Your Family Connects: A Theory-Based Intervention to Encourage Communication about Possible Inherited Cancer Risk among Ovarian Cancer Survivors and Close Relatives.

INTRODUCTION: Encouraging family communication about possible genetic risk has become among the most important avenues for achieving the full potential of genomic discovery for primary and secondary prevention. Yet, effective family-wide risk communication (i.e., conveying genetic risk status and its meaning for other family members) remains a critical gap in the field. We aim to describe the iterative process of developing a scalable population-based communication outreach intervention, Your Family Connects, to reach ovarian cancer survivors and close relatives to communicate the potential for inherited risk and to consider genetic counseling. METHODS: Relational-level theories (e.g., interdependence theory) suggest that interventions to promote family cancer risk communication will be most effective if they consider the qualities of specific relationships and activate motives to preserve the relationship. Informed by these theories, we collaborated with 14 citizen scientists (survivors of ovarian cancer or relatives) and collected 261 surveys and 39 structured interviews over 12 weeks of citizen science activities in 2020. RESULTS: The citizen science findings and consideration of relational-level theories informed the content and implementation of Your Family Connects (www.yourfamilyconnects.org). CS results showed survivors favor personal contact with close relatives, but relatives were open to alternative contact methods, such as through health professionals. Recognizing the need for varied approaches based on relationship dynamics, we implemented a relative contact menu to enable survivors identify at-risk relatives and provide multiple contact options (i.e., survivor contact, health professional contact, and delayed contact). In line with relational autonomy principles, we included pros and cons for each option, assisting survivors in choosing suitable contact methods for each relative. DISCUSSION: Our developed intervention represents a novel application of relational-level theories and partnership with citizen scientists to expand genetic services reach to increase the likelihood for fair distribution of cancer genomic advances. The Your Family Connects intervention as part of a randomized trial in collaboration with the Georgia Cancer Registry compared with standard outreach.

Evaluating Differences in the Disease Experiences of Minority Adults With Cystic Fibrosis.

Extensive research has demonstrated disparities in health outcomes and survival between non-Hispanic Caucasian (NHC) and non-Caucasian or Hispanic (minority) persons with cystic fibrosis (CF) in the United States (US). However, very little research has been done to explore the disease experiences of racial and ethnic minority persons with CF. Adult subjects with CF were approached for study participation and to characterize their experiential disease perceptions. Survey data were analyzed using Chi-Square tests and Mann-Whitney U-test for basic categorical and continuous variables, and Kruskal-Wallis one-way ANOVA using ranks for Likert scales. Minority persons reported significantly lower scores (more negative experience) when comparing themselves to others with CF (15.18 ± 2.89 vs 18.40 ± 3.18, P < .01), particularly in the areas of representation in research, experience, and support. We were able to identify the unique experiences of minority persons with CF, including perceived lower disease understanding and poorer representation compared to most others with CF. Further large studies are needed to develop and assess interventions that may be useful for serving these diverse populations.

Screening for Individuals at Risk for Hereditary Breast and Ovarian Cancer: A Statewide Initiative, Georgia, 2012-2020.

Georgia implemented a statewide family history screening program for hereditary breast and ovarian cancer. From November 2012 through December 2020, 29 090 individuals were screened, 16 679 of whom (57.3%) self-identified as a racial/ethnic minority. Of the 4% (1172/29 090) of individuals who screened as high risk, more than half underwent genetic consultation (793/1172; 67.7%) and testing (416/589; 70.6%). Compared with White women, Black and Hispanic women had higher uptake rates of genetic consultation. Public health settings serving racial minorities are well suited to address disparities in genetic service access. (Am J Public Health. 2022;112(9):1249-1252. https://doi.org/10.2105/AJPH.2022.306932).

Hereditary Breast and Ovarian Cancer: An Updated Primer for OB/GYNs.

