Cancer Genetic Services Research Articles

Mainstreaming cancer genetics: feasibility of an advanced nurse practitioner-led service diagnosing Lynch syndrome from colorectal cancer in Ireland.

Colorectal cancer (CRC) is a common cancer in Ireland. Of all CRCs, 2-4% are attributable to Lynch Syndrome (LS), the most common CRC predisposition syndrome. LS is caused by constitutional pathogenic variants (PVs) affecting mismatch repair (MMR) genes with resultant MMR protein deficiency (dMMR). Screening of all CRCs with MMR immunohistochemistry (IHC) testing is advocated to increase the detection of LS. However, successful implementation requires appropriate downstream management. In Ireland the traditional pathway involves referral to cancer genetics services to assess eligibility for genetic testing. Cancer genetics services in Ireland face many challenges in providing uniform access to timely healthcare with current wait times for assessment in excess of 1 year. An increasingly adopted pathway is that of mainstreaming, whereby genetic testing is managed locally by a multidisciplinary team member. Our institution therefore implemented an Advanced Nurse Practitioner (ANP)-led service with responsibility for the LS Diagnostic Pathway and mainstream genetic testing. Data was extracted from a prospectively maintained database of all newly diagnosed CRC patients discussed at our institutions CRC multidisciplinary meeting (MDM) between January 1st, 2023, and May 31st, 2024. MMR IHC testing was performed in 97.9% of the 385 patients diagnosed with CRC. The median time from histological confirmation of CRC to the availability of the MMR IHC report was 6 days. All 51 patients (100%) who required sequential tumor testing underwent BRAF V600 ± MLH1 promoter methylation testing. Additionally, 100% of the 14 patients eligible for mainstream genetic testing were referred to the ANP-led genetics service. The median time from the initial MDM discussion to the initiation of genetic testing was 69 days, while the median time from testing to the availability of results was 19 days. Patients received their results within a median of 21 days. MMR IHC testing increases the detection of LS through identification of dMMR tumours. Successful downstream delivery of clinical services, however, requires appropriate subsequent management, in a resource-limited environment. Our institutional experience demonstrates the feasibility, efficiency, and effectiveness of an ANP-led mainstreaming model of care for hereditary colorectal cancer.

PALB2 analysis in the diagnostic process of breast cancer: An Italian monocentric experience.

The clinical utility of germline BRCA1 and BRCA2 testing is well established in patients with family history suggestive for hereditary breast and ovarian cancer syndrome. Recently, germline PALB2 pathogenic variants were also associated with an increased risk of breast and other cancers and, in the Italian population, it has been described in few studies without a systematic germline analysis of BRCA1, BRCA2 and PALB2. In this study, we described ASST Sette Laghi cancer genetic counselling services' experience in the analysis of 402 patients with suspected breast and ovarian cancer syndrome, by using BRCA1, BRCA2 and PALB2 germline genetic test. The frequency of PALB2 pathogenic variants was 1.2% compared to 3.5% and 3.2% for BRCA1 and BRCA2, respectively, whereas class 3 variants were detected in 0.3% and 0.5% of the BRCA1 and BRCA2 investigated patients, respectively. PALB2 pathogenic variants were identified in patients with a strong family history for breast cancer. Moreover, PALB2 variants were significantly associated with a younger age of breast cancer onset (mean age, 40.25 years) compared to wild-type patients (mean age 51.2 years, p-value = 0.0331). Similar to BRCA-associated breast cancer, the majority of PALB2 breast cancers were identified at an advanced clinical stage. Pedigree analysis revealed a family history of breast and ovarian cancer syndrome in all PALB2 pathogenic variants carriers (early breast cancer onset, bilateral breast cancer and ovarian cancer). In conclusion, the germline analysis of BRCA1, BRCA2 and PALB2 should be included in breast cancer clinical practice as a not negligible number of PALB2 carriers could be identified and referred to specific surveillance protocols.

Feasibility of an environmental scan-based approach to collecting information about factors impacting cancer genetics services in Latin American countries.

Clinical cancer genetics services are expanding globally, but national policy and health care systems influence availability and implementation. Understanding the environmental factors within a country is required to appropriately implement, adapt, and evaluate cancer genetics service delivery models. An environmental scan (ES) is an approach used in business, public health, health care and other sectors to collect information about an environment or system for strategic decision making and program planning. An ES has been previously used to assess cancer genetics clinic-level factors to inform quality improvement efforts in the United States. We assessed the feasibility of using an ES to collect information about factors that may influence cancer genetics service delivery in the outer-most socio-ecological model environmental levels (policy, national agencies, healthcare systems, cultural considerations) in three Latin American countries. Oncology and Genetics care team members at three participating sites used publicly available sources and personal experiences to complete a data collection form (DCF) that included questions about subtopics: laws and policies, relevant agencies and regulations, health care systems and insurance, and cultural considerations. Time to complete the DCF and DCF completeness were used to measure ES feasibility. Participating sites completed the DCF in 3 months, and most questions (average, 87.0%) were answered. Questions in the cultural considerations subtopic had the fewest answers (average, 77.8%). Overall, the ES was feasible and identified a lack of published literature related to cultural considerations impacting health care and genetics services uptake in Latin America. Environmental factors impact cancer genetics services, and identification of these factors will facilitate future collaborative research and genetics service delivery dissemination efforts.

