Genetic Counseling And Testing Research Articles

Abstract A025: Empowering Latinas to obtain genetic services: Comparing precision cancer prevention strategies

Abstract Purpose: Precision cancer prevention strategies are critical for addressing the complex interplay of adverse social determinants of health (SDOH) and elevated biological risks for breast cancer (BC) among Latinas and other marginalized communities. FQHC-community-academic partnerships may have particularly high potential for operationalizing these strategies and reducing population-level disparities through enhancing genetic counseling and testing (GCT) and subsequent cascade testing/personalized care. Objective: To present emerging results from a RCT comparing the effectiveness of two precision cancer prevention strategies on increasing GCT among Latinas and networks with elevated biological and adverse SDOH risks. Methods: Latinas Lideres en Salud (LaLiSa) is an ongoing RCT is situated in a 14-site federally qualified health center (FQHC) in Chicago. This unique FQHC has a comprehensive GCT program, as part of its integration with an academic medical center. Eligibility criteria for patients include: 1) identification as Latina, Hispanic, Chicana, etc.; 2) age of 18+ years old; 3) personal or family history of BC or related cancers (e.g., ovarian); 4) no previous GCT uptake; and, 5) no prior volunteerism. Patients are randomly assigned to participate in one of two 3-week phone-based interventions from a community agency. Both interventions offer personalized BC education, SDOH screening and navigation, and free/low-cost GCT services. “Educate” offers education on risk reduction (diet, exercise). “Empower” offers skills training on sharing precision cancer prevention information with family and other network members, who can also be eligible for SDOH navigation and GCT services. Data collection includes two surveys (baseline, post-intervention) for relevant covariates and use of study/navigation records for GCT uptake. Results: Of 299 patients approached, 89 participants have enrolled in the RCT (42 educate, 45 empower), with 89% retention. Approximately 55% are 50+ years old, 85% prefer Spanish, 65% have less than a high school education, and 64% have Medicaid/Medicare. For BC and SDOH risks, 17% are cancer survivors, 81% have financial stress and 42% have other competing SDOH risks (intimate partner violence, housing instability, transit instability). No significant arm differences exist. About 76% have initiated GCT referrals and 43% of participants have received GCT services, including 70% who have been identified as having elevated hereditary risk. Empower participants have been more likely to obtain GCT services than Educate participants, (51% vs. 33%, aOR = 5.44, 95%CI[1.45, 20.40], p=.01) after adjusting for age and self-reported social desirability. Discussion: Emerging data suggest the feasibility of precision cancer prevention strategies through FQHC-community-academic partnerships. Empower approaches may be more effective for enhancing at-risk Latinas’ GCT uptake than Educate approaches, when combined with SDOH navigation and free/low-cost GCT services. Limitations concern generalizability due a small, non-probability based sample. Citation Format: Paola Torres, Carolina Bujanda, Celeste Charchalac-Zapeta, Juanita Arroyo, Pamela Ganschow, Vivian Pan, Nathan Stackhouse, Sage J. Kim, Araceli Lucio, Yamilé Molina. Empowering Latinas to obtain genetic services: Comparing precision cancer prevention strategies [abstract]. In: Proceedings of the 16th AACR Conference on the Science of Cancer Health Disparities in Racial/Ethnic Minorities and the Medically Underserved; 2023 Sep 29-Oct 2;Orlando, FL. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2023;32(12 Suppl):Abstract nr A025.

Results of a randomized controlled trial of a decision support intervention for disclosing maternal BRCA genetic test results to children and adolescents.

Evaluate the impact of a targeted family communication intervention for mothers undergoing genetic counseling and testing (GCT) for BRCA gene alterations. Following BRCA GCT, mothers (N = 204; M age = 45 y) were randomized to either a control condition (self-help print materials) or intervention (printed decision support guide, based on behavioral decision making theory in health care) for supporting choices about disclosing maternal genetic test results to children and adolescents. Behavioral assessments were administered prior to maternal GCT and after receipt of results: primary outcomes were maternal disclosure to children and parent-child communication quality. Mothers in the intervention were > 2x likely to disclose their BRCA test results to their children compared to those in the control condition (odds ratio [OR] = 2.33, 95% confidence interval [CI] = 1.06, 5.10; p = .04). This effect was moderated by children's ages: mothers of preteens (<13 y) assigned to the intervention were >3x likely to disclose their results (OR = 3.74, 95% CI = 1.49, 9.41; p = .005). In adjusted models, intervention was also associated with favorable changes in the quality of parent-child communication (95% CI = 0.30, 9.00; p < .05). Decision support improves parent-child communication outcomes about GCT for hereditary breast-ovarian cancer. This trial is among the first to empirically evaluate the outcomes of a behavioral intervention to support family communication of maternal BRCA risk information to children.

