Communicating genetic results

• If a pathogenic mutation is identified, the impact on clinical management of the patient and family should be explored. This will often require risk communication skills, and communication of uncertainty, either of onset, or severity of the condition, or what the future holds for the patient and their family.

• If no mutation is identified, patients may feel angry and distressed that no cause for their condition has been identified. Communicating what happens next in light of a negative test result also requires great sensitivity and communication of uncertainty.

• If a genetic variant is identified which is difficult to interpret, the clinician will need to explain the uncertainty of the result and have a clear management plan for the patient, which may include further testing in the family.

Occasionally, genetic tests reveal unexpected information, such as incidental findings, or non-paternity. Clinicians should be prepared to explain such unexpected information in a sensitive and informative manner.