Clinical Cancer Genomics Program

临床癌症基因组学计划

• 批准号: 10262812
• 负责人: Kathleen Calzone
• 金额: $ 75.85万
• 依托单位: DIVISION OF BASIC SCIENCES - NCI
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10262812
• 关键词: Address; Age; Amendment; Attitude; Bioethics; British Columbia; CCR; Case Study; Clinical; Clinical Services; Collaborations; Communication; Communities; Companions; Computers; Consult; Consultations; Continuing Education; Counseling; Credentialing; DNA Sequence Alteration; Data; Data Analyses; Decision Making; Development; Disclosure; Disease; Doctor of Philosophy; Education; Education Gap; Educational Background; Educational Curriculum; Electronic Mail; Enrollment; Ethics; Ethnic Origin; Extramural Activities; Family; Family Cancer History; Film; Frequencies; Funding; Gastric Adenocarcinoma; Gastric Polyp; Gender; Genetic; Genetic Counseling; Genetic Services; Genetic study; Genomics; Goals; Health; Health Personnel; Healthcare; Hereditary Malignant Neoplasm; Incidental Findings; Individual; Infrastructure; Inherited; Institutes; Journals; Knowledge; Laboratories; Leadership; Learning; Logistics; Longterm Follow-up; Lung; Malignant Neoplasms; Malignant neoplasm of lung; Malignant neoplasm of prostate; Marital Status; Measures; Medical Genetics; Mentors; Mesothelioma; Modeling; Molecular Genetics; NCI Center for Cancer Research; Names; National Human Genome Research Institute; Outcome Measure; Participant; Pathogenicity; Pathology; Patients; Pediatric Oncology; Phase; Phenotype; Positioning Attribute; Professional counselor; Prostate; Protocols documentation; Provider; Randomized; Recording of previous events; Relative Risks; Research; Research Personnel; Resources; Retrieval; Role; Rotation; Running; Sampling; Secure; Services; Site; Standardization; Stomach; Students; Supervision; Surveys; Syndrome; Telemedicine; Telephone; Test Result; Testing; Time; Training; Training Programs; United States National Institutes of Health; Universities; Variant; Vendor; Work; arm; base; cancer genetics; cancer genomics; chatbot; clinical center; cohort; design; evidence base; experience; family genetics; genetic counselor; genetic pedigree; genetic testing; genetic variant; interest; malignant stomach neoplasm; meetings; molecular pathology; multidisciplinary; novel; open data; pandemic disease; patient portal; polyposis; proband; programs; promoter; protocol development; psychosocial; randomized trial; research study; satisfaction; simulation; standard of care; symposium; tool; treatment as usual; uptake; virtual; web site

Effective 8/2/2020, the CCGP is fully staffed with specific details provided below. To date, the CCGP has achieved the following: 1) Genetic Counselor Training Program Activities surround operationalizing the expanded Genetic Counseling Training Program. The three-year MOU with the National Human Genome Research Institute runs through 3/21/2022. The Program name has changed to the NIH Genetic Counseling Training Program. The first expanded student cohort (adds 2 NCI funded students) began 8/2019 and all NCI counselors were accepting students for clinical experiences as well as supervision. The 2nd cohort will continue with 2 