Journal of Genetic Counseling

Patients' and healthcare professionals' experiences with implementing the Rosa chatbot in mainstream genetic testing for hereditary breast and ovarian cancer

Abstract Mainstream genetic testing (MGT) refers to genetic testing conducted at the time of a cancer diagnosis without undergoing comprehensive genetic counseling. MGT has been the standard of care for patients with breast or ovarian cancer in Norway for several years. The aim of this study is to explore how newly diagnosed patients with breast or ovarian cancer and healthcare professionals' (HCPs), experience the use of the Rosa chatbot in mainstream genetic testing (MGT) and explore potential barriers to the implementation of chatbots in MGT. We conducted a qualitative study using semi‐structured interview guides with selected patients and HCPs. The interviews were done either: in‐person, over the digital platform Teams, or over the telephone, depending on the participants' wishes. We chose the Stepwise‐Deductive Inductive approach for analyzing the transcripts. Both patients and HCPs viewed the Rosa chatbot positively, describing it as user‐friendly, useful, accessible, safe, professional, and trustworthy. They reported that the volume and complexity of information during MGT could be overwhelming and viewed the chatbot as a trustworthy resource for patients to revisit at their own pace, supporting informed decision‐making after a positive genetic test result. However, concerns were raised about potential misunderstandings, the impersonal nature of digital communication, and the risk of reduced patient–provider interaction, which together were perceived as an emotional barrier to integrating chatbots into genetic counseling practice.

Low frequency of structured documentation for cancer genetic testing in a large electronic health record dataset: A brief report using All of Us Research data

AbstractAnnually, over two million individuals in the United States are diagnosed with cancer, with 10–20% attributed to hereditary cancer syndromes. Genetic testing for pathogenic variants is a standard component of cancer care guided by tumor pathology and family history. Despite this, access to and completion of cancer genetic testing remains suboptimal. This study aims to understand the rates and factors associated with genetic testing completion among individuals with cancer. Utilizing data from the All of Us Research Program, which includes over one million Americans, we examined the documentation of genetic testing in electronic health records. Participants diagnosed with breast, ovarian, colon, endometrial, or pancreatic cancer were selected using the All of Us Workbench cohort builder tool. Descriptive and univariate analyses were conducted within the integrated Jupyter Notebook. Out of 60,135 individuals with a diagnostic code for the eligible cancers, over 73% reported a family history of cancer. However, only 281 individuals had a diagnosis or procedural code for a cancer genetic test, with 82% completing the test post‐cancer diagnosis. While the All of Us data is a robust resource for large‐scale research, challenges in data acquisition and interpretation arise due to the reporting structure of genetic findings in most data sources, such as electronic health records. To effectively utilize large‐scale data for addressing issues in cancer genetic testing, shared data elements and standardized documentation are essential.

Genetic education and peer support among Ashkenazi Jewish women in the United States at risk for and surviving with breast cancer

Abstract Ashkenazi Jewish women are at significantly increased risk for hereditary breast and ovarian cancer (HBOC) due to the high prevalence of BRCA founder variants. Community‐based organizations (CBOs) offer culturally tailored support through programs like peer support and genetic education, but limited research has explored how these services are offered and utilized in this population. Therefore, we conducted a secondary analysis of post‐program survey data from N  = 1054 women served by a national cancer support organization. Among high‐risk Ashkenazi Jewish women ( N  = 429), we examined patterns of genetic education and peer support program offering and utilization, patient navigation (PN) quality, care satisfaction, and health‐related quality of life (QoL). Among high‐risk Ashkenazi Jewish women, 78% were offered peer support and 33% utilized it; 59% were offered genetic education and 17% utilized it. Notably, women with poorer QoL were significantly more likely to be offered (χ 2  = 8.06, p  = 0.045) and utilize ( t  = −2.40, p  = 0.009) peer support. Utilization of genetic education was more common among women with higher cancer risk (χ 2  = 5.94, p  = 0.049). Both programs were viewed favorably among those who participated, with users reporting increased support and decision‐making confidence. Women who were offered peer support reported significantly higher PN quality ( t  = 3.7, p  < 0.001) and greater satisfaction with CBO care ( t  = 3.09, p  = 0.001) than those not offered the service. Similarly, women offered genetic education reported significantly higher PN quality ( t  = 3.99, p  < 0.001) and CBO care satisfaction ( t  = 5.38, p  < 0.001) compared to those not offered the service. However, dual utilization of both programs was uncommon: among women offered both ( N  = 217) services, only 27% used both, suggesting potential barriers to concurrent engagement. CBO‐led peer support and genetic education may improve care satisfaction and psychosocial outcomes for Ashkenazi Jewish women navigating HBOC. Future efforts should explore integrated models that reduce barriers to dual participation and enhance continuity of care across services.

Awareness and knowledge of familial breast and ovarian cancer among German general practice patients

AbstractThe aim of this cross‐sectional study was to describe the awareness and knowledge of familial breast and ovarian cancer among German males and females. Participants were patients ≥18 years from six general practices in Mecklenburg‐Western Pomerania. Between April 26 and July 11, 2024, all patients in the waiting room of the practices were systematically approached by a study assistant and invited to an anonymous self‐administered survey on familial cancer prevention and health behaviors. A total of 479 (67.0%) patients participated, and 437 with complete outcome data were analyzed (mean age = 54.0, SD = 16.6; males 34.6%). Chi‐squared and t‐tests were used to examine potential disparities in awareness and knowledge of familial breast and ovarian cancer by gender, age, community size, education level, and cancer history. A large proportion (75.5%) of the participants had heard of hereditary breast or ovarian cancer, and 58.4% had heard of genetic counseling. Awareness of the certified center for familial breast and ovarian cancer in Greifswald (32.5%) and genetic testing for breast and ovarian cancer (39.8%) was lower. On average, 43% of the knowledge questions were correctly answered: largest knowledge gaps concerned the heritability of cancer through fathers and the frequency of gene mutations. Awareness and knowledge levels varied by gender, age, education, and cancer history. Low awareness of genetic counseling and testing may prevent at‐risk families from seeking early interventions. Dissemination of knowledge to the general public should focus particularly on individuals with lower education, as they are currently the least informed.

Implementing mainstream genetic counseling within the area‐wide network of the German Consortium Hereditary Breast and Ovarian Cancer (GC‐HBOC): Satisfaction of primary care providers with the provided state‐of‐the‐art training by the Cologne Center

AbstractThe German Cancer Society (Deutsche Krebsgesellschaft DKG) has published a position paper to address the challenges of cancer patient care in the era of genomic medicine. The German Consortium Hereditary Breast and Ovarian Cancer (GC‐HBOC) has implemented this recommendation in its care concept for families at risk. Core elements are the outcome‐oriented evaluation of structured and standardized clinical measures and reporting recommendations derived therefrom to primary care providers and patients. A cross‐sector network with certified breast cancer and gynecological cancer centers was founded in 2015, starting from the Cologne Center of the GC‐HBOC. To guarantee the knowledge transfer for mainstream genetic counseling, the Cologne center has established an educational program for physicians and specialized nurses in order to pilot trans‐sectoral knowledge transfer on risk assessment and risk‐stratified care. It consists of face‐to‐face lectures with written knowledge test, attending a genetic case conference and genetic counseling sessions with the opportunity to counsel under supervision. The lectures were accompanied by a structured evaluation of the participants' satisfaction and feedback of the needs in mainstream genetic counseling. Thereby, the network ensures that genetic counseling and testing is provided according to state‐of‐the‐art knowledge and allows physicians to participate in knowledge‐generating care outside the university setting and patients to receive care close to home. After multiple feedback cycles to improve the educational program, the GC‐HBOC, in cooperation with the German Cancer Society, has now adopted this concept and developed a common and uniform online curriculum funded by the Federal Ministry of Health. https://www.krebsgesellschaft.de/fortbildung‐familiaerer‐krebs.html.