Assessing capacity for hereditary cancer risk assessment in metro Chicago.

307 Background: Since 2005, the United States Preventive Services Task Force (USPSTF) recommends that primary care (PC) clinicians identify and refer adults with a high-risk cancer family history to cancer genetic services (CGS), yet hereditary cancer risk assessment (HCRA) continues to be underutilized in PC. A population-based approach to HCRA in PC settings can expand access to cancer prevention and early detection to vulnerable populations and reduce disparities in cancer outcomes. The Chicago Cancer Screening and Testing Access Coalition (CCSTAC) is developing strategies to integrate HCRA in PC settings. We conducted an environmental scan to assess current capacity to deliver 1) HRCA in Federally Qualified Health Centers (FQHCs) and 2) follow-up CGS for high risk patients. Methods: In 2023, we administered two surveys to assess HCRA practices in Metro Chicago. We invited 22 FQHCs to complete a 21-item survey of current practices, readiness to implement, and barriers to HCRA. We also invited 21 CGS sites to complete a 25-item survey to understand staffing, utilization, referral patterns, and barriers to access. Surveys were administered electronically via Qualtrics. We conducted a descriptive analysis of survey data. Results: Twenty FQHCs (91%) completed the survey on HCRA in PC; 85% reported familiarity with USPSTF guidelines for HCRA. The majority (75%) reported no plans to implement HCRA. Clinic workflow, paucity of follow-up resources, cost, lack of provider knowledge, and absence of HCRA as a mandatory performance measure were cited as the most significant barriers to implementation. Genetic counselors (GCs) from 19 CGS hospital-based sites (90%) completed the survey on availability of genetic services. CGS were most often located in a cancer center (47%); no CGS were located in PC. Most referrals originated from oncology, surgery, or gastroenterology, with the lowest rate of referrals from community-based PC. Nearly half of CGS clinics (47%) reported capacity for at least a small increase in patient volume. Wait-time at the majority of CGS clinics was less than a month. GCs cited patient logistics (e.g. transportation, time off work), lack of referral information from providers, and systemic racism as significant barriers in patient access to CGS. Conclusions: After almost 20 years of evidence-based guidelines, use of HCRA is still very limited in the community-based PC setting. Our findings point to a need to bridge the gap between hospital-based CGS and FQHCs to ensure patients in vulnerable communities have access to guideline-concordant cancer prevention and screening strategies. Based on these findings, CCSTAC is designing strategies to integrate HCRA in primary care at FQHCs focused on provider education, well-designed clinic workflows, connections with existing CGS, and advocacy to align UDS and HEDIS measures with USPSTF guidelines.

Exploring barriers to completing referral appointments for cancer genetic services in a rural state.

83 Background: Genetic counseling and testing promotes awareness and management of hereditary cancer risk. Barriers exist to accessing cancer genetic services, particularly among those with healthcare disparities, i.e., those facing geographic and socioeconomic barriers. These barriers impact not only the ability to obtain a referral but also whether the initial appointment is scheduled and completed. This study explored referrals and what factors were associated with whether appointments were successfully completed in a predominantly rural state (Maine). Methods: Medical records were reviewed for patients referred to the state’s largest health system-based cancer genetic program from 2017 through 2023. We evaluated factors that may be associated with referral completion within 90 days. These included: year of referral, patient factors, clinical factors, and health system factors. Associations were examined using univariate logistic regression models. Results: A total of 11,643 referrals were placed and examined over the period studied. Despite a steady increase in the number of referrals, the percent of referrals that were successfully completed decreased over time (54.04% in 2017 to 51.06% in 2023). Patients with older age and whose primary language was identified as English had greater likelihood of completing the referral (OR = 1.01; p < 0.001 and OR = 3.37; p < 0.001, respectively). Patients living in isolated rural areas and those without insurance were less likely to complete the referral (OR =0.84 and OR 0.61; p < 0.001, respectively). Patients with a cancer diagnosis were almost three times more likely to complete the referral (OR = 2.93; p < 0.001). Referrals scheduled as telemedicine appointments were less likely to be completed (OR =0.63; p < 0.001); and referrals coming from providers within the health system were twice as likely to be completed (OR = 2.15; p < 0.001). Conclusions: Successful completion of referral appointments to cancer genetic services varied by several important patient, clinical, and health system factors. Further multivariate analyses will be conducted. Strategies including language translation, educational materials, and financial assistance might boost the completion rate for structurally vulnerable patients. Systems aimed at streamlining the scheduling process are needed to support all individuals in accessing cancer genetic services, with a focus on those with healthcare disparities.

