Clinical Cancer Genomics Program

Division Of Basic Sciences - Nci

Investigators

Linked publications & trials

Abstract

The Genetic Counseling Training Program (GCTP) is staffed by one full-time PhD genetic counselor (GC) who also holds an appointment in the NIH Department of Bioethics. The Clinical Cancer Genetics Service (CCGS) is partially staffed with 1 part-time and 2 full-time clinical GCs and 1 full-time patient care coordinator (PCC) converted from a contactor to a GS position this year. CCR funded a 3rd full-time GC this year and our final candidate is being brought in as a contractor until she can be converted to a GS position given challenges as a direct GS hire. Our geneticist position remains open and continues to be advertised with the American College of Medical Genetics and Genomics and on the CCR Careers page. Dr. Chimene Kesserwan provides support for clinical, research, and T/N WES germline and somatic variant curation through her NIH Research Collaborator position. Dr. Sheila Rajagopal is available for urgent clinical issues and attends our weekly case conference to discuss complex patients, review testing decisions, result interpretations. The CCGP has achieved the following: 1) Genetic Counselor Training Program (GCTP): The MOU with the National Human Genome Research Institute (NHGRI) for the NIH GCTP in place through March 31, 2025. This year student stipends had a 15% increase and must cover the cost for our 6 students estimated at $16,853 for this fiscal year. This is a permanent increase that impacts the MOU annual budget MOU so the AO iworking on paperwork to amend the budget. NCI funded GCTP Assistant Director actively participates in weekly administrative meetings and Executive Committee tasks. This year she participated in a curriculum review with an outside consultant. She is involved in interviewing and ranking GCTP applicants. She is integral in student advising including independent and co-advising student thesis. She was the sole instructor for the Cancer Standardized Patient Rotation and developed, and taught the Advanced Topics in Cancer Genomics course. Dr. Jamal received the Johns Hopkins Bloomberg School of Public Health for Excellence in Teaching in 2023 associated with her work on three courses. In 8/2023, Dr. Jamal will complete a certificate program in Justice, Equity, Diversity, and Inclusion for Higher Educators at the UPenn with the aim of influencing the racial diversity of GCTP students. She contributed to the reaccreditation package and Drs. Meltzer and Calzone submitted a letter of support. CCGS GCs accept students for clinical experiences and mentoring. Students are provided a summary of cancer genetic research opportunities to consider for their Research Thesis and CCGS serves on committees as indicated. Dr. Jamal continues 50% effort in the NIH Clinical Center Department of Bioethics. This relationship benefits CCR by enhancing GC education with real ethical cases and facilitating CCR ethics consults. 2) Clinical Cancer Genetics Service (CCGS): CCGS provides investigator support in protocol development; manage genetic incidental findings; provide genetic counseling and testing as clinically or protocol indicated; and perform germline and/or somatic variant interpretation. CCGS continues not to be recognized by the Clinical Center as a formal consult service. We continue to maintain a central email and phone line for consult requests. From 7/10/2022-7/10/2023 CCGS saw 286 new consults up from 216. There were 65 requests for chart and/or genetic test report reviews. Chart reviews decreased as only 1 GC tracked this activity given time constraints. Most CCGS tests are conducted by outside laboratories. We have contracts with 2 laboratories and are establishing a 3rd. GCs complete the test request forms, PCC enters POTS information and reconciles when the laboratory invoice comes in to validate the test and charge. CAN 8036225 pays for all tests to avoid payment delinquency which affects laboratory contracts. Quarterly the AO reconciles with the PI CAN.This year CCGS worked with CCR to outline the process and assess need for a central payment mechanism. The final decison was to maintain the existing process and develop a SOP to cover the procedures and streamline the AO workload to reconcile test charges. PIs unable to pay will use the Outside Medical Services mechanism. Dr. Gulley began exploring options with Laboratory of Pathology (LP) to expand their testing platform to include CLIA approved germline testing. Dr. Aldape was provided with CCGS 2022-23 germline test volume/type to inform this effort. CCGS transitioned to a hybrid care delivery model seeing patients in person and telemedicine based on provider/patient preference. GCs are embedded as part of the team in 6 services: Kidney, Hematologic Malignancies, Mesothelioma; Prostate; Lung; and Inherited Gastric Cancer. DCRI developed a patient online portal family history questionnaire which pre-populates the CRIS Pedigree. DCRI demonstrated the tool to CCGS, allowed us to test and provide feedback, and on 7/26/2023 the developers demo'd the final product which now moves to the test environment. This may be deployed in CRIS within the next few months which could increase CCGS patient capacity. Tumor/Normal Whole Exome Sequencing (T/N WES) CCGS provides clinical support for the LP T/N WES test. CCGS roles involve: pretest genetic education and counseling; medical and family history collection; consent; germline variant curation, presentation of variant evidence at the weekly LP Exome Signout, and result disclosure. From 7/10/2022-7/10/2023 there were 182 T/N WES referrals, up from 49 in 2022. The CCGS PCC is the central contact for T/N WES consent requests for all NIH including NIAID GC (N=14 referrals) and Pediatric and Neuro Oncology Cases (N=76 referrals). For T/N WES cases not at the Clinical Center, saliva or buccal swab kits are mailed to the patient with a pre-paid return Fedex label. CCGS purchases the kits and covers mailing costs. The increase in T/N WES by the CCR Lymphoma team mentioned in last years' report has increased. CCGS supports student education including GCTP students for clinical experiences and research thesis. This year our concept for two post bacs from the Genetics Opportunities, Learning, Development, Empowerment and Networking (GOLDEN) Program was approved. One new post bac was approved with the second Vice slot coming from the existing CCGS CAN. We identified several GOLDEN students interested in pursuing a career in genetic counseling who were not accepted to a GCTP. Many are not local, but one is applying and a 2nd is considering the option. 3) Genomic Variant Curation and Clinical Management: Interpreting genomic variants is a challenge. ClinGen built a central resource to define the clinical relevance of genomic variants and convened several Working Groups, Task Forces, Gene Curation Expert Panels, and Variant Curation Expert Panels (VCEP). Grace Fasaye continues as a member on the CDH1 VCEP. Alex Lebensohn serves on the Expert Panel for the American Society of Clinical Oncology's Treatment of Malignant Pleural Mesothelioma Guidelines. She also participated in the FDA Advocacy Panel/Mesothelioma Listening Session. All team members participate in routine clinical work of verifying variant classifications from patients found to harbor a variant of uncertain significance, especially if a considerable length of time has passed since the patient was tested. Yi Liu leads the germline variant curation for the NIH T/N WES program with Dr. Calzone performing the Quality review of all variant classifications and accuracy of report content. Dr. Calzone leads the somatic variant curation for Dr. Apolo's protocol Olaparib protocol NCT04858334. Dr. Chimene Kesserwan provides the confirmation of these variant interpretations until a replacement geneticist is hired.