Clinical Cancer Genomics Program

Division Of Basic Sciences - Nci

Investigators

Linked publications, trials & patents

Abstract

1) Genetic Counseling Training Program: Activities surround operationalizing the expanded Genetic Counseling Training Program. This included: establishing the MOU with NHGRI. A substantive change request was submitted to the Accreditation Council for Genetic Counseling and approved. Hiring an Assistant/Associate Training Director (TD). The expanded student cohort starts 8/30/2019. Preceptors for adult and pediatric cancer genetics clinical rotations include three NCI cancer genetic counselors. An increase in curriculum cancer content is planned for new and existing students. Several NCI PIs, genetic counselors, and I were put forward to the NHGRI TD to lecture. We have engaged NCI DCEG statistician, Josuha Sampson, PhD to perform statistical analysis on student cancer research theses. He will also provide presentations for genetic counseling students. I presented on NCI research at the Research Tapas aimed at stimulating student research ideas. The TD is investigating simulation centers at JHU or close to NIH for development of pilot research investigating outcomes from the use of novel training mechanisms, a role of the new Assistant/Associate TD. 2) CCGS: The CCGS provides investigator support in protocol development, clinical services to manage incidental findings, and provides genetic counseling. Working with DCRI, we developed order instructions to build a CRIS consult mechanism to differentiate from NHGRI, established the work flow, central consult email and an urgent consult phone line. I presented CCGS to the Patient Safety and Clinical Practice Quality Committee, which has been reviewing all consult services to determine which services will be approved by the Clinical Center to continue. The NHGRI consult service lead MD objected to our consult service due to impact on their volume and research agenda. Information was provided about referral to non-CCR research studies when applicable, instances in which either two separate consults were called for the same patient/indication, as well as when NHGRI consult service saw the patient and then referred the case to us as they did not have cancer expertise. DCRI is unable to turn on the CRIS Cancer Genetics consult request mechanism until consult service approval is granted. Despite this CCGS saw 194 patients, including in and out patients, telephone genetic counseling and if indicated testing, telephone consults for outside referrals to genetic providers, CLIA confirmation of incidental findings, and cascade testing. We instituted a lead genetic counselor model for two primary genetic testing protocols (Davis and Hassan) and offered genetic counseling services for Dr. Linehan's protocols. Lastly, our group participates in the review panel to classify variants in the Apolo 19C0023 study. CCGS also provides support for the Clinical Cancer Genetics Program at Walter Reed National Military Medical Center, Murtha Cancer Center. This includes a joint weekly clinical case conference which provides a forum for student, post bacs, and other education and provides a referral conduit into NCI research studies. Critical to the success of CCGS is genetic counselors and a clinical cancer geneticist. We hired cancer genetic counselor Alex Lebensohn. 3) Clinical and Laboratory Analysis of Familial Cancer: This study was to finalize laboratory analyses begun on 09C0079 and offer clinically relevant research results associated with identification of the genetic variant for a new gastric polyposis syndrome, Gastric Adenocarcinoma and Proximal Polyposis of the Stomach (GAPPS). GAPPS was found to be associated with germline point variants in APC promoter 1B. All participants who contributed samples to the 09C079 were offered genetic counseling and results following CLIA confirmation. At this time, any non-gastric phenotype associated with GAPPS is being assessed using a phenotyping survey in collaboration with investigators that participated in the gene identification. The phenotyping survey study is being led by the University of British Columbia, BC Cancer Research Centre. GAPPS represents a rare disease and only one family enrolled. Data was transferred to Dr. Schrader but when combined with data from the consortium there were insufficient numbers to draw meaningful conclusions so recruitment continues. 4) Randomized trial of a Cascade Testing Chatbot Versus Standard of Care: The patient initially identified with a pathogenic or likely pathogenic (P/LP) variant is considered the family proband. Once a P/LP variant is identified in a proband, health care providers ability to identify at-risk relatives is limited by family dynamics, maintaining proband's confidentiality, and the proband's willingness and ability to effectively communicate the information to at-risk relatives. Relatives who test positive for a P/LP variant have the opportunity for cancer early detection and possible risk reduction with risk reducing surgeries or chemoprevention. Cascade testing begins with first-degree relatives and extends to second- and third-degree relatives stepwise based on the pattern of transmission, moving through the pedigree in sequential steps as additional family members are identified with the P/LP variant. The uptake of genetic testing amongst at-risk relatives is 15-52% depending on the study. However, genetic testing among relatives who undergo genetic counseling is 95%. Given the genetic counselor shortage, we sought to identify an online mechanism to determine if we could increase cascade testing uptake. Chatbots are Artificial Intelligence (AI) that simulate conversations the way people would naturally speak to one another using sophisticated natural language processing systems to automate text-based dialogues and are also referred to as conversational agents. We plan to study uptake of genetic counseling and testing amongst at-risk relatives by randomizing probands' families to receive standard of care family communication plus a Chatbot versus standard of care (SOC) family communication. One vendor, Clear Genetics, has developed and tested a cascade genetic testing chatbot which has been deemed acceptable to the users but no assessment comparing the chatbot to usual care has been completed. Clear Genetics has agreed to collaborate with us on this study but the scope of what they have developed to date does not include many of the genes we study in CCR so chatbot customization and additional infrastructure for our research needs is required. This protocol concept was approved by the Genetics Branch and the protocol is being developed.