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PURPOSE: To examine whether and how distrust of the health system and predisposition to use healthcare services influence frequency of mammograms and Clinical Breast Exams (CBEs). METHODS: A community-based survey recruited 184 women (age 47+/-12); 49% were college-educated, 77% had health insurance, and 57% were non-white. Distrust was measured with a four-item scale (Cronbach alpha=0.71); predisposition to use health services with an 11-item scale (Cronbach alpha=0.84). Ordinal regression analysis was used to test two models examining 'time since last mammogram' and 'time since last CBE.' The later model had a better goodness-of-fit, as indicated by a non-significant, Pearson coefficient. FINDINGS: Distrust to the health system was significantly correlated with age (r=-0.19*), income (r=-0.16*), and predisposition to use health services (r=-0.26**). Distrust predicted time since last CBE (B: 0.37, SE: 0.19*), which in turn was significantly correlated with time since last mammogram (r=0.44**). Predisposition to use health services predicted time since last CBE (B: -0.78, SE: 0.19**) and time since last mammogram (B: -0.47, SE: 0.22**). Insurance predicted time since last CBE (B: -0.94, SE: 0.44*), while age (B: -0.21, SE: 0.03**) and income (B: -0.19, SE: 0.09*) predicted time since last mammogram. CONCLUSION: Distrust of the healthcare system and predisposition to use health services influence breast cancer screening directly. Distrust interferes with behavioral patterns that favor recurrent breast cancer screening. PRACTICE IMPLICATIONS: Trustworthiness in the healthcare system and positive attitudes for the use of, health services enhance routine breast cancer screening. *p<0.05, **p<0.001. [ABSTRACT FROM AUTHOR]

Despite increased awareness and availability of genetic testing for hereditary breast and ovarian cancer (HBOC) syndrome for over 20 years, there is still significant underuse of cascade genetic testing among at-risk relatives. This scoping review synthesized evidence regarding psychosocial barriers and facilitators of family communication and/or uptake of cascade genetic testing in relatives from HBOC families. Search terms included 'hereditary breast and ovarian cancer' and 'cascade genetic testing' for studies published from 2012-2022. Through searching common databases, and manual search of references, 480 studies were identified after excluding duplications. Each article was reviewed by two researchers independently and 20 studies were included in the final analysis. CASP, RoBANS 2.0, RoB 2.0, and MMAT were used to assess the quality of included studies. A convergent data synthesis method was used to integrate evidence from quantitative and narrative data into categories and subcategories. Evidence points to 3 categories and 12 subcategories of psychosocial barriers and facilitators for cascade testing: (1) facilitators (belief in health protection and prevention; family closeness; decisional empowerment; family support, sense of responsibility; self-efficacy; supportive health professionals); (2) bidirectional concepts (information; perception of genetic/cancer consequences; negative emotions and attitude); and (3) barriers (negative reactions from family and negative family dynamics). Healthcare providers need to systematically evaluate these psychosocial factors, strengthen facilitators and alleviate barriers to promote informed decision-making for communication of genetic test results and uptake of genetic testing. Bidirectional factors merit special consideration and tailored approaches, as they can potentially have a positive or negative influence on family communication and uptake of genetic testing., (© 2024. The Author(s), under exclusive licence to Springer Nature B.V.)

Objective: We examined how responsibility (the "duty to inform relatives about genetic testing results") is understood and enacted among Swiss and Korean women carrying BRCA1 or BRCA2 pathogenic variants., Methods: In-depth interviews and/or focus groups with 46 Swiss and 22 Korean carriers were conducted, using an identical interview guide. Data were analyzed inductively and translated into English for cross-country comparisons., Results: We identified five modes of responsibility in both samples: Persuader, Enabler, Relayer, Delayer, and Decliner. The Enabler and Relayer modes were the most common in both countries. They followed the rational imperative of health and norms of competence and self-determination, respectively. The Relayer mode transmitted information without trying to influence relatives' decisions. The Delayer and Decliner modes withheld information, deeming it the best way to safeguard the family during that specific moment of its trajectory. Responsibility to disclose testing results was influenced by culturally diverging conceptions of the family unit and socio-contextual norms., Conclusion: Responsibility primarily reflects the imperative of health prevention; findings demonstrate various interpretations, including the sense of family caring achieved through controlled disclosure of genetic information., Practice Implications: Findings offer healthcare providers socio-anthropological insights to assist probands navigate the disclosure of genetic information within their families., Trial Registration Number: NCT04214210 (registered Nov 2, 2020), KCT 0005643 (registered Nov 23, 2020)., Competing Interests: Declaration of Competing Interest None, (Copyright © 2024 The Authors. Published by Elsevier B.V. All rights reserved.)