This article provides an update on hereditary breast and ovarian cancer syndrome (HBOC) associated with pathogenic variants (PVs) in BRCA1/2. While many new genes have been identified and are included in testing panels, HBOC will serve as the primary example to illustrate the main concepts involved in genetic testing and management for hereditary breast and/or ovarian cancer We provide practical information regarding collecting a family history, cancer risk assessment, genetic testing and result interpretation, BRCA-associated cancer prognosis and treatment, screening recommendations, and prevention strategies. We also introduce implications of more recently identified cancer genes, polygenic risk scores (PRSs), and tumor genomic profiling. Evidence-based management strategies have been shown to reduce cancer incidence and improve survival in HBOC and other high penetrance syndromes. Obstetricians and gynecologists familiar with these concepts can identify and improve the quality of care for women and families impacted by hereditary breast and/or ovarian cancer.

Automated Clinical Practice Guideline Recommendations for Hereditary Cancer Risk Using Chatbots and Ontologies: System Description.

BACKGROUND: Identifying patients at risk of hereditary cancer based on their family health history is a highly nuanced task. Frequently, patients at risk are not referred for genetic counseling as providers lack the time and training to collect and assess their family health history. Consequently, patients at risk do not receive genetic counseling and testing that they need to determine the preventive steps they should take to mitigate their risk. OBJECTIVE: This study aims to automate clinical practice guideline recommendations for hereditary cancer risk based on patient family health history. METHODS: We combined chatbots, web application programming interfaces, clinical practice guidelines, and ontologies into a web service-oriented system that can automate family health history collection and assessment. We used Owlready2 and Protégé to develop a lightweight, patient-centric clinical practice guideline domain ontology using hereditary cancer criteria from the American College of Medical Genetics and Genomics and the National Cancer Comprehensive Network. RESULTS: The domain ontology has 758 classes, 20 object properties, 23 datatype properties, and 42 individuals and encompasses 44 cancers, 144 genes, and 113 clinical practice guideline criteria. So far, it has been used to assess >5000 family health history cases. We created 192 test cases to ensure concordance with clinical practice guidelines. The average test case completes in 4.5 (SD 1.9) seconds, the longest in 19.6 seconds, and the shortest in 2.9 seconds. CONCLUSIONS: Web service-enabled, chatbot-oriented family health history collection and ontology-driven clinical practice guideline criteria risk assessment is a simple and effective method for automating hereditary cancer risk screening.

Comparison of a Cancer Family History Collection and Risk Assessment Tool - ItRunsInMyFamily - with Risk Assessment by Health-Care Professionals.

INTRODUCTION: Primary care providers (PCPs) and oncologists lack time and training to appropriately identify patients at increased risk for hereditary cancer using family health history (FHx) and clinical practice guideline (CPG) criteria. We built a tool, "ItRunsInMyFamily" (ItRuns) that automates FHx collection and risk assessment using CPGs. The purpose of this study was to evaluate ItRuns by measuring the level of concordance in referral patterns for genetic counseling/testing (GC/GT) between the CPGs as applied by the tool and genetic counselors (GCs), in comparison to oncologists and PCPs. The extent to which non-GCs are discordant with CPGs is a gap that health information technology, such as ItRuns, can help close to facilitate the identification of individuals at risk for hereditary cancer. METHODS: We curated 18 FHx cases and surveyed GCs and non-GCs (oncologists and PCPs) to assess concordance with ItRuns CPG criteria for referring patients for GC/GT. Percent agreement was used to describe concordance, and logistic regression to compare providers and the tool's concordance with CPG criteria. RESULTS: GCs had the best overall concordance with the CPGs used in ItRuns at 82.2%, followed by oncologists with 66.0% and PCPs with 60.6%. GCs were significantly more likely to concur with CPGs (OR = 4.04, 95% CI = 3.35-4.89) than non-GCs. All providers had higher concordance with CPGs for FHx cases that met the criteria for genetic counseling/testing than for cases that did not. DISCUSSION/CONCLUSION: The risk assessment provided by ItRuns was highly concordant with that of GC's, particularly for at-risk individuals. The use of such technology-based tools improves efficiency and can lead to greater numbers of at-risk individuals accessing genetic counseling, testing, and mutation-based interventions to improve health.

Evaluation and comparison of hereditary Cancer guidelines in the population.

