Counseling Referrals Research Articles

Impact of best practice advisory on genetic counseling referrals for young endometrial cancer patients

Impact of best practice advisory on genetic counseling referrals for young endometrial cancer patients

Upper tract urothelial carcinoma: epidemiology, presentation, and high-risk endemic populations.

Upper tract urothelial carcinoma (UTUC) only accounts for 5-10% of all urothelial cancers but these patients present with high stage disease and 2 out of 3 patients have evidence of muscle-invasion at time of diagnosis. Furthermore, 10% of UTUC patients have associated Lynch syndrome and therefore diagnosis of UTUC should prompt timely evaluation and familial counseling. The purpose of this review is to outline the current evidence on the epidemiology, presentation, and high-risk endemic populations of UTUC through review of contemporary publications occurring over the preceding 18 months. Both the American Urological Association (AUA) and European Association of Urology (EAU) have published updated guidelines within the last 18 months for the management of UTUC. Of note, the updated guidelines give special consideration to identifying patients with risk factors for Lynch syndrome and recommend universal histologic testing for those with high probability of having Lynch syndrome cancers as well as referral for genetic counseling and germline testing. UTUC is an overall rare malignancy but tends to present with advanced stage and muscle-invasion. A proper understanding of the epidemiology, presentation, and high-risk endemic populations is necessary to develop preventive and interventional strategies.

Synchronous endometrial and minor salivary gland carcinomas – role of molecular diagnostics amid lack of clinical suspicion

Abstract Introduction/Objective Synchronous malignancies account for 3-5% of all tumor diagnoses but can be challenging to detect if one or both tumors are rare histologic subtypes and clinical suspicion is lacking. Molecular diagnostics are critical for accurate diagnosis in these difficult cases to guide appropriate patient care. Methods/Case Report We report the case of a 49-year-old female who was diagnosed with a high-grade, mixed- histology endometrial adenocarcinoma a few years back. She was found to have hilar and mediastinal nodal carcinoma of uncertain differentiation a couple of months after her initial diagnosis, clinically labelled as metastatic endometrial carcinoma. Following neoadjuvant chemotherapy, her hysterectomy showed complete pathologic response, and was found to be POLE ultramutated on NGS. Follow-up PET scan in 2023 showed progression of hilar/endobronchial thickening, as well as interval increase in size of mediastinal nodes, again presumed to be endometrial metastases, despite the POLE mutant status. Repeat sampling was performed from both the sites, along with comprehensive molecular profiling. Cytology from the nodes and surgical pathology from the endobronchial lesion showed similar morphology consisting of hyperchromatic basaloid cells in cribriform arrangement with tubular structures containing myxoid stromal material, negative for PAX-8, ER, p40, and TTF1 immunostains, inconsistent with endometrial metastasis. Molecular studies including FISH and NGS showed MYB1::NFIB fusion characteristic of adenoid cystic carcinoma and absence of POLE mutation, definitively refuting the clinically suspected progression of endometrial metastasis. Molecular testing confirmed that the endobronchial tumor and mediastinal nodal involvement were caused by a second primary, distinct from her POLE-ultramutated endometrial carcinoma which disappeared with chemotherapy. Her extended molecular workup also revealed a pathogenic mutation in BRIP1, suggesting a genetic cancer predisposition syndrome requiring referral for genetic counseling. Results (if a Case Study enter NA) NA Conclusion Molecular pathology is an invaluable tool for unravelling diagnostic complexity. Pathologists must integrate cytomorphology, molecular genetics and knowledge of cancer biology to steer the clinical teams towards the best patient care.

The Fragmentation of Specialty Care. The Role of Referral Location, Type of Referral, and Demographic Factors in Determining Completion Rates for Uninsured Patients in a Student-Run Free Clinic.

Little is known about how location of specialty care affects accessibility for uninsured patients at free clinics. To address this gap, the specialty referral completion rate by location and role of demographic and referral-specific factors were analyzed at an urban-based free clinic. A retrospective review was performed at a single site, student-run free clinic exclusively serving uninsured patients. Referral completion rate and predictors of referral completion were examined including age, race, ethnicity, sex, referral type, and location of referral. Significant predictors (p < 0.05) were included in the adjusted model if the associated odds ratio (OR) was meaningful. A total of 351 referrals met criteria. Completion rate was 53.6%. Co-location of specialty services was associated with a higher completion rate (64.7%, p < 0.001) and counseling referral type had a lower completion rate (11.5%, p < 0.001). Significant predictors of referral completion included sex, ethnicity, location of referral, and referral type (p < 0.001). Hispanic patients had higher rates of completion (68.4%, p < 0.001). On multivariable analysis, non-co-located fee-for-service hospital referrals had lower odds of completion when compared to co-located referrals at the free clinic (OR = 0.25, CI 95% [0.12-0.54], p < 0.001). Also, when compared to other types of referrals, counseling referrals had a 25 times lower odds of referral completion (p < 0.001). There was a higher completion rate of co-located referrals suggesting that multiple locations and health systems may deter patients from seeking necessary care. The lower rate of counseling referral completion indicates that additional efforts are needed to make these services more accessible to uninsured patients.

