Disparities in completion of genetic testing and counseling for Lynch syndrome in high-risk patients diagnosed with endometrial cancer (601)

The primary goal of this study is to examine disparities in high-risk endometrial cancer (EC) patients in relation to rates of genetic referrals (GR), testing (GT), and counseling (GC). This is a retrospective analysis of patients with newly diagnosed EC between January 1, 2014 and September 1, 2020 at a single institution. Patients were defined as high-risk EC patients when they were 1) diagnosed at 50 years or younger, 2) had a positive family history for cancer or 3) had evidence of loss of mismatch repair protein expression on tumor immunohistochemistry. Rates of GR, GT and GC were analyzed based on race, ethnicity, primary language and insurance status. During the study period, 674 patients were diagnosed with EC and 249 (36.9%) were considered high-risk EC patients. Among high-risk patients, 128 (51.2%) were referred to GT and GC. Of those referred, 103 (80.5%) underwent GT and 85 (66.4%) completed GC. Out of all high-risk patients, 20 (18.4%) were positive for LS on GT and 29 (28.2%) had VUS results. In multivariate analysis, the odds of GT and GC referral were lower among patients who identified as Hispanic (OR=0.40; 95% CI=0.19-0.87; p=0.020). Patients who identified as black were less likely to receive GC when compared to patients of other races (p=0.030). It is our hope that through this data we will increase awareness around existing disparities in genetic evaluation for patients with EC and ultimately create strategies to improve equitable access to care for all patients.

ObjectiveThe primary goal of this study is to examine disparities in high-risk endometrial cancer (EC) patients in relation to rates of genetic referrals (GR), testing (GT), and counseling (GC).MethodsThis is a retrospective analysis of patients with newly diagnosed EC between January 1, 2014 and September 1, 2020 at a single institution. Patients were defined as high-risk EC patients when they were 1) diagnosed at 50 years or younger, 2) had a positive family history for cancer or 3) had evidence of loss of mismatch repair protein expression on tumor immunohistochemistry. Rates of GR, GT and GC were analyzed based on race, ethnicity, primary language and insurance status.ResultsDuring the study period, 674 patients were diagnosed with EC and 249 (36.9%) were considered high-risk EC patients. Among high-risk patients, 128 (51.2%) were referred to GT and GC. Of those referred, 103 (80.5%) underwent GT and 85 (66.4%) completed GC. Out of all high-risk patients, 20 (18.4%) were positive for LS on GT and 29 (28.2%) had VUS results. In multivariate analysis, the odds of GT and GC referral were lower among patients who identified as Hispanic (OR=0.40; 95% CI=0.19–0.87; p=0.020). Patients who identified as black were less likely to receive GC when compared to patients of other races (p=0.030).ConclusionIt is our hope that through this data we will increase awareness around existing disparities in genetic evaluation for patients with EC and ultimately create strategies to improve equitable access to care for all patients.

The aim of this study was to establish key characteristics that patients, consumers, and health professionals value regarding genetic testing (GT) and personalized medicine using the example of GT for hereditary Lynch syndrome. We conducted a series of focus groups with individuals recruited from a clinic that follows those at high risk for hereditary cancer, individuals recruited from the community, physicians, and genetic counselors. Participants were presented with clinical scenarios about Lynch syndrome testing and asked to identify characteristics that they perceived as important in making decisions about GT. Forty-two participants (19 community members, 8 high-risk and cancer patients, 3 genetic counselors, and 8 physicians) participated. Among community members and patients, the most frequently discussed considerations were the personal impact of GT and family impact, respectively. Among physicians, the most frequently discussed topic was the characteristics of genomic services (e.g., test invasiveness); among genetic counselors, the most frequently discussed topic was evidence and recommendations. A variety of test characteristics were important in decision making about GT. High-risk patients, community members, and health care providers had different priorities. Health care professionals should be aware of differences between their own considerations about GT and those that are important to patients.

