Genomic newborn screening: public health policy considerations and recommendations
Genomic newborn screening: public health policy considerations and recommendations
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DOI：
10.1186/s12920-017-0247-4
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发表时间：
2017-02-21
影响因子：
2.7
通讯作者：
Vears, Danya F.
中科院分区：
文献类型：
--
作者：
Friedman, Jan M.;Cornel, Martina C.;Vears, Danya F.
背景资料：使用全基因组用于基于人群的新生儿筛查的全基因组（全基因组或外显子组）测序为检测和治疗或预防许多比今天可能的更严重的早发性健康状况提供了机会。全球基因组学与健康联盟的监管和伦理工作组儿科工作组审查了目前对基因组技术用于人口的理解和关切，基于新生儿筛查和开发，通过协商一致，八个建议，为临床医生，临床实验室科学家，和policymasters.Results：前全基因组测序可以在新生儿筛查计划中实施，其临床效用和成本效益必须得到证明，并有能力区分致病和良性变异的所有基因筛选必须建立。此外，每个司法管辖区需要解决的伦理和政策问题，关于披露的偶然或次要的结果，家庭和所有权，适当的存储和共享的基因组data.Conclusion：儿童的最佳利益应该是所有决定的基础上，关于实施基因组新生儿筛查。
Background: The use of genome-wide (whole genome or exome) sequencing for population-based newborn screening presents an opportunity to detect and treat or prevent many more serious early-onset health conditions than is possible today.Methods: The Paediatric Task Team of the Global Alliance for Genomics and Health's Regulatory and Ethics Working Group reviewed current understanding and concerns regarding the use of genomic technologies for population-based newborn screening and developed, by consensus, eight recommendations for clinicians, clinical laboratory scientists, and policy makers.Results: Before genome-wide sequencing can be implemented in newborn screening programs, its clinical utility and cost-effectiveness must be demonstrated, and the ability to distinguish disease-causing and benign variants of all genes screened must be established. In addition, each jurisdiction needs to resolve ethical and policy issues regarding the disclosure of incidental or secondary findings to families and ownership, appropriate storage and sharing of genomic data.Conclusion: The best interests of children should be the basis for all decisions regarding the implementation of genomic newborn screening.