PDOC-13 ACCESS TO CARE OF CHILD DIAGNOSED WITH PINEOBLASTOMA AND NURSING CHALLENGES TO ADDRESS THE NEEDS ARISE

Abstract Patient Alu (not her real name) was 8 years old girl when diagnosed with Pineoblastoma causing obstructive hydrocephalus. Presented initial at Primary health care with headache,photophobia,lethargic and vomiting for two weeks. CT scan and MRI(Magnetic resonance imaging) were done on arrival to our care and revealed Pineal region tumour. Biopsy were done. Radiotherapy,surgery,chemotherapy including rehabilitation were planned by Multidisciplinary team. This case study focus on the access of care needs of this patient and the family with an emphasis on the Nurses challenges to address those needs. Medical records were retrospectively reviewed for this Patient from June 2021 on the onset of presenting symptoms and initial admission in Redcross War Memorial Children’s Hospital at Cape Town South Africa up to March 2024 last admission in Hospital. Found that were levels of unmet needs some areas of difficulty are not discussed, some areas family feels difficult to explain or mention such as emotional burnout, language, cultural, spritual and schooling etc. In view of all this Nurses may focus on supporting families on discharge and during admission, working better relationship with Primary health care, appropriate referrals for counseling for coping mechanism. Financial constrains is still a major issue throughout.

Longitudinal outcomes after financial toxicity and health-related social risks screening and referral.

17 Background: Financial toxicity (FT) is associated with delayed/omitted care, reduced quality of life, and worse mortality. Routine screening for FT and health-related social risks (HRSR) is recommended during clinical care, but there is limited longitudinal evidence on outcomes after patients screen positive and are referred for assistance. Methods: FT and HRSR screening for patients with breast, gynecologic, gastrointestinal, or thoracic cancers was implemented at an urban comprehensive cancer center. Screening included the Comprehensive Score for Financial Toxicity (COST) tool (0-44, lower scores=worse FT) and a HRSR checklist to identify food, housing, and transportation insecurity. COST score ≤16-20 or reported HRSR was a “positive” screen and counseling referral was offered: patients could accept the referral by identifying their current concerns. Analysis sample was limited to receiving chemotherapy, radiotherapy, or surgery 120 days prior to baseline survey and had a follow-up survey 4-12 months later. Data were collected 10/2022-12/2023. Results: 2196 patients met inclusion criteria, median time between surveys was 5.5 months (IQR 4.4, 6.9). 20% (n=438) screened positive and accepted referral; 11% (n=246) screened positive and declined referral; the remaining 69% (n=1512) screened negative. Sociodemographic factors of age (median 58 vs 62, p&lt;.001), sex (82% vs 74% female, p =.015), and race (31% vs 17% racial/ethnic minority, p&lt;.001) were associated with accepting vs declining referral. Those who accepted referral had lower COST scores (median 10 vs 19) and more HRSR (39% vs 20% housing; 32% vs 18% food; 37% vs 17% transportation) at baseline (all p≤.001). At follow-up, both cohorts had COST decrease, indicating worsened FT [mean difference (95% CI): accepted referral -2.0 (-2.8, -1.2) vs declined referral -2.8 (-4.0, 1.5)]. Across all collected HRSR, those who accepted referral had small benefits in previously reported HRSR, however were more likely to have newly designated HRSR (Table shows changes). Conclusions: Screening for FT and HRSR identified one-third of patients on recent cancer treatment with financial or social needs. Those who accepted financial assistance referral had significantly higher FT and more reported HRSR. Although referral did appear to have some benefit on initial needs, new HRSR were identified at follow-up. Future work will focus on optimizing available assistance to meet ongoing patient needs during and after cancer treatment. Accepted Referraln = 438 (%) Declined Referraln = 246 (%) Housing Resolved need 67 (15) 31 (13) New need 54 (12) 15 (6.1) Stable unmet need 102 (23) 18 (7.3) Stable no need 215 (49) 182 (74) Food Resolved need 64 (15) 31 (13) New need 69 (16) 16 (6.5) Stable unmet need 77 (18) 14 (5.7) Stable no need 228 (52) 185 (75) Transportation Resolved need 73 (17) 34 (14) New need 56 (13) 20 (8.1) Stable unmet need 87 (20) 8 (3.3) Stable no need 222 (51) 184 (75)

Implementing a financial toxicity screening program.

