Genetic Counselling

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Session · 35 of 35

Genetic Counselling

Genetic counselling is increasingly important in neurology with growing test availability. The session covers Huntington pre-symptomatic testing protocols (including pre-test counselling, informed consent, post-test support), ALS genetic counselling (SOD1, C9orf72, FUS), familial Alzheimer's testing considerations (APP, PSEN1, PSEN2, APOE), polygenic risk score communication challenges, the ethical considerations of CNS genetic testing in childhood, and the return-of-results frameworks. Discussion addresses direct-to-consumer genetic testing implications, family-cascade testing approaches, the role of genetic counsellors in research, the patient-experience implications, and the equity and access considerations for genetic testing.

Topics covered in this session
  • HD pre-symptomatic testing
  • ALS genetic counselling
  • Familial AD testing
  • Polygenic risk communication
  • Childhood testing ethics
  • Return-of-results frameworks
  • Direct-to-consumer testing
  • Family cascade testing