South-seq: DNA sequencing for newborn nurseries in the South

项目摘要 哈德逊·阿尔法生物技术研究所 这项提案的目标是使用全基因组测序(Wgs)来诊断不同类型疾病的新生儿。 在南方腹地的背景，增加患者和提供者对基因组测试的熟悉，并 提供和评估资源，以促进临床基因组检测的扩大利用。这个项目 将是基因组研究人员和哈德逊·阿尔法研究所教育工作者之间的合作 阿拉巴马大学伯明翰分校的生物技术、临床医生和成果专家， 密西西比大学医学中心和德鲁伊市医院，以及密西西比大学的研究人员 路易斯维尔对返回基因结果的伦理、法律和社会后果感兴趣。2000名婴儿 有迹象表明遗传疾病正在新生儿重症监护病房(NICU)接受治疗 非洲裔美国人和农村人口具有很高的代表性，将被录取。WGS将用于识别 这些婴儿的DNA致病变异。利益相关者，包括家长、临床医生和社区 领导，将致力于开发适应文化的教育材料和装备非遗传学 提供程序返回WGS结果。家长将通过一个门户网站，即 基因组网关，并将被放置在两个手臂中的一个随机试验中，以比较其有效性 由非遗传学提供者提供的技术辅助的WGS结果交付相对于来自遗传学的结果交付 辅导员。将进行医疗成本分析，以比较接受WGS的儿童与 没有这样做的对照儿童。最终目标将用于传播研究结果和收集反馈 来自关键利益攸关方的支持，以促进临床测序技术的采用和更广泛的获取。本研究 将解决不同种族/民族在参与基因组研究方面的差异，并需要 教育支持，以促进朝着更安全、更有效和更公平分布的基因组方向发展 医药。 的

Project Summary HudsonAlpha Institute for Biotechnology The goal of this proposal is to use whole genome sequencing (WGS) to diagnose ill neonates of diverse backgrounds in the Deep South, to increase patient and provider familiarity with genomic testing, and to provide and evaluate resources to facilitate the expanded utilization of clinical genomic testing. This project will be a collaboration between genomic researchers and educators at the HudsonAlpha Institute for Biotechnology, clinicians and outcomes experts at the University of Alabama at Birmingham, clinicians at the University of Mississippi Medical Center and Druid City Hospital, and investigators at the University of Louisville interested in the ethical, legal, and social consequences of returning genetic results. 2,000 infants with signs suggestive of a genetic disorder being treated at a neonatal intensive care unit (NICU) in which African-American and rural populations are highly represented will be enrolled. WGS will be used to identify pathogenic variation in DNA from these infants. Stakeholders, including parents, clinicians, and community leaders, will be engaged to develop culturally adapted educational materials and to equip non-genetics providers to return WGS results. Parents will be provided with these materials through a web portal, the Genome Gateway, and will be placed into one of two arms of a randomized trial to compare the effectiveness technology-assisted WGS result delivery by non-genetics providers relative to result delivery from genetic counselors. A health care cost analysis will be conducted to compare children who received WGS relative to comparator children who did not. The final aim will serve to disseminate study findings and gather feedback from key stakeholders to promote uptake and broader access to clinical sequencing technologies. This study will address discrepancies in participation in genomic research by diverse racial/ethnic groups and the need for educational support to facilitate progress towards safer, more effective, and more equitably distributed genomic medicine. of