诱导父母的偏好和价值观,以便从基因组测序中返回额外的发现
Ilias Goranitis1,2,3, Yan Meng4, Melissa Martyn5,6,7
1Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, Australia. ilias.goranitis@unimelb.edu.au.
NPJ genomic medicine
|February 14, 2024
概括
父母重视通过清晰的沟通道,及时的专家访问和安全更新获得额外的基因组发现 (AF) 结果. 这项研究估计了对罕见疾病家族的AF分析的经济价值.
科学领域:
- 基因组医学是基因组医学.
- 卫生经济学 卫生经济学
- 罕见疾病 罕见疾病
背景情况:
- 针对罕见疾病的基因组测序可以确定具有潜在健康影响的额外发现 (AF).
- 需要证据来指导成本效益的流程,以便将这些AF结果返还给家庭.
- 父母的偏好对于设计可接受和有价值的AF返回流程至关重要.
研究的目的:
- 为了引起父母对返回额外基因组发现 (AF) 结果的过程的偏好.
- 为了估计父母对罕见疾病基因组测序中的AF分析的经济价值.
- 为设计高价值,具有成本效益的AF返回策略提供信息.
主要方法:
- 对94名患有罕见疾病儿童的父母进行了离散选择实验.
- 参与者在1128个场景中进行了选择,评估了不同的AF返回过程属性.
- 经济价值的估计是基于对AF分析的声明偏好.
主要成果:
- 父母优先考虑改变AF决策的能力,遗传咨询师亲自提供积极结果,及时访问专家.
- 偏好还包括高质量的在线资源,自动安全更新和更低的成本.
- 据估计,每人平均AF分析价值在450~1700澳元 (300~1140美元) 之间,吸收率为50~95%.
结论:
- 父母的偏好可以指导开发价值最大化的流程,以返回额外的基因组发现.
- 了解这些偏好是提高基因组测序在罕见疾病中的成本效益和实用性的关键.
- 这项研究为优化AF返回策略提供了重要的健康经济证据.
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