The implementation and outcome of a breast cancer genetic counselling service at Potchefstroom Hospital: a model for outreach

Aim Breast cancer is the most prevalent cancer in South African females, making up 27.1% of all histologically diagnosed cancers in 2020. Although genetic technology and awareness of genetic counselling have improved, genetic counselling services in South Africa remain largely inaccessible. Clinical genetic services are only formally available in four South African provinces and few outreach programmes exist for small towns and cities. Until 2019, genetic counselling services were unavailable in the North West province; however, since then, genetic counsellors from the National Health Laboratory Service and the University of the Witwatersrand have provided genetic counselling services to patients at the Breast Clinic at Potchefstroom Hospital regularly each year. Method The aim of this pilot study was to perform a retrospective file review and report on the implementation and outcomes of the genetic counselling service at the Breast Clinic at Potchefstroom Hospital, from its inception in 2019, until November 2022. Fifty-two patients attended a genetic counselling consultation during that period. Results The majority of patients (83.7%) were diagnosed with an invasive ductal carcinoma, and 57.7% of the patients had a family history of cancer. A total of 62.8% of patients had a histologic grade 3 tumour. A total of 25.5% (12/47) of patients tested positive for a pathogenic variant in BRCA1 or BRCA2. A total of 45 at-risk first-degree relatives were identified who could benefit from predictive testing. Conclusions This study highlights the benefit of offering clinical genetics services through outreach clinics. Being able to offer this service is not only beneficial for the management of the affected individuals, but also for their at-risk relatives. The initiative serves as a positive example of how limited resources can be extended to benefit patients.

Implementation of hereditary cancer risk assessment in primary care: Intervention strategies and proximal outcomes.

279 Background: Family history-based risk assessment for hereditary breast and ovarian cancer and Lynch syndrome is guideline recommended and has strong evidence supporting its implementation into clinical practice, especially primary care. Yet, adoption has been impeded by limited awareness of genetic evaluation guidelines among primary care providers (PCPs), time constraints in screening during appointments, and limited resources for follow-up within primary care. To close this gap, we implemented a hereditary cancer risk assessment program that addresses these barriers and evaluated proximal implementation outcomes. Methods: We used intervention mapping for adaptation (IM-Adapt), a modified version of Intervention Mapping to guide the adaptation and implementation of the evidence-based 7-question family history screening (FHS-7) at a primary care clinic within an academic medical center. FHS-7 was adapted for administration via electronic patient portal prior to PCP visit or in-person at PCP visit. All clinic patients were offered screening and follow-up genetic counseling and testing per guidelines. Administrative, programmatic, and electronic medical record data were analyzed for program evaluation. Results: Between February 2023 and March 2024, 4,540 primary care patients were offered hereditary cancer risk assessment and 3,497 (77%) completed screening. Patient portals were used to complete screening more frequently than in-person at the clinic (86.6% vs 13.4%). Among patients with qualifying family history of cancer (n=1,267, 36%), 1,117 (88%) were eligible for navigation as they completed their primary care appointment and did not undergo genetic counseling within the last 5 years. Of the eligible patients, 62% were successfully contacted by a navigator and offered genetic counseling. Program implementation was facilitated by key personnel (clinical champion, informatics staff, genetic patient navigator) and adaptations to fit the implementation setting (adapting FHS7 for patient self-report rather than administration by PCP, patient population with high patient-portal adoption rate and in-house genetic service resources). Conclusions: We demonstrate the feasibility of hereditary cancer risk assessment within primary care and describe actionable aspects of the implementation context that influence screening uptake that can be incorporated into the design of future implementation for maximum impact. Findings advance the state of science in identification of unaffected individuals with inherited cancer susceptibility and genetic service delivery.

Abstract A147: A ten-year overview of cancer genetic family history screening in Georgia’s Latina population

Abstract Introduction: Population-based cancer genetic family history screening to identify families at high risk for BRCA-associated cancers has been endorsed by national public health policies. This report aimed to describe the utilization of family history screening services from 2013 to 2022 according to rurality and socioeconomic deprivation among the Latina community in the state of Georgia. Methods: Self-identified Latina women who attended a medical appointment at participating Georgia Public Health Clinics were invited to utilize the cancer genetic family history screening services. Screening results and participant zip code were reviewed. Area deprivation index (ADI) was measured at the census block group level and assessed as a dichotomous variable (more deprived and less deprived). Rurality was measured through Rural-Urban Commuting Area (RUCA) codes and was assessed dichotomously (urban and rural). The ADI and RUCA codes were linked to participant data by zip code to characterize genetic service access among the Latina community. Results: We found 9,330 (3.31%) adult Latinas in Georgia completed cancer genetic family history screening from 2013-2022. In this sample, 9,066 (97.17%) women screened negative, and 264 (2.83%) women screened positive (i.e., family history suggestive of higher risk for carrying BRCA1/2 mutations compared to the general population). The family history screening program reached Latinas in 16 of 18 public health districts in Georgia. However, family history screening completion varied significantly across the 16 districts (mean=327 women, range: 2 - 1,337). FH screening completion was higher among Latinas in urban areas (n=7,871) than Latinas in rural areas (n=1,459). Latinas who lived in more socially deprived areas appeared to have a higher number of screening completion (n=5,207) than those living in less socially deprived areas (n=4,123) due to interaction with urbanicity. Conclusions: Georgia’s family history screening program was able to reach Latina women across the state of Georgia, particularly those living in urban, socially deprived areas. To ensure equitable cancer genetic screening dissemination, future efforts should prioritize tailored outreach in rural regions and a comprehensive evaluation to identify key determinants of screening trends among Georgia’s Latina population. Citation Format: Dayanna A. Ramírez León, Lauren E. Barber, Sheryl Gabram-Mendola, Cindy Snyder, Susan Vadaparampil, Lindsay Fuzzell, Lauren E. McCullough, Lynn Durham, Yue Guan. A ten-year overview of cancer genetic family history screening in Georgia’s Latina population [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr A147.

