6548 Background: Hereditary breast cancer accounts for 5-10% of all cases, but only 20% of eligible women undergo NCCN guideline-concordant screening. We demonstrated previously that our simple genetic risk screening tool (GRST) and telegenetics improved adherence to genetic testing guidelines and increased high-risk cancer surveillance. Our objective was to identify women eligible for genetic testing using breast cancer screening clinics in underserved communities as entry points, reach them with our tailored program, and measure impact. Methods: This is a prospective study in women presenting for breast cancer screening at The Rose, which provides breast imaging to underserved patients in Houston, TX. Women who consented to participate filled out the GRST and provided socio-demographic information. Those at high risk for hereditary cancer after GRST scoring were provided with educational materials and sent a saliva-based genetic testing kit. When results included a pathogenic variant (PV) or variant of uncertain significance (VUS), individuals received telegenetic counseling and risk reduction resources. Others were notified of negative results by phone. The program included education for providers about importance of genetic testing. Socio-demographic characteristics were analyzed using descriptive statistics. All statistical tests were two-sided. Results: 501 women filled out the GRST. Median age was 52. Median annual salary was $45,000 (IQR 21-75K). 151 (36.3%) were uninsured. 252 (50.3%) identified as White, 230 (45.9%) as Hispanic/Latino, and 106 (21.2%) as Black/African American. 150 (33%) were eligible for genetic testing; 100 could be contacted. Of the 100, 41 declined testing, 40 were lost to follow-up, 19 agreed, and 15 (10% of those eligible) returned the kits. Results included 11 negative, 2 VUS, 1 PV (NF1). Among 41 who declined testing, reported reasons included not wanting to know the results or preference to follow-up with their primary care doctor in 11 (26.8%) each, not enough time or prior genetic testing in 6 (14.6%) each, no reason given by five, and perception that testing was unnecessary in two. Completion of genetic testing was not associated with insurance, salary, family history, or race/ethnicity (p > 0. 05). Conclusions: Our study was successful in identifying underserved women at high risk of hereditary cancer who have not previously undergone genetic testing using a simple screening tool. We reduced barriers to genetic testing by working with a trusted community organization and using remote testing and telegenetics. We did not find any factors associated with genetic testing completion, though results are limited by small sample size. Given the low proportion of patients who completed testing, the next project phase will focus on improving convenience for patients and exploring patient and program-related reasons for non-completion of testing and strategies to overcome these.
10593 Background: Li-Fraumeni Syndrome (LFS) is a hereditary cancer syndrome associated with a germline mutation in the TP53 tumor suppressor gene and an increased risk of developing a spectrum of cancers throughout a carrier’s lifetime. Early cancer detection in patients with TP53 mutations can dramatically improve cancer survival rates. However, it can be difficult to identify patients at risk of LFS due to the overlap of the multiple cancer types with other inherited cancer syndromes. Risk prediction modeling has been widely accepted by the clinical community, however, currently there is not an available tool to assist in risk prediction of LFS during genetic counseling sessions. LFSPRO is a statistical model that has previously been validated on large research cohorts in predicting the likelihood of a proband having LFS based off detailed patient and family history information. To improve the clinical utility of LFSPRO, a user-friendly interface is still needed. Additionally, we aim to evaluate concordance between LFSPRO’s abilities in predicting the likelihood of a proband having LFS and currently established clinical testing criteria. Methods: We developed a Shiny App to create a user-friendly interface for genetic counselors (GCs) to run LFSPRO. Determining concordance of LFSPRO to standard germline testing criteria and the clinical utility of the LFSPRO Shiny App is underway by GCs within the Department of Clinical Cancer Genetics at MD Anderson Cancer Center through prospective data collection and completion of user surveys. Following a standard genetic counseling session, individuals identified as concerning for a potential germline TP53 mutation are evaluated with LFSPRO to compare performance of the model to established TP53 testing guidelines. Concordance is then evaluated in prediction of TP53 mutation carrier status from LFSPRO, current clinical criteria and clinical judgment. Data collection began 12/21/2021 and is currently ongoing. Results: Close collaboration with GCs and clinicians on the development of the LFSPRO Shiny App has achieved automated de-identified input data, clear pedigree drawing, important demographic data, interpretable risk results and risk visualizations to be used at the GC's discretion. To date, 29 individual’s family data have been run through LFSPRO. Of these, 11 have not currently completed TP53 testing and concordance cannot be determined. Of the 18 remaining, 14 individuals’ LFSPRO results were concordant with current clinical criteria. Further data collection is needed to appropriately analyze concordance. Conclusions: The LFSPRO Shiny App aims to provide an additional tool for GCs and clinical providers to assess patient risk for LFS. This ongoing study will help establish the clinical utility of LFSPRO in a single institution’s genetic counseling practice with the potential to be applied to other patient care settings in the future.
TPS10638 Background: Hereditary breast and colorectal cancers accounts for 5-10% of all cases, but less than half of all eligible patients undergo NCCN guideline-concordant screening. This proportion is even lower among Black patients, who have a higher breast cancer and colorectal incidence and mortality. Recruitment through community organizations has been shown to identify patients who are eligible for genetic testing but have not been offered it by their doctor. Our one-page cancer genetic risk assessment (CGRA) and telegenetics were previously shown to improve adherence to genetic testing guidelines for hereditary breast and ovarian cancer. Our objective is to identify adults eligible for hereditary breast and colorectal cancer syndromes genetic testing using trusted community organizations that serve the Black community as entry points, reach them with our tailored program, and measure impact. Methods: In this prospective single-arm trial, adults of > 18 years old who self-identify as Black or African American are recruited during events put together by community organizations in Houston, Texas. The CGRA was modified to encompass hereditary breast and colorectal cancer syndromes based on NCCN guidelines. To improve convenience, eligible participants can be consented and fill out the CGRA in-person or via QR code link using a smart phone. Study team members attend community events and are also available via phone to help with informed consent, CGRA, etc. Those at high risk for hereditary breast and colorectal cancer syndromes are provided with educational materials and can be sent the saliva-based kit or complete it on-site. When results of genetic testing include a pathogenic mutation (PV) or variant of uncertain significance, individuals receive telegenetic counseling and risk reduction resources, including about cascade genetic testing. Others are notified of negative results. The program includes education for interested community organization members about importance of genetic testing. The program is projected to reach 1,000 participants with 300 completing genetic testing and identification of 11 PV. The study is overseen by a Community Advisory Board. Impact will be evaluated via a multiple methods design using the Reach, Effectiveness, Adoption, Implementation, Maintenance (RE-AIM) Qualitative Evaluation for Systematic Translation (QuEST) framework six months after program start. Quantitative data will be analyzed using descriptive statistics and standard tests of association. Data collected via semi-structured interviews with participants and program implementers will be audio-recorded, transcribed, double-coded, and analyzed via thematic analysis. Enrollment started December of 2022. 15 participants patients enrolled during two community events. Clinical trial information: NCT05694559 .
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