Advancing health equity: A qualitative study assessing barriers and facilitators of implementing hereditary breast and ovarian cancer risk screening tools in community-based organizations.

Genetic counseling and testing (GCT) inform cancer management for persons at risk for hereditary breast and ovarian cancer (HBOC). Community-based organizations (CBOs) may play a role in identifying at-risk Latinx individuals to connect them to GCT but data are lacking. Two academic centers and their four CBO partners planned to implement a validated questionnaire for HBOC risk screening ("HBOC risk screening tool"). This study aimed to assess CBO's preferences for HBOC risk screening tools, as well as the barriers and facilitators anticipated for future implementation. Pre-implementation focus groups were conducted with CBO's staff. Discussions centered on current practices to identify and refer at-risk patients. During the discussion, staff were asked to select one out of five validated HBOC risk screening tools to implement and to discuss anticipated barriers/facilitators for implementation. The four focus groups were coded and qualitative analyzed following the Consolidated Framework for Implementation Research (CFIR) and Health Equity domains. All CBOs chose the Family History Screen 7 (FHS-7). Participants (N = 35) highlighted how the FHS-7 was easy to adapt to better fit the target population and changing guidelines. They had positive attitudes toward implementing the screening tool, stressed how the culture of the organization positioned them to reach the target population, and noted barriers in different CFIR domains (e.g., low knowledge about HBOC and GCT referrals; scarce available resources). Participants pointed to barriers related to health equity domains including limited access to GCT and follow-up care for uninsured and underinsured populations, challenges obtaining accurate family history, and immigration-related barriers. CBOs highlighted the importance of partnering with other stakeholders to overcome barriers. Findings emphasize the need to develop multi-level implementation strategies to overcome barriers and leverage facilitators. This study can inform the development of implementation toolkits for CBOs to implement HBOC screening tools to advance health equity.

Adapting a Theoretically-Based intervention for underserved clinical populations at increased risk for hereditary Cancer: Lessons learned from the BRCA-Gist experience

BackgroundMinorities at increased risk for Hereditary Breast and Ovarian Cancer (HBOC) frequently have low awareness and use of genetic counseling and testing (GCT). Making sure that evidence-based interventions (EBIs) reach minorities is key to reduce disparities. BRCA-Gist is a theory-informed EBI that has been proven to be efficacious in mostly non-Hispanic White non-clinical populations. We conducted formative work to inform adaptations of BRCA-Gist for use in clinical settings with at-risk diverse women. MethodsGenetic counselors (n = 20) were recruited nationally; at-risk Latinas and Blacks (n = 21) were recruited in Washington DC and Virginia. They completed the BRCA-Gist EBI between April 2018 – September 2019. Participants completed an acceptability scale and an interview to provide suggestions about implementation adaptations. T-tests for independent samples compared acceptability between at-risk women and genetic counselors. The Consensual Qualitative Research Framework was used to code adaptation suggestions. Suggested adaptations were discussed by a multidisciplinary team to integrate fidelity and adaptation considerations. ResultsAt-risk women had a significantly higher acceptability (M = 4.17, SD = 0.47 vs. M = 3.24, SD = 0.64; p = 0.000; scale 1–5) and satisfaction scores (M = 8.3, SD = 1.3 vs. M = 4.2, SD = 2.0; p = 0.000; scale 1–10) than genetic counselors. Genetic counselors and at-risk women suggested contextual (e.g. format) and content (e.g. shortening) adaptations to enhance the fit of BRCA-Gist for diverse clinical populations. ConclusionsFindings illustrate the process of integrating fidelity and adaptation considerations to ensure that EBIs retain their core components while enhancing the fit to minoritized clinical populations. Future studies will test the efficacy of the adapted BRCA-Gist in a Randomized Controlled Trial.

