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 该提案的目标是使用全基因组测序（WGS）来诊断各种疾病的新生儿。 在南方腹地的背景，以增加患者和提供者熟悉基因组检测，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 将是哈德逊阿尔法研究所的基因组研究人员和教育工作者之间的合作， 伯明翰亚拉巴马大学的生物技术、临床医生和结果专家， 密西西比大学医学中心和德鲁伊城市医院的研究人员， 路易斯维尔对归还基因结果的伦理、法律的和社会后果感兴趣。2 000名婴儿 有迹象表明遗传性疾病正在新生儿重症监护室（NICU）接受治疗，其中 非洲裔美国人和农村人口的代表性很高，将被招募。WGS将用于识别 这些婴儿DNA的致病性变异利益相关者，包括父母、临床医生和社区 领导人，将参与制定文化适应的教育材料，并装备非遗传学 提供商返回WGS结果。这些材料将通过一个门户网站提供给家长， 基因组网关，并将被放置到一个随机试验的两个武器之一，以比较有效性 非遗传学提供者的技术辅助WGS结果交付相对于遗传学提供者的结果交付 辅导员将进行医疗保健成本分析，比较接受WGS的儿童与 而对照组的孩子则没有。最终目的是传播研究结果和收集反馈 以促进临床测序技术的吸收和更广泛的使用。本研究 将解决不同种族/族裔群体参与基因组研究的差异， 教育支持，以促进更安全，更有效，更公平地分配基因组 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