Cancer Genetic Counseling Research Articles

An eMERGEing definition of patient engagement in genetic counseling.

The concept of patient engagement has been widely studied for decades in the fields of medicine, nursing, psychology, social science, public health, and policy, and increased levels of patient engagement have been shown to improve health outcomes and strengthen reported experiences of care. Despite this, little research has been done to evaluate what patient engagement looks like within the context of a genetic counseling session. Additionally, there is limited literature from researchers based in the United States that aims to better understand patient engagement in non-English-speaking populations. This study is part of a larger protocol entitled "Multilingual Education Research in Genetic counseling Engagement (MERGE)," and it explores the elements that make up patient engagement in the context of pre-test genetic counseling for hereditary cancer risk among English- and Spanish-speaking patients. Eligible patients were 18 years or older at the time of their genetic counseling visit, had a personal or family history of breast cancer (if English-speaking) or a personal or family history of any cancer (if Spanish-speaking), and had not previously been seen for hereditary cancer genetic counseling. Out of 40 enrolled participants, 60% of patients (24/40) were English-speaking, while 40% of patients (16/40) were Spanish-speaking. In this study, English transcripts were generated from audio-recordings of clinical, standard-of-care genetic counseling sessions. The transcripts were qualitatively coded by two raters using an inductive approach, allowing for big Q thematic analysis. Six major themes were identified, describing ways in which patients show engagement and participate in decision-making during a pre-test genetic counseling session. All data were analyzed collectively, as assessment of differences between the language groups was not a primary analysis question. From the six themes, a definition of patient engagement in genetic counseling is proposed such that it consists of four "components" that together promote shared decision-making: Application of Education; Expression of Emotions; Feelings of Ownership; and Therapeutic Alliance. This working definition of patient engagement in genetic counseling has overlap with previous research on patient engagement in healthcare and with the Reciprocal-Engagement Model of genetic counseling. Future research on this topic can investigate methods for measuring and improving patient engagement across different settings and service delivery models.

The ACTION Study: Addressing global inequities in breast cancer genetic testing, counselling, and management among breast cancer patients in Nigeria - A Healthcare Provider Educational Program

The ACTION Study: Addressing global inequities in breast cancer genetic testing, counselling, and management among breast cancer patients in Nigeria - A Healthcare Provider Educational Program

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.

Randomized control trial comparing genetic counseling service delivery models in an underserved population.

This randomized controlled trial compares outcomes of telephone versus in-person genetic counseling service models in underserved, bilingual patient populations referred for cancer genetic counseling. Between 2022 and 2023, a two-arm (telephone vs. in-person genetic counseling) prospective, randomized controlled study with 201 participants was conducted at two county hospital cancer genetics clinics. Primary outcomes included comparison of pre- and post-genetic counseling genetics knowledge (Multi-dimensional Model of Informed Choice, MMIC), genetic counseling visit satisfaction (Genetic Counseling Satisfaction Scale, GCSS), and genetic counseling visit completion rates. Secondary outcomes included comparison of genetic testing attitudes and informed choice (MMIC), genetic counseling-specific empowerment (Genomic Outcomes Scale, GOS), and genetic testing completion and cancellation/failure rates, using linear regression models (significance ≤0.05). There were no statistically significant differences between arms in pre/post-genetic counseling MMIC knowledge and attitude, GOS or GCSS scores or genetic counseling completion. While more participants in the telephone versus in-person arm made an informed choice about testing (52.5% v. 39.0%, p = 0.0552), test completion was lower (74% v. 100%, p < 0.05) for this group. Genetic counseling completion rates and MMICknowledge and attitude, GOS, and GCSS scores suggest telephone genetic counseling is comparable to in-person genetic counseling for underserved populations. Higher informed choice scores and significantly lower testing completion rates for telephone visits require further study.

Cancer genetic counseling via telegenetics and telephone: A qualitative study exploring the experience of patients and genetic counselors in an Australian cancer genetics context.

