Understanding Disparities in Genomic Medicine

项目摘要/摘要 基因组测序和分析技术的进步使分子诊断成为可能 许多患有罕见疾病的个人和家庭。发现这些诊断可能会为 更好的治疗，甚至是治愈，除了减轻压力和增强医疗能力 决策。然而，获得基因组测序的机会并不公平，这导致了 对罕见疾病的基因组图景和艾滋病的潜在益处缺乏了解 基因组医学除了有限的洞察力外，还必须考虑增加 进入。稀有基因组计划(RGP)是在布罗德研究所建立的，目的是 使用基因组测序为罕见疾病的个人和家庭提供便利的基因诊断 并导致许多诊断涉及已有的和新的疾病基因。 尽管RGP确实允许比其他情况下更多地访问基因组测序 通过临床途径，RGP研究参与者绝大多数是白人， 资源丰富，受教育程度高，家庭收入高。这一项目旨在 通过RGP进一步扩大获得基因组测序的机会，以获得历史上服务不足的和/或 以一种创新的方法将人口小型化，直接针对通过 我们的理论框架，以确定对不同的参与者群体的诊断 罕见病(目标1)。我们还将对实施的过程和背景有重要的了解 在服务不足的人群中使用从我们的 概念框架(目标2)。最后，我们还将研究追求基因组的动机。 测序和基因诊断在服务不足/小型化人群中的影响(目标 3)。综上所述，这些结果将为未来整合基因组的公平方法提供信息。 将医学转化为临床实践。

Project Summary/Abstract Advances in genomic sequencing and analysis techniques have enabled the molecular diagnosis of many individuals and families with rare disease. Finding these diagnoses may pave the way to better treatments or even cures, in addition to decreasing stress and empowering medical decision-making. However, access to genomic sequencing has not been equitable which has led to poor understanding of the genomic landscape of rare diseases and of the potential benefit of genomic medicine in addition to limited insight into factors necessary consider in increasing access. The Rare Genomes Project (RGP) was established at the Broad Institute in order to facilitate genetic diagnosis using genome sequencing for individuals and families with rare disease and has resulted in many diagnoses involving both established and novel disease genes. Though RGP does allow for more access to genome sequencing than would otherwise be possible through clinical routes, the RGP study participants have been overwhelmingly white, well-resourced, and with high educational and household income status. This project seeks to further expand access to genome sequencing through RGP to historically underserved and/or minoritized populations in an innovative approach that directly targets barriers identified through our theoretical framework in order to identify diagnoses for a diverse group of participants with rare disease (Aim 1). We will also gain critical insight into the process and context of implementing genomic medicine in underserved populations using outcomes measures derived from our conceptual framework (Aim 2). Finally, we will also examine motivations for pursuing genome sequencing and the impact of a genetic diagnosis in underserved/minoritized populations (Aim 3). Taken together, these results will inform future equitable approaches to incorporate genomic medicine into clinical practice.