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HD Presymptomatic Testing – Ethical Protocol — SCE Neurology MCQ

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HardNeurogeneticsHD Presymptomatic Testing – Ethical ProtocolSCE Neurology

An asymptomatic 30-year-old whose father has molecularly confirmed Huntington disease asks his neurologist to take blood for a predictive CAG-repeat test today. He understands that a positive result may affect insurance and family planning and says he does not want to delay. What is the most appropriate pathway?

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Correct answer: E — Refer to clinical genetics for the agreed predictive-testing counselling protocol before any voluntary test

An adult at risk may choose predictive testing, but the decision should be made through a specialist genetics pathway rather than by immediate opportunistic phlebotomy. UK Huntington services use an agreed counselling protocol, usually with several sessions, to explore the irreversible nature of knowing the result, psychological readiness, family implications, insurance and employment, and plans for disclosure and follow-up. Attendance does not oblige the person to be tested, and the final choice remains voluntary. Testing need not wait for symptoms, a parent cannot veto an adult’s autonomous decision, and post-result counselling should be available whatever the result.

Reference: Huntington’s Disease Association, Genetic testing: https://www.hda.org.uk/information-and-support/getting-help/genetic-testing/