Abstract B055: Engaging Black and African American community members to develop culturally appropriate methods for cancer genetics education, risk assessment, and referral to research studies and clinical services: A community café approach

Abstract Background: Patients who have a potentially hereditary cancer (e.g., breast, ovarian, prostate) and self-identify as Black or African American (AA) are less likely to receive cancer genetic services than their White peers. Prior research indicates that the lack of consistent identification and referral of test-eligible patients and their family members is a significant barrier to receiving this care. Additionally, AA patients who do reach these services are much more likely than White patients to receive genetic test results that contain a variant of unknown significance (VUS). This disparity is largely attributable to the lower proportion of non-White patients included in cancer genetic research and clinically derived datasets. Developing culturally appropriate, community-informed, and community-based approaches to improve access to cancer genetic research and clinical care is critical to reducing these disparities. Methods: We used a community and patient engaged research (CPER) framework to develop and implement a series of community cafés. The foundation of the community café model is bi-directional engagement that emphasizes the critical roles of cultural awareness, empathy, and trust in healthcare and research improvement. Accordingly, we developed two brief educational modules that oriented café participants to the topics of 1) genetics and diversity in cancer research and 2) the role of family history in cancer risk assessment. Each ∼10 minute module was followed by a 30-40 minute facilitated listening session, enabling café participants to provide substantial feedback on both topics. Sessions were structured to generate input on the development of training and practice support materials for community health workers (CHWs) in the next phase of this research project. Note takers summarized the discussion at the end of each session, providing café participants an opportunity to revise or elaborate upon the written notes. Café sessions were also audio recorded for future transcription. Results: Eight community cafes were held from January-May 2024. Six cafes consisted of 121 AA community members (75.8% female; mean age = 53.4 years), most of whom had either been diagnosed with cancer (29.8%) or had a first-degree relative with cancer (31.4%). Two cafes enrolled a total of 21 CHWs (90.5% female; mean age = 45.4 years). Several actionable themes emerged during the listening sessions, including: clear explanations regarding why AA patients are being recruited into cancer genetic research studies, acknowledging harms of past race-based research; increased awareness of CHWs and how they can help build trust and bridge gaps between community members and academic medical centers. Café participants strongly endorsed increased presence of clinicians and researchers in community settings and increased representation of Black or African Americans on clinical and research teams. Impact: The community café approach was well received by community members, generating important input into the development of a community-based, equity-focused intervention. Citation Format: Erin Linnenbringer, Briana Wilson, Kayla Wallace, Anjali Kunavarapu, Charles Cogshell, Bailey Martin-Giacalone, Meera Muthukrishnan, Brett Maricque, Jessica Mozersky, Bettina Drake, Joyce Balls-Berry. Engaging Black and African American community members to develop culturally appropriate methods for cancer genetics education, risk assessment, and referral to research studies and clinical services: A community café approach [abstract]. In: Proceedings of the 17th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2024 Sep 21-24; Los Angeles, CA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2024;33(9 Suppl):Abstract nr B055.

The “Latines Lideres En Salud (LaLiSa)” study: Rationale and design

BackgroundLatines suffer from breast cancer (BC), due to elevated biological and social determinants of health (SDOH) risks. This study compares the effects of different strategies on uptake of cancer genetic services, specifically hereditary cancer risk assessment, genetic counseling, and genetic testing, and risk-based BC care. Design/methodsIn Chicago, Illinois, Aim 1 participants are recruited from a federally qualified health center (FQHC) and community venues. For Aim 1, eligible participants: (1) are female; (2) are Latine; (3) are 30+ years old; (4) have personal or family history of BC or cancers with shared hereditary mutations; (5) have at least one SDOH risk; and (6) have not received any cancer genetic services. Participants are randomly assigned to different study arms. Both arms include phone-based sessions, FQHC-based navigation for SDOH, and low- or no-cost cancer genetic services. The educate sessions focus on risk assessment and prevention. The empower sessions focus on risk assessment and equip participants with the skills to share information about FQHC-based cancer genetic services. For Aim 2, eligible participants are: (1) female; (2) network members of Aim 1 participants; and (3) eligible for BC screening based on guidelines recommended by the American Cancer Society (ACS). Primary outcomes include uptake of any cancer genetic services. Analyses will also explore intervention differences by neighborhood context. DiscussionThis is one of the first trials focused on Latines' participation in cancer genetic services and risk-based BC care within the context of SDOH - which has major implications for equity in precision cancer prevention.

Uptake of Cancer Genetic Services for Chatbot vs Standard-of-Care Delivery Models: The BRIDGE Randomized Clinical Trial.