275 Background: Financial toxicity (FT) is a well-documented negative side effect of cancer treatment. Routine screening can mitigate FT by proactively connecting at-risk patients to resources and counseling. Herein, we describe implementation of a FT screening quality improvement (QI) program. Methods: At a comprehensive cancer center, an interdisciplinary team explored options for implementation, with consideration for screening content, mechanism for delivery, and clinical workflow. Through consensus, the team agreed to use the 12-item COmprehensive Score for Financial Toxicity (COST) tool, a health-related social risk checklist, patient-self report of cost-related medication non-adherence, and a visual analog quality of life scale. Surveys were sent via portal every four months to patients on active treatment. The QI project was implemented on the breast, gastrointestinal, gynecologic, and thoracic services. COST scores ≤20 or any endorsed social risk (e.g., food, transportation) yielded a positive screen, and nurses placed a financial counseling referral, with counseling dispositions tracked. In March 2023, due to an influx of “unproductive” counseling dispositions (e.g., patient could not be contacted, patient no longer wanted help), machine learning models suggested reducing the screening threshold to COST scores ≤16 and limiting the social risk checklist to four items (food, transportation, medication, and housing insecurity). Results: From 06/2022-12/2023, 196,675 financial toxicity surveys were assigned to 78,289 unique patients: 38% (n=75,526) were completed by 45,003 patients. Of these, 56% have completed one survey, 26% have completed two surveys, and 18% have completed three or more. Since implementation, 9612 financial counseling referrals have been placed, yielding assistance with insurance selection and applications for assistance with co-payments, non-medical expenses, and out-of-pocket costs. During the QI project, several real-time workflow changes were made. On day 1, 519/1811 patients screened positive, yielding an overflow of counseling referrals: an additional question to allow patients to opt into referral, rather than generating an automatic referral, was then added: the following week, 136 referrals were generated. In September 2022, this opt-in was modified to allow patients to directly identify the areas in which they were seeking assistance (e.g., insurance counseling, out-of-pocket expenses). In 2024, the screening was reduced to two COST questions that had a 0.92 correlation with the full-tool. Conclusions: Routine FT screening is feasible during active treatment, although attention is needed to clinical workflows to ensure patients have access to the screening, nurses and other clinical staff are involved in the implementation, and referrals to resources are available for patients who screen positive. Future work will address cadence of delivery and outcomes of interventions.

Efficacy of a smoking cessation program for patients with lung cancer.

357 Background: Smoking cessation improves overall mortality and cancer-specific mortality in patients with lung cancer. However, cessation is rarely successful without medical assistance, indicating a need for focused intervention in patients with lung cancer. Referrals for formal counseling can facilitate access to smoking cessation resources and serve as an impetus for cessation. In this study, we analyzed the efficacy of the smoking cessation program at our institution’s cancer center and identified opportunities for improvement in patient outreach, education, recruitment, and retention. Methods: A retrospective chart review of patients at our institution's cancer-dedicated smoking cessation center was conducted between January 1, 2022, to August 31, 2023. All referred patients with primary lung cancer or documented lung metastasis were included. Patient demographic and medical information were collected from the electronic medical record. Data was analyzed with descriptive (frequency, mean, median, interquartile ranges (IQR), 95% confidence interval) and inferential (t-test, Chi-Squared/Fisher’s Exact) statistics. P-value &lt;0.05 was deemed significant. Results: 138 patients were referred for smoking cessation counseling, 24 (17.4%) attended counseling, and 14 (58.3%) attended ≥2 visits. Patients had a median time from referral to first session of 14 days (IQR=8.5). All counseled patients were prescribed nicotine replacement therapy (NRT) with 19 receiving multiple modalities. Of the 23 patients actively smoking at first meeting, 19 (82.6%) saw some reduction in packs/day (PPD) compared with 55 (51.9%, n=106) in actively smoking non-counseled patients (p=0.006). Counseled patients saw improvement in packs/day smoking with a mean reduction of 0.66 PPD (p=0.0001, [0.36, 0.95 95% CI]). Patients who attended &gt;2 meetings saw a mean PPD reduction of 1.13 (p=0.004, [0.49, 1.78 95% CI]). In patients who did not attend counseling, 82 (71.9%, n=114) were never successfully contacted. There was no significant difference in age, gender, race, or insurance between patients who attended or did-not-attend counseling. Conclusions: Our smoking cessation program demonstrates effectiveness in facilitating a significant decrease in PPD. However, low utilization presents an opportunity for quality improvement to identify barriers to engagement and improve patient outreach. Proposed interventions include strategies such as patient-portal mediated outreach, provider reminders in the EMR, and utilization of referral and scheduling at initial oncology appointment as quality metrics. Smoking cessation program. Program Efficacy Number of Visits Mean Packs/Day Decrease [95% CI] 1 (n=9) 0.31 [-0.12, 0.73] 2 (n=6)* 0.56 [0.20, 0.91] &gt;2 (n=8)** 1.13 [0.49, 1.78] Total (n=23)*** 0.66 [0.36, 0.95] Attended Counseling n (%) Did Not Attend Counseling n (%) Patients with Any Decrease in Packs/Day* 19 (82.6) 55 (51.9) Patients Attaining Relapse Free Cessation 9 (37.5) 26 (22.8) *p&lt;0.05, **p&lt;0.005, ***p&lt;0.0005.

