Goranitis Ilias, Meng Yan, Martyn Melissa, Best Stephanie, Bouffler Sophie, Bombard Yvonne, Gaff Clara, Stark Zornitza
Health Economics Unit, Centre for Health Policy, Melbourne School of Population and Global Health, University of Melbourne, Melbourne, VIC, Australia.
Australian Genomics, Melbourne, VIC, Australia.
NPJ Genom Med. 2024 Feb 14;9(1):10. doi: 10.1038/s41525-024-00399-8.
Health economic evidence is needed to inform the design of high-value and cost-effective processes for returning genomic results from analyses for additional findings (AF). This study reports the results of a discrete-choice experiment designed to elicit preferences for the process of returning AF results from the perspective of parents of children with rare conditions and to estimate the value placed on AF analysis. Overall, 94 parents recruited within the Australian Genomics and Melbourne Genomics programmes participated in the survey, providing preferences in a total of 1128 choice scenarios. Statistically significant preferences were identified for the opportunity to change the choices made about AF; receiving positive AF in person from a genetic counsellor; timely access to a medical specialist and high-quality online resources; receiving automatic updates through a secure online portal if new information becomes available; and lower costs. For AF uptake rates ranging between 50-95%, the mean per person value from AF analysis was estimated at AU$450-$1700 (US$300-$1140). The findings enable the design of a value-maximising process of analysis for AF in rare-disease genomic sequencing.
需要卫生经济学证据来为设计高价值且具有成本效益的流程提供信息，以便从额外发现（AF）分析中返回基因组结果。本研究报告了一项离散选择实验的结果，该实验旨在从患有罕见病儿童的父母的角度引出对返回AF结果过程的偏好，并估计对AF分析的重视程度。总体而言，在澳大利亚基因组学和墨尔本基因组学项目中招募的94位父母参与了调查，在总共1128个选择场景中提供了偏好。对于改变关于AF所做选择的机会；由遗传咨询师亲自告知阳性AF结果；及时获得医学专家和高质量在线资源；如果有新信息通过安全的在线门户自动接收更新；以及降低成本等方面，确定了具有统计学意义的偏好。对于50%-95%的AF接受率，AF分析的人均价值估计为450澳元至1700澳元（300美元至1140美元）。这些发现有助于设计一种在罕见病基因组测序中使AF分析价值最大化的流程。