Increasing numbers of unaffected individuals could benefit from genetic evaluation for inherited cancer susceptibility. Automated conversational agents (ie, chatbots) are being developed for cancer genetics contexts; however, randomized comparisons with standard of care (SOC) are needed. To examine whether chatbot and SOC approaches are equivalent in completion of pretest cancer genetic services and genetic testing. This equivalence trial (Broadening the Reach, Impact, and Delivery of Genetic Services [BRIDGE] randomized clinical trial) was conducted between August 15, 2020, and August 31, 2023, at 2 US health care systems (University of Utah Health and NYU Langone Health). Participants were aged 25 to 60 years, had had a primary care visit in the previous 3 years, were eligible for cancer genetic evaluation, were English or Spanish speaking, had no prior cancer diagnosis other than nonmelanoma skin cancer, had no prior cancer genetic counseling or testing, and had an electronic patient portal account. Participants were randomized 1:1 at the patient level to the study groups at each site. In the chatbot intervention group, patients were invited in a patient portal outreach message to complete a pretest genetics education chat. In the enhanced SOC control group, patients were invited to complete an SOC pretest appointment with a certified genetic counselor. Primary outcomes were completion of pretest cancer genetic services (ie, pretest genetics education chat or pretest genetic counseling appointment) and completion of genetic testing. Equivalence hypothesis testing was used to compare the study groups. This study included 3073 patients (1554 in the chatbot group and 1519 in the enhanced SOC control group). Their mean (SD) age at outreach was 43.8 (9.9) years, and most (2233 of 3063 [72.9%]) were women. A total of 204 patients (7.3%) were Black, 317 (11.4%) were Latinx, and 2094 (75.0%) were White. The estimated percentage point difference for completion of pretest cancer genetic services between groups was 2.0 (95% CI, -1.1 to 5.0). The estimated percentage point difference for completion of genetic testing was -1.3 (95% CI, -3.7 to 1.1). Analyses suggested equivalence in the primary outcomes. The findings of the BRIDGE equivalence trial support the use of chatbot approaches to offer cancer genetic services. Chatbot tools can be a key component of sustainable and scalable population health management strategies to enhance access to cancer genetic services. ClinicalTrials.gov Identifier: NCT03985852.

ThP1.7 - Moving to a specialist nurse-led service for genetic testing in breast cancer

Abstract Aims To assess the impact of a genetics nurse led clinic in breast cancer patients treatment. Methods A specialist, nurse-led breast cancer genetics service was set up in September 2022 for patients meeting the R208 and R444 criteria. A prospective data collection was performed from September 2022 to October 2023 and included patient demographics, test result and if the result led to any alteration in management of patient. Results 78 eligible patients, with a mean age of 52.8 (31-90) years. 4 (5.1%) were male. 1 (1.3%) patient declined testing, a further 1 (1.3%) patient was undecided and 1 (1.3%) wished for storage only. Patients waited 1-2 weeks following a breast cancer diagnosis to see the nurse specialist and 4-6 weeks for urgent results. The pathogenic variants identified were BRCA1 (5.3%), BRCA2 (6.7%), CHEK2 (2.7%) and PALB2 (1.3%). Of the remainder 84% of patients tested negative. Altered management occurred in 8 (10.7%) patients, 4 (50%) received risk reducing surgery, 2 (25%) received Olaparib and 2 (25%) received Olaparib and underwent risk reducing surgery. Conclusion The move to a nurse-led service has proved to be successful in terms of reduced waiting times for genetic testing appointments and results. It also ensured that all appropriate patients with breast cancer were offered genetic testing, leading to more effective and efficient treatment decisions, such as risk reducing surgery and tailored chemotherapy which could improve long-term health outcomes.

Digital innovation for cancer risk assessment allows large-scale service redevelopment of regional cancer genetics service delivery.

Family-history assessment can identify individuals above population-risk for cancer to enable targeted Screening, Prevention and Early Detection (SPED). The online patient-facing cancer Family History Questionnaire Service (cFHQS) is a digitalised, resource efficient tool for family history data capture to facilitate this. The capturing of digital data from cFHQS allows for data interrogation of patients referred to Clinical Genetics for the purposes of service improvement. Digital data from 4,044 cFHQS respondents over a three-year period was collected and interrogated with respect to the number and type of familial tumour diagnoses to enable service improvement and streamlining of referral pathways. 81% of colorectal and 71% of breast screening assessments were population- or moderate-risk. Most patients who completed cFHQS reported more than one diagnosis of cancer/tumour/polyps in their family. 2.5% of family history assessment patients had a second indication that required assessment that would have been missed if single tumour type assessment was undertaken. Implementation of an innovative, digital family history data collection pathway has allowed large scale interrogation of referral patterns and assessment outcomes to enable service development. The high volume of inappropriate referrals to Clinical Genetics for population and moderate risk patients highlighted the need for dedicated secondary care pathway provision for these patients. The use of cFHQS streamlined family history assessment allows for redistribution of resources to improve equity and access to genetic cancer risk assessment.

Uptake of germline cancer genetic services in a randomized trial of remote telehealth services as compared to usual care: A report from the Childhood Cancer Survivor Study (CCSS).

