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新生儿筛查中可治疗与不可治疗病症之间模糊的区分。

The blurred distinction between treatable and untreatable conditions in newborn screening.

作者信息

Bailey Donald B

机构信息

RTI (Research Triangle Institute) International, USA.

出版信息

Health Matrix Clevel. 2009 Winter;19(1):141-53.

Abstract

Newborn screening is increasingly possible for conditions that do not have medical treatments that must be provided early in order to be effective. This raises a fundamental question of what information should be disclosed to parents. Historically the potential for treatment has been essential before conditions are included in newborn screening. Here I argue that the distinction between treatable and untreatable conditions is not a clear one and may be less useful in the future. I give examples of treatments that could be used even with "untreatable" conditions, envision a possible future of newborn screening, and suggest research and policy questions that need to be answered quickly so that screening can expand in a rational fashion.

摘要

对于那些没有必须在早期提供才能有效的医学治疗方法的病症,新生儿筛查越来越可行。这就引出了一个根本问题:应该向家长披露哪些信息。从历史上看,在病症被纳入新生儿筛查之前,治疗的可能性至关重要。在此我认为,可治疗病症和不可治疗病症之间的区分并不明确,而且在未来可能用处更小。我列举了即使针对“不可治疗”病症也可采用的治疗方法的例子,设想了新生儿筛查可能的未来,并提出了需要迅速回答的研究和政策问题,以便筛查能够以合理的方式扩大。

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