“Out of the blue”: A qualitative study exploring the experiences of women and next of kin receiving unexpected results from BRA‐STRAP research gene panel testing

AbstractIn the genomic era, the availability of gene panel and whole genome/exome sequencing is rapidly increasing. Opportunities for providing former patients with new genetic information are also increasing over time and recontacting former patients with new information is likely to become more common. Breast cancer Refined Analysis of Sequence Tests—Risk And Penetrance (BRA‐STRAP) is an Australian study of individuals who had previously undertaken BRCA1 and BRCA2 genetic testing, with no pathogenic variants detected. Using a waiver of consent, stored DNA samples were retested using a breast/ovarian cancer gene panel and clinically significant results returned to the patient (or next of kin, if deceased). This qualitative study aimed to explore patient experiences, opinions, and expectations of recontacting in the Australian hereditary cancer setting. Participants were familial cancer clinic patients (or next of kin) who were notified of a new pathogenic variant identified via BRA‐STRAP. In‐depth, semi‐structured interviews were conducted approximately 6 weeks post‐result. Interviews were transcribed verbatim and analyzed using an inductive thematic approach. Thirty participants (all female; average age = 57; range 36–84) were interviewed. Twenty‐five were probands, and five were next of kin. Most women reported initial shock upon being recontacted with unexpected news, after having obtained a sense of closure related to their initial genetic testing experiences and cancer diagnosis. For most, this initial distress was short‐lived, followed by a process of readjustment, meaning‐making and adaptation that was facilitated by perceived clinical and personal utility of the information. Women were overall satisfied with the waiver of consent approach and recontacting process. Results are in line with previous studies suggesting that patients have positive attitudes about recontacting. Women in this study valued new genetic information gained from retesting and were satisfied with the BRA‐STRAP recontact model. Practice implications to facilitate readjustment and promote psychosocial adaptation were identified.

Barriers and facilitators to genetic testing for breast and ovarian cancer amongst Black African women in Luton (UK)

AbstractEvidence suggests that although Black African women have the lowest incidence of breast and ovarian cancer, they have the highest mortality rate and low rates of uptake for cancer screening services for these conditions in the United Kingdom (UK). This study aimed to explore the perceived barriers and facilitators to genetic testing for breast and ovarian cancer amongst Black African women in Luton (UK). We conducted a qualitative study that included one face‐to‐face and five telephone focus group discussions. Consistent with the health belief model, a focus group discussion guide was developed. A total of 24 participants, aged 23–57 who self‐identified as Black African women and who were English speakers residing in Luton, took part in the focus group discussions. Purposive and snowballing sampling were used to recruit the participants for this study. The focus group discussions were recorded, transcribed per verbatim, coded and analyzed using an inductive thematic analysis approach, and the findings were classified. Nine themes emerged from the narratives obtained including six barriers and three facilitators. Barriers to genetic testing included (1) Cost and affordability, (2) Lack of knowledge, awareness, and family health history knowledge, (3) Language barrier, immigration, and distrust in western healthcare services, (4) Fear, (5) Cultural, religious, and intergenerational views and perceptions, and (6) Eligibility for genetic testing for the BRCA1/2 pathogenic variants and a lack of referral to specialist genetic clinics. Facilitators to genetic testing included (7) Availability of tests cost‐free under the National Health Service (NHS) (8) Family members' health and (9) Awareness and education on genetic testing. The barriers and facilitators identified could enable policy makers and healthcare services alike to gain a better understanding of the factors influencing Black African women's decision‐making process toward genetic testing. Ultimately, this work can inform interventions aiming to increase the uptake of genetic testing among this group.

Communication about positive BRCA1 and BRCA2 genetic test results and uptake of testing in relatives in a diverse Asian setting

AbstractThe vast majority of studies assessing communication of BRCA1/2 results with relatives and family uptake of BRCA1/2 testing have been conducted in Western societies, and a dearth of studies have been conducted in Asia among relatives of diverse carriers of pathogenic BRCA1/2 germline variants. This study aimed to present rates of BRCA1/2 result disclosure by probands and probands’ motivators and barriers of family communication and predictive testing uptake among eligible relatives. It also examined patterns of disclosure and testing uptake among different types of relatives. Eighty‐seven carriers with either breast or ovarian cancer, who had previously been found to be carriers of a pathogenic variant in BRCA1/2, were interviewed over the phone using a semi‐structured interview guide. Fifty‐six percent of patients were Chinese, 21% were Indian, and 23% were Malay. It was found that 62.0% of eligible first‐ and second‐degree relatives were informed by the proband about the testing result and that 11.5% of eligible first‐ and second‐degree relatives had genetic testing. First‐degree relatives were more likely to have been informed and tested compared to second‐degree relatives, as were sisters compared to brothers. The low rates of family communication and testing uptake documented in this study suggest that interventions should focus on encouraging probands to inform male and second‐degree relatives and targeting such relatives to increase informed decisions and accessibility to testing. Promotion strategies should be culturally sensitive to optimize outcomes.

Process evaluation of a culturally targeted video for Latinas at risk of hereditary breast and ovarian cancer

AbstractThis paper presents a process evaluation of a culturally targeted narrative video about hereditary breast and ovarian cancer (HBOC) for Latina women at risk for HBOC. Spanish‐speaking Latina women at risk for HBOC participated in a single arm study (n = 40). Participants watched the video developed by the authors and responded to surveys. We used mixed methods to assess theoretical constructs that are hypothesized mediators of narrative interventions (i.e., transportation or engagement, identification with characters, emotions) and implementation outcomes (e.g., acceptability). Descriptive statistics summarized theoretical constructs and implementation outcomes. We conducted Mann–Whitney U tests to assess the differences in theoretical and implementation outcomes between participants who were affected versus. unaffected and participants with different levels of education and health literacy. We used the consensual qualitative research framework to analyze qualitative data. Participants’ mean age was 47.1 years (SD = 9.48). Most participants were high school graduates or less (62.5%). Acceptability of the video was extremely high (Md = 10.0, IQR = 0.2, scale 1–10). Most (82.5%) suggested video dissemination be through social media. Participants were highly engaged (Md = 5.7, IQR = 1.5, scale 1–7), strongly identified with the main character (Md = 8.7, IQR = 2.6, scale 1–10), and reported experiencing mostly positive emotions (Md = 9.5, IQR = 2.8, scale 1–10). Participants with low health literacy and affected participants reported a significantly higher identification with the main character (p<.05). Qualitative data reinforced the quantitative findings. Women reported gaining knowledge, correcting misconceptions, and feeling empowered. Our culturally targeted video is highly acceptable and targets mechanisms of behavior change for narrative interventions. The video is easily disseminable and can be used as an education tool for patients including affected and unaffected women and patients with different education and health literacy levels. Future studies should test the impact of the video in enhancing genetic counseling and testing uptake.

