Clinical Cancer Genomics Program

临床癌症基因组学计划

• 批准号: 10703116
• 负责人: Kathleen Calzone
• 金额: $ 157.94万
• 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/10703116
• 关键词: Address; Advisory Committees; Award; Back; Bioethics; Blood specimen; CCR; CDH1 gene; Cities; Classification; Clinical; Clinical Services; Collaborations; Communities; Community of Practice; Companions; Complex; Consent; Consult; Consultations; Continuing Education; Contracts; Data; Development; Disclosure; Doctor of Philosophy; Education; Education Gap; Educational Curriculum; Electronic Mail; Enrollment; Extramural Activities; Fellowship; Film; Funding; Future; Genes; Genetic; Genetic Counseling; Genetic Services; Genome; Genomics; Goals; Health behavior; Healthcare; Hematopathology; Hematopoiesis; Historically Black Colleges and Universities; Hour; Individual; Infrastructure; Inherited; Institutes; Interview; Label; Laboratories; Leadership; Learning; Longterm Follow-up; Lung; Lymphoma; Malignant Neoplasms; Manuscripts; Medical; Medical Genetics; Mentors; Mesothelioma; National Human Genome Research Institute; Outcome Assessment; Pathology; Patient Schedules; Patients; Persons; Phase; Positioning Attribute; Preparation; Professional counselor; Prostate; Protocols documentation; Provider; Reporting; Research; Resources; Role; Rotation; Saliva; Sampling; Schedule; Services; Ships; Societies; Standardization; Students; Swab; Telemedicine; Telephone; Testing; Therapeutic; Time; Training; Training Programs; Tumor Pathology; United States National Institutes of Health; Universities; Urologic Cancer; Urologic Oncology; Variant; Vocational Guidance; Work; Workload; active duty; base; cancer genetics; cancer genomics; clinical center; clinical infrastructure; clinically relevant; cohort; cost; design; empowerment; evidence base; exome sequencing; experience; genetic counselor; genetic testing; genetic variant; improved; interest; journal article; malignant stomach neoplasm; medically underserved; meetings; member; multidisciplinary; novel; online community; precision oncology; programs; protocol development; research study; simulation; skills; student mentoring; symposium; tumor; underserved community; working group

