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我的诊断之旅——呼吁扩大下一代基因组检测的可及性。

My Diagnostic Odyssey-A Call to Expand Access to Genomic Testing for the Next Generation.

出版信息

Hastings Cent Rep. 2018 Jul;48 Suppl 2:S32-S34. doi: 10.1002/hast.882.

Abstract

I attended the NSIGHT Ethics and Policy Advisory Board's meeting on sequencing newborns as a research associate in a joint apprenticeship between the University of California, San Francisco, Institute for Human Genetics and the university's Program in Bioethics. But I also came to the meeting with a deeply personal perspective: I had spent nearly my entire childhood in search of a diagnosis and therefore was eager to hear the board's discussion on how to ethically include genomic sequencing early in life. Genomic sequencing in the newborn period could have helped me avoid my diagnostic odyssey by revealing the cause of my condition shortly after birth.

摘要

我以加利福尼亚大学旧金山分校人类遗传学研究所与该校生物伦理学项目联合学徒制研究助理的身份参加了 NSIGHT 伦理与政策顾问委员会的新生儿测序会议。但我也是带着强烈的个人视角参加会议的:我几乎整个童年都在寻求诊断,因此渴望听到委员会讨论如何在生命早期进行合乎伦理的基因组测序。如果新生儿时期进行基因组测序,可能会在我出生后不久就揭示出我疾病的原因,从而帮助我避免漫长的诊断探索。

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