Hereditary and Familial Colon Cancer

American Gastroenterological Association Institute and College of American Pathologists Quality Measure Development for Detection of Mismatch Repair Deficiency and Lynch Syndrome Management

e17619 Background: Lynch syndrome (LS) accounts for most of the inherited endometrial cancers. Universal screening of endometrial tumors for defects in DNA mismatch repair (MMR) is recommended using immunohistochemistry (IHC) to identify which patients qualify for genetic counseling and testing. We report Lynch screening and genetic testing rates at a New York City tertiary care center with a large minority population, while investigating any potential disparities. Methods: This is a retrospective cohort study of patients with newly diagnosed endometrial cancer between January 2014 and June 2022. Data were obtained from pathology and chemotherapy databases at the NewYork-Presbyterian Brooklyn Methodist Hospital. Variables including age, race, ethnicity, BMI, insurance, language, family history of cancer, date of diagnosis, stage, MMR IHC, and genetic counseling/testing status were manually extracted. Descriptive statistics were used. Chi-square/Fisher’s exact tests were used to examine the association between genetic counseling/testing and categorical variables. Wilcoxon rank-sum/t-tests were used for continuous factors. The Mann-Kendall trend test was used to determine the significance of time trends. Results: 373 patients were identified. 45% identified as white, 42% black, 1.3% Asian, 12% other/unknown; 8.3% were of Hispanic ethnicity and 18% were non-English speaking. Mean age at diagnosis was 66 years (SD:10). 207 (55%) patients were screened using MMR IHC. 82 (40%) of these patients had MMR deficiencies on IHC. Of these, 63 (77%) received genetic counseling. 62 (98%) of those counseled subsequently underwent genetic testing, and ultimately 7 (11%) were diagnosed with LS. The overall rate of LS detected was 1.9% in the study population. The rate of MMR IHC testing has been increasing, reaching 95% in 2021 and 100% in 2022. It was associated with significant differences in mean age at diagnosis (p < 0.01) and insurance type (p = 0.04). 45% of patients that received MMR IHC had private insurance, compared to 34% of patients that did not. The rate was not influenced by race, language, BMI, family history of cancer, or stage. The proportion of patients that received genetic counseling and testing for endometrial cancer also showed a significant upwards trend over time (p < 0.01). Genetic counseling and testing rates were significantly different by ethnicity (p = 0.03), with only 3.0% of patients receiving genetic counseling/testing identifying as Hispanic. 98% of genetic counseling was performed by a gynecologic oncologist, as opposed to a genetic counselor. Conclusions: There were no disparities in access to initial IHC screening in this diverse patient population, however more work must be done to reach all ethnicities for genetic counseling and testing. The rate of LS detected was less than the known prevalence in endometrial cancer, possibly indicating demographic differences or gaps in screening.

Screening for Early Pancreatic Neoplasia in High-Risk Individuals: A Prospective Controlled Study

Genetic counseling and testing for hereditary cancer risk in young adult women: Facilitating autonomy and informed decision making is key

Universal screening for Lynch syndrome in endometrial cancer results in increased acceptance of genetic counseling and testing

Colorectal Cancer Genetics Screening in the Community: Are We Ready? Can We Do It?

Colorectal cancer at a young age

The role of expanded testing for Lynch syndrome in women with endometrial cancer.

INTRODUCTION: Lynch syndrome (LS) is the most common inherited cause of colorectal (CRC) and endometrial cancer (EC) worldwide. Universal tumor screening (UTS) for LS is recommended in all CRC/EC patients via microsatellite instability (MSI) or immunohistochemistry (IHC) testing for the absence of mismatch repair proteins. Patients with positive UTS should be referred for genetic counseling (GC) and testing. At our institution, UTS is performed for all patients with CRC or EC, and the result is reported as an addendum on pathology reports and as a separate file. The proceduralist (surgeon or gastroenterologist) is responsible for referring positive UTS patients to GC. But, many are lost to follow-up. Historically, a secondary reminder was sent to the proceduralist by the genetic counselor to encourage GC for patients with positive UTS. This workflow was not executed 6/2017–9/2018. Our quality initiative aims to evaluate how modifications in the UTS workflow (with or without a secondary reminder) affected patient follow-up and determine the best approach for future UTS follow-up. METHODS: Cases reviewed 6/24/17–9/12/18 that underwent UTS for CRC/EC. These patients did not have a secondary GC reminder. UTS positive patient charts were analyzed to see: 1. if a GC referral was placed or recommended in the progress note, 2. if GC follow-up was completed and 3. if genetic testing was completed. Rates of patients with appropriate referrals and genetic testing were calculated. These were compared to historical results 2010–2017 when the UTS workflow included secondary reminders. RESULTS: Of the 239 patients with CRC/EC without a secondary reminder, 63 (26.4%) screened positive. Of the 63 patients, 29 (46%) had a referral ordered, 9 (14.3%) had GC recommended by the provider in the progress note, 27 (43.9%) had both a referral and documentation in a progress note. 40 (63.5%) of the 63 patients had one or both modes of GC referrals. 21 (33.3%) of the 63 followed up with GC. Of the 21, 20 (95.2%) had genetic testing. The historical rate of presentation to GC following positive UTS when a secondary reminder was part of the workflow was 89/192 (46.4%). CONCLUSION: 33% of CRC/EC patients with positive UTS followed up with GC during the current UTS workflow compared to 46% when a secondary reminder was sent to the proceduralist by the genetic counselor. Implementing a standardized approach for follow-up of patients with positive UTS that includes genetic counselor reminders improves GC rates for LS in CRC/EC patients.

