Effective communication of genetic risk factors to patients and their families requires a clear, empathetic, and tailored approach that supports informed decision-making and shared understanding. Begin by taking a detailed family history to identify potential genetic risks, including ethnic background and consanguinity, as these influence risk profiles NICE CKS. Use jargon-free language and present risk information both numerically and qualitatively to enhance comprehension, acknowledging uncertainties inherent in risk estimates NICE CG164. Provide patients with written summaries of consultations and personal risk information to reinforce understanding and facilitate family discussions NICE CG164.
Offer genetic counselling by healthcare professionals trained in genetics to discuss the implications of genetic testing, including the meaning of positive, negative, or uncertain results, and the potential impact on the individual and relatives NICE CG164,NICE NG241. Tailor the mode of counselling (face-to-face, remote, group sessions) to patient preferences and accessibility needs, and consider using decision aids to support shared decision-making NICE NG241.
Encourage patients to involve family members in consultations where appropriate, as family communication is crucial for disseminating genetic risk information, though it can be challenging and may require support NICE CKS[Wilson et al. 2004]. Provide information on sources of support, including local and national organisations, to assist patients and families in coping with genetic risk NICE CG164,NICE CKS.
When discussing risk, emphasise modifiable lifestyle factors and preventive options, such as surveillance or risk-reducing treatments, to empower patients NICE CKS. Recognise that patients’ values, preferences, and attitudes towards risk vary widely, and explore these during discussions to personalise advice NICE CKS. Finally, advise patients to update their healthcare provider if family history changes or new symptoms develop, ensuring ongoing risk assessment and management NICE CKS,NICE CKS.
Key References
- CKS - Pre-conception - advice and management
- CG164 - Familial breast cancer: classification, care and managing breast cancer and related risks in people with a family history of breast cancer
- NG241 - Ovarian cancer: identifying and managing familial and genetic risk
- CKS - Breast cancer - managing FH
- CKS - CVD risk assessment and management
- (Wilson et al., 2004): Family communication about genetic risk: the little that is known.
- (Burns et al., 2018): Communication of genetic information to families with inherited rhythm disorders.
- (Ballard et al., 2023): Interventions to support patients with sharing genetic test results with at-risk relatives: a synthesis without meta-analysis (SWiM).