NHGRI/DIR Clinical Support Services

NHGRI临床主任办公室以多种方式管理遗传学和基因组学的临床支持服务。 1.该办公室为从事罕见遗传病临床研究的医务人员提供广泛的行政支助。这包括卫生保健专业人员的资格认证，支持他们的州许可证，为急性护理提供者提供停车位，安排患者及其测试，安排临床测试合同，并为旅行，外部医疗测试，特别是基因测试提供报销。 2.该办公室还为临床研究人员提供学术支持和基础设施，包括为研究所制定政策，协助患者招募，通过电话，传真或电子邮件处理患者，医生和国会询问，提供有关临床方案编写的建议，通过机构审查委员会（IRB）批准系统跟踪方案，管理研究所临床方案的监测，建立和支持数据安全和监测委员会，每年安排两次会议，并为整个研究所建立和维持统计咨询服务。临床主任还监督行政人员以及研究所的研究护士和执业护士，并安排病房覆盖范围。临床总监对生物伦理核心和IRB进行财务和行政监督，科学审查委员会（SCR）在OCD之外运作。SRC在IRB提交之前审查临床方案的科学价值。今年，NHGRI IRB成为NIH范围内Medicine I IRB的一部分，并完成了数据系统从PTMS到IRIS的转移。 3. NHGRI临床主任通过为医院的政策制定做出贡献，参加医疗执行委员会的双周会议，并代表临床中心向贵宾提供支持。每个星期一，强迫症的成员进行纸轮的NHGRI患者看到在过去的一周和计划在未来一周。4. NHGRI OCD管理该研究所最近关于患者安全、方案监测、事件报告和数据管理的举措。在过去的一年里，OCD续签了临床数据库数据录入支持、方案监测和处理IND与FDA通信的合同。OCD还制定政策，并管理临床医生助理、助理或高级临床医生的分配。OCD对NHGRI全体临床工作人员的不良事件培训进行了验证，代理临床总监向NHGRI总监提交了季度报告。 5.临床主任办公室通过促进新的举措，如NIH未诊断疾病计划（与NIH临床中心合作），推进NHGRI的临床和转化研究。这一举措是精准医学的典范，为患有无法诊断的神秘疾病的患者提供了答案，并推动了医学知识的发展。Intramural UDP是未诊断疾病网络（UDN）的一部分，UDN是一个由12个临床站点，一个协调中心，测序中心，生物储存库，两个模式生物核心和一个代谢组学核心组成的国家联盟。在过去的10年里，NIH UDP审查了4000多份医疗记录，评估了1300多名患者，诊断了300多种罕见和新型疾病。两名科成员参加了UDN工作组。今年，该科成员就UDP进行了超过15次国家和国际会谈，促进了国际未诊断疾病网络（UDNI）的扩展，以共享表型和序列数据，并在德里组织了第七届国际UDNI会议。Cynthia Tivt博士是UDN指导委员会的联合主席，大卫亚当斯博士现在担任这一职务。 6. OCD为NIH UDP和由Cynthia Tivt，MD，PhD领导的鞘糖脂储存障碍部门提供行政支持。这些实体的科学成就载于单独的年度报告（HG 200402 -01），并附有出版物清单。

The NHGRI Office of the Clinical Director manages Clinical Support Services for Genetics and Genomics in a variety of ways. 1. The Office provides extensive administrative support for medical personnel in their performance of clinical research into rare genetic diseases. This includes credentialing of health care professionals, support of their state licenses, provision of parking spaces for acute care providers, scheduling of patients and their tests, arranging contracts for clinical testing, and providing reimbursement for travel, outside medical testing, and especially genetic testing. 2. The Office also provides academic support and infrastructure for clinical investigators, including the setting of policies for the Institute, assisting in patient recruitment, handling patient, physician, and Congressional inquiries by phone, FAX, or e-mail, providing advice regarding clinical protocol writing, tracking protocols through the Institutional Review Board (IRB) approval system, managing monitoring of the Institute's clinical protocols, establishing and supporting a Data Safety and Monitoring Board and arranging its meetings twice a year, and creating and maintaining a Statistical Consultation Service for the entire Institute. The Clinical Director also supervises the administrative personnel as well as research nurses and nurse practitioners for the Institute, and schedules ward coverage. The Clinical Director provides financial and administrative supervision of the Bioethics Core and the IRB, and the Scientific Review Committee (SCR) operates out of the OCD. The SRC reviews clinical protocols for scientific merit prior to IRB submission. This year the NHGRI IRB became part of the NIH-wide Medicine I IRB and transfer of the data system from PTMS to IRIS was completed. 3. The NHGRI Clinical Director supports the Clinical Center by contributing to the hospital's policy making, participating in biweekly meetings of the Medical Executive Committee, and representing the Clinical Center to distinguished visitors. Each Monday, members of the OCD conduct paper rounds of NHGRI patients seen in the past week and scheduled for the coming week. 4. The NHGRI OCD manages the Institute's recent initiatives regarding patient safety, protocol monitoring, event reporting, and data management. This past year, the OCD renewed contracts for clinical database data entry support, protocol monitoring, and handling of IND correspondence with the FDA. The OCD also sets policies and manages the assignment of Staff Clinicians to the status of either Assistant, Associate, or Senior Staff Clinician. The OCD verified adverse event training for the entire NHGRI clinical staff, and the Acting Clinical Director made quarterly reports to the NHGRI Director. 5. The Office of the Clinical Director advances clinical and translational research in the NHGRI by fostering new initiatives such as the NIH Undiagnosed Diseases Program (in collaboration with the NIH Clinical Center). This initiative, a model for Precision Medicine, provides answers to patients with mysterious conditions that have eluded diagnosis, and advances medical knowledge. The Intramural UDP is part of the Undiagnosed Diseases Network (UDN), a national consortium of 12 clinical sites, a coordinating center, sequencing center, biorepository, two model organism cores, and a metabolomics core. Over the past 10 years, the NIH UDP reviewed over 4000 medical records, evaluated over 1300 patients, and diagnosing over 300 rare and novel disorders. Two Section members sit on the UDN Working Group. This year, Section members delivered over 15 national and international talks on the UDP, fostered expansion of the Undiagnosed Diseases Network International (UDNI) for sharing phenotypic and sequence data, and organized the 7th international UDNI meeting in Delhi. Dr. Cynthia Tifft was Co-Chair of the UDN Steering Committee, and Dr. David Adams now serves in that position. 6. The OCD provides administrative support to the NIH UDP and also to the Unit on Glycosphingolipid Storage Disorders, headed by Cynthia Tifft, MD, PhD. The scientific accomplishments of those entities are presented in a separate Annual Report (HG200402-01), with a publications list.