Germline genetic testing reveals pathogenic variants in uterine serous carcinoma patients

An increase in the risk of developing uterine serous carcinoma (USC) has been observed among BRCA1 and BRCA2 germline pathogenic variant carriers in the published literature. However, routine germline genetic testing is not currently incorporated into USC management guidelines. The primary objective of this study is to define the incidence of germline pathogenic variants identified through genetic counseling referrals for USC patients at our institution. A retrospective cohort study was performed of patients diagnosed with USC at a single institution over a seven-year interval. A total of 91 patients with uterine serous carcinoma were identified. Almost half of the patients were referred to genetic counseling, and just over half of referred patients (24/43, 56%) ultimately underwent germline genetic testing. Pathogenic variants were noted in 12.5% (3/24) of the patients who were tested. Pathogenic mutations were found in BRCA1, BRCA2, and MSH6. Variants of unknown significance (VUS) were seen in 16.6% (4/24) of patients. Based on our findings, we recommend integration of germline testing into the standard management of patients with USC.

Clinical Utility of Molecular Tumor Board Review for Identification of Possible Germline Pathogenic Variants on Tumor Next-Generation Sequencing Reports.

Tumor next-generation sequencing (NGS) testing identifies possible germline pathogenic variants (PGPVs), creating a dilemma for appropriate recognition, triage, and management. The objective of this study was to determine the clinical utility of an institutional molecular tumor board (MTB) in assessing tumor NGS reports for PGPVs. Our institutional MTB reviews all NGS reports to provide treatment and further testing recommendations, including genetic counseling referral and consideration of genetic testing (GC/GT). We studied the patients reviewed by the MTB who were recommended for GC/GT to determine the frequency of referral to a GC, germline test completion, rate of pathogenic germline variants (PGVs), factors related to PGVs, and germline conversion rate (GCR). Of the 2,355 patients reviewed by the MTB during the study period, 609 (25.9%) had a recommendation for GC/GT. Of the 609 with a GC/GT recommendation, only 181 (29.7%) were referred for GC/GT by their treating physicians, and only 107 (17.6%) completed GT. Of the 107 patients completing GT, 29 (26%) had a confirmed PGV. The only factors significantly associated with PGVs were testing due to a PGPV and higher mean variant allele fraction on the tumor NGS. Only 40 patients with a GC/GT recommendation (14.3%) due to a PGPV completed GT; however, the GCR was 42.5% (n = 17/40). The MTB review of PGPV is clinically valuable, identifying PGPV in 12% of patients undergoing tumor NGS and a GCR of 42.5%. Rates of GC/GT completion were relatively low due to under-referral by treating physicians. Given the high GCR, the authors encourage institutional algorithms to help increase GC/GT rates for patients found to have PGPV following tumor NGS testing.

Practice Facilitation to Address Unhealthy Alcohol Use in Primary Care

Unhealthy alcohol use (UAU) is the fourth most preventable cause of death in the US. The US Preventive Services Task Force recommends that primary care clinicians routinely screen all adults 18 years and older for UAU; however, this preventive service is poorly implemented. To determine if practice facilitation improved delivery of the recommended care for UAU compared to usual care. This practice-level cluster randomized clinical trial was conducted across diverse and representative primary care practices throughout Virginia. A total of 76 primary care practices enrolled between October 2019 and January 2023. Practices received immediate (intervention) or 6-month delayed (control) practice facilitation, which included tailored educational sessions, workflow management, and tools for addressing UAU. Outcomes included the increase in recommended screening for UAU, brief interventions, referral for counseling, and medication treatment. Data were collected via medical record review (structured and free text data) and transcripts of practice facilitator sessions and exits interviews. Of the 76 primary care practices enrolled, 32 were randomized to intervention and 35 to control; 11 789 patients (mean [SD] age, 50.1 [16.3] years; 61.1% women) were randomly selected for analysis, with patient demographics similar to Virginia at large. From baseline to 6 months after intervention, screening with a validated instrument increased from 2.1% (95% CI, 0.5%-8.4%) to 35.5% (95% CI, 11.5%-69.9%) in the intervention group compared to 0.4% (95% CI, 0.1%-1.8%) to 1.4% (95% CI, 0.3%-5.8%) in the control group (P < .001). Brief office-based interventions for the intervention group increased from 26.2% (95% CI, 14.2%-45.8%) to 62.6% (95% CI, 43.6%-78.3%) vs 45.5% (95% CI, 28.0%-64.1%) to 55.1% (95% CI, 36.5%-72.3%) in the control group (P = .008). Identification of UAU, referral for counseling, and medication treatment had similar changes for both groups. Qualitative analyses of transcripts revealed that few clinicians understood the preventive service prior to practice facilitation, but at the end most felt much more competent and confident with screening and brief intervention for UAU. This cluster randomized clinical trial demonstrated that practice facilitation can help primary care practices to better implement screening and counseling for UAU into their routine workflow. Effective primary care practice implementation interventions such as this can have a profound effect on the health of communities. Given the number of people that the participating practices care for, this intervention resulted in an additional 114 604 patients being screened annually for UAU who would not have been otherwise. ClinicalTrials.gov Identifier: NCT04248023.

