Table 1 Discussion points for pre-test and post-test cardiac genetic counseling [17]
From: Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results
Key issues | Discussion points |
|---|---|
Genetic education | Clear explanation of genetic inheritance of the disease |
Process of genetic testing | What was performed, how many genes were sequenced, limitations of our current technology |
Explanation of all possible outcomes | Detailed discussion of potential outcomes of testing, i.e., pathogenicity of variants identified, potential for uncertainty requiring further investigation, potential for no variants to be identified |
Clinical implications | Explain clinical implications of the gene result to the patient and their family members |
Genetic implications | Explain the inheritance risks and genetic testing options for family members |
Risk of reclassification | Families should be aware there is a small chance of reclassification of a variant, especially in cases where the evidence for causation is not as strong |
Explore feelings and understanding | Ask how they feel about receiving their result, determine how family communication and dynamics will allow this information to be passed on. Gauge level of understanding of the information presented |
Provide support with family communication and clinical or genetic screening | Offer assistance in conveying this information to family members, identifying local cardiologists to perform clinical screening and resources to explain the genetic testing options available to family members. |