How should I approach discussions about genomic testing with patients who have a family history of genetic disorders?

Approach to discussions about genomic testing with patients who have a family history of genetic disorders:

• Ensure pre-test counselling is provided: Genetic testing should not be offered without adequate genetic counselling, preferably involving two sessions, to help patients understand the implications of testing and support informed decision-making ².
• Use healthcare professionals with appropriate training: Discussions about genetic testing should be undertaken by healthcare professionals trained in genetics to ensure accurate information and support ².
• Explain the purpose and scope of testing: Inform patients about the type of genetic test being offered, such as mutation finding in affected family members or predictive testing, and the genes involved (e.g., BRCA1, BRCA2, TP53) ²,¹.
• Discuss carrier probability and risk: Use validated carrier probability calculation methods (e.g., BOADICEA, Manchester scoring system) alongside family history to estimate the likelihood of a pathogenic variant and communicate this risk clearly, including uncertainties ².
• Clarify possible test outcomes and implications: Explain the meaning of positive, negative, and variants of uncertain significance results, including implications for the patient and their family members ².
• Encourage involvement of affected relatives: Where possible, testing should start with an affected family member to improve mutation detection sensitivity and inform testing strategies for unaffected relatives ².
• Provide tailored information and support: Offer individually tailored information and signpost to local and national support organisations to facilitate patient understanding and coping ².
• Document and communicate risk estimates: Provide patients with a written summary of their consultation including personal risk estimates and the uncertainties involved ².
• Refer to specialist genetic clinics when appropriate: Patients with a significant family history or carrier probability (e.g., ≥10% for BRCA mutations) should be referred to specialist genetic services for further assessment and testing ².