BACKGROUND: Family health history (FHx) is an effective tool for identifying patients at risk of hereditary cancer. Hereditary cancer clinical practice guidelines (CPG) contain criteria used to evaluate FHx and to make recommendations for genetic consultation. Comparing different CPGs used to evaluate a common set of FHx provides insight into how well the CPGs perform, the extent of agreement across guidelines, and how well they identify patients who should consider a cancer genetic consultation. METHODS: We compare the American College of Medical Genetics and Genomics (ACMG) and the National Comprehensive Cancer Networks (NCCN) (2019) CPG criteria for FHx collected by a chatbot and evaluated by ontologies and web services in a previous study. Collected FHx met criteria from seven groups: Gene Mutation, Breast and Ovarian, Li-Fraumeni syndrome (LFS), Colorectal and Endometrial, Relative Meets Criteria, ACMG Only Criteria, and NCCN Testing. CPG Criteria were coded and matched across 12 ACMG sub-guidelines and 6 NCCN sub-guidelines for comparison purposes. RESULTS: The dataset contains 4915 records, of which 2221 met either ACMG or NCCN criteria and 2694 did not. There was significant overlap-1179 probands met both ACMG and NCCN criteria. The greatest similarities were for Gene Mutation and Breast and Ovarian criteria and the greatest disparity existed among Colorectal and Endometrial criteria. Only 156 positive gene mutations were reported and of the 2694 probands who did not meet criteria, 90.6% of them reported at least one cancer in their personal or family cancer history. CONCLUSION: Hereditary cancer CPGs are useful for identifying patients at risk of developing cancer based on FHx. This comparison shows that with the aid of chatbots, ontologies, and web services, CPGs can be more efficiently applied to identify patients at risk of hereditary cancer. Additionally this comparison examines similarities and differences between ACMG and NCCN and shows the importance of using both guidelines when evaluating hereditary cancer risk.

Cancer genetic counseling for childhood cancer predisposition is associated with improved levels of knowledge and high satisfaction in parents.

Previous surveys of adults with cancer have revealed increased levels of genetic knowledge, varying levels of worry, and high satisfaction with cancer genetic counseling. We sought to determine the impact of cancer genetic counseling on parental levels of genetic knowledge, worry about cancer, and satisfaction in the context of suspected cancer predisposition in a child. We hypothesized that parents would be satisfied with cancer genetic counseling and that cancer genetic counseling would improve baseline parental genetic knowledge and decrease levels of worry. Parents were recruited from a pediatric cancer predisposition clinic in the United States. A survey was administered to two cohorts: One cohort had received cancer genetic counseling in the past and only completed one survey (post-only, n = 26), and another cohort completed the survey before and after cancer genetic counseling (pre/post, n = 23). The survey included questions on demographics, knowledge of genetics, worry levels, and satisfaction with the cancer genetic counseling service. The post-genetic counseling survey also contained a free-text section for parents to indicate what they took away from the sessions. Parental levels of genetics knowledge increased by an average of 1.9 points (p = .01), with 65.2% of parents demonstrating an increase in genetics knowledge score. Average worry levels did not change significantly (p = .37), with 52.2% of parents indicating decreased worry, and 34.8% indicating increased worry. Overall, 91.8% of parents reported high levels of satisfaction. Our results show that cancer genetic counseling in a pediatric cancer predisposition clinic improves parental levels of genetics knowledge. Satisfaction rates suggest that parents find this service beneficial. These results demonstrate the positive impacts of cancer genetic counseling on parents of children in which a hereditary cancer syndrome is known or suspected.

The Impact of Genetic Counseling Educational Tools on Patients' Knowledge of Molecular Testing Terminology.