NCI funded students but was not increased because there was no NCI supported Assistant Training Director on board when decisions about student cohort size needed to be made, 1/2020. The 2nd cohort begins 8/2020. The NCI funded Genetic Counselor Training Program Assistant Director Leila Jamal, PhD, CGC began work 5/26/2020. This positions us to work with NHGRI to increase the student cohort for the 8/2021 academic year. Dr. Jamal has been fully oriented to the scope of cancer genetic clinical services, genomic research and genetic counselors within NCI providing the platform for enhanced cancer genetic curricular content and clinical experiences. An expansion of the cancer genetics curriculum content is underway. Part of the training program expansion involves exploring alternate training models that facilitate program expansion. Arrangements, made by NHGRI, will utilize John's Hopkins Simulation Center and cases utilizing standardized patients are being created. The protocol to measure outcomes of this approach is also in development. CCGS Genetic Counselors continue to accept students for clinical experiences and ongoing mentoring which has included the transition to telemedicine. Students have also been provided a summary of research opportunities in cancer genetics to consider for their Master's Research Thesis and our team is available to serve on committees as indicated. Lastly, Dr. Jamal's PhD is in bioethics and she has maintained her affiliation with the NIH Clinical Center Department of Bioethics. This relationship has benefited the Clinical Cancer Genetics Consult Service which has already drawn upon this relationship to facilitate a cancer genetics ethics consult. 2) Clinical Cancer Genetics Service (CCGS) The CCGS provides investigator support in protocol development, clinical services to manage incidental findings, and provides genetic counseling. CCGS submitted the request to be a formal consult service 11/2018 and presented to the Clinical Center PSCQ committee 3/2019. Our submission has not yet been approved and DCRI cannot implement the ability to request consults in CRIS without this approval. We therefore established a centralized mechanism for consult requests via email and oriented CCR staff. We also met with the new NHGRI Clinical Director, Dr. Ben Solomon to overcome logistical challenges when a cancer consult is inadvertently entered for their service. To overcome problems with PI associated POTS entries and lab billing, we established and implemented in 10/2019 a centralized genetic testing billing program resolving all prior issues. From 7/10/2019-7/9/2020 the service saw 280 consults from across CCR branches, up from 194 consults in 2018-2019. This includes implementing telemedicine without compromising consult availability or quality of patient/family genetic counseling. Consult service genetic counselors are embedded as part of the team in three services thus far: Prostate; Mesothelioma; and Inherited Gastric Cancer. This is based on number of consults and/or disease specific protocols that routinely perform germline testing. We expect to expand this to include the lung genetic testing protocol once the amendment