Jose Alejandro Rauh-Hain, MD, MPH
- Associate Professor in the Department of Gynecologic Oncology and Reproductive Medicine at CUIMC
Project: IGNITE-TX (Identifying Individuals for Genetic Testing & Treatment) intervention
This study is designed to investigate different levels of support for probands and ARRs in their understanding of genetic cancer syndromes and genetic testing resources as well as their supporting decisions surrounding cascade genetic testing. The overall goal of the proposed research is to assess the feasibility of the IGNITE-TX (Identifying Individuals for Genetic Testing & Treatment) intervention study. The study is designed as a randomized trial, whereby all probands are given access to the online educational IGNITE-TX Hub as well as genetic navigator assistance, and then their relatives are randomized to one of 4 interventions. The four interventions are: 1) standard of care, 2) free genetic counseling and testing, 3) IGNITE-TX intervention (the online Hub as well as navigator support) and 4) IGNITE-TX intervention plus free genetic counseling and testing. Primary outcomes will be feasibility outcomes of participant (proband and ARR) enrollment, and percentage of completed surveys. Participants will complete baseline, 6-month and 12-month follow-up surveys to additionally measure secondary and exploratory outcomes related to genetics knowledge, decision-making/informed decisions, readiness for genetic testing, and satisfaction with navigation/online educational tools. After demonstrating feasibility and impact, our study has the potential to be scaled up and implemented in diverse community settings to support efforts to increase CGT and promote cancer prevention.
Jennifer S. Ferris
- Associate Research Scientist in the Department of Medicine at CUIMC
Project: The role of polygenic risk scores in ovarian cancer survival
In the U.S., ovarian cancer is the 5th leading cause of cancer death and the most fatal of the gynecologic cancers. While women with mutations in BRCA1 or BRCA2 (BRCA1/2) are at an increased risk of developing ovarian cancer, studies have shown a short-term survival advantage for women with BRCA1/2-mutated ovarian cancer. In addition to these highly penetrant genes, polygenic risk scores (PRS), which aggregate risks from common low-risk single nucleotide polymorphisms (SNPs), have been associated with ovarian cancer risk; however, no study has examined the role of PRS in ovarian cancer survival. Given the poor prognosis of ovarian cancer, and the potential survival differences between high and average risk women, it is critical to identify novel biomarkers of prognosis that can improve clinical and treatment decisions. Therefore, we are proposing to generate PRS for women with ovarian cancer in the UK Biobank (n=1,432), a large international dataset with extensive cancer outcomes and genomic data, and to assess differences in tumor characteristics and overall survival (OS) by BRCA1/2 pathogenic variant status and PRS. The results from this award will provide critical data for the submission of a larger grant focused on developing prognostic models for ovarian cancer which incorporate genetic factors (e.g., pathogenic variants in relevant genes, PRS) and important patient, tumor, and treatment characteristics, to reduce the burden of this highly fatal disease.