The demand for direct-to-patient (DTP) telegenetics (genetics services delivered via videoconferencing) in genetic counseling practice has rapidly increased, particularly since the COVID-19 pandemic. Recent telegenetics literature is mostly quantitative and not in the Australian context. A qualitative interview study was conducted to address this gap. This research investigated the experiences of patients and genetic counselors (GCs), enrolled in a randomized controlled trial, using telegenetics and telephone for cancer genetic counseling appointments. Twenty-eight semi-structured interviews with patients (n = 22) and GCs (n = 6) were conducted following patient randomization to either a telephone or telegenetics genetic counseling appointment. The interviews explored participant's experiences of telegenetics and compared DTP telegenetics with telephone and in-person delivery. Codebook thematic analysis was used to develop topic summaries from the data. Patient and GC participants noted positive experiences of telegenetics; with key benefits reported as reduced travel time, time and cost saving, ease, convenience, efficiency, and comfortability. Technical issues and privacy concerns were highlighted as potential disadvantages of telegenetics. All but one patient felt sufficiently emotionally supported while using telegenetics. Telegenetics has both benefits and limitations; however, generally, this cohort found telegenetics to be a suitable and acceptable mode of delivery for genetic counseling with many advantages over in-person or telephone appointments. Further studies should be conducted to provide evidence for the long-term implementation of telegenetics, regardless of any future COVID-19 pandemic lockdown restrictions.

Cancer genetic counseling in Chile: Addressing barriers, confronting challenges, and seizing opportunities in an underserved Latin American Community

PurposeDespite the rapid advancements in genomics and the enactment of a new cancer law in Chile, the implementation of cancer genetic counseling continues to face significant challenges because of limited resources and infrastructure. MethodsWe conducted a survey targeting health care providers who offer genetic counseling to patients with cancer and possess training in genetics and counseling. Additionally, we distributed a separate survey to high-risk patients associated with an advocacy group to gather insights on their perceptions of and experiences with cancer genetic counseling. ResultsAmong the surveyed providers, 21% were nonmedical professionals who developed their skills through postgraduate continuing education programs. Germline testing was not performed in 47% of cases. Among the participants, 37% considered genetic counseling important for understanding the cause of their cancer, 25% valued knowing their risk of developing future tumors, and 33% believed it would benefit their current cancer treatment. Just over half of the patients (54%) had access to genetic counseling. Among those that received genetic counseling, 85% found it beneficial. ConclusionIn Chile, barriers to genetic counseling persist, particularly in rural areas and because of a shortage of trained professionals. Public policies recognizing genetic counseling’s importance are crucial, along with expanding training and infrastructure. Understanding patient perceptions and increasing the number of trained genetic counseling into cancer care, educating clinicians, and advocating for increased access are key steps for enhancing cancer treatment effectiveness in Chile.

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.

Abstract C125: Improving access to genetic counseling and testing for underserved populations through telehealth

Abstract Introduction: A lack of access to genetic counseling for hereditary cancer risk in rural and underserved areas is well-documented and can exacerbate disparities in cancer risk reduction and early detection. Telehealth has the potential to bridge this gap, providing remote access to specialized care. The COVID-19 pandemic accelerated telehealth availability, allowing estimation of the causal effects of shifting to a model of virtual care delivery for genetic counseling services. Methods: The Stanford Cancer Genetic Counseling Clinic provided solely in-person care at two clinical sites (Palo Alto and San Jose, CA) until March 2020, and solely virtual care from April 2020 onward. We performed a regression discontinuity design, allowing outcomes comparison before and after the threshold of early 2020, to evaluate the impact of telehealth genetic counseling on access to care for patients living in areas of higher deprivation. The assignment variable (the exposure measured before versus after the threshold) was the three-month period during which the patients were seen, with the March-May 2020 quarter excluded because of disruption of care during the early COVID-19 pandemic. The primary endpoint was proportion of patients whose primary residence zip code had a state area deprivation index of at least 4. Secondary endpoints included driving distance to the primary clinic location in Palo Alto, CA, insurance type, race/ethnicity, and primary language. Results: The study included N=5,957 patients seen in the Stanford Cancer Genetics Program between January 2017 and February 2020, and N=9,469 patients seen between June 2020 and April 2024. The regression discontinuity analysis revealed a significant discontinuity at the threshold for telehealth in access for patients living in areas of higher deprivation, who accounted for 22% of patients seen just prior to telehealth implementation and 27% just after telehealth implementation, a proportional increase of 21% (p=0.006). Mean driving distance to Palo Alto, CA also increased, from 49 minutes just prior to the threshold to 56 minutes just after (p=0.003). There were no significant differences in insurance type, race/ethnicity, or primary language across the threshold. Conclusion: The implementation of telehealth services at the Stanford Cancer Genetic Counseling Clinic significantly improved access to genetic counseling for patients from areas with higher deprivation, as evidenced by a 21% increase in the proportion of such patients among those seen. These results quantify the effectiveness of telehealth in reducing geographical and socioeconomic barriers to specialized genetic counseling and testing services. Citation Format: Jennifer L. Caswell-Jin, Hao Tang, Mina Satoyoshi, Kerry Kingham, Allison W. Kurian. Improving access to genetic counseling and testing for underserved populations through telehealth [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 C125.