Abstract P2-09-18: Use of navigators to identify breast cancer patients for genetic counseling and testing: A quality improvement project

Abstract The value of genetic counseling and testing to cancer prevention, early detection, and treatment options to ensure optimal outcomes is widely acknowledged by providers, payers and patients. However, many individuals who should receive genetic counseling are never offered this service. All patients with early onset (&amp;lt;=age 45), triple negative (&amp;lt;=60) and metastatic HER2 negative breast cancer should be offered genetic counseling and testing (GC/GT) per National Comprehensive Cancer Network guidelines. A quality improvement project to actively identify and offer genetic counseling to all women with early onset, triple negative and metastatic breast cancer was implemented.Baseline information on the number of early onset (&amp;lt;=45), triple negative and metastatic HER2 negative breast cancers diagnosed January 2018-June 2019 was collected and cross-referenced with the Cancer Genetics Risk Assessment patient database and the electronic health record (EHR) to see how many had GC/GT in our department or the breast surgeons’ office. We developed questions for an electronic screening tool used by the navigation team when meeting with patients for the first time, screening for personal or family history criteria that would flag patients at increased risk for hereditary cancer. If any questions were flagged, the patient was asked by the navigator if they would be interested in a genetic counseling appointment to consider genetic testing. Training was provided to the navigation team so that they could answer basic questions, bi-weekly meetings were set up to discuss patients, and a flier and informational videos were made available to patients who wanted more information about GC/GT. If a patient was agreeable to genetic counseling, an automated email was triggered to the genetics team, who contacted the patient for an appointment. A standing order was obtained from willing breast surgeons and oncologists within our network to streamline the referral process. In the 18-month baseline period, there were 126 patients diagnosed with early onset, 36 with triple negative &amp;lt;=60 and 30 with metastatic HER2 negative breast cancer. Of these, 57.1% of early onset, 66.7% triple negative and 3.3% of those with metastatic breast cancer had documentation of GC/GT. A paper screening tool was implemented in July 2019 with implementation of an electronic version in November 2019. In the 18-month intervention period, there were 100 patients diagnosed with early onset, 39 with triple negative and 22 patients with metastatic breast cancer. Of these, 86% of early onset, 87.2% of triple negative and 31.8% of metastatic breast cancer patients had documented GC/GT.A limitation of this project is that some patients leave the system to be treated elsewhere after diagnosis and some may have been tested in their private practitioner’s office that does not connect with our EHR. Additionally, some may have been offered GC/GT but declined or were unwilling/unable to complete an appointment. Finally, the pandemic likely had an impact on this project, since fewer women were undergoing mammography screening due to COVID-19 restrictions, resulting in fewer diagnoses of breast cancer. By leveraging the navigation team’s interaction with breast cancer patients, we were able to improve identification and referral of more patients with early onset, triple negative &amp;lt;=60 and metastatic HER2 negative breast cancer for GC/GT. One barrier to genetic counseling that has been previously identified is a lack of physician referral. Active engagement with a breast navigator can circumvent this barrier. De-identified aggregate data from this quality improvement project was shared with the Association for Community Cancer Centers as part of a larger project, supported by a grant from Pfizer. Citation Format: Stephanie A. Cohen, Dawn Nixon. Use of navigators to identify breast cancer patients for genetic counseling and testing: A quality improvement project [abstract]. In: Proceedings of the 2021 San Antonio Breast Cancer Symposium; 2021 Dec 7-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2022;82(4 Suppl):Abstract nr P2-09-18.

Hospital-based ovarian cancer patient traceback program results in minimal genetic testing uptake

ObjectiveTo determine the feasibility of hospital-based genetic counseling and testing (GC/T) Traceback for Ovarian Cancer (OC) patients, as proposed by the Division of Cancer Prevention and the Division of Cancer Control and Population Sciences, National Cancer Institute. MethodsLiving patients with OC were sent a letter explaining the availability of guideline-supported GC/T for at least BRCA1/2 and surrogates of deceased patients were called on the telephone. Outcomes of contact attempts were systematically recorded and statistically described. Results598 Traceback-eligible OC patients diagnosed from 2006 to 2016 were identified (163 presumed-living and 435 deceased). Two living patients called our office and scheduled an appointment for GC/T after receiving a letter. For surrogates of prior patients, successful contact occurred in 25% of call attempts. Fourteen individuals (2 living patients and 12 surrogates) underwent genetic counseling. Of those 14, 10 individuals consented to genetic testing and 5 followed through with sample collection. None of these individuals had pathogenic variants (PVs). When surrogate call notes were reviewed, 58% reflected positive responses to contact, however 42% were noted to have negative or indifferent responses, which were most common among spouses. Total time spent for hospital-based Traceback was 109 h. ConclusionsOverall, hospital-based Traceback via letter and telephone contact of surrogates is time-intensive and results in minimal uptake of GC/T. To practically execute this type of outreach program, health systems should consider collection of alternative contact information to allow for electronic communication of patient surrogates. Our study also underscores the importance of timely GC/T while patients are in active cancer care.

