Empowering Patient Care with
Cardiogenetic Insights.

Gain expertise in interpreting test results, customizing medical management, and leveraging support resources for providers, patients, and families.

Interpreting Test Results

As you review your patient’s genetic test results for SADS conditions, it is essential to understand the implications of each outcome for optimal patient care. Once you have determined the meaning of the test results, we encourage you to proceed to the medical management section to explore tailored interventions and recommendations for your patient’s specific situation.

Positive result: 

A disease-causing genetic variation (you may also see this called a pathogenic/likely pathogenic variant or a mutation) was identified. 

If mutations in this gene are associated with the patient’s clinical diagnosis, their diagnosis has likely been confirmed; however, there may still be changes to risk and management that may be considered based on the gene and/or specific genetic variation identified. 

Depending on the test ordered, sometimes a mutation is found in a gene that causes a similar, but different, condition than the patient’s working diagnosis. This may mean different medical management to consider.

A positive result allows for cascade testing of family members.

Negative/uninformative result: 

No known mutations were identified in the genes tested. 

A negative result does not necessarily mean the absence of a genetic condition, as there could be mutations in other genes not tested or mutations that are currently unknown. This is why this is generally considered uninformative testing.

Genetic testing of family members is generally not recommended if an affected family member has negative panel testing; however, additional testing of the affected family member may be considered, such as looking at additional genes that may explain the patient’s history.

In the context of cascade testing, testing negative for the known familial mutation generally means that that individual’s risk is no greater than that of the general population for the SADS condition in the family.

Variant(s) of uncertain significance (VUS):

A VUS is a genetic change whose relationship to disease risk is currently unknown or unclear.

The identification of a VUS does not confirm or rule out a genetic diagnosis, as its impact on the patient’s health is uncertain.

A VUS should not be viewed as a positive result.

As more research is conducted and more data becomes available, the classification of a VUS may change to either a benign, likely benign, likely pathogenic, or pathogenic variant.

It is important to note that VUS findings should not be used for medical management decisions, as their clinical significance is not well-established.

Transforming Patient Outcomes with Genetic Insights

Positive Result:

Initiate targeted management: Consider prescribing medications, lifestyle modifications, and potential medical interventions (e.g., implantable cardioverter-defibrillator) to reduce the risk of arrhythmias and sudden death.

Family screening: Encourage genetic testing for at-risk family members to identify those who may also carry the disease-causing mutation and require medical management.

Long-term monitoring: Regularly assess the patient’s cardiac function and adjust treatment plans as needed to ensure optimal care.

Genetic counseling: If the patient has not already established care with a genetic counselor, refer the patient to a genetic counselor to discuss the implications of the positive result, including potential risks for family members and reproductive planning. 

Negative/uninformative Result:

Consider alternative diagnoses: Explore other potential causes of the patient’s symptoms and conduct further diagnostic testing as needed. A more comprehensive genetic testing panel may be considered.

Use your best clinical judgement: Continue to assess the patient’s cardiac function and symptoms, adjusting management strategies as necessary, taking into consideration the patient’s clinical presentation and family history.

Stay updated on genetic research: Be aware of advances in genetic testing and knowledge, which may warrant retesting or additional testing in the future.

Encourage a heart-healthy lifestyle as appropriate to minimize risk factors for cardiac events.

Variant(s) of Uncertain Significance (VUS):

Caution in decision-making: Avoid making clinical decisions based solely on the presence of a VUS; instead, consider the patient’s clinical presentation and family history.

Periodic reevaluation: Monitor the patient’s symptoms and reevaluate the VUS classification as new information becomes available in the scientific community.

Genetic counseling: If they haven’t already established care with genetics, refer the patient to a genetic counselor to discuss the implications of the VUS, consideration of variant resolution studies within the family, and the possibility of future reclassification.

Collaborate with experts: Consult with specialists in genetics, cardiology, and related fields to guide medical management and stay informed about advances in the understanding of VUSs.

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