10009 Background: Limited access to genetic services in community practices, leaves many childhood cancer survivors who are genetic carriers unidentified and at risk for subsequent malignant neoplasms (SMNs) due to therapy or an inherited cancer predisposition. The ENGaging and Activating cancer survivors in Genetic services (ENGAGE) study evaluated the effectiveness of an in-home, collaborative PCP (primary care provider) model of remote centralized telehealth services to increase uptake of cancer genetic services in survivors compared to usual care. Methods: 414 survivors were randomized to remote services by phone or videoconference (n = 281) or usual care (n = 133). The primary outcome was uptake of genetic counseling or testing at 6 months. In secondary analyses we evaluated baseline characteristics and patient reported outcomes associated with uptake of services. We used Fisher’s Exact tests, Chi-squared tests, and T-tests for analyses. Results: Participants were identified through the NCI-funded Childhood Cancer Survivor Study and included 189 (45.7%) male, 88 (21.1%) nonwhite participants with mean age 52 years (SD 0.65), recruited from over 40 states with a history of CNS tumors (n = 190, 46%), sarcoma (n = 116, 28%), or SMN or a family history of cancer (n = 108, 26%). At 6 months, 40% (n = 113) of survivors in the remote telehealth services arms utilized genetic services as compared to 16% (n = 21) in the usual care arm (p < 0.001). Factors associated with uptake of services included lower baseline genetic knowledge score (31.0, SD 5.8 without uptake versus 29.7, SD 5.1 with uptake, p = 0.025), having more relatives with cancer (1.6, SD 1.5, without uptake versus 2.0, SD 1.8 with uptake, p = 0.019), having a higher perceived risk of cancer on a Likert scale (3.6, SD 1.0 without uptake versus 3.9, SD 0.8 with uptake, p = 0.011), having a history of internet use (35% uptake with use versus 0% without use, p = 0.040), and not having a high deductible plan (30% uptake with high plan versus 42% without, p = 0.025). Having a higher positive attitude toward genetic testing score (e.g. higher perceived value, lower perception of high cost and lower anticipated distress) was associated with uptake of services (29.5, SD 4.3 without uptake versus 31.2, SD 4.4 with uptake, p < 0.001). Conclusions: These data suggest that offering remote centralized telehealth genetic services increases the uptake of genetic services in survivors of childhood cancer across the US using a collaborative PCP model. Although uptake was higher than usual care, barriers to uptake of genetic services remain, including concerns about cost and negative perceptions about genetic testing. Strategies to address multi-level barriers to genetic services are needed to realize the potential of genetic testing in childhood cancer survivors and patients in community practices. Clinical trial information: NCT04455698 .

Lessons learned in migrating from one commercial genetics decision-support tool to another: Assessment of data integrity and utilization readiness.

e23232 Background: Rapid advancements in health information technology have greatly influenced how clinicians engage with patient health data. In the context of clinical genetics, the electronic health record (EHR) often contains a wide array of data to identify patients at elevated risk for hereditary cancer syndromes. However, these data often exist in multiple forms and disparate locations, which in the presence of numerous commercial EHR solutions, results in significant variations in how institutions codify genetic data. Furthermore, within an institution, there is often internal pressure to migrate from one support tool to another, necessitating a focus on data integrity during such a transition. Methods: Fred Hutchinson Cancer Center (Fred Hutch) is a large academic cancer care center associated with the University of Washington. Between July and December 2023, the Fred Hutch Clinical Cancer Genetics and Genetic Counseling Service migrated their family history database from commercial pedigree software, Progeny, to another commercial pedigree and decision-support tool, CancerIQ. Following completion of the data migration on more than 13,000 patient records, study team planned to review a total of 500 randomly selected patient charts in both support tools. Each chart was reviewed to determine: (1) the presence of genetic intake information, (2) the presence and results of genetic testing, if available, and (3) whether the patient met National Comprehensive Cancer Network (NCCN) criteria for testing. A chart was noted to be concordant between the two support tools if there was agreement in all three of the above. Results: So far, a total of 240 patient charts were reviewed between the two support tools. Of these, 226 (94.2%) were noted to be fully concordant. Of the 14 charts that were noted to be discordant, the distribution of the discordant data was: 5 charts differed on whether genetic testing had been ordered, 5 charts differed on the results of the testing (often omitting one or more variants), and 4 differed on whether the patient met NCCN criteria for testing. Conclusions: At our institution, there was high data integrity following migration from one commercial and pedigree-generating software solution to another. While these results can ease clinician concerns following such support tools transitions, it also highlights areas for improvement in how family and patient genetic data is recorded.