Introduction: In Kazakhstan, a country of 19 million residents, more than 100,000 patients need palliative care. Since at least one family member is usually involved in the care of a terminal patient, more than 200,000 people would benefit from high-quality palliative care services in the country. However, with only 45 physicians and 101 nurses attending to 1925 palliative beds, Kazakhstan seeks to develop palliative services that meet the national needs in resource-limited settings and international standards. The objectives of this study are to explore the challenges faced by stakeholders involved in palliative care in Kazakhstan and to subsequently provide recommendations that can guide policymakers towards further developing palliative care services in the country., Methods: This cross-sectional descriptive study collected narrative data with in-depth interviews from n= 29 palliative stakeholders (family caregivers n= 12, healthcare professionals =12, administrators n= 5) across five regions of Kazakhstan. Verbatim transcripts of interviews were analyzed using content analysis to identify needs and challenges of stakeholders involved in palliative care., Results: Our analysis identified seven main challenges of palliative care stakeholders: high out-of-pocket expenditures; lack of mobile palliative care services for home-based care; severe shortages of opioids to prevent pain suffering; poor formal palliative care education; absence of practical skills training for family caregivers; lack of awareness about palliative care in the society, and lack of state support., Conclusion: Implementation of national palliative care strategies and policies require a large-scale coordinated involvement of all stakeholders. Our recommendations are based on the idea that coordinated, targeted, and tailored stakeholder engagement is preferred to a one-size-fits-all strategy., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Background: The increased demand for genetic testing and counseling necessitates healthcare professionals (HCPs) to improve their genetic competency through training programs. This systematic review identified HCPs' learning needs and their perspectives on essential information for families with hereditary cancer., Methods: This review covered studies published from 2013 to 2024 across five databases. Data were analyzed using a content analysis., Results: Thirteen studies involving 332 HCPs were analyzed. Most studies focused on the learning needs of physicians caring for families affected by Hereditary Breast and Ovarian Cancer in North America and Europe. HCPs required training emphasizing practical counseling skills over the basics of genetics. Learning needs varied by profession: physicians needed training in assessing cancer risk and supporting decision-making in risk management; nurses required information on resources and the genetic care system; genetic counselors sought guidance on family communication and planning. Essential information identified for families included risk-reducing strategies, personalized cancer risk assessment, family implications, psychological issues, (cascade) genetic testing, and social concerns., Conclusions: The findings have implications for the development of training programs for HCPs, emphasizing the need for tailored training based on professions. Future research should explore the needs of HCPs caring for families with diverse hereditary cancers and cultural backgrounds.

Introduction: Efforts are needed across disciplines to close disparities in genomic healthcare. Nurses are the most numerous trained healthcare professionals worldwide and can play a key role in addressing disparities across the continuum of care. ACCESS is an empirically-based theoretical framework to guide clinical practice in order to ameliorate genomic disparities. Methods: The framework was developed by the International Nursing CASCADE Consortium based on evidence collected between 2005 and 2023 from individuals and families of various ethnic backgrounds, with diverse hereditary conditions, and in different healthcare systems, i.e., Israel, Korea, Switzerland, and several U.S. States. The components of the framework were validated against published scientific literature. Results: ACCESS stands for Advocating, Coping, Communication, cascadE Screening, and Surveillance. Each component is demonstrated in concrete examples of clinical practice within the scope of the nursing profession related to genomic healthcare. Key outcomes include advocacy, active coping, intrafamilial communication, cascade screening, and lifelong surveillance. Advocacy entails timely identification of at-risk individuals, facilitating referrals to specialized services, and informed decision-making for testing. Active coping enhances lifelong adaptation and management of disease risk. Effective intrafamilial communication of predisposition to hereditary disease supports cascade testing of unaffected at-risk relatives. Lifelong surveillance is essential for identifying recurrence, changes in health status, and disease trajectory for life-threatening and for life-altering conditions. Discussion: ACCESS provides a standardized, systematic, situational, and unifying guide to practice and is applicable for nursing and for other healthcare professions. When appropriately enacted it will contribute towards equitable access to genomic resources and services., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision., (Copyright © 2024 Katapodi, Pedrazzani, Barnoy, Dagan, Fluri, Jones, Kim, Underhill-Blazey, Uveges and Dwyer.)