Healthcare Predictors of Information Dissemination About Genetic Risks.

ObjectivesDespite the benefits of genetic counseling and testing (GCT), utilization is particularly low among African American (AA) women who exhibit breast cancer features that are common in BRCA-associated cancer. Underutilization is especially problematic for AA women who are more likely to die from breast cancer than women from any other race or ethnicity. Due to medical mistrust, fear, and stigma that can be associated with genetic services among racial/ethnic minorities, reliance on trusted social networks may be an impactful strategy to increase dissemination of knowledge about hereditary cancer risk. Informed by the social cognitive theory, the purpose of this study is to determine: 1) which AA patients diagnosed with breast cancer and with identified hereditary risk are sharing information about hereditary risk with their networks; 2) the nature of the information dissemination; and 3) if personal GCT experiences is associated with dissemination of information about hereditary risk.MethodsAmong consented participants (n = 100) that completed an interview administered using a 202-item questionnaire consisting of open- and closed-ended questions, 62 patients were identified to be at higher risk for breast cancer. Descriptive statistics, bivariable chi-square, Pearson’s exact tests, and regression analyses were conducted to examine differences in characteristics between high-risk participants who disseminated hereditary risk information and participants who did not.ResultsAmong high-risk participants, 25 (40%) indicated they had disseminated information about hereditary risk to at least one member in their family/friend network and 37 (60%) had not. Receipt of both provider recommendations and receipt of GCT services was associated with greater odds of disseminating information about hereditary risk with networks, OR = 4.53, 95%CI [1.33, 15.50], p = .02.ConclusionInterventions that increase self-efficacy gained through additional personalized knowledge and experience gained through provider recommendations and by undergoing GCT may facilitate information dissemination among social/familial networks.

Complexities in Genetic Counseling and Testing of Huntington's Disease: A Perspective from India.

Huntington's Disease (HD) is an autosomal dominant, progressive neuropsychiatric illness caused by CAG repeat expansion. The high penetrance of the mutation and limited treatment options make it challenging for patients and caretakers. Proper counseling enables families to cope better and make informed life choices. To explore some complex issues in genetic counseling and testing (GCAT) in HD. Vignettes of patients who underwent genetic testing along with pre and post-test counseling at our GCAT clinic. Case 1: Diagnosis of juvenile HD meant that the healthy parent was an obligate carrier of the mutation. Case 2: Consanguinity resulted in a dense prevalence of HD and >50% risk for the progeny. Case 3: Predictive testing in youth with healthy parents but affected uncles and aunts revealed a HD expansion. HD can present with complex inheritance patterns and proper counseling is necessary for better outcomes.

Genetic Counseling and Testing in African American Patients With Breast Cancer: A Nationwide Survey of US Breast Oncologists.

To determine if physicians' self-reported knowledge, attitudes, and practices regarding genetic counseling and testing (GCT) vary by patients' race. We conducted a nationwide 49-item survey among breast oncology physicians in the United States. We queried respondents about their own demographics, clinical characteristics, knowledge, attitudes, practices, and perceived barriers in providing GCT to patients with breast cancer. Our survey included responses from 277 physicians (females, 58.8%; medical oncologists, 75.1%; academic physicians, 61.7%; and Whites, 67.1%). Only 1.8% indicated that they were more likely to refer a White patient than refer an African American patient for GCT, and 66.9% believed that African American women with breast cancer have lower rates of GCT than White women. Regarding perceived barriers to GCT, 63.4% of respondents indicated that African American women face more barriers than White women do and 21% felt that African American women require more information and guidance during the GCT decision-making process than White women. Although 32% of respondents indicated that lack of trust was a barrier to GCT in all patients, 58.1% felt that this was a greater barrier for African American women (P < .0001). Only 13.9% believed that noncompliance with GCT is a barrier for all patients, whereas 30.6% believed that African American women are more likely than White women to be noncompliant (P < .0001). We demonstrated that racial differences exist in oncology physicians' perceived barriers to GCT for patients with breast cancer. This nationwide survey will serve as a basis for understanding physicians' determinants of GCT for African American women and highlights the necessity of education and interventions to address bias among physicians. Awareness of such physician biases can enable further work to address inequities, ultimately leading to improved GCT equity for African American women with breast cancer.