Implementation of an Enhanced Prenatal Checklist to Increase Rates of Counseling of Prenatal Fetal Aneuploidy Testing.

Aim This study aims to assess the effect of implementing an enhanced prenatal genetic checklist to guide the provider's discussion on both screening and diagnostic options for fetal aneuploidy testing at the initial prenatal visit. Methods A retrospective quality improvement (QI) project was performed at a single, large, urban academic medical center. The implementation of this project was prospective; however, data was examined retrospectively after the QI initiative was implemented for three months. Patients were included if they were less than 24 weeks gestational age with a live intrauterine gestation at their initial obstetric (OB) visit. Patients less than 18 years old at the initial OB visit were excluded. The results were analyzed using the statistical software R. Chi-squared tests were used to examine proportional differences between the pre- and post-intervention groups with respect to demographic and clinical characteristics and documented genetic counseling discussions. Results A total of 416 patients were included in the final cohort. As measured by documentation, the rate of discussion of diagnostic prenatal genetic testing increased significantly from the pre-intervention proportion of 54% to the post-intervention proportion of 72% (p < 0.001). In the subgroup analysis of patients with advanced maternal age, the rate of discussion of diagnostic prenatal genetic testing increased significantly from the pre-intervention proportion of 53% to the post-intervention proportion of 83% (p = 0.003), and the rate of genetics counseling referrals made at the initial prenatal visit increased significantly from 4% pre-intervention to 38% post-intervention (p < 0.001). Conclusions The use of an enhanced prenatal genetic checklist led to increased discussion of diagnostic fetal aneuploidy testing and increased rates of referral to genetics counseling.

Implementing financial toxicity and health-related social risks screening and referral.

11006 Background: Financial toxicity (FT), or cancer-related economic hardship, is associated with delayed/skipped care, reduced quality of life, and worse mortality. Screening for FT and health-related social risks (HRSR) as part of assessment for social determinates of health is currently being integrated into clinical care, but there is limited research on outcomes after patients screen positive for FT or HRSR. Methods: We conducted FT and HRSR screening for patients receiving treatment for breast, gynecologic, gastrointestinal, or thoracic cancer at an urban comprehensive cancer center. Screening included the 11-item Comprehensive Score for Financial Toxicity (COST) tool (scored 0-44, lower scores = worse FT) and a HRSR checklist to identify food, housing, medicine, and transportation insecurity. A COST score ≤20 or any endorsed HRSR was considered a positive screen, and financial/assistance counseling referral was offered. Multivariable logistic regression assessed associations of accepting referral, after controlling for demographic and clinical characteristics. Data were collected 09/2022-08/2023. Results: 28,606 patients completed screening, of which 32% (n = 9106) screened positive. Median COST was 16.0. Identified HRSR were: 23% food, 25% housing, 21% medicine, and 24% transportation insecurity. Of positive screens, 51% (n = 4683) requested some form of financial counseling. Associations with accepted referral include: higher FT (β = 1.15, 95% CI: 1.13, 1.16), younger age (β = 1.01, 95% CI: 1.008, 1.02), more essential needs (β = 1.19, 95% CI: 1.13, 1.25), non-White race/ethnicity (β = 1.70, 95% CI: 1.49, 1.93), and stage 3 (β = 1.29, 95% CI: 1.08, 1.53) or stage 4 (β = 1.26, 95% CI: 1.07, 1.49) diagnoses (vs. stage 0/1). Needs of patients who requested counseling included concerns relating to out-of-pocket expenses (68%), non-medical expenses (39%), health insurance coverage (23%), and paying for prescription medication (18%; not mutually exclusive). Of financial counseling sessions with available dispositions (n = 2336/4683, 50%), outcomes (not mutually exclusive) included general counseling (29%), referral to specific assistance programs (e.g., copay assistance, reduced cost care program; 15%), and insurance navigation (15%). One-third of patients requesting counseling did not respond to contact attempts; 21% reported no longer being interested in counseling upon contact. Conclusions: Screening for FT and HRSR was feasible, and one-third of patients were identified as at risk for FT or having an unmet essential need. Patients known to have worse FT outcomes (those with later-stage disease, younger age, higher FT, minoritized groups) were more likely to accept financial counseling; however, only one-half of those at risk accepted help. Future work will focus on improving workflows to ensure assistance meets patient needs, including addressing patient stigma around requesting help.

