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Human Genetics Society of Australasia Position Statement: Predictive and Presymptomatic Genetic Testing in Adults and Children
Twin Research and Human Genetics ( IF 1.0 ) Pub Date : 2020-07-08 , DOI: 10.1017/thg.2020.51
Danya F Vears 1, 2 , Samantha Ayres 3, 4, 5 , Jackie Boyle 6 , Julia Mansour 7 , Ainsley J Newson 8 ,
Affiliation  

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 a direct medical benefit to 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.

中文翻译:

澳大利亚人类遗传学会立场声明:成人和儿童的预测性和症状前基因检测

2020 年,澳大利亚人类遗传学会发布了关于成人和儿童预测性和症状前基因检测的立场声明。本立场声明综合了与有能力做出决定的成年人、缺乏能力的儿童和年轻人以及能力下降或波动的成年人的症状前和预测性基因检测相关的主要实际、社会心理和伦理考虑。建议包括对成人、年轻人和儿童的预测性检测应仅提供检测前遗传咨询和检测后遗传咨询选项。还应支持考虑(为自己或代表他人)是否进行预测性测试的个人,以使他们能够做出自主和明智的决定。直接医疗福利在不久的将来通过监测、使用预防策略或其他医疗干预措施向他们提供信息。在儿童时期可能出现症状的情况下,如果没有实施监测或降低风险措施的选择,遗传健康专业人员和父母/监护人应讨论进行预测性检测是否是对儿童和整个家庭的最佳行动方案. 在成年后可能出现症状的情况下,默认位置应该是推迟预测性测试,直到年轻人能够做出自己的自主和知情决定。
更新日期:2020-07-08
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