Hayeems Robin Z, Luca Stephanie, Assamad Daniel, Bhatt Ayushi, Ungar Wendy J
Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Institute of Health Policy Management and Evaluation, The University of Toronto, Toronto, ON M5T 3M6, Canada.
Children (Basel). 2021 Mar 27;8(4):259. doi: 10.3390/children8040259.
In genomics, perceived and personal utility have been proposed as constructs of value that include the subjective meanings and uses of genetic testing. Precisely what constitutes these constructs of utility and how they vary by stakeholder perspective remains unresolved. To advance methods for measuring the value of genetic testing in child health, we conducted a scoping review of the literature to characterize utility from the perspective of parents/caregivers. Peer reviewed literature that included empiric findings from parents/caregivers who received genetic test results for an index child and was written in English from 2016-2020 was included. Identified concepts of utility were coded according to Kohler's construct of personal utility. Of 2142 abstracts screened, 33 met inclusion criteria. Studies reflected a range of genetic test types; the majority of testing was pursued for children with developmental or neurodevelopmental concerns. Coding resulted in 15 elements of utility that mapped to Kohler's four domains of personal utility (affective, cognitive, behavioural and social) and one additional medical management domain. An adapted construct of utility for parents/caregivers may enable specific and standardized strategies for researchers to use to generate evidence of the post-test value of genetic testing. In turn, this will contribute to emerging methods for health technology assessment and policy decision making for genomics in child health.
在基因组学中，感知效用和个人效用被认为是价值的构成要素，其中包括基因检测的主观意义和用途。这些效用构成要素的确切内容以及它们如何因利益相关者的视角而有所不同，仍未得到解决。为了推进衡量儿童健康基因检测价值的方法，我们对文献进行了范围综述，以从父母/照顾者的角度描述效用特征。纳入了2016年至2020年期间发表的、经过同行评审的文献，这些文献包含了为索引儿童接受基因检测结果的父母/照顾者的实证研究结果，且以英文撰写。根据科勒的个人效用构建对所确定的效用概念进行编码。在筛选的2142篇摘要中，有33篇符合纳入标准。研究反映了一系列基因检测类型；大多数检测是针对有发育或神经发育问题的儿童进行的。编码产生了15个效用要素，这些要素映射到科勒个人效用的四个领域（情感、认知、行为和社会）以及一个额外的医疗管理领域。为父母/照顾者量身定制的效用构建可能会为研究人员提供具体且标准化的策略，以便他们用于生成基因检测后价值的证据。反过来，这将有助于为儿童健康基因组学的卫生技术评估和政策决策形成新的方法。