A registry-based study on universal screening for defective mismatch repair in colorectal cancer in Denmark highlights disparities in screening uptake and counselling referrals

Universal screening for defective mismatch repair (dMMR) in colorectal cancer utilizes immunohistochemical staining for MLH1, MSH2, MSH6 and PSM2. Additionally, BRAF V600E mutations status and MLH1 hypermethylation should be performed to distinguish germline and somatic dMMR alterations. A decade of Danish population-based registries has been analysed regarding screening uptake, detection rate and referral to genetic counselling. MMR testing was performed in 71·8% (N = 34,664) of newly diagnosed colorectal cancers with an increasing trend to 88·8% coverage in the study's final year. The likelihood of undergoing MMR testing was reduced in males with 2% (95% CI 0·4–2·7, p = 0·008), with 4·1% in patients above age 70 years (95% CI 1·5–6·6, p = 0·003) compared in patients below age 51 years, with 16·3% in rectal cancers (95% CI 15·1–17·6, p < 0·001) and 1·4% left-sided colon cancers (95% CI 0·1–1·7, p = 0·03) compared to right-sided colon cancers. Tumour stage II and III increased the likelihood of being tested, with 3·7% for stage II (95% CI 2·2–5·6, p < 0·001) and 3·3% for stage III tumours (95% CI 1·8–4·8, p < 0·001) compared to stage I tumours, whereas the likelihood for stage IV tumours is reduced by 35·7% (95% CI 34·2–37·2, p < 0·001). Test rates significantly differed between the Danish health care regions. dMMR was identified in 15·1% (95% CI 14·8–15·6, p < 0·001) cases with somatic MMR inactivation in 6·7% of the cases. 8·3% tumours showed hereditary dMMR expression patterns, and 20·0% of those were referred to genetic counselling. Despite the high uptake rates, we found disparities between patient groups and missed opportunities for genetic diagnostics.

Incidental Serous Tubal Intraepithelial Carcinoma Finding in a Nepalese Patient Undergoing Opportunistic Salpingectomy and the Discovery of a BRCA1 Pathogenic Variant

BACKGROUND: Serous tubal intraepithelial carcinoma lesions are the precursor to high-grade serous ovarian carcinomas, which have the highest mortality rate among gynecologic malignancies. In women diagnosed with high-grade serous ovarian carcinoma, 20% of the carcinomas are found to be secondary to hereditary causes, with the majority being associated with germline pathogenic variants in BRCA1 and BRCA2 genes. Patients with a pathogenic variant are at high risk for developing high-grade serous ovarian carcinoma, so it is recommended that they undergo risk-reducing salpingo-oophorectomy in their 30s–40s. Opportunistic salpingectomy is the only ovarian cancer prevention method available for patients at average risk. Although serous tubal intraepithelial carcinoma lesions are rare in women at average risk, studies quote incidental serous tubal intraepithelial carcinoma lesion findings in 1–7% of patients undergoing opportunistic salpingectomy. CASE: A 38-year-old woman, gravida 2 para 2, of Nepalese ethnicity had an incidental finding of a serous tubal intraepithelial carcinoma lesion at the time of opportunistic salpingectomy for permanent sterilization at cesarean delivery. The serous tubal intraepithelial carcinoma lesion was found with representative sampling of the fallopian tubes because the patient was considered to be at average risk for ovarian cancer. This method is much less sensitive than the Sectioning and Extensively Examining the Fimbriated End (SEE-FIM) protocol, which is used with women known to be at high risk. This ultimately led to discovery of a BRCA1 mutation in the patient. CONCLUSION: The SEE-FIM protocol is used to identify serous tubal intraepithelial carcinoma lesions, but it is not routinely used on fallopian tubes of patients at average risk. Using the SEE-FIM protocol would lead to fewer missed serous tubal intraepithelial carcinoma lesions, but it is unclear how much extra cost and effort would be required to implement this protocol. There are knowledge gaps when it comes to understudied populations and hereditary breast and ovarian cancer gene prevalence. Studies show that current BRCA prediction models underestimate hereditary breast and ovarian cancer gene prevalence in Asian populations. Diagnosing serous tubal intraepithelial carcinoma lesions in understudied populations could lead to the discovery of a hereditary breast and ovarian cancer pathogenic variant that the patient may not have discovered until after a cancer diagnosis. Identification of a serous tubal intraepithelial carcinoma in a patient at average risk should lead to a referral for genetic counseling and screening.

