Table 4.

Counselling aspects and general considerations for genetic testing in individuals with epilepsy.

Counselling aspects to be considered with affected individual/legal guardian) before genetic testing: • Explanation of the indication for genetic testing in the individual case • Explanation of test choice • Discussion of possible outcomes, e.g., definitive result vs. variant of uncertain significance (VUS) vs. ‘negative’ result • Explanation of potential positive results • Discussion of potential effects of results on non-medical issues (e.g., health insurance, social stigma, family dynamics) • Discussion of the limitations of interpretation • Outline of expected possibilities for precision medicine • Discussion of coverage of costs, if relevant • Discussion of potential next steps if initial results are unrevealing (e.g., for re-analysis or additional testing)

General aspects for the clinician to consider before genetic testing: • Test selection based on individual phenotype • Listing of clinical features to the laboratory (e.g., HPO-based list of features) • Informed consent for genetic testing method(s) • Consideration of alternatives to clinical testing (e.g., research) if costs are prohibitive.

Counselling aspects to be considered after genetic testing: • Explanation of results and their impact on diagnosis, surveillance, and prognosis • Discussion of next steps if results do not provide a genetic diagnosis • Impact on comorbidities • Discussion of therapeutic implications • Impact on psychological wellbeing • Impact on further family planning and potentially other family members • Impact on social circumstances • Discussion of interpretation limits – inclusive positive or negative results and VUS.