Indications for referral to clinical genetics services

At a glance

• Clinical genetics services in Australia are mostly public, state-based units in tertiary hospitals, with outreach clinics. Familial cancer centres handle hereditary cancer. Genetic metabolic services handle inborn errors. Waits for non-urgent referrals can be months, so mark urgency (pregnancy, active cancer treatment, acute metabolic illness).
• Refer when a diagnosis, predictive or reproductive decision or family follow-up depends on genetic expertise. Many straightforward tests no longer need a geneticist: mainstreamed testing in oncology, cardiology and neurology is now usual.
• The RCPA and HGSA joint guideline (April 2026) says predictive, prenatal and most diagnostic genetic tests should be requested by a medical specialist with relevant expertise, or one working with a genetic counsellor.