Genetic testing plays a crucial role in the assessment of patients with a family history of sudden cardiac death (SCD), particularly in identifying inherited cardiovascular diseases and informing management strategies Thomas & Battle 2015Laracuente et al. 2019. Following a sudden cardiac death in a family, genetic assessment is important to understand potential underlying causes Laracuente et al. 2019. This assessment can also aid in evaluating the risk of SCD in pediatric primary electrical disorders Pupaza et al. 2023.
Before offering genetic testing, comprehensive genetic counselling is essential, ideally involving two sessions NICE CG164. This counselling should be conducted by a healthcare professional with appropriate training NICE CG164. Discussions should cover the potential risks and benefits of genetic testing, the probability of finding a mutation, and the implications of the results for both the individual and their family NICE CG164. Patients should also be informed about the likely informativeness of the test, including the meaning of positive, negative, or uncertain results, and the expected timescale for receiving results NICE CG164.
For mutation finding, testing should ideally begin with an affected family member where possible NICE CG164. If a pathogenic variant is identified, cascade testing should then be offered to first-degree relatives NICE NG241. The selection of an appropriate gene panel for testing should be guided by the individual's family or personal history, utilising resources such as the UK national genomic test directory NICE NG241. Genetic services should offer genetic counselling and testing to individuals who have a raised probability of having a pathogenic variant based on a verified family history NICE NG241. If no clear genetic diagnosis is found, families should be informed that they can request a review in a specialist genetic clinic at a future date NICE CG164. Clinical genetics laboratories are expected to record gene variants of uncertain significance and known pathogenic mutations in a searchable electronic database NICE CG164.
Key References
- NG241 - Ovarian cancer: identifying and managing familial and genetic risk
- CG164 - Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer
- (Thomas and Battle, 2015): Something Old, Something New: Using Family History and Genetic Testing to Diagnose and Manage Athletes with Inherited Cardiovascular Disease.
- (Laracuente et al., 2019): Cases in Precision Medicine: Genetic Assessment After a Sudden Cardiac Death in the Family.
- (Pupaza et al., 2023): Assessment of Sudden Cardiac Death Risk in Pediatric Primary Electrical Disorders: A Comprehensive Overview.