Genetics, Genomics, and Oncology

Background: Annual screening mammogram is recommended for all women aged 40 years and older, as early detection of breast cancer leads to increased overall survival and better outcomes. During mammography, various risk factors such as age, BMI, and family history influence the risk of breast cancer. These data points, along with breast density classification, are used to calculate a Tyrer-Cuzick (TC) score, which estimates both the ten year and lifetime risk of breast cancer as a percentage. If the TC lifetime risk score percentage is ≥20%, the patient is considered to be at high risk for breast cancer and qualifies to be seen in high-risk breast cancer clinic to discuss additional recommendations beyond the annual screening mammogram. These recommendations include annual breast MRI, consideration of risk reduction strategies and genetic counseling. While previous studies have established that breast density and BMI are risk factors in developing breast cancer, few have explored the characteristics and trends among high-risk breast cancer patients. We hypothesize that patterns may exist among race, breast density, breast imaging findings, genetic testing results in this population of high-risk patients. Methods: We created a 6-month database (07/01/2022-12/31/2022) of women at high risk for breast cancer across a single health system with a diverse patient population. Data collected included self-identified race, TC score, mammography and MRI imaging findings, and genetic testing. Stratification analysis was performed using SAS Software 9.4. Results: A total of 496 women were included, with mean age of 47 years. The mean TC score was 23%. Compared to Black women, White women had higher rate of heterogeneously dense, fibroglandular density or fatty imaging on mammogram (p=0.0113). Among all women who had a breast MRI, 30% had abnormal findings. More White women had abnormal findings on MRI than Black women (33.0% vs 23.5%, p=0.1066). Regarding genetic consults, more White women than Black women attended appointments with genetics (45.4% vs 34.5%, p=0.0293). Additionally, 47.1% of White women pursued genetic testing compared with 35.5% of Black women (p=0.0193, RR 1.15, 95% Cl 1.03-1.30). Among those who had genetic testing, 53.1% of Black women were found to have genetic mutations (both VUS and pathogenic) compared with 40.8% of White women (p=0.1209). Patients with a TC score of 40% or higher were 83% more likely to have abnormal MRI findings than those with TC scores of less than 40% (RR 1.83, 95% Cl 1.10-3.03). Conclusions: These data demonstrate significant disparities in genetic testing and imaging findings between White and Black women in high-risk breast cancer clinic. White women were more likely to have genetics appointments and undergo genetic testing than Black women. Despite this, Black women had a higher proportion of genetic mutations among those tested. Additionally, patients with higher TC score (>40%) were more likely to have abnormal MRI findings, emphasizing the importance of comprehensive screening in high-risk individuals. These results underscore the importance of high-risk breast cancer clinics in educating patients about breast cancer and opportunities for risk reduction. They also demonstrate the critical need for equitable access to genetic counseling and testing services to ensure that all high-risk patients receive appropriate and timely care. Further research with a larger dataset and over a longer time frame is needed to better understand and address these disparities in high-risk breast cancer patients. Research sponsor: None. Citation Format: Helen Yuan, Erin Biggs, Joshua King, Adam Salup, Jessica Baudier, Erica Doubleday, Peggy Jo Alker, Raina Saxena, Melanie Sheen, Caitlin Taylor. Disparities among patients evaluated in dedicated high-risk breast cancer clinic [abstract]. In: Proceedings of the San Antonio Breast Cancer Symposium 2024; 2024 Dec 10-13; San Antonio, TX. Philadelphia (PA): AACR; Clin Cancer Res 2025;31(12 Suppl):Abstract nr P4-02-21.