Uptake of genetic counseling and multi‐gene panel testing among women in the Intermountain West with previous negative BRCA1 and BRCA2 results contacted for updated testing

AbstractWomen with a personal history of breast or ovarian cancer who previously had BRCA1/2 testing now have the opportunity for additional genetic risk information through multi‐gene panel testing. However, little is known about women's receptivity to further contact and uptake of genetic counseling and updated genetic testing. Utilizing a clinic database to identify potential participants, we prospectively contacted women in the United States with a personal and/or family history of breast or ovarian cancer who had negative BRCA1/2 testing, which was performed primarily between 2011 and 2018. Eligible and interested participants were scheduled for a genetic counseling appointment to discuss updated genetic testing using a multi‐gene panel. We attempted to contact 455 participants, screened 203 (45%), and 103 (23%) completed a pre‐test genetic counseling visit to discuss updated testing. Of these, 88 participants had updated multi‐gene panel testing. Participants had an average age of 59 years, and most (78%) had breast cancer with an average age of 45 at diagnosis. The majority (97%) of participants were white. Of participants who underwent panel testing, 13% (n = 11) had at least one pathogenic variant identified. Most participants (86%) had an out‐of‐pocket cost of $100 or less for their panel. There is a sizable population of women with a personal and/or family history of breast or ovarian cancer and negative BRCA1/2 test results who would qualify for updated multi‐gene panel testing. In our study, 59% of those reached who were eligible completed a pre‐test genetic counseling visit. Clinics could consider an outreach program to offer genetic counseling and updated genetic testing. Supports for this type of effort may include coordinators and genetic counseling assistants and an available database with patients’ contact information and prior genetic test results. Updated testing allows women more information about their risk and may expand the value of genetic counseling.

Latinas’ knowledge of and experiences with genetic cancer risk assessment: Barriers and facilitators

AbstractDisparities in genetic cancer risk assessment (GCRA) uptake persist between Latinas and Non‐Hispanic Whites. This study utilized a mental model approach to interview 20 Latinas (10 affected, 10 unaffected) at increased risk for hereditary breast and ovarian cancer (HBOC). Participants were asked about their knowledge and perceptions of GCRA, HBOC, risk, benefits, motivators, barriers, challenges, and experiences with GCRA. Using the Consensual Qualitative Analysis Framework, two authors independently coded the interviews and applied the final codes upon consensus. Additionally, interviews were coded to identify whether participants spontaneously brought up certain topics without a prompt. Findings identified multiple barriers and facilitators to GCRA uptake in this population, including patient level psychosocial/cultural factors (e.g., limited knowledge, worry about relatives’ risk) and healthcare system factors (e.g., receiving no referrals). There were notable differences in awareness and knowledge between affected and unaffected women (e.g., genetic testing awareness), as well as knowledge gaps that were evident in both groups (e.g., age of diagnosis as a risk factor). To reduce disparities in GCRA uptake, interventions should address identified facilitators and barriers. Differences in knowledge and awareness between affected and unaffected women support the development of targeted interventions that address specific knowledge gaps. This study was registered in ClinicalTrials.gov (NCT03075540) by Alejandra Hurtado de Mendoza, Ph.D.

Awareness of genetic counseling and genetic testing for hereditary gynecologic cancers among Korean healthcare providers: A survey

AbstractWe conducted a survey to evaluate the awareness of genetic counseling and testing for hereditary gynecologic cancers among Korean healthcare providers. We performed an on‐the‐spot survey using 29 questions on respondents’ basic information, awareness of pre/post‐test genetic counseling, genetic information management, and related social issues. We surveyed healthcare providers who attended the 2019 Hereditary Gynecologic Cancer Symposium organized by the Korean Society of Gynecologic Oncology. Of the 108 attendees, 85 (78.7%) participated in the survey. Among them, 45% (37/83) and 40% (33/83) did not have a separate clinic and had a dedicated team for genetic counseling in their institutions, respectively. Most respondents (60/76, 79%) recommended genetic testing for all women diagnosed with epithelial ovarian cancer. Many respondents simultaneously (20/85, 24%) or sequentially (45/85, 53%) tested for both pathogenic somatic and germline variants, whereas a few respondents (2/85, 2%) checked for only pathogenic somatic variants using tissue samples. Only 20% (17/85) of the respondents recommended genetic testing for all women with endometrial cancer; meanwhile, 68% (58/86) offered the test based on the results of the screening test or family history. Risk‐reducing salpingo‐oophorectomy was recommended to unaffected women with pathogenic BRCA1/2 variants by 69.4% of the respondents (59/85). Most respondents (73/85, 85.9%) needed a manual on bioethics law; a few required a clinical update of hereditary cancer (73/85, 85.9%). The awareness of genetic counseling and testing and the pattern of clinical practice for hereditary gynecologic cancers differ among institutions and regions in Korea. A discussion on these issues and the development of an integrated manual for healthcare providers are required.

Universal access to genetic counseling for women with epithelial ovarian cancer in Nova Scotia: Evaluating a new collaborative care model

AbstractWomen with pathogenic variants in BRCA1/2 have a significantly increased lifetime risk of breast and ovarian cancers. The availability of genetic testing to identify BRCA1/2 carriers is imperative to disease prevention and treatment. We evaluated the effectiveness of a new collaborative care model in Nova Scotia, involving the integration of genetic counselors into tumor board rounds, reduction in time allotted for initial genetic counseling appointments from 60 to 45 min, and a standardized dictation template, to increase referral rate for genetic counseling. We also assessed the study cohorts’ preferences on timing for genetic testing. A retrospective chart review was performed on all women diagnosed with epithelial ovarian cancer (EOC) from 2012 to 2017 (N = 386). Pertinent clinical outcomes were categorized and wait times to different nodes of the clinical pathway assessed. A questionnaire was sent to this same cohort of women to identify preference for the timing of genetic testing (n = 103). The chi‐square and Wilcoxon's rank‐sum tests were used to compare demographic and clinical variables pre‐ and post‐care model implementation. We identified a 48.2% (95% CI: 39.4–56.7, p < .001) increase in referral for genetic counseling following implementation of the new care model. Median time from diagnosis to referral decreased by 74.0 days (p < .001) and median time from referral to first appointment by 54.0 days (p < .001). 56.3% of women desired referral at the time of diagnosis. This care model for women newly diagnosed with EOC in Nova Scotia was successful in increasing referral rates for genetic counseling. Majority of women pursued genetic testing following and favored that referral for genetic counseling be made at the time of diagnosis, highlighting the importance for timely access.

Risk assessment and genetic counseling for hereditary breast and ovarian cancer syndromes—Practice resource of the National Society of Genetic Counselors

AbstractCancer risk assessment and genetic counseling for hereditary breast and ovarian cancer (HBOC) are a communication process to inform and prepare patients for genetic test results and the related medical management. An increasing number of healthcare providers are active in the delivery of cancer risk assessment and testing, which can have enormous benefits for enhanced patient care. However, genetics professionals remain key in the multidisciplinary care of at‐risk patients and their families, given their training in facilitating patients’ understanding of the role of genetics in cancer development, the potential psychological, social, and medical implications associated with cancer risk assessment and genetic testing. A collaborative partnership of non‐genetics and genetics experts is the ideal approach to address the growing number of patients at risk for hereditary breast and ovarian cancer. The goal of this practice resource is to provide allied health professionals an understanding of the key components of risk assessment for HBOC as well as the use of risk models and published guidelines for medical management. We also highlight what patient types are appropriate for genetic testing, what are the most appropriate test(s) to consider, and when to refer individuals to a genetics professional. This practice resource is intended to serve as a resource for allied health professionals in determining their approach to delivering comprehensive care for families and individuals facing HBOC. The cancer risk and prevalence figures in this document are based on cisgender women and men; the risks for transgender or non‐binary individuals have not been studied and therefore remain poorly understood.