The study adapted the Family Gene Toolkit and developed a customized web application for Swiss and Korean families harboring BRCA1 or BRCA2 pathogenic variants to support family communication of genetic testing results and promote cascade genetic testing among at-risk relatives. In the first step, narrative data from 68 women with BRCA1 / BRCA2 pathogenic variants and clinician feedback informed a culturally sensitive adaptation of the content consistent with current risk management guidelines. In the second step, the Information Technology team developed the functions and the interface of the web application that will host the intervention. In the third step, a new sample of 18 women from families harboring BRCA1 / BRCA2 pathogenic variants tested the acceptability and usability of the intervention using "think-aloud" interviews and a questionnaire. Participants expressed high levels of satisfaction with the intervention. They provided positive feedback for the information regarding active coping, strategies to enhance family communication, interactive elements, and illustrative stories. They reported that the information was useful and the web application was easy to navigate. Findings suggest that the Family Gene Toolkit is well-designed and can increase rates of cascade testing among at-risk relatives. Its efficacy will be tested in a subsequent randomized trial.

Background: Approximately 40 million people in need of palliative care worldwide, while 80% of them live in low- and middle-income countries. Kazakhstan, a low-to middle-income country with a reforming healthcare system, is committed to improving quality and accessibility of care for its 100,000 terminal patients in need of palliative care. Policy Options and Recommendations: To join the group of countries where palliative care is available, accessible, and affordable, Kazakhstan must integrate palliative services into the mainstream healthcare system at all levels, from primary healthcare to hospices, and from major cities to remote villages. Based on the evidence thoroughly collected directly from the Ministry of Health, authors propose a feasible set of recommendations regarding palliative policy, pain relief, infrastructure, workforce, and education, which could be implemented in LMICs beyond Kazakhstan. Conclusion: This study presents an analysis of challenges, recent developments, and needs of palliative care in Kazakhstan, including funding, policy, workforce, education, and infrastructure, providing an evidence base and recommendations for future development of palliative care in Kazakhstan and in other LMICs., Competing Interests: The authors declare that they do not have any conflicts of interest., (Copyright © 2023 Salikhanov, Connor, Kunirova, Khashagulgova, Nazarova, Crape and Katapodi.)

Approximately 60 million people require palliative care worldwide, and nearly 80% of them live in low- and middle-income countries (LMICs). Providing palliative care in remote and rural areas of LMICs requires special consideration to ensure equitable access to healthcare. This perspective aims to deliver pragmatic, context-oriented policy recommendations designed to improve palliative care outcomes in Kazakhstan by capitalizing on existing resources and considering its unique geopolitical and sociocultural context. With approximately half of the population in Kazakhstan residing in remote and rural regions, the provision of healthcare services - specifically palliative care - mandates particular attention to ensure equal access to high-quality care. To understand challenges of implementing palliative care in remote and rural regions of Kazakhstan and to propose tailored solutions, 29 key stakeholders, including family caregivers, health professionals, and palliative care administrators, were identified in five regions of Kazakhstan. The main challenges encountered by family caregivers include lack of palliative care skills, the need for home-based care from mobile services, and high out-of-pocket expenditures. The challenges highlighted by healthcare providers and administrators were the lack of formal education in palliative care, shortage of opioids, and limited societal awareness and state support. Based on challenges elaborated from stakeholders and existing literature in palliative care and family caregiving, this perspective advocates against replicating the strategies implemented in high-income countries. Family caregivers play a critical role in implementing affordable and efficient palliative care in resource-limited settings. Enhancing their competencies through digital training and increasing access to palliative care services through mobile teams are tailored and localized solutions that address specific challenges in Kazakhstan. It is postulated that these recommendations may find utility in other LMICs, potentially benefiting nearly 48 million individuals who require these services., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Salikhanov, Katapodi, Kunirova and Crape.)

