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secondary genomic findings in the 2020 China Neonatal Genomes Project participants

World Journal of Pediatrics 2022年第10期18卷 687-694页

作者： Hui Xiao Jian-Tao Zhang Xin-Ran Dong Yu-Lan Lu Bing-Bing Wu Hui-Jun Wang Zheng-Yan Zhao Lin Yang Wen-Hao Zhou Department of Neonatology Children’s Hospital of Fudan UniversityShanghaiChina Center for Molecular Medicine Children’s Hospital of Fudan UniversityShanghaiChina Department of Child Health Care Children’s HospitalZhejiang University School of MedicineHangzhouChina Department of Pediatric Endocrinology and Inherited Metabolic Diseases Children’s Hospital of Fudan UniversityShanghaiChina

Background During next generation sequencing(NGS)data interpretation in critically ill newborns,there is a potential for recognizing and reporting secondary findings(SFs).Early awareness of SFs may provide clues for disease *** this study,we assessed the frequency of SFs in the China Neonatal Genomes Project(CNGP)*** A total of 2020 clinical exome sequencing(CES)datasets were screened for variants from a list of 59 genes recommended by the American College of Medical genetics and Genomics(ACMG)for secondary findings reporting v2.0(ACMG SF v2.0).Identified variants were classified according to the evidence-based guidelines reached by a joint consensus of the ACMG and the Association for Molecular Pathology(AMP).Results Among the 2020 CES datasets,we identified 23 ACMG-reportable genes in 61 individuals,resulting in an overall frequency of SFs at 3.02%.A total of 53 unique variants were identified,including 35 pathogenic and 18 likely pathogenic *** common disease categories of SFs associated were cardiovascular and cancer *** SF results affected the medical management and follow-up strategy in 49(80.3%)*** We presented the frequency of SFs and their impact on clinical management strategies in CNGP *** study demonstrated that SFs have important practical value in disease prevention and intervention at an early stage.

关键词： genetics secondary findings Neonate Next generation sequencing

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