Genetic counselors' perceptions of student supervision across service delivery models.

Genetic counseling (GC) services are increasingly delivered by phone or video, resulting in more telehealth student rotations. The purpose of this study was to describe genetic counselors' utilization of telehealth for student supervision and to compare how their comfort, preferences, and perception of the difficulty of selected student supervision competencies vary between phone, video, and in-person student supervision. In 2021, patient-facing genetic counselors in North America with ≥1-year GC experience who supervised ≥3 GC students in the last 3 years received an invitation via the American Board of Genetic Counseling or the Association of GC Program Directors listservs to complete a 26-item online questionnaire. There were 132 responses eligible for analysis. Demographics were fairly consistent with the National Society of Genetic Counselors Professional Status Survey. The majority of participants used more than one service delivery model to provide GC services (93%) and supervise students (89%). Six supervisory competencies related to the student-supervisor communication (Eubanks HIggins et al., 2013) were perceived to be most difficult to accomplish by phone and easiest in-person (p < 0.0001). Participants were most comfortable in-person and least comfortable by telephone for both patient care and student supervision (p < 0.001). The majority of participants predicted continued use of telehealth for patient care but preferred in-person service delivery for both patient care (66%) and student supervision (81%). Overall, these findings indicate service delivery model changes in the field have an impact on GC education and suggest that the student-supervisor relationship may be different via telehealth. Furthermore, the stronger preference for in-person patient care and student supervision, despite predicted continued telehealth utilization, points to a need for multifaceted telehealth education initiatives.

The diagnostic experience of women with fragile X-associated primary ovarian insufficiency (FXPOI).

PURPOSE: The fragile X premutation occurs when there are 55-200 CGG repeats in the 5' UTR of the FMR1 gene. An estimated 1 in 148 women carry a premutation, with 20-30% of these individuals at risk for fragile X-associated primary ovarian insufficiency (FXPOI). Diagnostic experiences of FXPOI have not previously been included in the literature, limiting insight on experiences surrounding the diagnosis. This study identifies barriers and facilitators to receiving a FXPOI diagnosis and follow-up care, which can inform care and possibly improve quality of life. METHODS: We conducted qualitative interviews with 24 women with FXPOI exploring how FMR1 screening, physician education, and supportive care impacted their experience. Three subgroups were compared: women diagnosed through family history who have biological children, women diagnosed through family history who do not have biological children, and women diagnosed through symptoms of POI. RESULTS: Themes from interviews included hopes for broader clinician awareness of FXPOI, clear guidelines for clinical treatment, and proper fertility workups to expand reproductive options prior to POI onset. Participants also spoke of difficulty finding centralized sources of care. CONCLUSIONS: Our results indicate a lack of optimal care of women with a premutation particularly with respect to FMR1 screening for molecular diagnosis, short- and long-term centralized treatment, and clinical and emotional support. The creation of a "FXPOI health navigator" could serve as a centralized resource for the premutation patient population, assisting in connection to optimal treatment and appropriate referrals, including genetic counseling, mental health resources, advocacy organizations, and better-informed physicians.

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).

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.

Men with an FMR1 premutation and their health education needs.

Men who carry an FMR1 premutation are at-risk to develop a late-onset neurodegenerative disorder called fragile X-Associated Ataxia/Tremor syndrome (FXTAS). However, little is known about their health informational needs. This qualitative study is the first to describe diagnostic experiences and identify specific health information needs of male premutation carriers. In-depth qualitative interviews were conducted by phone with ten men who carry an FMR1 premutation. Interviews were analyzed using direct content analysis. Saturation was assessed through use of the Comparative Method for Themes Saturation in qualitative interviews (CoMeTS). Five themes were identified: diagnosis experience, sources of health information, desired health information, barriers to obtaining health information, and facilitators to desired health information. Participants desired information about inheritance, symptoms, expectations for disease, and actions available to slow progression. Facilitators to obtaining health information included healthcare provider knowledge, positive experiences with providers, beneficial family dynamics, participating in research, and access to experts. Barriers to obtaining health information included lack of personal knowledge, lack of healthcare provider knowledge, negative experiences with providers, and uncertainty. Addressing the educational needs of men with/at-risk for FXTAS could improve the quality of life of men who carry a fragile X premutation.

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.

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.

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.

Patients' reactions and follow-up testing decisions related to Tay-Sachs (HEXA) variants of uncertain significance results.

JScreen is a national public health initiative based out of Emory University that provides reproductive carrier screening through an online portal and follow-up genetic counseling services. In 2014, JScreen began reporting to patients variants of uncertain significance (VUSs) in the gene that causes Tay-Sachs disease (HEXA). Genetic counseling was provided to discuss the VUS and patients were offered hexosaminidase A (HEXA) blood enzyme testing to assist with VUS reclassification. To identify patient reactions and factors influencing their follow-up testing decisions after receiving these results, we conducted a retrospective quantitative study by administering online surveys to 62 patients with HEXA VUSs. Participants who pursued enzyme testing and those who did not both experienced low levels of distress when receiving the VUS results. Perceptions of HEXA carrier status after genetic counseling, decisional conflict levels, plans to have children in the near future, time available to pursue enzyme testing, and eligibility for research were significant factors influencing decision-making to pursue or not pursue enzyme testing. Genetic counseling played an important role in helping patients understand the VUS and follow-up testing options. When discussing VUSs with patients, it would be beneficial for genetic counselors to focus on the patient's perception of the VUS, anxiety related to the uncertainty of their results, and follow-up options, when available.

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.

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.

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.

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.

Recruiting women for a study on perceived risk of cancer: influence of survey topic salience and early versus late response.