Background: Cancer-related cognitive impairment (CRCI) is a common symptom in patients with breast cancer. In our previous study of 397 women with breast cancer, we identified 3 groups of patients with distinct CRCI profiles (ie, high, moderate, and low-moderate attentional function). Compared with the other 2 classes, the low-moderate class was younger, had more comorbidities, and with lower functional status., Objectives: In this study, we expand on this work and evaluate for differences among these latent classes in the severity of psychological (depression and anxiety) and physical (fatigue, decrements in energy, sleep disturbance, and pain) symptoms before surgery., Methods: Cancer-related cognitive impairment was assessed using the Attentional Functional Index from before through 6 months after surgery. Lower Attentional Functional Index scores indicate higher levels of CRCI. Psychological and physical symptoms were assessed with valid instruments. Parametric and nonparametric tests were used to evaluate for differences in symptom severity scores among the latent classes., Results: Approximately 60% of patients experienced CRCI (ie, moderate and low-moderate classes). Significant differences were found among the 3 classes in the severity of trait and state anxiety, depressive symptoms, fatigue, and sleep disturbance (ie, high < moderate < low-moderate). In addition, compared with the other 2 classes, the low-moderate class reported higher pain interference scores., Conclusions: These findings suggest that women with clinically meaningful levels of persistent CRCI have a relatively high symptom burden before surgery., Implications for Practice: Clinicians need to routinely perform preoperative assessments of CRCI and associated symptoms and initiate therapeutic interventions., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.)

Background: Hereditary breast and ovarian cancer and Lynch syndrome are associated with increased lifetime risk for common cancers. Offering cascade genetic testing to cancer-free relatives of individuals with HBOC or LS is a public health intervention for cancer prevention. Yet, little is known about the utility and value of information gained from cascade testing. This paper discusses ELSI encountered during the implementation of cascade testing in three countries with national healthcare systems: Switzerland, Korea, and Israel. Methods: A workshop presented at the 5th International ELSI Congress discussed implementation of cascade testing in the three countries based on exchange of data and experiences from the international CASCADE cohort. Results: Analyses focused on models of accessing genetic services (clinic-based versus population-based screening), and models of initiating cascade testing (patient-mediated dissemination versus provider-mediated dissemination of testing results to relatives). The legal framework of each country, organization of the healthcare system, and socio-cultural norms determined the utility and value of genetic information gained from cascade testing. Conclusion: The juxtaposition of individual versus public health interests generates significant ELSI controversies associated with cascade testing, which compromise access to genetic services and the utility and value of genetic information, despite national healthcare/universal coverage., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2023 Barnoy, Dagan, Kim, Caiata-Zufferey, Katapodi, the CASCADE and the K-CASCADE Consortia.)

Purpose: Personalized information is paramount to patient-centered communication and decision-making regarding risk management in hereditary cancer syndromes. This systematic review identified information needs of individuals from families harboring BRCA pathogenic variants and compared findings based on gender (women vs men) and clinical characteristics (patients with cancer vs previvors and BRCA heterozygotes vs untested relatives)., Methods: We screened 8115 studies identified from databases and citation searching. The quality of selected studies was assessed using the Mixed Methods Appraisal Tool. Narrative synthesis was conducted based on content analysis., Results: From 18 selected studies including 1063 individuals, we identified 9 categories of information needs. Risk of bias in the selected studies was moderate. Men, untested relatives, and racial and ethnic minorities were underrepresented. Frequently required information was personalized cancer risk and risk-reducing strategies, including decision-making, family implications of hereditary cancers, psychological issues, and cascade testing. Subgroup analyses showed that information needs depended on gender, personal cancer history, and cascade testing in relatives., Conclusion: We identified comprehensive and detailed informational needs of individuals from families harboring BRCA pathogenic variants and gaps in international guidelines. Needs for personalized information varied based on gender, health, and genetic testing status. Findings of this study have implications for genetic counseling, tailoring educational materials, and personalizing interventions., Competing Interests: Conflict of Interest The authors declare no conflicts of interest., (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)

