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儿科基因检测中的伦理问题。

Ethical issues with genetic testing in pediatrics.

出版信息

Pediatrics. 2001 Jun;107(6):1451-5. doi: 10.1542/peds.107.6.1451.

Abstract

Advances in genetic research promise great strides in the diagnosis and treatment of many childhood diseases. However, emerging genetic technology often enables testing and screening before the development of definitive treatment or preventive measures. In these circumstances, careful consideration must be given to testing and screening of children to ensure that use of this technology promotes the best interest of the child. This statement reviews considerations for the use of genetic technology for newborn screening, carrier testing, and testing for susceptibility to late-onset conditions. Recommendations are made promoting informed participation by parents for newborn screening and limited use of carrier testing and testing for late-onset conditions in the pediatric population. Additional research and education in this developing area of medicine are encouraged.

摘要

基因研究的进展有望在许多儿童疾病的诊断和治疗方面取得巨大进展。然而,新兴的基因技术往往能够在确定治疗或预防措施之前就进行检测和筛查。在这种情况下,必须仔细考虑对儿童进行检测和筛查,以确保这项技术的使用符合儿童的最大利益。本声明回顾了在新生儿筛查、携带者检测以及迟发性疾病易感性检测中使用基因技术的相关考虑因素。提出了一些建议,以促进父母在新生儿筛查中的知情参与,并限制在儿科人群中进行携带者检测和迟发性疾病检测的使用。鼓励在这一医学发展领域进行更多的研究和教育。

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