How should I approach the genetic testing and counselling for a patient with a family history of Neurofibromatosis?

Approach to Genetic Testing and Counselling for Neurofibromatosis Family History

• Referral to Specialist Genetics Service: Patients with a family history of neurofibromatosis should be referred to a specialist genetic clinic for detailed assessment and counselling, as neurofibromatosis is a genetic condition requiring expert evaluation.
• Pre-test Genetic Counselling: Before any genetic testing, patients should receive pre-test counselling, ideally in two sessions, conducted by healthcare professionals with appropriate genetics training to discuss the implications, benefits, and limitations of testing.
• Testing Strategy: Genetic testing should ideally begin with an affected family member to identify the causative mutation, which then informs testing in at-risk relatives.
• Information Provision: Patients and their families should be informed about the meaning of positive, negative, or uncertain test results, including the potential psychological and familial implications.
• Written Information and Support: Provide tailored written information summarising the counselling session, genetic risks, and available support resources.
• Ongoing Review: Families without a clear genetic diagnosis should be offered the opportunity for future review in specialist genetics clinics as new information or testing methods become available.

This approach ensures informed decision-making, appropriate use of genetic testing, and comprehensive support for patients with a family history of neurofibromatosis.