Paeds Vivas · genetics-dysmorphology-and-metabolism
Ethical issues in genomic diagnosis and cascade testing
Viva on the ethical classification of paediatric genetic tests and the management of predictive testing, secondary findings, and cascade testing.
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racp_advancedracp_dcemrcpch_clinical
Prompt
A clinical geneticist asks you to discuss the ethics of genetic testing in children across four scenarios.
**Discuss:** (1) how you classify a paediatric genetic test by its ethical demand (diagnostic, predictive, carrier, susceptibility) and the single question that resolves most dilemmas; (2) the position on predictive testing for an adult-onset condition with no childhood benefit versus a childhood-actionable condition such as MEN2, and the principle that governs the difference; (3) the ACMG secondary-findings list as an opt-in framework, the evolution of the policy, and what happens when an actionable variant is found without prior consent; (4) the cascade-testing pathway, including the proband's confidentiality, the mechanism for contacting relatives, and the right not to know.