Japanese women's reasons for accompaniment status to hereditary breast and ovarian cancer‐focused genetic counseling

AbstractGenetic counselors routinely assess and understand clients’ needs at the beginning of a session. Attending a genetic counseling session with or without companions is an objective sign that genetic counselors can easily notice. This study focused on clients’ reasons for their accompaniment status for genetic counseling, which we categorize into attending with or without a companion(s). A questionnaire survey and interviews were conducted using snowball sampling, starting with the chief executive officer (CEO) of the Japanese hereditary breast and ovarian cancer (HBOC) support group. Of 32 participants, 19 continued with an in‐depth interview after answering the questionnaire. Five themes were identified from the interview: (1) personal confidence, (2) decision‐making style, (3) family members’ habits and time availability, (4) considerations and conflicts with family members, and (5) healthcare provider's suggestion. Our data suggested that the clients expected their companion(s) to play certain roles. This indicates that the reasons of accompaniment status will be helpful for genetic counselors to understand both clients’ and their families’ motivations, personalities, habits, and psychosocial backgrounds. In a high‐context culture such as that of Japan, accompaniment status may be a helpful sign to understand clients’ true worries. In addition, some companions may be future clients in genetic counseling, due to the genetic nature of the disease. In conclusion, our study indicated that it is important for genetic counselors to record accompaniment status before the initial genetic counseling and to pay attention to its reasons at the beginning of the session, which may lead them to understand the client's psychosocial background to facilitate better client‐centered genetic counseling.

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

AbstractHigher 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.

Value of a genetics clinic evaluation in identifying women at risk for hereditary breast‐ovarian cancer syndrome

AbstractOur work evaluates the contributions of a genetics clinic visit in assessing patients’ risk of hereditary cancers and in meeting National Cancer Comprehensive Network (NCCN) criteria for genetic testing. We reviewed the electronic health records (EHR) of 56 women seen for medical care in our healthcare system who were subsequently seen in the Adult Genetics Clinic. We searched for all personal or family cancer history available in either free‐text or structured form within the EHR prior to the genetics visit. For each patient, we then compared the aggregate data with the pedigree information obtained at the Genetics Clinic visit for first‐, second‐, and third‐degree relatives. During the genetics clinic visit, the number of relatives with cancer diagnoses doubled from 121 to 235, and for 17 of 56 (30%) of patients, family histories changed one or more NCCN criteria. For 39/56 (70%) of patients, the family history in the EHR was not changed during the genetics clinic visit. Of 56 women referred to the genetics clinic, 45 (80%) met NCCN guidelines for testing, 40 women underwent genetic testing, and 9 of 40 (23%) tested were positive for a Likely Pathogenic or Pathogenic (LP/P) variant. This study of 56 women quantitatively demonstrates the value of a genetics clinic visit by improved identification of key family history components.

Advocating for equitable management of hereditary cancer syndromes

AbstractThe potential for preventive medicine to lead to more equitable health outcomes exists with the inclusion of genetic testing in medicine. Because of the medical implications of genetic testing for hereditary cancer syndromes and the financial cost attached to recommended management, ensuring equitable access to cancer screening and prevention must be made a priority. For patients with Hereditary Breast and Ovarian Cancer (HBOC) syndrome, the benefits of early detection and prevention are clear, significant, and create the opportunity to provide more equitable, personalized, preventive healthcare. Thus, for genetics providers who offer testing access for their patients, it is important to reflect on the ethical responsibility of advocating for access to appropriate management. Cancer genetic counselors can advocate for health equity by providing thorough pre‐test genetic counseling, collaborating with other disciplines to coordinate care, lobbying state, and national representatives to pass legislation promoting health equity, and developing a management clinic that helps to ensure follow‐up. Equitable access to and benefit from hereditary cancer risk management must be achieved in the pursuit of personalized preventive medicine.

Impact of BRCA1/2 cascade testing on anxiety, depression, and cancer worry levels among unaffected relatives in a multiethnic Asian cohort

AbstractCascade testing for families with BRCA pathogenic variants is important to identify relatives who are carriers. These relatives can benefit from appropriate risk management and preventative strategies arising from an inherited increased risk of breast, ovarian, prostate, melanoma, and pancreatic cancers. Cascade testing has the potential to enable cost‐effective cancer control even in low‐ and middle‐income settings, but few studies have hitherto evaluated the psychosocial impact of cascade testing in an Asian population, where the cultural and religious beliefs around inheritance and destiny have previously been shown to influence perception and attitudes toward screening. In this study, we evaluated the short‐ and long‐term psychosocial impact of genetic testing among unaffected relatives of probands identified through the Malaysian Breast Cancer Genetics Study and the Malaysian Ovarian Cancer Study, using validated questionnaires (Hospital Anxiety and Depression Scale and Cancer Worry Scale) administered at baseline, and 1‐month and 2‐year post‐disclosure of results. Of the 305 unaffected relatives from 98 independent families who were offered cascade testing, 256 (84%) completed predictive testing and family history of cancers was the only factor significantly associated with uptake of predictive testing. We found that the levels of anxiety, depression, and cancer worry among unaffected relatives decreased significantly after result disclosure and remained low 2‐year post‐result disclosure. Younger relatives and relatives of Malay descent had higher cancer worry at both baseline and after result disclosure compared to those of Chinese and Indian descent, whereas relatives of Indian descent and those with family history of cancers had higher anxiety and depression levels post‐result disclosure. Taken together, the results from this Asian cohort highlight the differences in psychosocial needs in different communities and inform the development of culture‐specific genetic counseling strategies.

Prenatal genetic counseling practices regarding recommendations for cancer genetic counseling: A retrospective chart review from two academic institutions

AbstractPrenatal and preconception genetic counselors are trained to take patient pedigrees to evaluate for potential risks for genetic conditions, including hereditary cancer syndromes. However, little research has been published on how often prenatal/preconception genetic counselors provide recommendations for cancer genetic counseling solely based on a family history of cancer. Therefore, this study sought to (a) characterize the types of cancers recognized for a cancer genetic counseling recommendation, (b) analyze appointment indications associated with discussion documentation, and (c) investigate how often National Comprehensive Cancer Center (NCCN) genetic testing criteria for Hereditary Breast and Ovarian Cancer syndrome (HBOC) and Lynch syndrome were met and how often a recommendation for cancer genetic counseling was made. A retrospective chart review and pedigree analysis were performed for prenatal/preconception genetic counseling patients with a family history of cancer seen at two academic institutions between August 10, 2019, and December 1, 2019. In the 170 charts included, a recommendation for cancer genetic counseling was documented in 40% of all genetic counseling summaries and in 59.2% of summaries when NCCN genetic testing criteria for HBOC and/or Lynch syndrome was met. Using chi‐squared and logistic regression analysis, these data support that individuals were significantly more likely to receive a recommendation when NCCN genetic testing criteria were met (OR = 5.01, p < .001) or when the family history contained two or more types of cancer (OR = 2.24, p = .02). Overall, this study identified the NCCN genetic testing criteria for HBOC and Lynch syndrome for which recommendations for cancer genetic counseling were commonly missed. This characterization suggests that continuing education for prenatal and preconception genetic counselors on updated NCCN guidelines may be helpful for improving rates of cancer genetic counseling referrals, uptake of genetic testing, and cancer screening recommendations.

