My Diagnostic Odyssey-A Call to Expand Access to Genomic Testing for the Next Generation
My Diagnostic Odyssey-A Call to Expand Access to Genomic Testing for the Next Generation
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DOI：
10.1002/hast.882
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发表时间：
2018-07-01
影响因子：
3.3
通讯作者：
Michelson, Jeremy
中科院分区：
文献类型：
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作者：
Michelson, Jeremy
我参加了NSIGHT伦理和政策咨询委员会关于新生儿测序的会议，作为加州大学旧金山弗朗西斯科人类遗传学研究所和该大学生物伦理学项目之间联合学徒的研究助理。但我也是带着一个深刻的个人观点来参加会议的：我几乎把整个童年都花在了寻找诊断上，因此渴望听到董事会关于如何在道德上将基因组测序纳入生命早期的讨论。新生儿时期的基因组测序本可以帮助我避免诊断上的冒险，因为它可以在我出生后不久就揭示出我的病情的原因。
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.