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.

Cultural, demographic, and other non-demographic factors associated with cancer genetic counseling patients' appointment accompaniment preferences in the United States.

Although the presence of companion(s) in a genetic counseling session can positively influence session dynamics, research has found that some patients prefer to attend their appointments alone. To date, no studies have examined patient accompaniment preferences across different cultural groups in the context of genetic counseling. This quantitative study aimed to identify factors associated with individual preferences in accompaniment at cancer genetic counseling appointments in a sample (N = 130) of Hispanic/Latine (n = 29) and non-Hispanic/Latine White (n = 101) participants at a large academic medical institution. Variables examined included demographics, horizontal and vertical collectivism, and Hispanic and American acculturation. A link to an online questionnaire was emailed to patients who met four criteria: (1) identified as either Hispanic/Latine or non-Hispanic/Latine White; (2) had attended a cancer genetic counseling appointment at UCLA Health to discuss genetic testing options between October 2020 and December 2022; (3) were at least 18 years of age at the time of their appointment; and (4) indicated they were comfortable reading in Spanish or English; responses were anonymous. Logistic regression analyses identified four significant variables in the model associated with accompaniment preferences: individuals with at least one parent born outside of the US, those who attended their appointment in-person, and those with a higher horizontal collectivism score were less likely to want to attend their cancer genetic counseling appointment alone, while the converse was true among those with a higher American acculturation score. These findings highlight cultural and demographic factors that are associated with patient accompaniment preferences unrelated to ethnicity, indicating genetic counselors should not make assumptions regarding accompaniment preferences based solely on cultural or racial/ethnic background. Genetic counselors should incorporate this understanding when assessing patients' accompaniment preferences.

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.

Improving feasibility and timeliness of hereditary cancer risk assessment with a brief patient-administered digital tool and rapidly available telehealth genetic counseling.

10614 Background: Multiple guidelines recommend hereditary cancer risk assessment for all adults, yet it rarely is performed. This is largely due to the time-consuming nature of such assessments and difficulty with access to genetic counseling for those at high risk. We designed a care model to address these issues that is suitable for both oncology and non-oncology settings. It includes a brief patient-administered and clinically validated digital hereditary cancer risk assessment tool, followed by immediate online self-scheduling features for telehealth genetic counseling, with appointments available within 48 hours. The digital tool uses a guideline-based algorithm to assess whether genetic testing for hereditary cancer risk is indicated. Here we aim to evaluate the effectiveness and timeliness of this model. Methods: We conducted a retrospective chart review of consecutive patients that engaged with this model from May 2021 to August 2023 at 32 obstetrics and gynecology clinics. We also used nationwide data from the National Society of Genetic Counselor's (NSGC) Professional Status Survey. To assess timeliness of genetic counseling appointments in this care model, we compared the time from scheduling the appointment to the start of the appointment to wait times at health systems for comparable non-urgent cancer genetic counseling appointments, from the NSGC data. Effectiveness was assessed via rates of completion of the tool and scheduling of genetic counseling. Results: 2538 patients (98% female, mean age 37 years, 3.9% with a personal history of cancer) initiated the care model and 95% (2415/2538) completed the risk assessment tool. A quarter (26% (628/2415)) met criteria for germline genetic testing. The median time to complete the tool was 2.7 minutes (IQR 2.9). At the end of the tool, patients could click a button to schedule an appointment with a genetic counselor to discuss hereditary cancer risk and genetic testing. 44% (274/628) booked an appointment. The median time from scheduling to genetic counseling appointment was 2.8 days (IQR 4.9 days), which is shorter than the median wait time for comparable genetic counseling appointments at health systems in the nationwide NSGC dataset (21 days (IQR 53 days); p&lt;&lt; 0.01). Conclusions: The tool completion rate, rate of patients meeting criteria, and uptake of genetic counseling indicate the model is effective. Timeliness was improved by this model, with the digital tool assessing risk in ~3 minutes, compared to previous reports of ~30 minutes for manual hereditary cancer risk assessment. In addition, the timeliness of genetic counseling appointments was markedly better than the current standard of care. These findings suggest that this care model can support physicians in providing timely guideline-recommended hereditary cancer risk assessment to their patients.

