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述评:儿童与预测性基因检测:疾病预防、研究保护和我们的未来。

Commentary: Children and predictive genomic testing: disease prevention, research protection, and our future.

机构信息

Child Health Evaluation and Research Unit, Division of General Pediatrics, Department of Pediatrics & Communicable Diseases, University of Michigan, Ann Arbor 48109-5456, USA.

出版信息

J Pediatr Psychol. 2011 Nov-Dec;36(10):1113-21. doi: 10.1093/jpepsy/jsr040. Epub 2011 Aug 4.

Abstract

Genetic testing offered by direct-to-consumer companies-herein referred to as "predictive genomic testing"--has come under federal scrutiny. Critics claim testing yields uninterpretable and potentially harmful information. Supporters assert individuals have a right to this information, which could catalyze preventive health actions. Despite contentions that predictive genomic testing is a tool of primary disease prevention, little discussion has focused on its use with children. This partly stems from concerns expressed in existing professional guidelines about the potential for psychological and behavioral harm to children engendered by predictive genetic tests for Mendelian diseases. Conducting research to understand the actual benefits and harms is important for policy development and practice guidance and can be ethically justified within the pediatric regulatory framework of research that offers a prospect of direct benefit. Child health psychologists are well poised to contribute to this research effort, and promote the translation of genomic discoveries to improve pediatric medicine.

摘要

直接面向消费者的公司提供的基因检测——在此被称为“预测基因组检测”——已经受到联邦政府的审查。批评者声称,这种检测会产生无法解释且可能有害的信息。而支持者则声称个人有权获得这些信息,这可能会促使人们采取预防性的健康措施。尽管有人认为预测基因组检测是主要疾病预防的一种手段,但很少有人关注其在儿童中的应用。这在一定程度上是由于现有的专业指南中表达的担忧,即针对孟德尔疾病的预测性遗传检测可能会对儿童造成心理和行为伤害。开展研究以了解实际的益处和危害对于政策制定和实践指导很重要,并且在为儿童提供直接受益前景的儿科监管研究框架内,可以从伦理上证明其合理性。儿童健康心理学家非常适合为这项研究做出贡献,并促进基因组发现的转化,以改善儿科医学。

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