Factors affecting the implementation of cascade testing of patients with BRCA1 or BRCA2 pathogenic germline variants in Japan

AbstractIn clinical management for hereditary cancer patients, risk assessment is needed not only for patients but also for their blood relatives. In people with Hereditary Breast and Ovarian Cancer syndrome (HBOC), benefits are demonstrated by identifying relatives with BRCA1 and BRCA2 pathogenic germline variants (PGV) and implementing clinical surveillance and risk‐reduction surgeries for the at‐risk organs. To date, the uptake of cascade testing has been reported to be insufficient, but only a limited number of studies have analyzed the barriers to cascade testing. The current study aimed to analyze the uptake of cascade testing in the relatives of Japanese HBOC probands and clarify the factors that promote cascade testing uptake. This retrospective study included 125 probands carrying BRCA1 or BRCA2 PGV and 425 of their first‐degree relatives (FDRs). Individual clinicodemographic data were collected from medical records, and comparisons were made between those who did and did not undergo cascade testing. Ninety‐two (21.6%) FDRs of HBOC probands underwent cascade testing. Approximately 70% of the relatives underwent testing within 6 months of the proband's genetic testing. Independent predictors of cascade testing of 425 FDRs were: being present at the proband's genetic counseling session [odds ratio (OR): 8.3, 95% CI 4.2–16.1], cost‐free testing (OR: 2.4, 95% CI 1.4–4.2), being the child of a proband (OR: 1.9, 95% CI 1.1–3.2), and female sex (OR: 1.8, 95% CI 1.0–3.0). The cascade testing uptake rate of FDRs in this study was similar to or lower than other countries. cascade testing uptake can be improved in HBOC families by encouraging relatives (children, siblings, and parents) to attend genetic counseling with the proband. Further prospective studies are needed to pursue the reasons for accepting cascade testing, including an evaluation of intrafamily communication processes.

Understanding facilitators and barriers to genetic testing for black ovarian cancer patients: A qualitative study utilizing interview data with patients and providers

AbstractStudies consistently demonstrate that Black ovarian cancer patients are less likely to receive guideline‐recommended genetic testing. The current study explored barriers to genetic testing among Black women from the perspective of key stakeholders. We conducted semi‐structured interviews with patients (n = 5), advanced practice providers (n = 4), genetic counselors (n = 5), and physicians (n = 6). A framework analysis was used to identify themes. All patients identified as Black and completed genetic testing. Among providers, 13% identified as Black and the majority (66%) focused on gynecologic cancer care. Four themes emerged, and the first was that participants felt all women are too overwhelmed by their cancer diagnosis to prioritize genetic testing. However, Black women experience additional stress from racism that adds an additional barrier to genetic services. Second, Black women are unable to access genetic testing due to socioeconomic disadvantages related to a long history of structural racism. Third, Black women may be unwilling to complete genetic testing due to mistrust of providers and the healthcare system. Finally, Black women are less likely to receive genetic services prior to their cancer diagnosis due to cultural barriers and provider misconceptions about Black women's hereditary risk. Our findings highlight barriers to genetic counseling and testing among Black women, which may include individual and structural racism as well as bias. To increase uptake of genetic testing, it is critical for providers to prioritize communication and patient education that is culturally responsive to the needs of Black women and offer social supports to help Black women navigate their cancer care.

Perceived cancer risk and genetic counseling: A biopsychological perspective

AbstractIn Italy, genetic testing is becoming a regular part of clinical practice in public healthcare. The clinical implications are that probands' educational level and relatives' ages for cascade genetic screening should be considered during counseling. The study aimed to investigate the role of cancer worry in the psychological dimensions of patients undergoing genetic testing and to analyze its moderating effect thereon. We conducted an observational study based on a sample of 55 patients aged between 19 years and 73 years. The sample was classified into two groups based on genetic‐testing indications: oncological diagnosis eligible for hereditary breast and ovarian cancer (HBOC) genetic testing and patients eligible for family cascade testing by known genetic mutation in HBOC. A psychological battery was applied after the first scheduled genetic counseling. Our findings highlighted the relevance of cancer worry in the management of genetic counseling. The influence of cancer worry on dysphoria traits is that patients/relatives undergoing genetic testing feel vulnerable. Genomic medicine oriented to the biopsychosocial (BPS) approach in the counseling process could be the driving force for efficient and integrated genomic‐risk assessment.

The effect of knowledge and person‐related factors on breast cancer susceptibility genes (BRCA1/2) testing perception in Turkish women

AbstractGenetic testing for breast cancer susceptibility genes (BRCA1/2) plays a pivotal role in risk assessment and preventive interventions. However, individuals' awareness, knowledge, and attitudes toward genetic testing can vary across different societies. This study focuses on understanding Turkish women's knowledge, perceptions, and attitudes toward BRCA1/2 testing, considering demographic factors and awareness. In this cross‐sectional study, 301 Turkish participants, including breast/ovarian cancer patients and their first‐degree relatives, were surveyed. Information on sociodemographics, cancer history, awareness, knowledge, and perceptions was collected. The study aimed to assess knowledge levels about breast cancer inheritance and BRCA1/2 testing, describe perspectives about testing in women with a family history of breast or ovarian cancer, and determine associations between knowledge, personal factors, anxiety, and genetic testing perspectives. Results showed a wide range in correct responses (31.6%–96.7%) for knowledge items. No significant relationship between knowledge levels and positive perception was observed. However, participants answering a specific question incorrectly showed higher negative perceptions. While most participants recognized the benefits of genetic testing, concerns centered around passing the genes to future generations. Participants who were younger, more educated, had higher income, were employed, at an earlier disease stage, and were social media users demonstrated more positive attitudes. Negative perceptions were higher among younger patients, physicians, and healthcare professionals. Interestingly, anxiety in cancer patients did not correlate with either positive or negative perceptions. In conclusion, this study identifies participant‐related factors influencing perceptions of hereditary genetic tests. Understanding these factors and addressing associated issues can enhance the utilization of genetic testing and promote preventive oncology applications.

Psychological distress following multi‐gene panel testing for hereditary breast and ovarian cancer risk

AbstractAdvances in our understanding of the genetic landscape of hereditary breast and ovarian cancer (HBOC) have led to the clinical adoption of multi‐gene panel testing. Panel testing introduces new sources of genetic uncertainty secondary to the inclusion of moderate‐ and low‐penetrance genes, as well as the increased likelihood of identifying a variant of uncertain significance (VUS). This cross‐sectional study explored the post‐test psychological functioning of women who underwent multi‐gene panel testing for HBOC susceptibility genes. Two hundred and ninety‐five women who underwent panel testing within the previous 2 years completed a study questionnaire to measure levels of cancer‐related and genetic testing‐related distress using the Impact of Events Scale (IES) and the Multidimensional Impact of Cancer Risk Assessment (MICRA), respectively. Multiple regression analyses were conducted to evaluate the relationship between genetic test results and levels of psychological distress captured by the IES and MICRA. In this cohort, a pathogenic variant (PV) was identified in 41 (14%) of participants, and 77 (26%) participants were found to have a VUS. In the multi‐variate model, higher mean levels of genetic testing‐related distress were observed in individuals with a PV (p < 0.001) or a VUS (p = 0.007) compared to those with a negative result. Furthermore, participants with a PV in a moderate‐penetrance gene were found to have higher levels of genetic testing‐related distress compared to those with a PV in a high‐risk gene (p = 0.03). Overall, participants were highly satisfied with their genetic testing experience, with 92% of individuals reporting they would recommend testing to others. Our findings highlight differences in psychological outcomes based on both variant pathogenicity and gene penetrance, which contribute to our understanding of the impact of panel testing and sources of both cancer‐related and genetic testing‐related distress secondary to testing.