Adherence to cancer screening for patients with Li-Fraumeni syndrome: A report on our experience at Fred Hutchinson Cancer Center.

e22553 Background: Li-Fraumeni syndrome (LFS) is a high-risk cancer predisposition syndrome where patients are at risk of developing multiple primary cancers, synchronous, and metachronous cancers in their lifetimes. Patients with LFS often serve as their own advocates to request and receive appropriate cancer screening as few clinicians have experience in caring for them and few clinics are adequately staffed to provide complex cancer screening coordination. Methods: Fred Hutchinson Cancer Center (Fred Hutch) is a large academic cancer care center associated with the University of Washington. In July 2020, Fred Hutch's clinical cancer genetic service launched a high-risk surveillance clinic for patients with hereditary cancer syndromes requiring services from multiple specialties. Our clinic has since helped patients with LFS receive coordinated cancer screening. Here we report on adherence to the Toronto protocol by reviewing patient demographic, cancer history and family history, and genetic records. Furthermore, we report on the number of visits, types of screening, and cancer diagnoses patients with LFS received since enrolling in the high-risk clinic. Results: A total of 112 patients with LFS were seen in the high-risk surveillance clinic between July 2020 and December 2023. Of these patients’ paths reviewed so far, 73 patients established with the clinic and received blood work and/or MRI imaging scans, and 42 were seen in at least one follow up visit. 2 patients with LFS were diagnosed with one or more new cancer diagnosis since enrollment, both have completed treatment, and both are without evidence of disease as of February 2024. Conclusions: The high-risk surveillance clinic was promptly utilized by patients with LFS for coordination of their complex cancer screening needs and to guide their next steps when triaging symptoms and concerns. While the clinic addresses a gap in cancer screening coordination, patients with LFS need wrap around care close to where they live which is difficult to accomplish in the Pacific Northwest.

Leveraging real-world data from multiple institutions to assess the rate of bilateral mastectomy after cancer genetics evaluations with genetic counselors.

e22551 Background: Genetic counselors (GCs) assess patients’ risk of cancer and counsel them on cancer screening and preventative measures, based on national guidelines. Prior studies have found that adherence to guideline-based care is higher after genetic counseling. Thus care provided by GCs leads to a variety of imaging and surgical services that can both improve patient outcomes and generate revenue for health systems, which can in turn help financially support cancer genetics programs. Research that quantifies such downstream services and revenue is lacking. We aimed to address this gap by using real-world data from multiple institutions to quantify the rate of bilateral mastectomies occurring after cancer genetics evaluations performed by GCs. Methods: We studied consecutive patients from a nationwide telehealth practice who underwent genetic counseling and cancer risk assessment with a GC after having germline genetic testing. Structured data obtained from multiple care sites via health information networks and manual chart review of electronic medical records was utilized to determine whether patients had bilateral mastectomies after the GC appointment. Results: Of the 460 consecutive patients seen by a GC, 30 were advised to consider bilateral mastectomy, based on their genetic test results and national guidelines. Data was available from the health information networks for all (29/29 (100%)) of these patients who live in the United States, with a mean follow-up of 2.7 years (SD 0.23). These 29 patients had a mean age of 43.3 years (SD 15.3), were all female, and carried mutations in BRCA2 (18/29 (62%)), BRCA1 (6/29 (21%)), or PALB2 (5/30 (17%)). Clinical data was collected from 468 locations, a median of 23 unique locations per patient. At the time of the GC appointment, 7/29 (24%) had active breast cancer, 19/29 (66%) were unaffected, and 3/29 (10%) had a history of previously treated breast cancer. Two patients were diagnosed with breast cancer after the GC appointment. 15/29 (52%) patients underwent bilateral mastectomy after the GC appointment, including most patients with active breast cancer (7/9 (78%)), 8/17 (47%) unaffected patients, and none (0/3 (0%)) with a previously treated breast cancer. Among those without breast cancer, the mean time from the GC appointment to the bilateral risk-reducing mastectomy was 8.6 months (SD 4.4). Conclusions: Half of patients who had bilateral mastectomy indicated because of their genetic test results elected to have mastectomy done after discussion of this guideline-based care option with a GC. As evidenced in prior research, bilateral mastectomy markedly reduces risk of breast cancer. In addition to improved patient outcomes, the revenue a health system receives from these surgeries can also help to support cancer genetics services.

Abstract 7333: From provider discussion to test completion: Evaluating cancer genetic services in a diverse academic comprehensive cancer care population