gets underway. We worked with DCRI to establish the CRIS pedigree tool which included alpha and beta testing as well as roll out orientation. The pedigree tool went live 8/8/2019. Since then we have provided orientation to different groups, and work with DCRI to refine the tool, address problems and expand utilization. The next phase of development involves building a patient portal entry and pedigree retrieval mechanism which is on hold given the pandemic. CCGS is now fully staffed, adding a cancer genetic counselor Yi Liu MS who started 7/5/2020 and a clinical cancer geneticist, Chimene Kesserwan, MD starting 8/3/2020 with expertise in pediatric oncology, pathology, clinical genetics, molecular genetics, and molecular pathology. These last hires expand our clinical service and variant interpretation capacity. CCGS meets weekly for a clinical case conference that will expand with the cancer geneticist on board. The meeting has a clinical review/decision-making component and an education platform for genetic counseling students, post bacs, fellows and others. Once the clinical geneticist is credentialed (package submitted), we will be accepting genetics fellows in need of clinical cancer genetic experiences. Continuing education efforts have begun internally for CCR with the Prostate team in collaboration with Dr. Pinto. An every other week prostate cancer genetic case conference was implemented 5/2020. CCGS staff are working with Dr. Pinto and his team to expand this to weekly beginning 9/2020, which will include genetics didactic content, journal club, and cases alternating. The CCGS was contacted by the lung cancer team to initiate a similar disease specific genetics case conference. CCGS has secured NHGRI funding to build an additional Global Genetics and Genomics Community Case (G3C) https://www.genomicscases.net/en to expand cases available to learn genetics/genomics. G3C is an online unfolding interactive case study website established by Drs. Calzone (NCI) and Jenkins (NHGRI). Cases are filmed with actors, are interactive, designed for use by all health providers and most include post virtual encounter expert debriefing. Case planning is already underway. 3) Clinical and Laboratory Analysis of Familial Cancer: The laboratory analysis and research result CLIA confirmation and disclosure is complete. Enrollment in the phenotype associated with GAPPS, assessed using a survey has also completed enrollment. The phenotyping survey study is led by the University of British Columbia, BC Cancer Research Centre and all sites including ours experienced interest but low accrual. BC has determined that there is enough data for analysis. Data was transferred to BC and the study closed to accrual and open for data analysis only 7/2020. This study accrued 19 participants, 16 in the genetic variant discovery arm, 5 in the phenotyping sub-study with 2 in both arms. 4) Randomized trial of a Cascade Testing Chatbot Versus Standard of Care: The uptake of genetic testing among at-risk relatives once a pathogenic variant is identified in a family (Cascade Testing) is 15-52%. However, genetic testing among at-risk relatives who undergo genetic counseling