Clients' experiences of empathy in genetic counseling for hereditary breast and ovarian cancer: A qualitative study in Japan.

Empathy is a significant element in genetic counseling for building relationships with the clients and addressing their issues. However, there are few reports on the experiences of the clients about their perceived empathy in genetic counseling. Cancer genetic counseling needs have been rapidly evolving with the expansion of clinical comprehensive genomic profiling and genetic diagnosis approaches for hereditary cancers. Therefore, this study aimed to reveal empathy perceptions of the clients during cancer genetic counseling. Semi-structured interviews were conducted, and a grounded theory approach was used for data analysis. A total of 13 participants were recruited from organizations for patients with cancer, among whom 11 were patients with hereditary breast and ovarian cancer (HBOC) and two were relatives of patients with HBOC. Data analysis was organized into five categories related to experiences with empathy: (i) prior context to perceive empathy (ii) understanding and consideration, (iii) bedside manner, and (iv) impacted area of perceived empathy; and (v) no empathy. This study highlights the fact that empathy experiences of the clients differ depending on the situation and state of mind. Taken together, this study provides new insights on how to deliver empathic care.

Multiple Onychopapillomas and BAP1 Tumor Predisposition Syndrome

BRCA1-associated protein (BAP1) tumor predisposition syndrome (TPDS) is a cancer genodermatosis associated with high risk of uveal and cutaneous melanoma, basal cell carcinoma, and multiple internal malignant neoplasms, including mesothelioma and renal cell carcinoma. Early detection of the syndrome is important for cancer surveillance and genetic counseling of family members who are at risk. To determine the prevalence of nail abnormalities in individuals with pathogenic germline variants in BAP1. In this prospective cohort study, individuals who were known carriers of pathogenic BAP1 germline variants were consecutively enrolled between October 10, 2023, and March 15, 2024. Dermatologic evaluation for nail abnormalities was performed, including a history of nail abnormalities and associated symptoms, physical examination, medical photography, and nail biopsy for histopathology. This was a single-center study conducted at the National Institutes of Health Clinical Center. Primary outcomes were the prevalence and spectrum of nail changes and histopathologic characterization. Among 47 participants (30 female [63.8%]; mean [SD] age, 46.4 [15.1] years) ranging in age from 13 to 72 years from 35 families, nail abnormalities were detected in 41 patients (87.2%) and included leukonychia, splinter hemorrhage, onychoschizia, and distal nail hyperkeratosis. Clinical findings consistent with onychopapilloma were detected in 39 patients (83.0%), including 35 of 40 individuals aged 30 years or older (87.5%). Nail bed biopsy was performed in 5 patients and was consistent with onychopapilloma. Polydactylous involvement with onychopapillomas was detected in nearly all patients who had nail involvement (38 of 39 patients [97.4%]). This study found that BAP1 TPDS was associated with a high rate of nail abnormalities consistent with onychopapillomas in adult carriers of the disease. Findings suggest that this novel cutaneous sign may facilitate detection of the syndrome in family members who are at risk and patients with cancers associated with BAP1 given that multiple onychopapillomas are uncommon in the general population and may be a distinct clue to the presence of a pathogenic germline variant in the BAP1 gene.

Abstract PO3-08-06: Challenges in Implementing Genetic Counseling and Genetic Testing for Breast Cancer: Insights from the First 1000 Families Assessed in a Public University Hospital in Argentina