Improved germline screening for patients with pancreatic cancer through provider driven testing.

e16366 Background: National guidelines recommend germline genetic screening for all pancreatic cancer patients. Results provide meaningful insights into pathogenic variants and impacts both treatment selection and family screening recommendations. We previously reported on current state and the need to improve germline screening rates. Since implementing a provider-driven approach, we have seen a significant increase in testing. Our findings demonstrate the feasibility and ongoing need for novel approaches to germline screening. Methods: This is a retrospective review of 223 patients with pancreatic adenocarcinoma evaluated at the University of Virginia Health System within the calendar year of 2022 compared to the 2021 calendar year. Primary endpoints include the rate of genetic counseling referral placement, the rate of attendance of outpatient genetic counseling, and the rate of individuals who completed germline screening. Our primary data points will be compared with outcomes obtained from a prior study evaluating 210 patients with pancreatic adenocarcinoma in the calendar year of 2021 at the same academic medical center. Results: Of the 223 patients with pancreatic adenocarcinoma, only 30% (69/223) had genetic counseling referrals present in the electronic health record system (EHR). This was an improvement from the 2021 calendar year, where 19% (39/210) had referrals present in the EHR. Of those with referrals present, an improvement in the rate of genetic counseling attendance was found, from 51% (20/39) in 2021 to 58% (40/69) in 2022. There was also an improvement in the rate of germline screening completion rates; 38% (85/223) of patients evaluated in 2022 completed testing, compared to 21% (44/210) in 2021. Six percent (5/85) of tested patients in 2022 had pathogenic findings, consistent with historical incidence rates. The main provider barriers were time and testing logistics. Conclusions: Our data shows an improvement in the rates of genetic counseling referrals, the rates of genetic counseling attendance, and the rates of germline screening completion. This modest improvement is primarily related to increased awareness by our providers. We acknowledge the need for further improvements and are developing a prospective clinical trial to better educate and empower patients to understand the need and results of germline testing.

Pathogenic germline variant discovery in plasma cell disorders: Insights from genetic counseling referrals and testing.

10619 Background: Our research has shown that 10% of multiple myeloma (MM) patients harbor pathogenic or likely-pathogenic germline variants (PGVs) in cancer predisposition genes, with a significant enrichment observed in BRCA1/2 genes. PGVs are notably more common in younger MM patients and those with a personal or familial cancer history. This study presents our experience in referring plasma cell disorder (PCD) patients at increased risk for carrying PGVs, due to either clinical history or suspicious tumor NGS findings, for genetic counseling and subsequent germline testing. Methods: This retrospective study reviewed patient records from our institution's PCD clinic, focusing on those referred for a genetic evaluation between 2020 and 2024 due to suspected cancer predisposition. We compiled demographic and clinical data for these patients, reasons for referral, and cancer history of patients and their families. The uptake of germline testing, identified mutations, and subsequent recommendations for advanced cancer surveillance and prevention, including cascade testing, were also analyzed. Germline testing utilized targeted hereditary cancer panels from five companies and was conducted on DNA samples extracted from peripheral blood, saliva/buccal swabs, or skin biopsies. Results: 52 PCD patients underwent a genetic evaluation and were included in this review, comprising 31 MM, 9 smoldering MM, and 12 MGUS cases. Median age at the time of referral was 63, and 54% of patients were female. Racial composition was 62% White, 15% Black/African-American, 12% Hispanic, 2% Asian, with 10% undisclosed. 8 patients were referred due to suspicious findings in tumor NGS, while the rest were referred due to clinical suspicion. A personal history of cancer was reported by 19 patients (37%), and 49 had a first- or second-degree relative with cancer (94%). 38 patients (73%) underwent germline testing, of which 15 (39%) harbored PGVs (11 had MM, 4 had smoldering MM). 8 PGV carriers had well-established founder variants. The remaining 7 had PGVs in genes including BRCA2 (n=3), PALB2 (n=1), BLM (n=1), SMAD4 (n=1) and NTHL1 (n=1). Of note, all 8 referred for suspicious findings in tumor NGS were confirmed to harbor PGVs. All PGV-positive patients were recommended for cascade testing and enhanced cancer screening. Conclusions: Our findings indicate a 39% PGV detection rate in PCD patients referred for genetic evaluation, underscoring the potential benefit of implementing screening guidelines in this population. PGV detection led to recommendations for intensified surveillance and cascade testing in all cases, impacting both patients and their families. The discovery of BRCA2PGVs in 20% (3/15) of cases reinforces its potential role as a predisposition gene in MM, corroborating our prior findings.