Cascade genetic testing of relatives from families with pathogenic variants associated with hereditary breast and ovarian cancer (HBOC) or Lynch syndrome (LS) has important implications for cancer prevention. We compared the characteristics of relatives from HBOC or LS families who did not have genetic testing (GT (-) group) with those who had genetic testing (GT (+) group), regardless of the outcome. Self-administered surveys collected cross-sectional data between September 2017 and December 2021 from relatives participating in the CASCADE cohort. We used multivariable logistic regression with LASSO variable selection. Among n = 115 relatives who completed the baseline survey, 38% ( n = 44) were in the GT (-) group. Being male (OR: 2.79, 95% CI: 1.10-7.10) and without a previous cancer diagnosis (OR: 4.47, 95% CI: 1.03-19.42) increased the odds of being untested by almost three times. Individuals from families with fewer tested relatives had 29% higher odds of being untested (OR: 0.71, 95% CI: 0.55-0.92). Reasons for forgoing cascade testing were: lack of provider recommendation, lack of time and interest in testing, being afraid of discrimination, and high out-of-pocket costs. Multilevel interventions designed to increase awareness about clinical implications of HBOC and LS in males, referrals from non-specialists, and support for testing multiple family members could improve the uptake of cascade testing.

Background: We estimated the cost-effectiveness of universal DNA screening for Lynch syndrome (LS) among newly diagnosed patients with colorectal cancer (CRC) followed by cascade screening of relatives from the Swiss healthcare system perspective., Methods: We integrated decision trees with Markov models to calculate incremental cost per quality-adjusted life-year saved by screening all patients with CRC (alternative strategy) compared with CRC tumour-based testing followed by DNA sequencing (current strategy)., Results: The alternative strategy has an incremental cost-effectiveness ratio of CHF65 058 compared with the current strategy, which is cost-effective according to Swiss standards. Based on annual incidence of CRC in Switzerland, universal DNA screening correctly identifies all 123 patients with CRC with LS, prevents 17 LS deaths and avoids 19 CRC cases, while the current strategy leads to 32 false negative results and 253 LS cases lost to follow-up. One way and probabilistic sensitivity analyses showed that universal DNA testing is cost-effective in around 80% of scenarios, and that the cost of DNA testing and the number of invited relatives per LS case determine the cost-effectiveness ratio., Conclusion: Results can inform policymakers, healthcare providers and insurance companies about the costs and benefits associated with universal screening for LS and cascade genetic testing of relatives., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY. Published by BMJ.)

Low uptake of genetic services among members of families with hereditary breast and ovarian cancer (HBOC) suggests limitations of proband-mediated communication of genetic risk. This study explored how genetic information proceeds from healthcare providers to probands and from probands to relatives, from the probands' perspectives. Using a grounded-theory approach, we analyzed narrative data collected with individual interviews and focus groups from a sample of 48 women identified as carriers of HBOC-associated pathogenic variants from three linguistic regions of Switzerland. The findings describe the "communication chain", confirming the difficulties of proband-mediated communication. Provider-proband communication is impacted by a three-level complexity in the way information about family communication is approached by providers, received by probands, and followed-up by the healthcare system. Probands' decisions regarding disclosure of genetic risk are governed by dynamic and often contradictory logics of action, interconnected with individual and family characteristics, eventually compelling probands to engage in an arbitrating process. The findings highlight the relevance of probands' involvement in the communication of genetic risk to relatives, suggesting the need to support them in navigating the complexity of family communication rather than replacing them in this process. Concrete actions at the clinical and health system levels are needed to improve proband-mediated communication.