The Clinical Cancer Genetics Service (CCGS) is partially staffed, with 1-parttime and 2 full-time cancer genetic counselors (GC). Our clinical cancer geneticist Dr. Chimene Kesserwan, decided to pursue a hematopathology fellowship starting 7/1/2022. On 6/30/202 she transitioned to an NIH Research Collaborator position continues to provide clinical genetic expertise, consultation and contributes to clinical and T/N WES germline variant curation. She will be conducting a Clonal Hematopoiesis study once the exemption is approved. The CCGS conducts weekly case conferences with fellows, students, and others for testing decisions, result interpretations and to discuss complex patients. Dr. Sheila Rajagopal attends our case conference and provides medical support which Dr. Meltzer agreed she had the expertise needed. The CCGS has achieved the following: 1) Genetic Counselor Training Program: The MOU with the National Human Genome Research Institute (NHGRI) for the NIH Genetic Counseling Training Program (GCTP) was renegotiated signed April 2022. In this renewal, NHGRI declined to expand the cohort of annual student beyond the 2 funded by CCR. The 4th cohort begins 8/2022 and the 2nd expanded cohort will graduate 12/2022. The NCI funded GCTP Assistant Director continues as an active member of the City of Hope cancer genetic Community of Practice. This year, working with Drs. Biesecker and Meltzer she developed and conducted a Precision Oncology GC course and applied to Johns Hopkins Department of Health, Behavior and Society to obtain credit approval. She created a cancer genetic standardized patient (SP) rotation that included scripting 7 patient cases, actor training, outcome assessments, and identifying additional preceptors. She is working with GCTP leadership to develop a manuscript about SP best practices. She also designed and taught a companion course aimed at improving genetic counseling students' case preparation skills in the cancer. She participated in an outside consultant curriculum review and continues to interview and rank applicants. CCGS GCs accepts students for clinical experiences, mentoring and thesis advising. Dr. Jamal continues 50% effort with the NIH Department of Bioethics. 2) CCGS provides protocol development support and clinical services to manage genomic results and provides genetic counseling/testing. Our request to be a formal consult service in 2019 was not approved. CCGS maintains a central email and phone line for consult requests and worked with NHGRI so cancer consults submitted to the NHGRI consult service are referred back to us. Drs. Gulley and Levine are exploring ways to address this. From 7/10/2021-7/9/2022 CCGS saw 216 consults (not includingT/N WES [data below]) with an additional 125 requests for chart and/or genetic test report reviews. Most germline tests are conducted by outside laboratories i.e. Invitae. Test request forms for outside labs are completed by the GC that saw the patient. Our group enters all POTS, my CAN pays for the test, then quarterly reconciles with the PI CAN. Invitae has laid off 1000 staff as part of restructuring which in the future may change our contract genetic test cost. Dr. Gulley is exploring options with LP to expand their testing platform to include clinical grade germline testing. CCGS continues to see patients mostly using telemedicine without compromising consult availability or quality. Patients are seen in person when clinically indicated and to retrieve blood samples for laboratory shipment. Most germline samples are collected using saliva or buccal swabs. GCs are embedded in four services based on consult numbers and/or protocols requiring germline testing: Prostate; Lung; Mesothelioma; and Inherited Gastric Cancer. From 7/10/2021-7/9/2022 there were 49 CCR for T/N WES. Dr. Calzone and GC Yi Liu participate in the weekly paired T/N WES signout meeting conducted by LP. Our team is the primary reviewer of all germline variants in QCI, provides the initial variant classification and crafts the initial variant interpretation section on the germline report.. The CCGS GC Assistant is the central contact for T/N WES consent requests and patient scheduling for all NIH. An additional 47 T/N WES cases not for CCGS were scheduled with most (44) going to the CCR POB/NOB GC. For T/N WES encounter occurs when the patient is not at the Clinical Center, saliva or buccal swab kits are mailed to the patient with a return Fedex label. CCGS currently covers all kit purchases and mailing costs. On 6/15/2022 Dr. Calzone met with the CCR Lymphoma team including Drs. Roschewski and Staudt. They have obtained approval from Dr. Ken Aldape to perform T/N WES on all patients seen by this team. The estimate provided is approximately 250 T/N WES cases/year from the lymphoma team. CCGS conducted a workload study from 4/1/2022-4/29/2022. These data are being used to establish current workload begin to establish genetic counselor time for activities such as T/N WES consent/result disclosure and average counselor time based for general consults based on case complexity. However, this assessment was conducted prior to Dr. Kesserwan announcing her departure. Therefore, a second assessment of the time/workload associated with variant curation when done by the GC followed by confirmation by Dr. Kesserwan review is underway. These data will help inform whether we can accommodate this significant increase in T/N WES cases including variant curation with existing staff. Continuing education efforts included a program in collaboration with the Urologic Oncology Branch which ran 9/2020-6/2022. Weekly one-hours sessions open to intramural and extramural providers awarded 1 CE and were taped for future use. Topics included basic cancer genomics, genetic counseling fundamentals, urologic cancer genetics including therapeutics, review of journal articles and clinical cases. CCGS is creating a Global Genetics and Genomics Community online unfolding case https://www.genomicscases.net/en with NHGRI funding. The case has been filmed and is in the final phases of going up online. This webite will move to genome.gov this year. CCGS also supports education and mentoring of students interested in a genetic counseling career. GC Grace-Ann Fasaye co-founded the Genetics Opportunities, Learning, Development, Empowerment and Networking (GOLDEN) Program for students at Historically Black Colleges and Universities interested in pursuing a GC career. GOLDEN aims to increase the profession diversity and improve genomic service access in medically underserved communities. CCR supported a GOLDEN post-bacc Elise Travis who started 1/3/2022. She completed an inherited gastric cancer cascade testing study and has been accepted into a PhD/GC program which begins 8/2022. 3) Genomic Variant Curation: Interpreting genomic variants is a challenge. ClinGen has built a central resource to define the clinical relevance of genomic variants and convened several Working Groups (WG), Task Forces (TF), Gene Curation Expert Panels, and Variant Curation Expert Panels (VCEP) which CCGS actively participates. With Dr. Kesserwan's departure for the fellowship, the CCGS representation on these panels is limited. Grace Fasaye continues as a member on the CDH1 VCEP.