Heterogeneity of preferences for and outcomes of pediatric genomic sequencing by race and ethnicity

项目概要/摘要 该补充品扩展了家长补助金，即 ELSI 家庭层面效用综合评估 儿科基因组测序 (R00HG011491)，明确且有意义地考虑种族和民族 对目标 2 中收集的选择数据进行建模，并选择参数值来填充决策 目标 3 中的模型。它还支持对候选人泰勒·蒙哥马利 (Taylor Montgomery) 进行培训和指导，使其具备以下技能： 从事研究基因组医学对人口健康影响的职业。该项目的总体目标是 拟议的研究旨在了解临床 GS 的偏好和结果是否以及如何 新生儿和儿童患者因种族和民族而异。该研究计划有两个具体目标。首先，我们 将按种族和民族评估儿科基因组测序偏好的异质性，包括 检查已发表的离散数据中按种族和族裔考虑偏好异质性的方法 选择实验并使用以下方法检查偏好是否以及如何根据种族和民族而有所不同 通过母基金中的离散选择实验收集的主要数据。其次，我们将检查 基因组测序的临床结果是否以及如何因种族和民族的不同而不同 数据库维护在一家大型转诊医院。这项研究将对基因组学领域产生影响 通过告知 GS 的道德实施来改善人口健康。此外，女士 蒙哥马利将获得文献综述方法、定量方法方面的正式培训和指导 卫生经济学和政策、基因组医学以及手稿写作、口头和海报 演讲技巧。完成拟议的培训和研究计划后，蒙哥马利女士将很好地- 准备开始攻读博士学位课程，以从事基因组学公共卫生和政策研究的职业生涯。

Project Summary/Abstract This supplement extends the parent grant, An ELSI-Integrated Evaluation of the Family-Level Utility of Pediatric Genomic Sequencing (R00HG011491), to explicitly and meaningfully consider race and ethnicity in the modeling of choice data collected in Aim 2 and selection of parameter values to populate the decision model in Aim 3. It also supports training and mentorship of the candidate, Taylor Montgomery, with skills to pursue a career researching the impact of genomic medicine on population health. The overall goal of the proposed research is to understand whether and how preferences for, and outcomes of, clinical GS for newborn and pediatric patients differ by race and ethnicity. The research plan has two specific aims. First, we will evaluate heterogeneity of preferences for pediatric genomic sequencing by race and ethnicity, including examining methods for consideration of preference heterogeneity by race and ethnicity in published discrete choice experiments and examining whether and how preferences differ according to race and ethnicity using primary data collected through the discrete choice experiment in the parent grant. Second, we will examine whether and how clinical outcomes of genomic sequencing differ by race and ethnicity using a clinical database maintained at a large referral hospital. This research will have impact on the field of genomic medicine through informing ethical implementation of GS to improve population health. Additionally, Ms. Montgomery will obtain formal training and mentorship in literature review methods, quantitative methods in health economics and policy, and genomic medicine, as well as manuscript writing and oral and poster presentation skills. Upon completion of the proposed training and research plans, Ms. Montgomery will be well- positioned to begin a PhD program to pursue a career in public health and policy research in genomics.