Abstract Introduction: Integrating genetic testing into breast cancer patients care is crucial for personalized treatment recommendations, risk reduction strategies, and family members evaluation. However, Argentina faces several concerns in implementing these services. Objective: This study aims to explore the challenges encountered in implementing genetic testing for breast cancer, drawing insights from the assessment of the first 1000 patients at a public university hospital in Argentina. Methods: We conducted a retrospective analysis of patients who underwent genetic counseling in our institution from January 2015 to June 2023. We also analyzed patients who underwent surgery from June 2022 to May 2023. Results: 1032 patients were evaluated in our unit. 836 patients (81%) met the National Comprehensive Cancer Network (NCCN) criteria for genetic testing. Genetic testing was requested for 575 patients (68.7%) Only 44% of patients were able to access the test, with 60% receiving only the BRCA1/2 test (see Table 1 and 2 for details). In the analysis of breast cancer surgeries (n=246), 62% (n=154) met the NCCN criteria for genetic testing. However, only 56% of these patients underwent genetic counseling prior to their surgery and only 15 (9.86%) received their results before primary treatment. Discussion Unfortunately, only 9.8% of patients have the results of genetic testing prior to their primary treatment, indicating a critical need for timely referrals and mainstream genetic testing. To counteract, our university hospital's breast cancer unit has taken proactive measures since January 2015. Genetic counseling has been established as a standard of care for all patients, and a streamlined workflow has been implemented to optimize referrals. Trained professionals, including a genetic counselor, psycho-oncologist, and geneticist, have been integrated into core teams. Additionally, healthcare professional continued education has played a pivotal role in improving referrals. Additionally, we have introduced an easy workflow to optimize referrals to genetic counseling. Completion rate of requested genetic tests is concerning, with 56% of tests not being completed, and 60% of the completed tests limited to BRCA1/2. Improving access to genetic testing is imperative. Currently, comprehensive genetic testing is inaccessible to patients without medical coverage, and even those with coverage face difficulties in testing access. Moreover, patient education plays a vital role in promoting the importance of genetic testing and its impact on patient care and their families. In collaboration with the Argentinean Breast Pathology Society, we have developed two informative videos that reinforce knowledge provided by primary care physicians and breast surgeons. Conclusion, Our study is the first in Argentina to analyze the numerous challenges faced in conducting genetic testing for breast cancer in a public hospital. By addressing these challenges collectively, we can facilitate the effective integration of genetic counseling and testing into routine practice for breast cancer patients in Argentina. Table 1: Breast Cancer Genetic Counseling Unit Patients (2015-2023) Table 2: Breast Cancer Genetic Counseling Unit Patients studies (2015-2023) Citation Format: Dolores Mansilla, Diana Bequelman, Jorgelina Cavallero, Hernan Ursino, Berman Gaston, Ipiña Martin, Eduardo Armanasco, Andrea Aguilar, Valeria Caceres, Eugenia Azar. Challenges in Implementing Genetic Counseling and Genetic Testing for Breast Cancer: Insights from the First 1000 Families Assessed in a Public University Hospital in Argentina [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO3-08-06.

The dynamic buffering of social support on depressive symptoms and cancer worries in patients seeking cancer genetic counseling.

Social support is a crucial protective factor against psychological concerns in patients with cancer. However, there is limited knowledge regarding the differential impacts of social support on cancer worries and depressive symptoms in patients undergoing genetic counseling for hereditary cancer. The current study utilized a high-volume database from a multi-site cancer genetics clinic to assess the impact of perceived social support on depressive symptoms and cancer worries among patients of different age groups (young versus older patients) and diagnosis status (diagnosed survivors versus undiagnosed). 6,666 patients completed brief assessments of depressive symptoms, cancer worries, social support, and demographic questionnaires as part of routine clinical care between October 2016 and October 2020. Logistics and moderated regression were used to analyze the relationships between social support, depressive symptoms, and cancer worries. Increased social support was associated with fewer depressive symptoms and fewer cancer worries across all patients. Social support mitigated depressive symptoms most significantly for young adult patients with and without cancer. Social support mitigated cancer worries most significantly for young adults with cancer and older adults without cancer. While results were mixed, general findings upheld original hypotheses. Social support buffered depressive symptoms and cancer worries differentially for patients of different ages and different disease status. Social support groups are beneficial for all patients and should be emphasized by cancer clinics. However, increasing patient-tailored and age-appropriate support networks will be crucial for managing depression and cancer worries for high-risk survivors: young adults with cancer.

Genetic counselors' and community clinicians' implementation and perceived barriers to informed consent during pre-test counseling for hereditary cancer risk.