Abstract Objective: Genetic testing (GT) and counseling (GC) are important aspects of comprehensive cancer care, yet persistent equity challenges exist. We aim to characterize the evolving utilization of GT and GC services for potential hereditary breast, ovarian, pancreatic, and prostate cancers (HBOPP). Methods: We performed a retrospective single-institution chart review of a balanced racial subset of HBOPP patients who met National Comprehensive Cancer Network (NCCN) criteria diagnosed from 2019-2013. Data were analyzed using chi-squared test and multivariable logistic regression. Results: 503 HBOPP patients were studied. GT was discussed with 50.5% (n=254) of patients, 42.3% (n=213) completed GT, but only 8.7% had GC (n=44) (Table 1). Patients who were younger, had managed care, or had a family history of cancer were significantly more likely to have a GT discussion and complete GT (all p<0.01). Pancreatic cancer (RR 0.11; 95% CI 0.05-0.21) and prostate cancer patients (RR 0.05; 95% CI 0.02-0.10) were less likely to have a GT discussion with their provider than breast cancer patients. HBOPP patients had a lower likelihood of having a GT discussion with each additional year of age at diagnosis (RR 0.95; 95% CI 0.93-0.98). Among patients who had a GT discussion, prostate cancer patients (RR 0.14; 95% CI 0.04-0.47) and Black patients (RR 0.25; 95% CI 0.09-0.71) were less likely to complete GT. Ovarian cancer patients (RR 12.1; 95% CI 5.19-28.5) and patients with a family history of cancer (RR 2.26; 95% CI 1.05-4.86) were more likely to have GC. Conclusions: Inequities persist in GT and GC. NCCN-eligible patients who were older or had prostate or pancreatic cancer were less likely to have GT discussion. We found that Black patients were less likely than White patients to complete GT. GC rates were low across all groups except patients with ovarian cancer. Multilevel and systemic interventions are needed to improve equity in cancer genetic services. Access to, completion, and outcomes of genetic testing and counseling, by cancer type. Breast (n=212) Ovarian (n=48) Pancreatic (n=105) Prostate (n=138) Total (n=503) Test (p) Was there evidence a provider discussed and/or offered genetic testing? Yes 172 (81.1%) 36 (75.0%) 26 (24.8%) 20 (14.5%) 254 (50.5%) <0.001 No 40 (18.9%) 12 (25.0%) 79 (75.2%) 118 (85.5%) 249 (49.5%) Is there any evidence that the patient received genetic testing? Yes 155 (90.1%) 32 (88.9%) 18 (69.2%) 8 (42.1%) 213 (84.2%) <0.001 No 17 (9.9%) 4 (11.1%) 8 (30.8%) 11 (57.9%) 40 (15.8%) What were the patients results? Mutation positive 25 (16.3%) 5 (15.6%) 2 (11.1%) 0 (0.0%) 32 (15.2%) 0.095 Mutation negative 83 (54.2) 12 (37.5%) 13 (72.2%) 3 (37.5%) 111 (52.6%) Variant of unknown significance 43 (28.1%) 13 (40.6%) 3 (16.7%) 4 (50.0%) 63 (29.9%) No info available/cannot find 2 (1.3%) 2 (6.2%) 0 (0.0%) 1 (12.5%) 5 (2.4%) Was there evidence of any genetic counseling encounter? No 195 (92.4%) 27 (57.4%) 102 (97.1%) 133 (96.4%) 457 (91.2%) <0.001 Yes 16 (7.6%) 20 (42.6%) 3 (2.9%) 5 (3.6%) 44 (8.8%) Citation Format: Ariana Naaseh, Hannah Rice, Isabel Temosihue, Natasha Zimmermann, Erin Linnenbringer. From provider discussion to test completion: Evaluating cancer genetic services in a diverse academic comprehensive cancer care population [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2024; Part 1 (Regular Abstracts); 2024 Apr 5-10; San Diego, CA. Philadelphia (PA): AACR; Cancer Res 2024;84(6_Suppl):Abstract nr 7333.

Delivery of hereditary cancer genetics services to patients newly diagnosed with ovarian and endometrial cancers at three gynecologic oncology clinics in the USA, Brazil, and Mexico

ObjectiveThree gynecologic oncology clinics located in the USA, Brazil, and Mexico collaborated to evaluate their delivery of hereditary cancer genetics services. This descriptive retrospective review study aimed to establish baseline...

The ENGAGE study: a 3-arm randomized hybrid type 1 effectiveness and implementation study of an in-home, collaborative PCP model of remote telegenetic services to increase uptake of cancer genetic services in childhood cancer survivors

BackgroundGermline cancer genetic testing has become a standard evidence-based practice, with established risk reduction and screening guidelines for genetic carriers. Access to genetic services is limited in many places, which leaves many genetic carriers unidentified and at risk for late diagnosis of cancers and poor outcomes. This poses a problem for childhood cancer survivors, as this is a population with an increased risk for subsequent malignant neoplasms (SMN) due to cancer therapy or inherited cancer predisposition. The ENGaging and Activating cancer survivors in Genetic services (ENGAGE) study evaluates the effectiveness of an in-home, collaborative PCP model of remote telegenetic services to increase uptake of cancer genetic testing in childhood cancer survivors compared to usual care options for genetic testing.MethodsThe ENGAGE study is a 3-arm randomized hybrid type 1 effectiveness and implementation study within the Childhood Cancer Survivor Study population which tests a clinical intervention while gathering information on its delivery during the effectiveness trial and its potential for future implementation among 360 participants. Participants are randomized into three arms. Those randomized to Arm A receive genetic services via videoconferencing, those in Arm B receive these services by phone, and those randomized to Arm C will receive usual care services.DiscussionWith many barriers to accessing genetic services, innovative delivery models are needed to address this gap and increase uptake of genetic services. The ENGAGE study evaluates the effectiveness of an adapted model of remote delivery of genetic services to increase the uptake of recommended genetic testing in childhood cancer survivors. This study assesses the uptake in remote genetic services and identify barriers to uptake to inform future recommendations and a theoretically-informed process evaluation which can inform modifications to enhance dissemination beyond this study population and to realize the benefits of precision medicine.Trial registrationThis protocol was registered at clinicaltrials.gov (NCT04455698) on July 2, 2020.