, and a number of labs cap the out-of-pocket max for the patient at $250 or less, especially if they elect for self-pay discounted rates. If a mutation is found and family members test within a certain window, their testing may actually be free, depending upon the lab.

Genetic counselors at Genome Medical can help to determine the most cost-effective approach to genetic testing and can help to obtain necessary insurance pre-determinations/approvals.


If my patient has testing they will not be eligible for insurance.


Regarding health insurance, the Genetic Information Nondiscrimination Act (GINA) prohibits health insurers and employers from discriminating based on genetic information. HIPAA protects individuals’ health information privacy, including genetic data. Many states have additional protections. The bigger concern is in the areas of life, disability, and long-term care insurance, where such protections largely do not exist. If your patient has had unexplained syncopal episodes, an abnormal ECG/documented arrhythmia, has a pacemaker or ICD, abnormal cardiac imaging, aborted arrest, and/or a diagnosis of a SADS condition, it may already be very difficult to obtain life, disability, or long-term care insurance. Genetic testing would likely not harm their chances further. Discussion regarding obtaining such policies before testing would mostly apply to asymptomatic at-risk family members.

Genetic counselors routinely discuss insurance discrimination and available options as part of the pre-test counseling process. Consider a referral to Genome Medical for assistance.


Genetic testing has limited clinical utility.


It’s now considered standard of care, even with a clear and definitive clinical diagnosis. Genetic testing can provide valuable information for personalized treatment, risk assessment, clinical trial eligibility and drug development, reproductive planning, and cascade testing for at-risk family members. Additionally, it’s not uncommon for patients to test positive for an arrhythmia or cardiomyopathy condition that is different from their working diagnosis.


Genetic services aren’t available at my location.


Telegenetics experts like those at Genome Medical can make genetic testing and counseling accessible regardless of location – including ordering, testing, billing, and one-on-one pre- and post-test counseling with patients.


In my busy practice, there’s just not enough time to coordinate genetic testing and follow-up, to deal with complicated results or coordinate testing for family members.


Ordering genetic testing can be delegated to genetic counselors (either in-person or via telehealth GC services like Genome Medical). They can offer pre-test counseling, navigate insurance and self-pay options, aid in interpreting results, disclose results and discuss management, and coordinate testing for family. Cascade testing (testing of at-risk family members for the mutation that has been found in the family) can save cardiologists time in the long run, because gene-negative family members won’t need ECG/echocardiogram surveillance!

Identifying Candidates for Cardiogenetic Testing

It is standard of care for any patient with a SADS condition or suspected of having a SADS condition to undergo cardiogenetic testing.

Additionally, if a disease-causing genetic mutation has been found in the family, those family members who are at risk should test for the known family mutation.

When should I be concerned about a possible SADS condition?

A Sudden Arrhythmic Death Syndrome (SADS) condition might be suspected in an individual if they exhibit one or more of the following signs or risk factors:

  1. Personal history: If the individual has experienced unexplained fainting (syncope), seizures, or episodes of cardiac arrest, these could be indicative of an underlying SADS condition.
  2. Family history: A family history of sudden cardiac death, especially in young (under age 40) and seemingly healthy individuals, could raise suspicion of a SADS condition.
  3. Exercise-related symptoms: If the person experiences unexplained shortness of breath, chest pain, or fainting during or immediately after physical activity, this could suggest a possible SADS condition.
  4. Sleep-related symptoms: In some cases, SADS conditions may manifest as nocturnal symptoms, such as episodes of gasping or seizures during sleep, or even sudden death during sleep.
  5. Abnormal cardiac findings: Suspicion may arise if an individual has abnormal findings on an electrocardiogram (ECG) or stress test, such as prolonged QT interval, Brugada syndrome pattern, or evidence of catecholaminergic polymorphic ventricular tachycardia (CPVT).
  6. Unexplained drowning: Some SADS conditions may lead to fatal arrhythmias during swimming or other aquatic activities, so a history of unexplained drowning in the family may indicate an underlying SADS condition.

Understanding Genetic Privacy and Protections

HIPAA and GINA protect individuals’ privacy and prevent genetic discrimination in health insurance and employment, but GINA does not cover life, long-term care, or disability insurance. State regulations may offer some protections, but obtaining new policies in these areas can be challenging for patients with certain cardiac conditions or family histories. Despite this, many patients make the informed decision to move forward with genetic testing. Concerns regarding privacy and protections can be discussed during pre-test counseling with a genetic counselor.

Genetic counselors routinely discuss insurance discrimination and available options as part of the pre-test counseling process. Consider a referral to Genome Medical for assistance.


1.) Callis T, Truty R, Esplin E, et al. J Am Coll Cardiol. 2020;75(11)(suppl1):1-5.
2.) McNally EM. JAMA Cardiol. 2017;2(10):1151-1152.
3.) Murdock DR et al. Genetic Med. 2021. doi: 10.1038/s41436-021-01294-8.
4.) Wilde AAM et al. Heart Rhythm. 2022 Jul;19(7):e1-e60. doi: 10.1016/j.hrthm.2022.03.1225. Epub 2022 Apr 4. PMID: 35390533.

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