Molecular testing is increasingly being integrated into cancer management. Despite rapid advancements, little work has been done to explore strategies for communicating with patients undergoing molecular tumor testing. This study evaluated the impact of genetic counseling educational tools on improving patients' understanding of key terms related to molecular testing. A genetic counseling intern designed a picture book to explain six words found in prior research to be difficult to understand (mutation, germline mutation, somatic mutation, biomarker, molecular testing, and targeted therapy). Participants who had previously discussed molecular testing with their oncologist were asked to define the terms. The same participants then received an explanation of each term either from the intern using the picture book in person or from a video presentation of the picture book. They were then asked to redefine each term afterward. The difference between the number of terms defined correctly pre- and post-intervention was compared between presentations. Sixty-three patients with melanoma, colon, lung, or breast cancer were recruited. After both interventions, correct understanding rates improved for all six terms, with significant improvement for germline mutation (p < 0.001), somatic mutation (p < 0.001), biomarker (p < 0.001), and molecular testing (p < 0.001). Understanding of targeted therapy improved significantly (p = 0.011) for the video presentation only. Mean change in knowledge scores did not differ between the two interventions (intern presentation 3.2 vs. video 2.9, p = 0.428). Our data suggest that genetic counseling educational tools can increase patient understanding of terms used to describe molecular testing.

Do Women who Receive a Negative BRCA1/2 Risk Result Understand the Implications for Breast Cancer Risk?

BACKGROUND/AIMS: National guidelines endorse using evidence-based tools to identify those at risk for hereditary breast and ovarian cancer (HBOC). This study aimed to evaluate whether women deemed not to be at increased risk of being a BRCA mutation carrier; the majority of those screened, recall, understand and accept the implications of these results for breast cancer risk. METHODS: We conducted an online survey with women (n = 148) who screened negative on a brief HBOC screener. RESULTS: While women tended to accept HBOC screener as accurate (range 9-45; mean 32, SD 5.0), less than half (43%) accurately recalled their result. Only 52% understood that they were at low risk of carrying a mutation, and just 34% correctly understood their breast cancer risk. African American women were less likely to recall (33 vs. 53% respectively, OR 0.5, p = 0.03), understand (42 vs. 63% respectively, OR 0.4, p = 0.02), and accept (mean 31 vs. 33 respectively, ß -2.1, p = 0.02) the result compared to Whites. CONCLUSIONS: Our findings show that those at low risk of carrying a BRCA1/2 mutation had limited understanding of the distinction between mutation risk and breast cancer risk. Theory-based communication strategies are needed to increase the understanding of the implications of being at low risk for hereditary cancers.

Willingness to decrease mammogram frequency among women at low risk for hereditary breast cancer.

This study aimed to assess women's willingness to alter mammogram frequency based on their low risk for HBOC, and to examine if cognitive and emotional factors are associated with women's inclination to decrease mammogram frequency. We conducted an online survey with women (N = 124) who were unlikely to have a BRCA mutation and at average population risk for breast cancer based on family history. Most women were either white (50%) or African American (38%) and were 50 years or older (74%). One-third of women (32%) were willing to decrease mammogram frequency (as consistent with the USPSTF guideline), 42% reported being unwilling and 26% were unsure. Multivariate logistic regression showed that feeling worried about breast cancer (Adjust OR = 0.33, p = 0.01), greater genetic risk knowledge (Adjust OR = 0.74, p = 0.047), and more frequent past mammogram screening (Adjust OR = 0.13, p = 0.001) were associated with being less willing to decrease screening frequency. Findings suggest that emerging genomics-informed medical guidelines may not be accepted by many patients when the recommendations go against what is considered standard practice. Further study of the interplay between emotion- and cognition-based processing of the HBOC screen result will be important for strategizing communication interventions aimed at realizing the potential of precision public health.

Impact of Implementing B-RSTTM to Screen for Hereditary Breast and Ovarian Cancer on Risk Perception and Genetic Counseling Uptake Among Women in an Academic Safety Net Hospital.

