How should I approach the referral process for a patient suspected of having a genetic disorder?

Approach to Referral for a Patient Suspected of Having a Genetic Disorder

• Take a detailed history including family history of genetic conditions, ethnic background, consanguinity, and obstetric history to identify potential genetic risks ¹.
• Consider referral to a healthcare provider with genetics expertise for risk assessment, evaluation, and consideration of diagnostic testing if there is a personal or family history of an inherited genetic disorder, previous affected pregnancy, consanguinity, or recurrent pregnancy losses ¹.
• Provide careful genetic counselling before testing as this requires specialist knowledge and resources often not available in primary care ¹.
• Refer to a clinical genetics specialist if a chromosomal or genetic anomaly is suspected, or if there is teratogenic exposure that may contribute to the condition ²,⁴.
• For specific conditions such as familial breast cancer, use established referral criteria based on family history patterns and risk assessments to decide on referral to secondary care or specialist genetic clinics ³.
• Provide patients with written information about what to expect during referral and genetic testing, including the implications and support available ³.
• Use local referral pathways and multidisciplinary teams for assessment and management, ensuring ongoing support and communication with primary care ²,³.