As demand for genetic cancer risk assessment (GCRA) continues to increase, so does the sense of urgency to scale up efforts to triage patients, facilitate informed consent, and order genetic testing for cancer risk. The National Society of Genetic Counselors outlines the elements of informed consent that should be addressed in a GCRA session. While this practice resource aims to improve health equity, research on how well the elements of informed consent are implemented in practice is lacking. This retrospective and prospective mixed-methods study assessed how adequately the elements of informed consent are addressed during pre-test GCRA among 307 community clinicians (CC) and 129 cancer genetic counselors (GC), and barriers they face to addressing these elements. Results revealed that more than 90% of both cohorts consistently addressed components of at least 5 of the 10 elements of informed consent during a pre-test consultation. Technical aspects and accuracy of the test and utilization of test results were the most similarly addressed elements. Notably, GCs more often review the purpose of the test and who to test, general information about the gene(s), and economic considerations whereas CCs more often review alternatives to testing. Both cohorts reported psychosocial aspects of the informed consent process as the least adequately addressed element. Time constraints and patient-related concerns were most often cited by both cohorts as barriers to optimal facilitation of informed consent. Additional barriers reported by CCs included provider lack of awareness, experience, or education, and availability of resources and institutional support. Findings from this study may contribute to the development of alternative delivery models that incorporate supplementary educational tools to enhance patient understanding about the utility of genetic testing, while helping to mitigate the barrier of time constraints. Equally important is the use of this information to develop continuing education tools for providers.

The history of families at-risk for hereditary breast and ovarian cancer: what are the impacts of genetic counseling and testing?

Cancer Genetic Counseling (CGC) and genetic testing (GT) assume a paramount role for hereditary cancer predisposition syndrome families. We assessed the effects of CGC and GT on women affected by cancer who are at risk for hereditary breast and ovarian cancer predisposition syndrome (HBOC). This study encompasses four time points: before the CGC session, after the CGC session when blood is drawn for GT, after disclosure of GT results, and six months following disclosure of GT results. The impacts of CGC and GT were assessed using psychosocial questionnaires. Additionally, a pedigree, genogram, and ecomap were constructed through a semistructured interview. A total of sixty women were included in the study. Most participants considered their perception of cancer risk to be equivalent to that of the general population, even among those with pathogenic variants. An increased perception of breast and ovarian cancer risks was associated with a heightened inclination toward religious engagement as a coping mechanism. Patients carrying variants of uncertain significance expressed greater concerns about developing another cancer compared to those who had BRCA1 and BRCA2 wild type or pathogenic variants. Qualitative analysis of the genograms and ecomaps demonstrated that the CGC/GT processes facilitate communication within families. The genogram analyses revealed the impact of CGC and GT processes on families at risk for hereditary cancer. Changes in some family relationships were observed, and an improvement in communication was noted following the GT process. These findings can assist healthcare professionals considering a personalized approaches in clinical practice.

Experiences of hereditary cancer care among transgender and gender diverse people: "It's gender. It's cancer risk…it's everything".

Transgender and gender diverse (TGD) individuals are a significant yet underrepresented population within genetic counseling research and broader LGBTQI+ health studies. This underrepresentation perpetuates a cycle of exclusion from the production of medical knowledge, impacting the quality and equity of care received by TGD individuals. This issue is particularly poignant in cancer genetic counseling, where TGD individuals with elevated cancer risk receive risk assessment, counseling, and referral to support based on risk figures and standards of care developed for cisgender individuals. The experiences of TGD individuals navigating inherited cancer syndromes remain largely undocumented in medical literature, posing challenges to the provision of inclusive care by genetics providers. To bridge this knowledge gap, we conducted a cross-sectional qualitative study. Nineteen semi-structured interviews were held with gender diverse adults having hereditary cancer syndromes, family histories of such syndromes, or personal histories of chest cancer. Our study employed thematic analysis using combined inductive and deductive methods to illuminate how hereditary cancer care intersects with participants' gender identities, gender expression, and gender-affirming care experiences. Participants reflected on care experiences that felt affirming or triggered gender dysphoria. Participants also discussed the interplay between risk-reducing mastectomy and top surgery, exploring co-emergent dynamics between cancer risk management and gender expression. Significantly, participants identified actionable strategies for healthcare providers to enhance support for gender diverse patients, including the mindful use of gendered language, collaborative decision-making, and conveying allyship. These findings offer valuable insights into tailoring genetic counseling to meet the unique needs of TGD individuals, advancing the path toward inclusive and appropriate care for LGBTQI+ individuals with hereditary cancer syndromes.