Dr Kola Tytler MBBS CertHE MBA MRCGPClinical Lead • iatroX
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 NICE CG164.
- 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 NICE CG164.
- 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) NICE CG164,NICE NG241.
- 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 NICE CG164.
- 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 NICE CG164.
- 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 NICE CG164.
- Provide tailored information and support: Offer individually tailored information and signpost to local and national support organisations to facilitate patient understanding and coping NICE CG164.
- Document and communicate risk estimates: Provide patients with a written summary of their consultation including personal risk estimates and the uncertainties involved NICE CG164.
- 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 NICE CG164.