A culturally targeted video to promote genetic counseling in a community sample of at-risk USLatina women: The role of the concrete mindset.

Latina women, who are at increased risk of hereditary breast and ovarian cancer (HBOC), have lower use of genetic counseling and testing (GCT) than non-Hispanic White women. In a recent study, culturally targeted video improvedpsychosocial outcomes related to GCT.Additional analyses examine whether the culturally targeted video improved positive reactions in women who focus on difficulties (concrete mindset) versus women who focus on the final goals (abstract mindset).Participants (N = 32) completed surveys before and immediately after watching the video. The surveys measured attitudes, emotions, and women's mindset.Before watching the video, women with a concrete mindset reported more negative attitudes and negative emotions about GCT than women with an abstract mindset. After watching the video, women with a concrete mindset reported negative attitudes and feelings at levels comparable to those of women with an abstract mindset, reflecting a reduction in their negative attitudes and emotions.The sample size limits the power to find statistically significant differences.Results supportthe relevance of considering the audience's mindset in the development and testing of public health messages to promote the use of GCT.

The role of psychosocial factors in Black women's self-efficacy in receiving genetic counseling and testing.

Higher self-efficacy in receiving genetic counseling and testing (GCT) has been associated with greater participation in GCT for women at risk of hereditary breast and ovarian cancer (HBOC), but little is known about correlates of self-efficacy in Black women eligible for GCT. The goal of this secondary analysis was to identify sociodemographic and psychosocial factors regarding GCT. Multivariable regression analysis was conducted to assess the relationship between self-efficacy and correlates of interest. Of the 100 Black women surveyed, most women had a college degree (64%), were employed (84%), and had health insurance (93%). In the multivariable model, greater self-efficacy was associated with more positive attitudes toward GCT (Β=0.126; CI=0.01 to 0.25; p=0.039), greater confidence in the Genetic Information Nondiscrimination Act (GINA) (Β=0.250; CI=0.04 to 0.46; p=0.019), and lower ratings of perceived difficulty obtaining GCT (Β=-0.219; CI=-0.46 to -0.10; p=0.003). Community-level interventions to promote self-efficacy are needed that address perceived barriers to GCT, with the goals of increasing GINA Law awareness in the general public, increasing accessibility to genetic counseling (e.g., telemedicine), and promoting more positive attitudes about GCT.

Increase in Genetic Counseling and Testing Referrals After Breast Cancer Pathway Implementation.

Genetic counseling and testing (GC/T) for breast cancer-associated genetic mutations are important components in the appropriate management of newly diagnosed breast cancer. We initiated pathways to help appropriately select patients who meet criteria for GC/T referral (GC/T-R) across the Sarah Cannon Cancer Institute Network. This study evaluated physician pathway training as a means to improve access to GC/T-R. In this retrospective, observational study, we collected data from 7 regions across 6 states, identifying 3,113 patients eligible for GC/T. Patients were divided into 3 defined cohorts: patients treated before implementation of pathways (n = 988), patients treated by non-pathway physicians after pathways were established (n = 1,094), and patients treated by pathway-trained physicians (n = 1,031). Pathways were established in March 2016. Nurse navigators documented eligible patients who were referred for GC/T within a care coordination software system. Eligible patients were referred for GC/T 71.77% of the time if treated on pathways and only 36.47% of the time if treated off pathways. On-pathway patients eligible for GC/T also received testing referral at a higher rate than pre-pathway patients (21.36%). After implementation of pathways and appropriate training of physicians on those pathways, GC/T-R among appropriate patients significantly improved. Pathway training represents a potential solution to improve GC/T-R among patients with breast cancer.

The impact of tumor NGS testing on hereditary cancer risk assessment and population management in an integrated community health care system.