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

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

Examining the communication work of women who have tested BRCA‐positive: “I feel this responsibility to let people know”

AbstractInheriting a pathogenic variant in the BRCA1 or BRCA2 gene considerably increases a woman's risk levels for developing breast and ovarian cancer. In addition to serious physical health implications, women with a BRCA pathogenic variant may face psychosocial challenges, including those related to navigating the often demanding process of communicating about topics regarding BRCA with family and other social network members. Based on in‐depth interviews with 24 women who tested BRCA‐positive, we found that—consistent with the conceptualization of communication work articulated by Donovan‐Kicken et al. (2012) as an extension of the theory of illness trajectories (Corbin & Strauss, 1988)—the labor of communicating about BRCA genetic risk entails (a) duties, (b) challenges, (c) strategies, and (d) shared work. Within each category, our results illuminate particular characteristics of communication work for women who have tested BRCA‐positive, which are commonly tied to the profound health consequences that a pathogenic variant may have for them and, potentially, for their genetic relatives. Our findings offer useful theoretical implications regarding communication work in this context. Furthermore, our results yield valuable practical insight for genetic counselors and other health care professionals regarding the struggles that can accompany communication work for women who have tested BRCA‐positive as well as the strategies that participants reported using to manage or avoid these challenges.

An analysis of the impact of annual cancer genetic testing guideline updates on a past patient population

AbstractGermline genetic testing for cancer predisposition genes has become an essential component of cancer treatment and risk reduction. The National Comprehensive Cancer Network (NCCN) releases annual genetic testing guidelines that identify characteristics of patients that could be affected by a hereditary cancer syndrome. These guidelines have broadened over time and the implications for past patients of cancer genetics clinics are not well understood. This study is a retrospective chart review aimed at determining the percentage and characteristics of past patients that meet updated NCCN guidelines (Breast, Ovarian, and Pancreas [BOP] v1.2022 and Colorectal [CRC] v1.2021), patients that attended a follow‐up appointment, and patients who went on to receive genetic testing. Clinical data and characteristics were compared between the study population as a whole and the cohort of patients that met updated NCCN guidelines BOP v1.2022 and CRC v1.2021. The study population consisted of 280 patients with 76 (27.1%) patients meeting updated NCCN guidelines BOP v1.2022 and CRC v1.2021. The year of initial cancer genetic counseling appointment was statistically significant (p = 0.023) with patients more likely to meet NCCN guidelines BOP v1.2022 and CRC v1.2021 with earlier initial cancer genetic counseling appointments. In the cohort that met updated NCCN guidelines BOP v1.2022 and CRC v1.2021, the most common reason was a change in the NCCN guidelines (BOP or CRC) (54/76, 71.1%) with triple‐negative breast cancer diagnosed at any age being the most impactful guideline change (19/54, 35.2%). Twenty‐one patients attended a follow‐up appointment (7.5%) and of those that received genetic testing (17/21, 81%) most received negative results (13/17, 61.9%), with one pathogenic, low penetrance result (1/17, 5.9%, CHEK2 p.I157T). Provider‐initiated follow‐up was attributed to most follow‐up appointments (16/21, 76.2%) implying patients do not tend to follow‐up on their own. Education to non‐genetics providers as well as targeted implementation of follow‐up protocols possibly managed by genetic counseling assistants and utilizing electronic medical record (EMR) patient messaging could lead to improved patient follow‐up.

Interventions to support decision making in people considering germline genetic testing for BRCA 1/2 pathogenic and likely pathogenic variants: A scoping review

AbstractPathogenic and likely pathogenic variants in BRCA1 and BRCA2 (BRCA1/2) are medically actionable and may inform hereditary breast and ovarian cancer (HBOC) treatment and prevention. However, rates of germline genetic testing (GT) in people with and without cancer are suboptimal. Individuals' knowledge, attitudes, and beliefs may influence GT decisions. While genetic counseling (GC) provides decision support, the supply of genetic counselors is insufficient to meet demand. Accordingly, there is a need to explore the evidence on interventions that aim to support BRCA1/2 testing decisions. We conducted a scoping review of PubMed, CINAHL, Web of Science, and PsycINFO using search terms related to HBOC, GT, and decision making. First, we screened records to identify peer‐reviewed reports that described interventions to support BRCA1/2 testing decisions. Next, we reviewed full‐text reports and excluded studies that lacked statistical comparisons or enrolled previously tested individuals. Finally, we extracted study characteristics and findings into a table. All records and reports were reviewed independently by two authors; decisions were tracked in Rayyan, and discrepancies were resolved through discussion. Of 2116 unique citations, 25 met the eligibility criteria. Articles were published between 1997 and 2021 and described randomized trials and nonrandomized, quasi‐experimental studies. Most studies tested technology‐based (12/25, 48%) or written (9/25, 36%) interventions. Nearly half (12/25, 48%) of interventions were designed to complement traditional GC. Of the interventions compared to GC, 75% (6/8) increased or had a noninferior effect on knowledge, and 67% (4/6) decreased or had a noninferior effect on decisional conflict. Intervention effects on GT uptake were mixed, which may reflect evolving eligibility criteria for GT. Our findings suggest novel interventions may promote informed GT decision making, but many were developed to complement traditional GC. Trials that assess the effects of decision support interventions in diverse samples and evaluate implementation strategies for efficacious interventions are warranted.

Exploring the role of a multidisciplinary hereditary gynecologic oncology clinic in epithelial ovarian cancer risk‐reducing surgical decision‐making practices: A mixed‐methods study

AbstractIndividuals that have gynecologic reproductive organs with pathogenic variants in BRCA1 or BRCA2 (“BRCA‐positive”) have an increased risk of developing high‐grade serous ovarian cancer (HGSOC). The majority of HGSOC develops in the fallopian tubes and later spreads to the ovaries and peritoneal cavity. Therefore, risk‐reducing salpingo‐oophorectomy (RRSO) is recommended for those who are BRCA‐positive to preventatively remove their ovaries and fallopian tubes. The Hereditary Gynecology Clinic (HGC) is a provincial program in Winnipeg, Canada, that specifically targets care to the unique needs of such individuals through an interdisciplinary team of gynecological oncologists, menopause specialists, and registered nurses. A mixed‐methods study design was used to explore the decision‐making processes of these BRCA‐positive individuals who have been recommended (or who completed) RRSO and experiences with healthcare providers at the HGC influenced this decision. Individuals who are BRCA‐positive without a previous diagnosis of HGSOC and who had previously received genetic counselling were recruited from the HGC and the provincial cancer genetics program (Shared Health Program of Genetics & Metabolism). Forty‐three people completed a survey and 15 participated in an in‐depth interview about their experiences and decisions surrounding RRSO. Surveys were analyzed to compare scores on validated scales related to decision‐making and cancer‐related worry. Qualitative interviews were transcribed, coded, and analyzed using interpretive description. Participants described the complex decisions faced by those who are BRCA‐positive, which are intertwined with life experiences and circumstances including age, marital status, and family disease history. Participants interpreted their HGSOC risk through a personalized “lens” of contextual factors that impacted perceptions about the practical and emotional implications of RRSO and the need for surgery. Mean scores on validated scales evaluating the HGC's impact on decisional outcomes and preparedness for decision‐making about RRSO were not significant, indicating that the HGC played a supportive role, rather than helping with decision‐making itself. Therefore, we present a novel framework that consolidates the various influences on decision‐making and connects them to the psychological and practical implications of RRSO in the context of the HGC. Strategies for improving support, decisional outcomes, and the overall experiences of individuals who are BRCA‐positive attending the HGC are also described.