Mental Illness in Refugee and Immigrant Women: A Midwife's Perspective on Culturally Competent Care

The assessment, diagnosis and referral for mental illness management have been recognized as indispensable roles within midwifery practice both in the United States and in Canada. War, civil unrest and natural disasters, have made mental health assessment crucial for refugee and new immigrant women who present as midwifery clients. Since 1991, National Depression Screening Day (NDSD) had been conducted in cities across the United States and Canada using the Harvard Department of Psychiatry National Depression Screening Day Scale (HANDS©). It facilitates the diagnosis of depression based on DSM-IV criteria. The HANDS© tool includes a 10-item interview guide which is a “self-report scale”. HANDS© demonstrated good internal consistency and validity and was 95 percent sensitive.33 Responses could indicate the need for thyroid screening, referral for mental health counselling or psychiatric care. Strategies for transforming midwifery practice are explored: taking a holistic approach, communication strategies, continuing education strategies, documentation and empowerment issues, multidisciplinary team approach, clinic environment issues, resources and referral base. As we develop expertise in the care of torture and trauma survivors, it behooves us to identify the experts amongst our ranks and to refer our clients to these midwives who will best meet their needs. Further research is needed to guide our incorporation of the skills for treating survivors in our educational programs for the midwives of the future.

Investigating changes in student mental health and help-seeking behaviour after the introduction of new well-being support services at a UK university.

Growing numbers of students now seek mental health support from their higher education providers. In response, a number of universities have invested in non-clinical well-being services, but there have been few evaluations of these. This research addresses a critical gap in the existing literature. This study examined the impact of introducing non-clinical well-being advisers on student mental health and help-seeking behaviour at a large UK university. Survey data collected pre-post service introduction in 2018 (n = 5562) and 2019 (n = 2637) measured prevalence of depression (Patient Health Questionnaire-9), anxiety (Generalised Anxiety Disorder-7), and low mental well-being (Warwick-Edinburgh Mental Wellbeing Scale), alongside student support-seeking behaviour. Logistic regression models investigated changes in outcome measures. Administrative data (2014-2020) were used to investigate corresponding trends in antidepressant prescribing at the onsite health service, student counselling referrals and course withdrawal rates. Adjusted models suggested reductions in students' levels of anxiety (odds ratio 0.86, 95% CI 0.77-0.96) and low well-being (odds ratio 0.84, 95% CI 0.75-0.94) in 2019, but not depression symptoms (odds ratio 1.05, 95% CI 0.93-1.17). Statistical evidence showed reduced student counselling referrals, with antidepressant prescribing and course withdrawal rates levelling off. Student perception of the availability and accessibility of university support improved. Our findings suggest a non-clinical well-being service model may improve student perception of support, influence overall levels of anxiety and low well-being, and reduce clinical need. The current study was only able to examine changes over the short term, and a longer follow-up is needed.

Abstract PO1-09-06: Patient Barriers to Genetic Counseling

Abstract Patient Barriers to Genetic Counseling Background: Access to genetic counseling is becoming more important as new targeted drugs are developed and as recommendations for testing for hereditary cancer syndromes expands. Yet, significant barriers hinder patients’ access to these services leading to a certain percentage of patients declining a genetic counseling referral (Ochoa, O’Neill). Among one of the more often cited reasons for declining genetic counseling is the cost of the consultation when it is not covered by insurance or a patient is uninsured. This potentially limits patient treatment options and can result in a missed opportunity to identify at-risk relatives. There is scant data documenting why women do not accept genetic counseling referrals and our study sought to better identify these potential barriers. In doing so we hope to enable healthcare providers and policymakers to develop strategies to ensure equitable access to these crucial services. Methods: Breast cancer patients for whom a genetic counseling referral was placed and who self-declared the inability to pay our Cancer Center’s genetic counseling fee ($126) were approached about filling out an anonymous survey regarding their reasons for declining. The survey queried, in addition to cost, other patient-related barriers to genetic testing. The survey also captured the number of first-degree relatives who might be affected by an actionable pathogenic variant. After patients were consented and completed the survey, genetic testing, paid for by the study, was offered. Results: To date, 13 patients were approached about the study and 10 patients (77%) agreed to participate, were consented and filled out surveys. Women could choose more than one reason for declining a genetic counseling referral but the most prevalent reasons cited were cost (10), worried there is nothing to be done about inherited cancers (3), concern about genetic material being taken and/or results being used against them (2), too many appointments (2). Of these 10, all (100%) elected to proceed with genetic counseling and all 10 (100%) elected to proceed with genetic testing. Two of the 10 patients (20%) tested were found to have actionable pathogenic variants (one in BRCA2 and one in CHEK2) potentially impacting 13 adult first-degree relatives. Conclusion: These preliminary findings underscore the importance of access to genetic counseling in order to facilitate appropriate genetic testing. The identification of actionable genetic mutations allows for early detection, timely interventions, and tailored management plans, ultimately leading to improved patient outcomes. By identifying cost as the most often cited reason for declining genetic counseling, healthcare providers and policymakers can develop strategies such as the implementation of financial assistance programs and universal insurance coverage for genetic counseling services in order to alleviate the financial burden and ensure equitable access to these crucial services.