1517 Background: Next-generation sequencing (NGS) for tumor molecular profiling is used in Oncology to identify ‘actionable alterations’ for clinical trials or on/ off-label therapy. Tumor NGS can also reveal potentially heritable germline mutations. The frequency of such incidental germline mutations has been estimated to be 4-15%. The 2015 ASCO Statement supports communication of medically relevant incidental germline findings from somatic mutation profiling to patients (PTS). The impact of tumor NGS testing on hereditary cancer risk assessment programs in the context of a wider population management strategy is unknown. We sought to evaluate this within our Kaiser Permanente Northern California (KPNC) population with ready access to tumor NGS and an ongoing hereditary cancer risk assessment program. Methods: Kaiser Permanente Northern California (KPNC) is part of a large, integrated health care system. NGS at KPNC is performed in collaboration with STRATA Oncology, a precision oncology partnership. All NGS results are reviewed by a multidisciplinary KPNC Genomic Oncology Committee (GOC)which also includes genetic counselors and pathologists. We examined all NGS reports between November 2017 through December 2019 to determine the types of cancers tested, number with a possible germline mutation and number referred for genetic counseling and testing (GCT). Results: 4,825 PTS with advanced cancer underwent STRATA NGS testing. A total of 207 PTS (4.3%) were identified as potential germline mutation carriers, all 207 were recommended for GCT referral. Of these, 92 (45.0%) separately met 2020 NCCN Criteria for Genetic/Familial High-Risk Assessment (2020NG/FA), prior to tumor NGS; 115 (53.6%) did not and 3 (1.4%) had insufficient information. The cancers most frequently meeting NCCN criteria were pancreatic, breast and colon. Of the 92 PTS who met 2020NG/FA, 60 (65%) underwent GCT and 34 (57%) were confirmed to have a germline mutation. Of the 115 PTS that did not meet 2020NG/FA, 47 (41%) underwent GCT and 19 (40%) were confirmed to have a germline mutation. Overall germline mutations were confirmed in 16.5% of patients who did not meet 2020NG/FA and 37% who did. Conclusions: In our community-based integrated healthcare system, systematic review of next-generation sequencing results by an expert GOC led to more robust identification of germline mutation carriers and navigated them to appropriate GCT. Ongoing work will clarify data on cascade testing. We are currently developing automated workflows for GCT.

Black Women's Confidence in the Genetic Information Nondiscrimination Act.

Black women at-risk for hereditary breast and ovarian cancer (HBOC) continue to underutilize genetic counseling and testing (GCT). One reason for this disparity is a fear of discrimination from insurance companies if identified as high-risk. The Genetic Information Nondiscrimination Act (GINA) was enacted to protect against this type of discrimination; however, Black women’s levels of confidence in this law are unknown. In this descriptive study, we sought to (1) assess Black women’s confidence in the GINA law and (2) identify multilevel factors related to their confidence in GINA. Ninety-four Black women at-risk of HBOC completed surveys that assessed intrapersonal, interpersonal, and structural factors. Multiple regression analysis determined factors associated with confidence in GINA. Most women were ≤50 years of age (66.0%) and about half never had a cancer diagnosis (51.1%). Confidence in GINA was moderate (mean = 10.67; standard deviation = 2.54; range = 5–15). Women who valued GCT reported more confidence in GINA (β = 0.345; CI 0.017 to 0.673; p = 0.040). Lack of confidence in GINA may serve as a barrier to seeking GCT. Efforts to increase the perceived value of GCT among Black women could be benefited by increasing awareness of national efforts towards privacy protections of genetic information.

A randomized controlled intervention to promote readiness to genetic counseling for breast cancer survivors.

Breast cancer (BC) survivors with a genetic mutation are at higher risk for subsequent cancer; knowing genetic risk status could help survivors make decisions about follow-up screening. Uptake of genetic counseling and testing (GC/GT) to determine BRCA status is low among high risk BC survivors. This study assessed feasibility, acceptability, and preliminary efficacy of a newly developed psychoeducational intervention (PEI) for GC/GT. High risk BC survivors (N=119) completed a baseline questionnaire and were randomized to the intervention (PEI video/booklet) or control (factsheet) group. Follow-up questionnaires were completed 2weeks after baseline (T2), and 4months after T2 (T3). We analyzed recruitment, retention (feasibility), whether the participant viewed study materials (acceptability), intent to get GC/GT (efficacy), and psychosocial outcomes (eg, perceived risk, Impact of Events Scale [IES]). t tests or chi-square tests identified differences between intervention groups at baseline. Mixed models examined main effects of group, time, and group-by-time interactions. Groups were similar on demographic characteristics (P≥.05). Of participants who completed the baseline questionnaire, 91% followed through to study completion and 92% viewed study materials. A higher percentage of participants in the intervention group moved toward GC/GT (28% vs 8%; P=.027). Mixed models demonstrated significant group-by-time interactions for perceived risk (P=.029), IES (P=.027), and IES avoidance subscale (P=.012). The PEI was feasible, acceptable, and efficacious. Women in the intervention group reported greater intentions to pursue GC, greater perceived risk, and decreased avoidance. Future studies should seek to first identify system-level barriers and facilitators before aiming to address individual-level barriers.