INTRODUCTION: Understanding the characteristics of early and late survey responders has implications for recruitment efforts and for informing potential response bias. The main objective of this analysis was to examine survey responder status (ie, early vs late response) by sociodemographic characteristics and by salience of study variables among respondents. METHODS: We analyzed data from a survey on family cancer history and perceived cancer risk among women at a large managed health-care organization. For baseline and 12-month follow-up surveys, we defined early versus late responder status according to the 95th percentile of the number of days it took to obtain completed interviews. RESULTS: We found no significant associations between responder status and sociodemographic characteristics at baseline or follow-up. At baseline, early responders were significantly more likely than late responders to have a personal history of breast cancer (5.2% vs 3.4%, P = .04) and to have been referred for genetic counseling (4.6% vs 2.0%, P = .004). The association between personal history of breast cancer and responder status persisted at follow-up; only 3.5% of late responders at baseline were also late responders at follow-up. Follow-up survey nonresponse rates did not vary by baseline responder status. CONCLUSION: Survey topic salience is associated with early response and is important for recruitment. However, once recruited, late responders do not remain late responders at follow-up, suggesting that extra efforts made to recruit late responders are worthwhile. Health-related agencies that conduct surveys should consider survey salience in survey administration and recruitment strategies.

Readability, Content, and Accountability Assessment of Online Health Information for Retinitis Pigmentosa & Retinitis Pigmentosa Treatment Options.

PURPOSE: New therapies for retinitis pigmentosa (RP) have led to patients desiring more information about their disease. We assessed the readability, content, and accountability of online health information for RP and its treatments. METHODS: Two internet queries were performed: one pertaining to the condition RP, and another pertaining to treatments of RP. Three analyses were performed on the top search results that met eligibility criteria: (1) A readability analysis produced an average reading level; (2) A content analysis was conducted to score each source on the accuracy, completeness, clarity, and organization of the content; and (3) An accountability analysis was performed to evaluate adherence to accountability benchmarks, including authorship, attribution, disclosure, and currency. RESULTS: The mean reading level was 12.0 (SD = 3.2, 95% CI = 11.0-13.0) for the 8 RP webpages and 12.5 (SD = 3.1, 95% CI = 11.7-13.4) for the 10 RP treatment webpages. The mean content score for RP sites was 21.3 of 32 points (SD = 4.1, 95% CI = 19.5-23.0). The mean content score for RP treatment sites was 5.5 out of 16 points (SD = 3.7, 95% CI = 4.1-6.9). The inter-rater reliability was 0.973 (Cronbach's alpha). For RP sites, the mean accountability score was 2.6 out of 4 points (SD = 0.9, 95% CI = 1.9-3.4). For RP treatment sites, the mean accountability score was 2 out of 4 points (SD = 0.9, 95% CI = 1.4-2.6). CONCLUSION: Our data suggest that the online information available to patients regarding RP and RP treatment options exceeds the AMA-recommended sixth-grade reading level and contains gaps in content relevant to patients.

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.

Healthcare Experiences of African American Women with the Fragile X Premutation.

This study aims to understand the healthcare experiences of African American women with a fragile X premutation (PM). PM carriers are at risk for fragile X-associated conditions, including primary ovarian insufficiency (FXPOI) and neuropsychiatric disorders (FXAND). There is no racial/ethnic association with carrying a PM, but African American women historically experience barriers receiving quality healthcare in the USA. Obstacles to care may increase mental health conditions like anxiety and depression. Eight African American women with a PM were interviewed to explore disparities in receiving healthcare and to learn about psychosocial experiences during and after their diagnoses. Interviews were transcribed verbatim and independently coded by two researchers. A deductive-inductive approach was used, followed by thematic analysis to determine prominent themes. The average participant age was 52.3 ± 8.60 years, with a mean age at premutation diagnosis of 31 ± 5.95 years. Seven participants had children with FXS. Themes from interviews included healthcare experiences, family dynamics, and emotional/mental health after their diagnosis. Participants reported concerns about not being taken seriously by providers and mistrust of the medical institutions. Within families, participants reported denial, insensitivity, and isolation. Participants reported a high incidence of anxiety and depression. Both are symptoms of FXAND and stresses of systemic racism and sexism. The reported family dynamics around the news of a genetic diagnosis stand apart from other racial cohorts in fragile X research: interventions like family counseling sessions and inclusive support opportunities from national organizations could ease the impacts of a PM for African American women.

Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting.

Lynch syndrome is the most common cause of inherited colorectal cancer, accounting for approximately 3% of all colorectal cancer cases in the United States. In 2009, an evidence-based review process conducted by the independent Evaluation of Genomic Applications in Practice and Prevention Working Group resulted in a recommendation to offer genetic testing for Lynch syndrome to all individuals with newly diagnosed colorectal cancer, with the intent of reducing morbidity and mortality in family members. To explore issues surrounding implementation of this recommendation, the Centers for Disease Control and Prevention convened a multidisciplinary working group meeting in September 2010. This article reviews background information regarding screening for Lynch syndrome and summarizes existing clinical paradigms, potential implementation strategies, and conclusions which emerged from the meeting. It was recognized that widespread implementation will present substantial challenges, and additional data from pilot studies will be needed. However, evidence of feasibility and population health benefits and the advantages of considering a public health approach were acknowledged. Lynch syndrome can potentially serve as a model to facilitate the development and implementation of population-level programs for evidence-based genomic medicine applications involving follow-up testing of at-risk relatives. Such endeavors will require multilevel and multidisciplinary approaches building on collaborative public health and clinical partnerships.

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.

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.