Preconception carrier screening: providing genetically at risk families with a chance to have healthy children

孕前携带者筛查：为有遗传风险的家庭提供生育健康孩子的机会

• 批准号: nhmrc : GNT1146134
• 负责人: A/Pr Marcel Dinger
• 金额: $ 84.58万
• 依托单位: Macquarie University
• 依托单位国家: 澳大利亚
• 项目类别: Partnerships
• 财政年份: 2017
• 资助国家: 澳大利亚
• 起止时间: 2017-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/preconception-carrier-screening-healthy-children/1348741
• 关键词: Preconception; carrier; screening; providing; genetically

Current preconception carrier screening is not widely accessible and has no public funding. We will develop a model of the social and economic impacts of genetic disorders on families and government and the cost of a range of genomic technologies to determine the social and economic benefits that could be realised by the introduction of accessible and affordable preconception carrier screening using existing technologies: gene panels and advances in whole genome sequencing (WGS).

目前的孕前携带者筛查尚未广泛普及，也没有公共资金。我们将开发一个模型，展示遗传性疾病对家庭和政府的社会和经济影响以及一系列基因组技术的成本，以确定通过使用现有技术（基因组和全基因组测序（WGS）的进步）引入易于使用且负担得起的孕前携带者筛查可以实现的社会和经济效益。