Rapid genetic counseling and testing in newly diagnosed breast cancer: Patients' and health professionals' attitudes, experiences, and evaluation of effects on treatment decision making.

Rapid genetic counseling and testing (RGCT) in newly diagnosed high-risk breast cancer (BC) patients may influence surgical treatment decisions. To successfully integrate RGCT in practice, knowledge of professionals', and patients' attitudes toward RGCT is essential. Between 2008 and 2010, we performed a randomized clinical trial evaluating the impact of RGCT. Attitudes toward and experience with RGCT were assessed in 265 patients (at diagnosis, 6- and 12-month follow-up) and 29 medical professionals (before and after the recruitment period). At 6-month follow-up, more patients who had been offered RGCT felt they had been actively involved in treatment decision-making than patients who had been offered usual care (67% vs 48%, P = 0.06). Patients who received DNA-test results before primary surgery reported more often that RGCT influenced treatment decisions than those who received results afterwards (P < 0.01). Eighty-seven percent felt that genetic counseling and testing (GCT) should preferably take place between diagnosis and surgery. Most professionals (72%) agreed that RGCT should be routinely offered to eligible patients. Most patients (74%) and professionals (85%) considered surgeons the most appropriate source for referral. RGCT is viewed as helpful for newly diagnosed high-risk BC patients in choosing their primary surgery and should be offered routinely by surgeons.

Effectiveness of tablet family history collection in a multidisciplinary pancreatic tumor clinic in identifying patients with risk factors for hereditary cancer.

e13020 Background: A substantial percentage of patients with pancreatic adenocarcinoma (PDAC) harbor pathogenic germline variants in known cancer risk genes, some with relevance for treatment options. Robust collection of relevant personal and family cancer history risk factors for all patients with PDAC is needed to optimize identification of those who could benefit from genetic counseling and testing (GC/GT). Methods: 464 adult patients (≥18 years of age) presenting to a multi-disciplinary pancreatic tumor clinic were invited to complete a tablet based family cancer history survey prior to their clinic appointments. Standard family history entry into electronic medical record (EMR) was reviewed for comparison. Eight GC/CT referral criteria were developed based on existing guidelines for known syndromes associated with PDAC, reported findings from studies of GC/GT outcomes in patients with PDAC, and expert opinion. Presence of any of the 8 criteria were documented for both tablet and EMR collection methods in the subset of patients with PDAC (n = 230). Results: Completion rate for the tablet survey was high (87%). 78% of users completed the survey in ≤15 minutes (x̄ = 12 minutes). 202 patients with PDAC (88%) completed the tablet survey, and 100 (50%) met ≥1 GC/GT criteria. Most frequent criteria identified were: ≥2 relatives with related cancers (28%); ≥1 relative with PDAC (12.9%); personal history of related cancer (12.9%). Tablet data collection improved identification of relatives with breast cancer ca &lt; age 50 from 1.5% to 5.5% due to missing ages at diagnosis in the EMR. The tablet survey also identified 12 patients with Ashkenazi Jewish (AJ) ancestry (6%), a risk factor not accounted for in EMR. Conclusions: Tablet based family cancer history collection is well accepted by patients and easily integrated into clinic work flow. The tablet survey found GC/GT criteria in 50%, and improved identification of key risk factors for BRCA1/2 mutation (AJ ancestry, relative with breast ca &lt; age 50). Further work should focus on integration of tablet based survey data into EMR, and decision support tools to optimize referral and follow through with genetic services.