is 95%. This study will measure the uptake of genetic counseling and testing among at-risk relatives by randomizing probands' families to receive standard of care (SOC) family communication plus a Chatbot versus SOC family communication. One vendor, Clear Genetics, has developed and tested a cascade genetic testing chatbot found acceptable to the users but no comparison of the chatbot to usual care has been completed. Clear Genetics sold the chatbot to Invitae, so we are actively renavigating options for use of the chatbot. This protocol concept was approved by the Genetics Branch and the protocol has been developed but not submitted until arrangements for chatbot use is established.

自2020年8月2日起，CCGP配备齐全，具体细节如下：迄今为止，CCGP已经取得了以下成就：1)遗传咨询师培训计划活动围绕着扩展的遗传咨询培训计划的运作。与国家人类基因组研究所的三年谅解备忘录将于2022年3月21日到期。该项目名称已改为国立卫生研究院遗传咨询培训项目。第一批扩大的学生队列（增加了2名NCI资助的学生）于2019年8月开始，所有NCI辅导员都接受学生进行临床体验和监督。第二批将继续招收2名NCI资助的学生，但没有增加，因为在1/2020年需要决定学生队列规模时，船上没有NCI支持的助理培训主任。第二批从2020年8月开始。NCI资助的遗传咨询师培训项目助理主任Leila Jamal博士，CGC于2020年5月26日开始工作。这使我们能够与NHGRI合作，增加8/2021学年的学生人数。Jamal博士一直完全面向癌症遗传临床服务，基因组研究和NCI遗传顾问的范围，为增强癌症遗传课程内容和临床经验提供平台。癌症遗传学课程内容的扩展正在进行中。培训计划扩展的一部分涉及探索促进计划扩展的替代培训模式。NHGRI做出的安排将利用约翰霍普金斯模拟中心，并正在创建使用标准化患者的病例。衡量这一方法成果的方案也在制定中。CCGS遗传咨询师继续接受学生的临床经验和持续的指导，其中包括过渡到远程医疗。我们还为学生提供了一份癌症遗传学研究机会的摘要，供他们在硕士研究论文中考虑，我们的团队可以在指定的委员会中服务。最后，Jamal博士的博士学位是生物伦理学，她一直与NIH临床中心生物伦理学部门保持联系。这种关系使临床癌症遗传学咨询服务受益，该服务已经利用这种关系来促进癌症遗传学伦理咨询。2)临床癌症遗传学服务（CCGS） CCGS为研究人员提供方案制定方面的支持，管理偶然发现的临床服务，并提供遗传咨询。CCGS于2018年11月提交了正式咨询服务申请，并于2019年3月提交给临床中心PSCQ委员会。我们的提交尚未获得批准，DCRI不能在没有此批准的情况下实现在CRIS中请求咨询的能力。因此，我们通过电子邮件建立了一个集中的咨询请求机制，并指导CCR人员。我们还会见了NHGRI的新临床主任Ben Solomon博士，以克服在无意中进入他们服务的癌症咨询时的后勤挑战。为了克服PI相关的POTS录入和实验室计费问题，我们于2019年10月建立并实施了集中的基因检测计费计划，解决了所有先前的问题。从2019年7月10日至2020年7月9日，该服务收到了来自CCR分支机构的280次咨询，高于2018年至2019年的194次咨询。这包括在不影响咨询可用性或患者/家庭遗传咨询质量的情况下实施远程医疗。咨询服务到目前为止，遗传咨询师作为团队的一部分被嵌入到三个服务中：前列腺；间皮瘤;和遗传性胃癌。这是基于常规进行生殖系检测的咨询数量和/或疾病特定方案。一旦修正案开始实施，我们希望将其扩展到肺基因检测协议。我们与DCRI合作建立了CRIS谱系工具，其中包括alpha和beta测试以及推出方向。谱系工具于2019年8月8日上线。从那时起，我们为不同的群体提供了指导，并与DCRI合作完善工具，解决问题并扩大使用范围。下一阶段的开发涉及建立患者门户入口和谱系检索机制，由于大流行，该机制被搁置。CCGS目前人员配备齐全，新加入了一名癌症遗传咨询师Yi Liu MS，她于2020年7月5日加入；一名临床癌症遗传学家Chimene Kesserwan， MD，她在儿科肿瘤学、病理学、临床遗传学、分子遗传学和分子病理学方面具有专业知识。最近的招聘扩大了我们的临床服务和变异解释能力。CCGS每周召开一次临床病例会议，将扩大癌症遗传学家的参与范围。会议有临床审查/决策部分，并为遗传咨询学生、博士后、研究员和其他人提供教育平台。一旦临床遗传学家获得证书（包提交），我们将接受需要临床癌症遗传经验的遗传学研究员。与Pinto博士合作，前列腺团队已经开始了CCR内部的继续教育工作。5/2020每隔一周召开一次前列腺癌遗传病例会议。CCGS的工作人员正在与平托博士及其团队合作，从2020年9月开始将其扩大到每周一次，其中将包括遗传学教学内容、期刊俱乐部和病例交替。肺癌小组联系了CCGS，发起了一个类似的疾病特异性遗传学案例会议。CCGS已获得NHGRI的资助，以建立一个额外的全球遗传学和基因组学社区案例（G3C） https://www.genomicscases.net/en，以扩大遗传学/基因组学学习的案例。G3C是由张志刚博士创办的在线展开互动案例研究网站。Calzone （NCI）和Jenkins （NHGRI）。案例由演员拍摄，具有互动性，供所有卫生服务提供者使用，大多数案例包括虚拟遭遇后专家汇报。病例规划已经在进行中。3)家族性肿瘤的临床和实验室分析：实验室分析和研究结果CLIA确认和披露完成。与GAPPS相关表型的入组，通过调查评估也完成了入组。表型调查研究是由不列颠哥伦比亚大学，不列颠哥伦比亚省癌症研究中心和包括我们在内的所有网站领导的。BC已经确定有足够的数据进行分析。数据被转移到BC，研究结束，仅在2020年7月开放数据分析。这项研究共有19名参与者，其中16名在遗传变异发现组，5名在表型亚组，两组各2名。4)级联检测聊天机器人与标准护理的随机试验：一旦在一个家庭中发现致病变异（级联检测），高危亲属中接受基因检测的比例为15-52%。然而，接受遗传咨询的高危亲属进行基因检测的比例为95%。本研究将通过随机分配先证家庭接受标准护理（SOC）家庭交流加上聊天机器人与SOC家庭交流来衡量高危亲属对遗传咨询和测试的接受情况。一家名为Clear Genetics的供应商已经开发并测试了一款用户可以接受的级联基因检测聊天机器人，但还没有将聊天机器人与常规护理进行比较。Clear Genetics把聊天机器人卖给了Invitae，所以我们正在积极地重新选择使用聊天机器人。该协议概念已得到遗传学部门的批准，该协议已开发，但在建立聊天机器人使用安排之前尚未提交。