Andersen Janne Bayer, Diness Birgitte Rode, Brøndum-Nielsen Karen
Klinisk Genetisk Klinik, Kennedy -Centret, Gamle Landevej 7, 2600 Glostrup.
Ugeskr Laeger. 2014 Dec 22;176(52).
Presymptomatic genetic testing in minors is subject to debate. We reviewed guidelines on the subject from four large medical genetics societies. A general consensus exists regarding presymptomatic testing with the main justification for such testing being the direct benefit to the child through medical intervention or preventive measures. The child's best interest is central, but there is disagreement as to whether psychosocial and familial aspects should be included in this concept. Empirical evidence is lacking. We recommend increased awareness regarding the complexity of this issue.
对未成年人进行症状前基因检测存在争议。我们回顾了四个大型医学遗传学协会关于该主题的指南。对于症状前检测存在普遍共识，进行此类检测的主要理由是通过医疗干预或预防措施直接使儿童受益。儿童的最大利益是核心，但对于心理社会和家庭方面是否应纳入这一概念存在分歧。缺乏实证证据。我们建议提高对该问题复杂性的认识。