Breast cancer genetic counseling among Dutch patients from Turkish and Moroccan descent: participation determinants and perspectives of patients and healthcare professionals

Lower participation rates in cancer genetic counseling are observed among different ethnic minorities. The goal of our study is to gain insight into determinants of Turkish and Moroccan patients’ participation in breast cancer genetic counseling and DNA testing, from the point of view of healthcare professionals and patients. Questionnaire-based telephone interviews about awareness, perceptions, and reasons for (non-) participation in cancer genetic counseling were conducted with 78 Dutch breast cancer patients from Turkish and Moroccan descent. The interviews were held in Arabic, Berber, Turkish, or Dutch by bilingual research assistants. Additionally, 14 breast cancer patients participated in one of two focus group meetings, and two focus groups were held with 11 healthcare professionals. SPSS and QSR Nvivo were used to examine the quantitative and qualitative data, respectively. Half of the total group of patients (N = 78) and 79% of patients eligible for genetic counseling and testing (N = 33) were aware of the possibility of genetic counseling. The most important determinants for nonparticipation in genetic counseling were experienced difficulties in patient-doctor communication, cultural factors (e.g., social norms), limited health literacy, limited knowledge of the family cancer history, and anxiety about cancer. Religious beliefs and knowing personal and family members’ breast cancer risks were motives to obtain genetic counseling. Despite the fact that our study showed that Moroccan and Turkish women reported several personal motives to obtain genetic counseling and testing (GCT), patients and healthcare professionals experience significant language and health literacy difficulties, which make it harder to fully access health care such as genetic counseling and testing.

Genetic counseling and testing for gynecological cancers: Perception of female undergraduates of universities in Ibadan, Nigeria

Introduction: Genetic education and counseling give individuals an opportunity to make informed choices related to risks, benefits, and limitations of genetic testing for social and medical purposes. We aimed to assess the perception of female undergraduates of universities in Ibadan to genetic counseling and testing (GCT) for gynecological cancers and their willingness to participate in the twin procedure. Materials and Methods: This was a cross‑sectional study involving consented female students from the two universities within Ibadan metropolis – University of Ibadan and Lead City University, Ibadan. Using a self‑administered, semi‑structured questionnaire, information on their understanding of GCT, perception of implications, and willingness to participate in the procedure were obtained. Results: There were 943 respondents with mean age of 20.0 ± 3.4 years, 908 (96.3%) had ever heard of cancers, but only 252 (26.7%) provided proper definition. Overall, 484 (51.3%) were aware of GCT although three‑quarters, 712 (75.5%), wished to know their inheritable risk of developing gynecologic cancer. All the respondents were willing to participate in the counseling procedure, but only 815 (86.4%) would be willing to proceed with testing if indicated. Possible surgical intervention reduced willingness to test from 82.3% to 45.7%. Conclusion: The female undergraduates of universities in Ibadan were willing to partake in GCT provided there are no surgical interventions. There is a need for an increased awareness and encouragement of GCT for at‑risk groups and also in the prevention and/or early detection to reduce the burden of familial gynecologic cancers. Keywords: Counseling; genetic; gynecologic cancers; testing; university

Psychosocial outcomes and counselee satisfaction following genetic counseling for hereditary breast and ovarian cancer: A patient-reported outcome study

ObjectiveWe investigated the psychosocial consequences of genetic counseling and testing (GCT) for hereditary breast and ovarian cancer (HBOC) at follow-up in a “real-life” sample of counselees at an Austrian tertiary care center. MethodsThe study cohort included counselees who had undergone genetic counseling for HBOC and completed a follow-up self-report questionnaire battery on psychosocial outcomes (quality of life, psychological distress, satisfaction with counseling and decisions). For comparison of distress, we recruited a reference sample of breast cancer survivors (BCS; n=665) who had not requested GCT in the same setting. ResultsOverall, counselees did not exhibit increased levels of anxiety and depression when compared to BCS. No specific follow-up deleterious psychosocial consequences were detected among the former group. Of the 137 counselees, 22.6% and 9.8% experienced clinically relevant levels of anxiety and depression, respectively, at an average follow-up time of 1.8years. However, both anxiety and depression significantly decreased with time and were alike between counselees with and without cancer diagnosis. Follow-up cancer worry seems to be significantly higher among counselees who had not undergone genetic testing or were undecided about it than among counselees who had been tested. ConclusionOur results strongly support GCT as part of routine care for patients with HBOC. The risk factors of increased distress in specific subgroups of counselees, such as recent cancer diagnosis or uncertainty about testing, warrant further exploration and specific attention in clinical routines. Particularly, the psychological needs of undecided counselees warrant ongoing attention and potential follow-ups.