Expert consensus on clinical genome sequencing interpretation and reporting.
Genome sequencing (GS) refers to a technology that comprehensively and systematically detects the DNA sequences of an individual's nuclear and mitochondrial genomes. It aims to identify genetic variants and investigate their roles in human health and disease progression. As an emerging diagnostic tool, GS offers significant support for clinical diagnosis due to its high throughput, accuracy, and comprehensiveness. However, the complexity of data analysis and interpretation requires substantial professional expertise and experience, posing considerable challenges. When applying GS technology for molecular diagnosis of genetic diseases, ethical and technical issues related to clinical application arise, including informed consent, diagnostic data interpretation, and defining the scope and content of clinical reports. This expert consensus outlines the core workflow of clinical genome sequencing (cGS), clarifies its testing scope and technical limitations, and provides key steps for data quality control, analysis, annotation, and variant interpretation. It also addresses controversial issues related to report content and informed consent. This consensus aims to assist professionals in accurately understanding and appropriately utilizing clinical genome sequencing, thereby improving diagnostic accuracy for genetic diseases, enhancing the clinical utility of the technology, and advancing medical scientific research.
Authors
- Xinran Dong (ORCID: https://orcid.org/0000-0001-9868-8795)
- Kexin Xu (ORCID: https://orcid.org/0009-0007-0502-4430)
- Guozhuang Li (ORCID: https://orcid.org/0000-0002-0356-2418)
- Xiaoqiang Cai (ORCID: https://orcid.org/0000-0001-9829-5246)
- Huaxia Luo (ORCID: https://orcid.org/0000-0001-9944-0345)
- Nan Wu (ORCID: https://orcid.org/0000-0002-9429-2889)
- Ruifang Sui (ORCID: https://orcid.org/0000-0002-6659-0926)
- Yongyu Ye (ORCID: https://orcid.org/0000-0002-7941-4008)
- Yulan Lu (ORCID: https://orcid.org/0000-0003-3826-5998)
- Zhengqing Qiu (ORCID: https://orcid.org/0000-0002-2653-7485)
- Jing Peng (ORCID: https://orcid.org/0000-0001-7791-6373)
- Chanjuan Hao (ORCID: https://orcid.org/0000-0002-9220-8356)
- Li Jun Liu (ORCID: https://orcid.org/0009-0000-8347-8760)
- Yuanqiang Zhang (ORCID: https://orcid.org/0000-0002-4592-4966)
- Shangzhi Huang (ORCID: https://orcid.org/0000-0002-0393-0989)
- Linkang Li
- Jiaqi Liu (ORCID: https://orcid.org/0009-0004-6630-6405)
- Qing Li (ORCID: https://orcid.org/0000-0002-3666-9879)
- Huijun Wang (ORCID: https://orcid.org/0000-0002-8064-4564)
- Lin Yang (ORCID: https://orcid.org/0000-0003-4668-0083)
- Dan Guo
- Yaqiong Wang (ORCID: https://orcid.org/0000-0002-1447-7868)
- Ning Liu (ORCID: https://orcid.org/0000-0002-8282-5393)
- Yaping Liu (ORCID: https://orcid.org/0000-0002-1076-9046)
- Sen Zhao (ORCID: https://orcid.org/0000-0001-9418-4231)
- Ping Fang (ORCID: https://orcid.org/0000-0003-2327-7726)
- Fang Song (ORCID: https://orcid.org/0000-0003-1044-103X)
- Wenhao Zhou (ORCID: https://orcid.org/0009-0004-5544-6816)
- Luming Sun (ORCID: https://orcid.org/0000-0001-9457-7764)
- Bingbing Wu
- Jihao Cai (ORCID: https://orcid.org/0009-0007-2455-2642)
- Zefu Chen
- Jian Wang (ORCID: https://orcid.org/0009-0004-4420-1928)
- Hua Wang (ORCID: https://orcid.org/0000-0002-7319-6249)
Institutions
- Central South University (CN)
- Baylor College of Medicine (US)
- Shanghai Jiao Tong University (CN)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Peking University (CN)
- Peking Union Medical College Hospital (CN)
- Capital Institute of Pediatrics (CN)
- International Peace Maternity & Child Health Hospital (CN)
- Peking University First Hospital (CN)
- Children's Hospital of Fudan University (CN)
- Xiangya Hospital Central South University (CN)
Publication Details
- Journal
- PubMed
- Published
- 2025-03-01
- DOI
- https://doi.org/10.16288/j.yczz.24-296
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00