Clinical Cancer Genomics Program

Division Of Basic Sciences - Nci

Investigators

Linked publications, trials & patents

Abstract

CCGS is staffed with 1-part-time and 2 full-time cancer genetic counselors and a clinical cancer geneticist variant interpretation expertise. This year we added a Genetic Counseling Assistant (GCA), Hermelat Mesfin who started 6/7/2021. CCGS conducts weekly case conferences with fellows, students, and others for testing decisions, result interpretations and to discuss complex patients. Project updates in the last report: The protocol concept of a Randomized trial of a Cascade Testing Chatbot Versus Standard of Care did not go forward as the company that developed the Chatbot sold the tool to a commercial vendor. We are exploring other cascade enablers; and The Clinical and Laboratory Analysis of Familial Cancer GAPPS phenotype study transferred data to the University of British Columbia (BC), the project lead and the protocol was closed to accrual and open for data analysis only 7/2020. All sites, ours included, experienced low accrual. BC initially indicated data were sufficient for analysis but later decided to continue study accrual, so no publication is forthcoming. Currently we refer candidates to BC (n=2) and given this low volume will not re-open this protocol to accrual. The CCGP has achieved the following: 1) Genetic Counselor Training Program (GCTP): The MOU with the National Human Genome Research Institute (NHGRI) for the GCTP ends 3/21/2022 and we are actively renegotiating. The 3rd cohort begins 8/2021 and the first expanded cohort will graduate 12/2021. The NCI funded GCTP Assistant Director Leila Jamal, PhD, CGC finished the City of Hope cancer genetics training 4/2021. She completed a review of the cancer genetics curricular content and is expanding that content in collaboration with existing faculty. Working with Drs. Les Biesecker and Paul Meltzer she helped develop a Precision Oncology for Genetic Counselors course. She created a cancer genetics standardized patient rotation including an outcome assessment on this methodology at John's Hopkins Simulation Center and is actively exploring other Simulation Centers (i.e. George Washington University). CCGS Genetic Counselors (GC) accept students for clinical experiences and ongoing mentoring even with the transition to telemedicine. Students are provided a summary of cancer genetic research opportunities to consider for their Research Thesis and CCGS is available to serve on committees as indicated. Dr. Jamal continues her affiliation with the NIH Clinical Center Department of Bioethics. This relationship has benefited the CCR to facilitate ethics consults. 2) Clinical Cancer Genetics Service (CCGS): The CCGS provides investigator support in protocol development and clinical services to manage incidental findings and provides genetic counseling and testing as clinically or protocol indicated. CCGS submitted the request to be a formal consult service 11/2018, presented to the Clinical Center PSCQ committee 3/2019. As of 9/3/2021 our submission is not yet approved. DCRI cannot enable the ability to request consults in CRIS without this approval. Therefore, we maintain a central email and phone line for consult requests and worked with NHGRI so cancer consults submitted to NHGRI are referred back to us. We manage all POTS entries, lab billing with quarterly PI CAN reconciliation. From 7/10/2020-7/9/2021 CCGS saw 262 new consults (inclusive of all visits) down from 280 consults in 2020, not surprising given COVID restrictions. These does not include the T/N WES referrals. CCGS continues to see patients using telemedicine due to COVID without compromising consult availability or quality. We see patients in person when clinically indicated and to retrieve blood samples for laboratory shipment. Genetic counselors are embedded as part of the team in four services based on consult numbers and/or protocols requiring germline testing: Prostate; Lung; Mesothelioma (Drs. Hassan and Schrump protocols); and Inherited Gastric Cancer. We continue work with DCRI and their vendor to build a patient portal to pre-populate the CRIS pedigree tool followed by provider confirmation. DCRI notified us the draft tool has been received and will be in test later in August 2021. CCGS provides the clinical care and contributes to the germline variant interpretation for the Laboratory of Pathology (LP) T/N WES test. CCGS created the germline gene reporting list, crafted the consent and companion patient education sheet, worked with HMID to obtain OGC consent approval, get these into the iMED system, orient staff to iMED, developed operational procedures, and an SOP for CCR staff. Our GCA is the central contact for T/N WES requests regardless of NIH Institute. CCGS participates in all T/N WES sign-outs providing germline variant expertise and assistance in editing QCI generated reports. T/N WES had a soft launch on 6/17/2021. From 6/17-7/30/2021 we've seen 10 cases. Continuing education efforts included a program in collaboration with the Urologic Oncology Branch which ran 9/2020-6/2021. 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 now exploring with UOB an advanced cancer genetics series for fall 2021. CCGS is creating a Global Genetics and Genomics Community online unfolding case https://www.genomicscases.net/en with NHGRI funding. The case is in the final development phase, is getting ready for peer review, the actor has been selected, and the vendor is prepared to film once the case is finalized and COVID restrictions allow filming in the Clinical Center. CCGS also supports education and mentoring of students interested in a genetic counseling career. This year we supported a post bac funded through the Women's Malignancy Branch who was accepted into a Genetic Counseling Training Program. Additionally, 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 genetic counseling career. GOLDEN aims to increase the profession diversity and improve genomic service access in medically underserved communities. We identified several GOLDEN students interested in pursuing a career in genetic counseling who were not accepted to a Genetic Counseling Training Program with their first application. After interviewing candidates, we submitted a proposal for post back position to CCR which was funded. Elise Travis will start in late 2021. Lastly, we supported a summer student interested in becoming a genetic counselor who developed a BAP1 patient education tool. 3) Genomic Variant Curation: Interpreting genomic variants is a challenge. ClinGen is building 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. Dr. Kesserwan is Co-Chair of the Somatic WG TP53 IARC to NCI Transition, and a member of the: Hematologic Cancer Taskforce; Somatic Cancer WG; Pediatric Cancer TF; TP53 VCEP; Myeloid Malignancy VCEP; Germline/Somatic Variant Subcommittee; and the CDH1 VCEP of which Grace-Ann Fasaye is also a member. Functional VUS studies are not widely conducted yet are crucial to determining VUS functional significance. CCGS is developing a research study utilizing the RNA expertise in the Genetics Branch that involves designing a min-splice gene assay that will be used interrogate VUS functional impact. The proof of concept will be conducted in CDH1 splice variants and if successful the project will extend to interrogate VUS in other actionable genes.