Training Program in Genomic Medicine

 描述(由申请人提供)：犹他大学健康科学(UUHS)T32基因组医学培训计划将培养医生和基础科学家成为基因组医学的领导者。在基因组学培训的良好机构记录的基础上，为期两年的基础研究轨道培训计划包括课程作业、有指导的研究经验、与广泛的基因组医学研究人员社区的广泛互动以及职业发展活动。课程包括遗传学、统计学、流行病学、数据管理和临床试验设计方面的基础培训。两门新设计的课程侧重于基因组医学的关键方面。其中一个探讨了基因组医学的伦理、法律和社会影响(ELSI)，包括向研究参与者传达基因组信息的挑战。另一门是教授在研究和临床环境中应用计算工具进行疾病基因发现、患者基因组解释和大数据管理的实用技能。在团队科学环境中的指导研究经验是培训计划的核心。每个学员将有一个多学科指导委员会，从33名医学和博士基因组医学研究人员的指导库中挑选出来。这个高度合作的导师社区拥有许多支撑基因组医学的学科的专业知识，包括人类遗传学、生物信息学、流行病学、统计学、分子诊断学和药物基因组学。研究经验将包括在临床和诊断实验室环境中有组织地接触到基因组药物的实际应用。受训者将受益于几个独特的资源：犹他州基因组计划，这是一个独立资助的研究项目，数千名犹他州疾病大型家系成员正在进行全基因组测序；ARUP实验室，该大学的国家参考实验室，也是开发基于基因组的临床诊断测试的领先者；以及四家UUHS医院，致力于整合基因组医学以改善医疗保健。每一项都将提供沉浸在基因组医学中的机会。T32计划的总体目标是：教授学员如何应用尖端生物信息学和计算工具分析基因组数据集；使用基因组医学数据标准促进基因组数据与电子健康记录的整合；在基因组数据的临床应用方面与跨学科团队进行富有成效的合作；与基因组医学研究中的人类参与者进行有效沟通；以及推进基因组医学的独立研究事业。培训方案将在第一年有三个培训时段，在第二到第五年有六个培训时段，总共培训15人 医学博士和博士学位。学员成果数据将被跟踪，最佳实践和课程材料将在NHGRI培训网络中传播，以帮助培养能够在研究和临床实践中无缝集成基因组医学的所有方面的基础和临床科学家。

 DESCRIPTION (provided by applicant): The University of Utah Health Sciences (UUHS) T32 Training Program in Genomic Medicine will prepare physicians and basic scientists to be leaders in genomic medicine. Building on a strong institutional record of training in genomics, the two-year basic research track training program consists of coursework, a mentored research experience, extensive interactions with a broad community of genomic medicine researchers, and career development activities. The coursework includes foundational training in genetics, statistics, epidemiology, data management, and clinical trial design. Two newly designed courses focus on key aspects of genomic medicine. One explores the ethical, legal and social implications (ELSI) of genomic medicine, including the challenges of communicating genomic information to research participants. The other teaches practical skills for applying computational tools for disease-gene discovery, patient genome interpretation, and big data management in research and clinical settings. A mentored research experience in a team science environment is the heart of the training program. Each trainee will have a multidisciplinary mentoring committee, drawn from a mentor pool of 33 MD and PhD genomic medicine researchers. This highly collaborative mentor community possesses expertise in the many disciplines that underpin genomic medicine, including human genetics, bioinformatics, epidemiology, statistics, molecular diagnostics, and pharmacogenomics. The research experiences will include structured exposure to practical applications of genomic medicine in both clinical and diagnostic laboratory settings. Trainees will benefit from several unique resources: the Utah Genome Project, an independently funded research project in which thousands of members of large Utah disease pedigrees are undergoing whole-genome sequencing; ARUP Laboratories, the University's national reference lab and a leader in developing genomics-based clinical diagnostic tests; and four UUHS hospitals committed to integrating genomic medicine to improve health care. Each of these will provide immersion opportunities in genomic medicine. The overall goals of the T32 program are: to teach trainees to apply cutting-edge bioinformatics and computational tools to analyze genomic datasets; to use genomic medicine data standards to facilitate integration of genomic data into electronic health records; to work productively with interdisciplinary teams in the clinical application of genomic data; to communicate effectively with human participants in genomic medicine research; and to advance an independent research career in genomic medicine. The training program will have three training slots in year 1 and six slots in years 2-5, to train a total of 15 MDs and PhDs. Trainee outcomes data will be tracked, and best practices and course materials will be disseminated across the NHGRI training network to help to produce basic and clinical scientists who can seamlessly integrate all aspects of genomic medicine in their research and clinical practice.