BACKGROUND: Lower socioeconomic status is strongly associated with decreased perception of cancer risk. Fewer low socioeconomic status women than expected currently access cancer genetic services from which they may benefit. PATIENTS AND METHODS: We screened women presenting for a screening mammogram at a safety net academic hospital using the Breast Cancer Genetics Referral Screening Tool Version 3.0 (B-RSTTM), an online tool designed to identify individuals potentially at risk for hereditary breast and ovarian cancer. Participants screening either positive (high risk) or negative (moderate risk) were offered genetic counseling appointments. We used a brief survey to evaluate change in risk perception before and after using B-RSTTM, and after a genetic counseling appointment, if applicable. Barriers to accepting appointments were assessed when participants declined. RESULTS: Of the 126 participants, 91 (72.2%) screened negative-average risk, 13 (10.3%) screened negative-moderate risk, and 22 (17.5%) screened positive. Of those who screened positive or negative-moderate, 24 (68.6%) expressed interested in a genetic counseling appointment, of which 19 (79.2%) scheduled. Four of the 19 scheduled (21.1%) completed the appointment. We found a significant difference in the number who rated their breast cancer risk correctly on the post-test between the groups who self-rated as low, moderate, or high risk. Those who perceived themselves as high risk were the most likely to rate their risk correctly on the post-test (P < .001). CONCLUSION: We showed that using B-RSTTM in a safety net academic hospital was effective at identifying women at increased risk for hereditary breast and ovarian cancer.

Validation of Version 3.0 of the Breast Cancer Genetics Referral Screening Tool (B-RST™).

PURPOSE: Despite increased awareness of hereditary breast and ovarian cancer among clinicians and the public, many BRCA1/2 mutation carriers remain unaware of their risk status. The Breast Cancer Genetics Referral Screening Tool (B-RST™) was created and validated to easily identify individuals at increased risk for hereditary breast and ovarian cancer for referral to cancer genetics services. The purpose of this study was to revise B-RST™ to maximize sensitivity against BRCA1/2 mutation status. METHODS: We analyzed pedigrees of 277 individuals who had undergone BRCA1/2 testing to determine modifications to the B-RST™ 2.0 algorithm that would maximize sensitivity for mutations, while maintaining simplicity. We used McNemar's chi-square test to compare validation measures between the revised version (3.0) and the 2.0 version. RESULTS: Algorithmic changes made to B-RST™ 2.0 increased the sensitivity against BRCA1/2 mutation analysis from 71.1 to 94.0% (P < 0.0001). While specificity decreased, all screen-positive individuals were appropriate for cancer genetics referral, the primary purpose of the tool. CONCLUSION: Despite calls for BRCA1/2 population screening, there remains a critical need to identify those most at risk who should receive cancer genetics services. B-RST™ version 3.0 demonstrates high sensitivity for BRCA1/2 mutations, yet remains a simple and quick screening tool for at-risk individuals.

Georgia Primary Care Providers' Knowledge of Hereditary Breast and Ovarian Cancer Syndrome.

Hereditary breast and ovarian cancer syndrome (HBOC) is an inherited condition associated with mutations in the BRCA1 or BRCA2 (BRCA) genes. Identification of individuals with HBOC requires that primary care providers understand the genetic principles required to appropriately collect family history and refer individuals for genetic evaluation. A survey was developed and administered to primary care providers in Georgia to assess their existing knowledge of HBOC and direct targeted educational efforts.We found that Georgia providers demonstrate some knowledge of basic genetic principles but were unable to consistently identify individuals at risk for HBOC. Knowledge deficits included lack of understanding of inheritance patterns and failure to recognize the significance of ovarian cancer history. Strategies for improving identification of patients with HBOC include increasing provider knowledge and integrating HBOC risk assessment tools into practice. Identification of individuals at risk is the critical first step in the process of reducing incidence of breast and ovarian cancer associated with BRCA mutations.

Creation of a network to promote universal screening for Lynch syndrome: the LynchSyndrome Screening Network.

The Evaluation of Genomic Applications in Practice and Prevention Working Group published an evidence-based recommendation stating that every newly diagnosed colorectal cancer (CRC) should undergo tumor screening for Lynch syndrome (LS). In 2011, leading cancer institutions and public health agencies created the Lynch Syndrome Screening Network (LSSN) in order to promote routine LS screening on all newly diagnosed CRCs and endometrial cancers (EC). The LSSN facilitates implementation of appropriate screening via shared resources, protocols and data through network collaboration. The LSSN website contains resources for institutions interested in initiating screening, including materials for program development, implementation and sustainability. The LSSN listserv gives providers access to experts in LS screening and implementation. The LSSN database will allow exploration of key gaps in implementation as a consortia-wide endeavor. To date, the LSSN's membership includes 85 institutions involved in the care of CRC patients and nine official partners such as national and state public health entities and other non-profit institutions. Nearly 80 % of the LSSN's members have already implemented routine or universal CRC and/or EC screening. LSSN serves to further the population health potential of universal LS screening through collaborative efforts and resources.

