基因组测序
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澳研究:新生儿足跟血基因测序有助于疾病早发现
Xin Hua Wang· 2025-10-11 06:32
Core Viewpoint - The inclusion of genomic sequencing in newborn screening can significantly enhance the detection of hundreds of disease risks, facilitating earlier diagnosis and treatment [1] Group 1: Research Findings - The study conducted by the Murdoch Children's Research Institute and Victoria's Clinical Genetics Service indicates that genomic sequencing can provide screening results for hundreds of treatable diseases within 14 days when added to the current heel prick test in Australia [1] - The research involved genomic sequencing of heel prick blood samples from 1,000 newborns in Victoria, examining 605 genes associated with early-onset, severe, and treatable diseases, revealing that 16 newborns had a higher likelihood of genetic diseases compared to only 1 detected through standard screening [1] - Currently, the Australian heel prick test covers 32 diseases, and the study suggests that genomic sequencing could expand the screening to include risks for cancers and undetectable heart and neurological diseases [1] Group 2: Parental Acceptance and Ethical Considerations - The acceptance level among parents for genomic sequencing is notably high, with 99.5% believing that such testing should be extended to all newborns [1] - Researchers caution that newborn genomic sequencing faces operational and ethical challenges, including costs, equity, data storage security, and decision-making rights for children as they grow [1]