Understanding Disparities in Genomic Medicine

项目总结/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。找到这些诊断可能会为 更好的治疗甚至治愈，除了减少压力和增强医疗能力之外， 决策的然而，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景观以及对 基因组医学除了有限的洞察力，必要考虑的因素，在增加 access.罕见基因组计划（RGP）是在布罗德研究所建立的， 使用基因组测序为患有罕见疾病的个人和家庭提供基因诊断 疾病，并导致了许多诊断，涉及既定的和新的疾病基因。 尽管RGP确实比其他方式允许更多的基因组测序 通过临床途径，RGP研究的参与者绝大多数是白色， 资源充足，教育程度高，家庭收入高。本项目谋求 进一步扩大通过RGP获得基因组测序的机会，使历史上得不到充分服务的人和/或 以创新的方式直接针对通过以下方式确定的障碍， 我们的理论框架，以确定诊断的不同群体的参与者， 罕见病（Aim 1）。我们还将深入了解实施的过程和背景， 基因组医学在服务不足的人群中使用来自我们的 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/少数群体中的影响（Aim 3）。总的来说，这些结果将为未来将基因组 医学进入临床实践。

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.