澳大利亚父母对基因组新生儿查非传染性疾病的看法
Sarah Casauria1,2, Sharon Lewis1,3, Fiona Lynch1,4
1Murdoch Children's Research Institute, Melbourne, VIC, Australia.
Frontiers in genetics
|July 12, 2023
概括
澳大利亚父母对使用多基因风险评分 (PRS) 进行新生儿查感兴趣,以预防未来的非传染性疾病 (NCD). 虽然对PRS和精准医学的认识很低,但父母愿意接受各种非传染性疾病的查,并更喜欢生活方式干预.
科学领域:
- 基因组学就是基因组学.
- 公共卫生 公共卫生
- 儿科 儿科 儿科
背景情况:
- 自20世纪60年代以来,新生儿血点查 (NBS) 已经推进了新生儿护理.
- 基因组测序使得多基因风险得分 (PRS) 成为可能被纳入NBS.
- 这种转变的目的是积极预防非传染性疾病 (NCD),而不是仅仅治疗它们.
研究的目的:
- 评估澳大利亚家长对将PRS纳入NBS计划的知识和态度.
- 了解家长愿意为孩子接受PRS的意愿,以及他们喜欢的早期干预策略.
- 为未来关于基因组NBS实施和家长参与的政策提供信息.
主要方法:
- 一份在线问卷通过社交媒体分发给澳大利亚有18岁以下孩子的父母.
- 该调查考察了家长对非传染性疾病,PRS和精准医学的认识.
- 收集了参与者关于接受新生儿PRS和首选的预防干预措施的意见.
主要成果:
- 虽然90.5%的人承认"非传染性疾病",但对"多基因风险评分" (31.8%) 和"精准医学" (34.4%) 的认识很低.
- 人们对过敏 (77.9%),喘 (81.0%),癌症 (64.8%),心血管疾病 (65.7%),精神疾病 (56.7%),肥胖 (49.5%) 和2型糖尿病 (66.7%) 的PRS查表现出高度兴趣.
- 父母倾向于饮食和运动作为NCDs的主要干预措施.
结论:
- 尽管目前的认识很低,但父母对NBS中PRS的接受是有希望的.
- 了解父母对干预措施的偏好对于成功实施至关重要.
- 结果将指导澳大利亚基因组NBS的政策制定,重点关注采用和干预策略.
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