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

项目摘要/摘要 本附录扩展了父母补助金，这是一项对家庭级实用工具的ELSI综合评估 儿科基因组测序(R00HG011491)，明确和有意义地考虑种族和民族 对在目标2中收集的选择数据进行建模，并选择参数值以填充决策 它还支持候选人泰勒·蒙哥马利的培训和指导，具备以下技能 从事研究基因组药物对人群健康影响的职业。该计划的总体目标 建议的研究是了解是否以及如何偏爱临床GS，以及如何治疗 新生儿和儿科患者因种族和民族而不同。该研究计划有两个具体目标。首先，我们 将评估按种族和民族对儿科基因组测序偏好的异质性，包括 在已发表的离散文献中检验按种族和民族考虑偏好异质性的方法 选择实验，并检查偏好是否以及如何根据种族和民族而不同 通过离散选择实验收集的原始数据在父母助学金中进行。第二，我们将审查 基因组测序的临床结果是否以及如何因种族和民族不同而不同 在一家大型转诊医院维护数据库。这项研究将对基因组领域产生影响 医学通过告知伦理实施GS来改善人口健康。此外，她还说。 蒙哥马利将在文献综述方法、定量方法方面获得正式培训和指导 卫生经济学和政策，基因医学，以及手稿写作和口头和海报 演讲技巧。在完成拟议的培训和研究计划后，蒙哥马利女士将- 准备开始攻读博士学位，从事公共卫生和基因组学政策研究。

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.