Duncan R E, Delatycki M B
Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, Victoria, Australia.
Clin Genet. 2006 Jan;69(1):8-16; discussion 17-20. doi: 10.1111/j.1399-0004.2005.00505.x.
Predictive genetic testing in young people for severe, adult-onset conditions is advised against in current guidelines. Despite this, there has been considerable debate regarding the issue. Some perceive such testing as too potentially harmful to allow. Others perceive it as an opportunity for the promotion of benefit, an opportunity even for the prevention of harm. The only way to resolve this theoretical debate is to collect empirical data related to the effects of such testing when it occurs. However, more than 15 years after the debate began, there is virtually no such empirical evidence available. The reasons for this lack of evidence appear to relate to the rarity of such testing, which when it occurs is not studied systematically. Additionally, clinicians performing such tests may feel vulnerable in sharing the outcomes, given that such testing is contrary to current recommendations. We propose a way forward that entails the provision of tests to mature minors, where clinicians deem this appropriate. These tests should be performed as part of an international research collaboration, facilitated by one leading group.
当前指南不建议对年轻人进行针对严重成人期疾病的预测性基因检测。尽管如此，关于这个问题仍存在大量争论。一些人认为这种检测潜在危害太大，不应允许。另一些人则将其视为促进益处的机会，甚至是预防危害的机会。解决这一理论争论的唯一方法是收集与这种检测实际发生时的影响相关的实证数据。然而，在争论开始15年多后，几乎没有这样的实证证据。缺乏证据的原因似乎与这种检测的罕见性有关，检测发生时并未进行系统研究。此外，进行此类检测的临床医生在分享结果时可能会感到担忧，因为这种检测与当前建议相悖。我们提出了一条前进的道路，即当临床医生认为合适时，为成熟的未成年人提供检测。这些检测应作为由一个牵头小组推动的国际研究合作的一部分来进行。