Characteristics associated with genetic counseling referral and BRCA1/2 testing among women in a large integrated health system.

BACKGROUND: Evidence shows underutilization of cancer genetics services. To explore the reasons behind this underutilization, this study evaluated characteristics of women who were referred for genetic counseling and/or had undergone BRCA1/2 testing. METHODS: An ovarian cancer risk perception study stratified 16,720 eligible women from the Henry Ford Health System into average-, elevated-, and high-risk groups based on family history. We randomly selected 3,307 subjects and interviewed 2,524 of them (76.3% response rate). RESULTS: Among the average-, elevated-, and high-risk groups, 2.3, 10.1, and 20.2%, respectively, reported genetic counseling referrals, and 0.8, 3.3, and 9.5%, respectively, reported having undergone BRCA testing. Personal breast cancer history, high risk, and perceived ovarian cancer risk were associated with both referral and testing. Discussion of family history with a doctor predicted counseling referral, whereas belief that family history influenced risk was the strongest BRCA testing predictor. Women perceiving their cancer risk as much higher than other women their age were twice as likely (95% confidence interval: 2.0-9.6) to report genetic counseling referral. CONCLUSION: In a health system with ready access to cancer genetic counseling and BRCA testing, women who were at high risk underutilized these services. There were strong associations between perceived ovarian cancer risk and genetic counseling referral, and between a belief that family history influenced risk and BRCA testing.

Implementing a screening tool for identifying patients at risk for hereditary breast and ovarian cancer: a statewide initiative.

BACKGROUND: The Georgia Breast Cancer Genomic Health Consortium is a partnership created with funding from the Centers for Disease Control and Prevention (CDC) to the Georgia Department of Public Health to reduce cancer disparities among high-risk minority women. The project addresses young women at increased risk for hereditary breast and ovarian cancer (HBOC) syndrome through outreach efforts. METHODS: The consortium provides education and collects surveillance data using the breast cancer genetics referral screening tool (B-RST) available at www.BreastCancerGeneScreen.org . The HBOC educational protocol was presented to 73 staff in 6 public health centers. Staff used the tool during the collection of medical history. Further family history assessments and testing for mutations in the BRCA1/2 genes were facilitated if appropriate. RESULTS: Data was collected from November 2012 through December 2013, including 2,159 screened women. The majority of patients identified as black/African American and were 18-49 years old. Also, 6.0 % (n = 130) had positive screens, and 60.9 % (n = 67) of the 110 patients who agreed to be contacted provided a detailed family history. A total of 47 patients (42.7 %) met National Comprehensive Cancer Network guidelines when family history was clarified. Fourteen (12.7 %) underwent genetic testing; 1 patient was positive for a BRCA2 mutation, and 1 patient was found to carry a variant of uncertain significance. CONCLUSIONS: The introduction of genomics practice within public health departments has provided access to comprehensive cancer care for uninsured individuals. The successful implementation of the B-RST into public health centers demonstrates the opportunity for integration of HBOC screening into primary care practices.

Hereditary breast/ovarian cancer syndrome: a primer for obstetricians/gynecologists.

An understanding of the diagnosis and clinical management of hereditary breast and ovarian cancer syndrome (HBOC) is essential for obstetricians/gynecologists. This article provides practical information regarding collecting a family history, cancer risk assessment and genetic testing, BRCA-associated cancer prognosis and treatment, screening recommendations, and prevention strategies. Through appropriate cancer risk assessment, women with BRCA1/2 mutations can be identified, and screening and prevention strategies can be used before a diagnosis of cancer occurs. Women's health providers with a strong working knowledge of HBOC are able to improve the quality of care for women and families impacted by BRCA1/2 mutations.