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Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children

机译:澳大利亚人遗传学协会陈述声明:成人和儿童的预测和假设基因检测

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摘要

In 2020, the Human Genetics Society of Australasia released its Position Statement on Predictive and Presymptomatic Genetic Testing in Adults and Children. This Position Statement synthesizes the major practical, psychosocial and ethical considerations associated with presymptomatic and predictive genetic testing in adults who have the capacity to make a decision, children and young people who lack capacity and adults living with reduced or fluctuating capacity. Recommendations include that predictive testing in adults, young people and children should only be offered with pretest genetic counseling and the option of posttest genetic counseling. An individual considering (for themselves or on behalf of another) whether to have a predictive test should also be supported to allow them to make an autonomous and informed decision. Predictive testing should only be offered to children and young people for conditions where there is likely to be adirect medical benefitto them through surveillance, use of prevention strategies or other medical interventions in the immediate future. Where symptoms are likely to develop in childhood, in the absence of options to implement surveillance or risk reduction measures, genetic health professionals and parents/guardians should discuss whether undertaking predictive testing is the best course of action for the child and the family as a whole. Where symptoms are likely to develop in adulthood, the default position should be to postpone predictive testing until the young person achieves the capacity to make their own autonomous and informed decision.
机译:2020年,澳大利亚人类遗传学协会发布了关于成人和儿童预测性和假设遗传学检测的立场陈述。该职位声明综合了与具有缺乏能力和减少能力的能力和成年人的成年能力的成年人中的大型实际,心理社会和伦理试验相关的主要实际,心理社会和伦理考虑因素。建议包括在成人,年轻人和儿童中的预测测试只能提供预先预防的遗传咨询和后测试遗传咨询的选择。考虑(为自己或代表另一种)的个人也应该支持是否有预测测试,以允许他们做出自主和明智的决定。只有在可能在无法在未来的监视,使用预防策略或其他医疗干预措施时,可能只向儿童和年轻人提供给儿童和年轻人。在童年时期可能发展的情况下,在没有实施监督或风险降低措施的情况下,遗传卫生专业人员和父母/监护人应该讨论是否是儿童和整个家庭的最佳行动方案。在成年期可能发展症状,默认位置应该是推迟预测测试,直到年轻人实现自主和知情决定的能力。

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