iKNOWgynetics – A web‐based learning concept to empower primary care gynecologists to participate in the care of patients with a family history of breast and ovarian cancer

AbstractFamilial cancer burden and genetics play an increasingly important role in the early detection and prevention of gynecological cancers. However, people with hereditary cancer risks are often identified late when they already have cancer. We aimed at developing and evaluating a training concept for primary care gynecologists—iKNOWgynetics—to improve their knowledge and awareness of genetic cancer syndromes and their ability to identify patients with increased familial cancer risks based on up‐to‐date evidence and current guidelines (in Germany, primary care includes all doctors treating patients on an outpatient basis without a clear separation of the expertise of the doctor or of their specialty). Starting off with a needs assessment among primary care gynecologists, we developed and evaluated an online training concept—using a web‐based learning platform in combination with a live virtual seminar—to convey practice‐relevant knowledge about familial cancer. After registration, participants get access to the web‐based learning platform (www.iknowgynetics.de) to prepare for the virtual seminars and to use it as online reference to re‐access the contents after the training. Evaluation included multiple‐choice (MC) questions on knowledge and participants' self‐efficacy to implement the acquired knowledge, which were administered in a pre‐post design. Of 109 participants, 103 (94.5%) filled out pre‐ and post‐questionnaires. Eighty‐five participants were gynecologists in primary care from Berlin (81.2%) and Brandenburg (18.8%) and had an average of 24.1 years (SD = 8.5 years) of professional experience. After the training, participants answered significantly more knowledge questions correctly (M = 15.2 of 17, SD = 1.3) than before (M = 13.8 of 17, SD = 1.7) (p < 0.01) and felt more confident to be able to apply referral criteria for specialized counseling in practice (p < 0.001). The online‐based training iKNOWgynetics considers the busy schedule of primary care gynecologists and supports them in acquiring practice‐relevant information on familial cancer risks and on how to identify healthy persons at risk, which may ultimately help to improve the prevention of gynecological cancers. In future studies, the reported concept could be transferred to other entities.

Electronic medical record documentation of germline genetic evaluations in patients with ovarian cancer

AbstractGermline genetic evaluation is indicated for all patients with epithelial ovarian cancer (EOC). For testing to have clinical utility, results must be documented within the electronic medical record (EMR) and accessible to providers at the point of care, which can be challenging in the context of current EMR limitations and genetic testing processes. We examined the receipt of genetics services and EMR capture of genetic testing results in patients with EOC. We conducted a retrospective chart review to examine germline genetic evaluations among patients with EOC seen by a gynecologic or medical oncologist at the University of Pennsylvania in 2016. EMRs were reviewed to determine: (1) if patients were referred for genetic evaluation; (2) if genetic testing was performed; (3) if results were documented in office notes, scanned third‐party test reports, and/or the EMR problem list; (4) if provider notes correctly listed the variant classification. Overall, 413 (62%) of patients had documented genetic testing. Genetic testing was documented in almost all provider notes (96%) and the majority of scanned EMR reports (64%). Pathogenic variants were found in 119 (29%) individuals; the majority (70%) had genetic testing documented within EMR problem lists. Provider notes were highly accurate in describing variant classification. In this study, genetic testing was performed and documented in the EMR for most EOC patients. Approximately one‐third of those tested did not have scanned test reports specifying variant found, limiting the utility of test results for cascade testing and therapeutic decisions.

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

AbstractGenetic 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.

Patients' attitudes regarding genetic counseling before germline BRCA1/2 pathogenic variants testing in Taiwan: A single‐country, multi‐center, patient‐reported outcome study

AbstractGermline pathogenic variants of BRCA1 or BRCA2 cause hereditary breast and ovarian cancer syndromes. The present study investigated the participants' understanding and awareness of germline BRCA1/2 pathogenic variants before genetic counseling, the expectations and obstacles for genetic testing from the perspective of participants and their families, and their attitudes towards genetic testing after counseling. In this single‐country, multicenter, non‐interventional, patient‐reported outcome study, untested cancer patients and their families who visited genetic counseling clinics or who wanted to receive pre‐test genetic counseling were eligible to fill in the questionnaire after pre‐test counseling for germline BRCA1/2 testing. Demographic information, clinical characteristics, and information collected from the questionnaires, including the understanding of BRCA1/2 pathogenic variants before genetic counseling, understanding of BRCA1/2 pathogenic variants and feelings after genetic counseling, willingness to share results of genetic testing with family, and willingness to receive genetic testing, were summarized using descriptive statistics. A total of 88 participants were enrolled. The proportion of slight understanding of BRCA1/2 pathogenic variants increased from 11.4% to 67.0%, and the proportion of full understanding increased from 0% to 8.0%. After genetic counseling, most participants were willing to undergo genetic testing (87.5%) and share the results with their families (96.6%). The main factors that may affect participants' willingness to undergo BRCA1/2 testing were management (61.2%) and testing costs (25.9%). After pre‐test counseling, there was a high acceptance of BRCA1/2 testing and in‐family information sharing in Taiwanese patients with cancer and their families, which may serve as a reference for implementing genetic counseling in Taiwan.

The impact of a cascade testing video on recipients’ knowledge, cognitive message processing, and affective reactions: A formative evaluation

AbstractCascade genetic testing is essential to clarify cancer risk in families with hereditary breast and ovarian cancer syndrome (HBOC) due to pathogenic variants (PVs) in BRCA1 or BRCA2. To date, data suggest that family communication of genetic testing results, with or without the aid of clinical resources such as a provider‐written family letter, is impacted by multiple barriers. These barriers eventually lead to sub‐optimal uptake of cascade genetic testing. We designed a 2‐min animated video that a proband can share with relatives to notify them that the proband has tested positive for a pathogenic variant in BRCA1 or BRCA2. We studied the video via hypothetical scenario in an unselected population to simulate the process by which a relative receives unsolicited genetics information about their family member. We assessed the impact of the video on three specific domains: knowledge, cognitive message processing, and affective reactions. A total of 399 participants recruited through Amazon Mechanical Turk completed the study, and 373 were analyzed. The video significantly improved content knowledge/recall (p < .0001) from pre‐ to post‐video viewing, indicating effective message communication. Items used to measure cognitive processing showed preliminary tendencies toward systematic message processing, which could be desired in familial communication aimed at initiating a specific action—in this case, cascade genetic testing. A majority of participants (66%) reported positive affective reaction as they indicated that they would feel gratitude if they received the video message from a relative, and did not evidence a negative affective reaction to receiving the information. Our data suggest that a video message can effectively communicate information about cascade genetic testing to potential relatives with as little as two minutes of content. Our data suggest that video messaging to assist family communication is a reasonable approach that increases understanding and is unlikely to cause harm.

