我们准备好对无症状新生儿进行全群体基因组测序了吗?

IF 1.8 4区 医学 Q3 PHARMACOLOGY & PHARMACY Pharmacogenomics & Personalized Medicine Pub Date : 2023-01-01 DOI:10.2147/PGPM.S376083
Danya F Vears, Julian Savulescu, John Christodoulou, Meaghan Wall, Ainsley J Newson
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引用次数: 3

摘要

以某种形式将基因组测序技术引入常规新生儿筛查计划不仅是不可避免的,而且已经在某些情况下发生了。因此,问题不是“是否”,而是“何时以及如何”实施新生儿基因组筛查。2022年4月,儿科基因组学伦理中心举行了为期一天的研讨会,探讨与在一系列临床环境中使用基因组测序有关的伦理问题。这篇综述文章综合了小组讨论,并提出了大规模实施新生儿基因组筛查的潜在好处,以及它的实际和伦理问题,包括获得适当的同意,以及卫生系统的影响。更深入地了解与实施新生儿基因组筛查相关的障碍对于GNBS计划的成功至关重要,无论是从实际的角度来看,还是为了保持公众对一项重要公共卫生倡议的信任。
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Are We Ready for Whole Population Genomic Sequencing of Asymptomatic Newborns?

The introduction of genomic sequencing technologies into routine newborn screening programs in some form is not only inevitable but also already occurring in some settings. The question is therefore not "if" but "when and how" genomic newborn screening (GNBS) should be implemented. In April 2022, the Centre for Ethics of Paediatric Genomics held a one-day symposium exploring ethical issues relating to the use of genomic sequencing in a range of clinical settings. This review article synthesises the panel discussion and presents both the potential benefits of wide-scale implementation of genomic newborn screening, as well as its practical and ethical issues, including obtaining appropriate consent, and health system implications. A more in-depth understanding of the barriers associated with implementing genomic newborn screening is critical to the success of GNBS programs, both from a practical perspective and also in order to maintain public trust in an important public health initiative.

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来源期刊
Pharmacogenomics & Personalized Medicine
Pharmacogenomics & Personalized Medicine Biochemistry, Genetics and Molecular Biology-Molecular Medicine
CiteScore
3.30
自引率
5.30%
发文量
110
审稿时长
16 weeks
期刊介绍: Pharmacogenomics and Personalized Medicine is an international, peer-reviewed, open-access journal characterizing the influence of genotype on pharmacology leading to the development of personalized treatment programs and individualized drug selection for improved safety, efficacy and sustainability. In particular, emphasis will be given to: Genomic and proteomic profiling Genetics and drug metabolism Targeted drug identification and discovery Optimizing drug selection & dosage based on patient''s genetic profile Drug related morbidity & mortality intervention Advanced disease screening and targeted therapeutic intervention Genetic based vaccine development Patient satisfaction and preference Health economic evaluations Practical and organizational issues in the development and implementation of personalized medicine programs.
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