How should whole-genome sequencing be implemented in children? A consideration of the current limitations

被引：1

作者：

Char, Danton S. ^{[1
]}

机构：

[1] Stanford Univ, Med Ctr, Dept Anesthesiol, Sch Med,Div Pediat Cardiac Anesthesia, Stanford, CA 94305 USA

来源：

PERSONALIZED MEDICINE | 2016年 / 13卷 / 01期

关键词：

bioethics; child; genetics; genetic testing; genomics; medical; pediatrics; whole-genome sequencing; TANDEM MASS-SPECTROMETRY; CRITICALLY-ILL INFANTS; CLINICAL-APPLICATION; INCIDENTAL FINDINGS; DISEASE; EXOME; CHALLENGES; HEALTH; IDENTIFICATION; DISORDERS;

D O I：

10.2217/pme.15.44

中图分类号：

R9 [药学];

学科分类号：

1007 ;

摘要：

In children, whole-genome sequencing (WGS) is envisioned as a tool to improve diagnosis of undiagnosed diseases and to improve population-based screening. Pilot applications have shown benefits: genomic information has been used as a diagnostic aid; pharmacogenomics can reduce medicine-related adverse events; advanced knowledge of the potential for later-onset disease can target tests and appropriate therapies. However, emerging technical, conceptual and ethical challenges may limit WGS from fulfilling the current vision for future applications. WGS platforms still struggle with reliability and accuracy. The role of the genome in long-term organismal function and disease is still being established. Ethical implications of WGS in both undiagnosed disease and population screening, particularly potential impacts of testing on children and their families are still unresolved.

引用

页码：33 / 42

页数：10

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