BRCA1/2 mutations and risk‐reducing bilateral salpingo‐oophorectomy among Latinas: The UPTAKE study

AbstractBilateral salpingo‐oophorectomy (BSO) is a risk management approach with strong evidence of mortality reduction for women with germline mutations in the tumor suppressor genes BRCA1 and BRCA2 (BRCA1/2). Few studies to date have evaluated uptake of BSO in women from diverse racial and ethnic backgrounds who carry BRCA1/2 mutations. The objective of the UPTAKE study was to explore rates and predictors of risk‐reducing BSO among Latinas affected and unaffected with breast cancer who had a deleterious BRCA1/2 mutation. We recruited 100 Latina women with deleterious BRCA1/2 mutations from community hospitals, academic health systems, community, and advocacy organizations. Women completed interviews in Spanish or English. We obtained copies of genetic test reports for participants who provided signed medical release. After performing threefold cross‐validation LASSO for variable selection, we used multiple logistic regression to identify demographic and clinical predictors of BSO. Among 100 participants, 68 had undergone BSO at the time of interview. Of these 68, 35 were US‐born (61% of all US‐born participants) and 33 were not (77% of the non‐US‐born participants). Among Latinas with BRCA1/2 mutations, older age (p = 0.004), personal history of breast cancer (p = 0.003), higher income (p = 0.002), and not having a full‐time job (p = 0.027) were identified as variables significantly associated with uptake of BSO. Results suggest a high rate of uptake of risk‐reducing BSO among a sample of Latinas with BRCA1/2 mutations living in the US. We document factors associated with BSO uptake in a diverse sample of women. Relevant to genetic counseling, our findings identify possible targets for supporting Latinas’ decision‐making about BSO following receipt of a positive BRCA1/2 test.

Patient‐reported outcomes associated with reflex BRCA1/2 tumor and subsequent germline panel genetic testing for high‐grade serous ovarian cancer

AbstractReflex genetic testing of tumor tissue is being completed to direct cancer treatment; however, the patient impact of this genetic testing model is unknown. This survey study evaluates psychological outcomes following tumor and germline genetic testing in individuals with a new diagnosis of high‐grade serous ovarian cancer (HGSOC). Individuals were recruited from two hospitals in Toronto, Canada. Participants completed surveys 1 week after receiving tumor results and 1 week after receiving germline results (which included genetic counseling). Outcomes included cancer‐related distress (Impact of Events Scale: IES), genetic testing‐related distress (Multidimensional Impact of Cancer Risk Assessment: MICRA), and patient satisfaction. Paired t‐tests were used to evaluate differences in outcomes following each genetic test result; Cohen's d was used to evaluate effect size. Subgroup analyses were undertaken according to age at diagnosis (<60 years vs. ≥60 years) and test results (any positive vs. both negative). McNemar's test assessed differences in satisfaction. Fifty‐two individuals were included in the analyses. Mean IES scores were similar following disclosure of tumor and germline results (27.39 vs. 26.14; p = 0.481; d = 0.101). Compared to following tumor result disclosure, MICRA scores were significantly lower following receipt of germline results with genetic counseling (27.23 vs. 22.69; p = 0.007; d = 0.435). Decreases in MICRA scores from tumor to germline result disclosure were greater for those diagnosed <60 years or those who received only negative test results. Most individuals were satisfied/highly satisfied following tumor (85.7%) and germline (89.8%) results disclosure (p = 0.774). Reflex tumor, and subsequent germline, genetic testing is a new model of care for cancer patients. In our cohort, genetic testing‐related distress decreased significantly following receipt of germline results with genetic counseling, especially for individuals diagnosed under 60 years and those receiving only negative results. Most individuals were satisfied with this model of care.

BRCAShare—Assessment of an animated digital message for intrafamilial communication of pathogenic variant positive test results: A feasibility study

AbstractWhile genetic testing for hereditary breast and ovarian cancer syndrome (HBOC) is well‐established in the field of medicine, family members' uptake of cascade genetic testing for known familial pathogenic variants remains low. Probands often become responsible for initiating familial communication about their testing results, and barriers to communication may include difficulty in conveying information to relatives and a lack of communication resources for probands' use. In this study, we tested a two‐minute animated digital message (ADM) intervention guided by the Health Belief Model (HBM) in an unselected sample to determine hypothetical individual perceptions of susceptibility and severity and behavioral intention to act on the information provided in the ADM. We recruited genetic testing naïve adults from the United States with no personal history of cancer through Amazon Mechanical Turk to participate in this study. Participants were presented a hypothetical scenario describing a relative's recent HBOC diagnosis, viewed the ADM, and answered a questionnaire assessing participants' perception of the HBM constructs in relation to the hypothetical scenario and participants' intentions to pursue cascade genetic testing, talk to a healthcare professional, or talk to family members after ADM viewing. Participants (n = 373) largely perceived HBOC as serious and believed that they could benefit from the information provided by genetic testing; 76% hypothetically intended to pursue genetic testing at a cost of $100 or less, and 90% intended to either pursue testing or talk to a healthcare provider or family members. This feasibility study in an unaffected population could mimic the experience of distant/less‐engaged relatives in HBOC families after receiving unexpected information about cascade genetic testing. Most participants demonstrated behavioral intention toward cascade testing, at a rate higher than literature would suggest is typical in high‐risk families, indicating that a theory‐supported, simple to use intervention may be useful in clinical practice.

Latinx attitudes, barriers, and experiences with genetic counseling and testing: A systematic review

AbstractAs genetics is increasingly used across clinical settings, there is a need to understand the impact and experiences of diverse patients. This review systematically examined research literature on Latinx experiences with genetic counseling and genetic testing (GC/GT) in the United States, synthesizing key themes and knowledge gaps pertaining to both patient experience and hypothetical scenarios. Findings were based on a systematic search, inclusion, and thematic analysis of 81 empirical peer‐reviewed articles published from January 1990 to July 2019 pertaining to Latinx populations and GC/GT. Studies most commonly addressed Latinas' perspectives on GC/GT in prenatal settings or for hereditary breast and ovarian cancer (HBOC). Costs, referrals, and communication were significant barriers to accessing genetic services for many Latinx patients, particularly those with low English proficiency (LEP). Studies highlighted difficulties accessing and communicating in healthcare settings, and how medical context and prior experience with healthcare workers and institutions influenced GC/GT decision‐making. Providers' implicit biases about Latinx patients negatively impacted their care and impeded communication. Despite low awareness of cancer GT, Latinx patients often reported interest in learning more about GC/GT or unmet needs for GT discussion and provider involvement. This systematic review identified areas where providers can take action to improve Latinx experiences with GC/GT. Clinicians should elicit and respond to patient preferences about shared decision‐making. For patients with low numeracy or LEP, providers should consider tailored educational and communication techniques. Most studies focused on HBOC and prenatal testing, and Latinx patients are heterogeneous, leaving many research questions about Latinx experience with GT/GC in other clinical areas.

Organizational readiness to implement population‐based screening and genetic service delivery for hereditary cancer prevention and control

AbstractDespite clinical guidelines, programs conducting population‐based screening and genetic service delivery for hereditary cancer prevention and control are rare in practice. We interviewed individuals (n = 13) instrumental in implementing seven unique clinical programs conducting either universal tumor screening for Lynch Syndrome or routine family history screening and provision of genetic services for hereditary breast and ovarian cancer in the United States. To characterize determinants of readiness to implement population‐based cancer genetic service delivery models, interviews and deductive codes drew on Weiner's theory of organizational readiness for change. Qualitative analysis identified themes across programs. The degree to which organizational stakeholders valued moving to a population‐based genetic service delivery model depended on the existence of aligned clinical guidelines at the time of program implementation. However, judgments of implementation capacity within the organization, particularly with respect to task demands and resource concerns, were more often barriers to readiness. Program champions were essential to facilitating readiness, frequently taking on substantial uncompensated work. These data suggest that developing interventions targeting change efficacy and cultivating practice change champions may be two promising ways to increase uptake of population‐based hereditary cancer screening and genetic service delivery in clinical practice.