Friedman Jan M, Cornel Martina C, Goldenberg Aaron J, Lister Karla J, Sénécal Karine, Vears Danya F
Department of Medical Genetics, University of British Columbia, Vancouver, Canada.
Child & Family Research Institute, Vancouver, Canada.
BMC Med Genomics. 2017 Feb 21;10(1):9. doi: 10.1186/s12920-017-0247-4.
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.
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.
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.
The best interests of children should be the basis for all decisions regarding the implementation of genomic newborn screening.
与目前相比，使用全基因组（整个基因组或外显子组）测序进行基于人群的新生儿筛查，为检测、治疗或预防更多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监管与伦理工作组的儿科任务小组回顾了目前对于将基因组技术用于基于人群的新生儿筛查的理解和担忧，并经协商一致为临床医生、临床实验室科学家和政策制定者制定了八项建议。
在新生儿筛查项目中实施全基因组测序之前，必须证明其临床效用和成本效益，并且必须确定区分所有筛查基因的致病和良性变异的能力。此外，每个司法管辖区都需要解决有关向家庭披露偶然或次要发现以及基因组数据的所有权、适当存储和共享的伦理和政策问题。
儿童的最大利益应作为所有关于实施基因组新生儿筛查决策的基础。