Cancer related cognitive impairment (CRCI) is a common and persistent symptom in breast cancer patients. The Attentional Function Index (AFI) is a self-report measure that assesses CRCI. AFI includes three subscales, namely effective action, attentional lapses, and interpersonal effectiveness, that are based on working memory, inhibitory control, and cognitive flexibility. Previously, we identified three classes of patients with distinct CRCI profiles using the AFI total scores. The purpose of this study was to expand our previous work using latent class growth analysis (LCGA), to identify distinct cognitive profiles for each of the AFI subscales in the same sample (i.e., 397 women who were assessed seven times from prior to through to 6 months following breast cancer surgery). For each subscale, parametric and non-parametric statistics were used to determine differences in demographic, clinical, and pre-surgical psychological and physical symptoms among the subgroups. Three-, four-, and two-classes were identified for the effective action, attentional lapses, and interpersonal effectiveness subscales, respectively. Across all three subscales, lower functional status, higher levels of anxiety, depression, fatigue, and sleep disturbance, and worse decrements in energy were associated with worse cognitive performance. These and other modifiable characteristics may be potential targets for personalized interventions for CRCI.

Aim: Demand for nipple- and skin- sparing mastectomy (NSM/SSM) with immediate breast reconstruction (BR) has increased at the same time as indications for post-mastectomy radiation therapy (PMRT) have broadened. The aim of the Oncoplastic Breast Consortium initiative was to address relevant questions arising with this clinically challenging scenario., Methods: A large global panel of oncologic, oncoplastic and reconstructive breast surgeons, patient advocates and radiation oncologists developed recommendations for clinical practice in an iterative process based on the principles of Delphi methodology., Results: The panel agreed that surgical technique for NSM/SSM should not be formally modified when PMRT is planned with preference for autologous over implant-based BR due to lower risk of long-term complications and support for immediate and delayed-immediate reconstructive approaches. Nevertheless, it was strongly believed that PMRT is not an absolute contraindication for implant-based or other types of BR, but no specific recommendations regarding implant positioning, use of mesh or timing were made due to absence of high-quality evidence. The panel endorsed use of patient-reported outcomes in clinical practice. It was acknowledged that the shape and size of reconstructed breasts can hinder radiotherapy planning and attention to details of PMRT techniques is important in determining aesthetic outcomes after immediate BR., Conclusions: The panel endorsed the need for prospective, ideally randomised phase III studies and for surgical and radiation oncology teams to work together for determination of optimal sequencing and techniques for PMRT for each patient in the context of BR., (Copyright © 2022 The Authors. Published by Elsevier Ltd.. All rights reserved.)

Introduction: Perceived breast cancer risk predicts screening behaviors. However, perceived risk is often inaccurate, notably in Black women, who often underestimate their risk despite having higher disease-specific mortality rates. We examined predictors of perceived breast cancer risk, and its impact on surveillance., Methods: We used baseline data from a randomized trial targeting unaffected women recruited by relatives with early-onset breast cancer. Data collection occurred between 2012 and 2013. Accuracy of perceived risk was assessed by comparing perceived risk to objective lifetime breast cancer risks, calculated with the Gail and Claus models. A multivariate mixed model regression examined predictors of accuracy of perceived risk. The impact of perceived risk on breast cancer surveillance was assessed with one-way ANOVAS comparing Black to White women., Results: Among participants, 21.4% self-identified as Black and 78.6% as White. Overall, 72.9% (n=247/339), 16.2% (n=55/339), and 10.9% (n=37/339) of participants overestimated, accurately perceived, and underestimated, respectively, their lifetime breast cancer risk. Race did not predict the accuracy of risk perception. Younger participants were more likely to overestimate their risk ( β =-.455; CI [-.772, -.138]; P=.005). MRI utilization was predicted by a higher objective risk (F 1,263 [= 30.271]; P<.001) and more accurate risk perception (P=.010; Fisher's exact test)., Conclusions: Most women with a family history of early-onset breast cancer inaccurately perceived their risk for developing the disease. Younger women were more likely to overestimate their risk. Findings can guide the development of tailored interventions to improve adherence to breast cancer surveillance recommendations., Competing Interests: Competing Interests: None declared., (Copyright © 2022, Ethnicity & Disease, Inc.)

Cascade screening for Tier 1 cancer genetic conditions is a significant public health intervention because it identifies untested relatives of individuals known to carry pathogenic variants associated with hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS). The Swiss CASCADE is a family-based, open-ended cohort, including carriers of HBOC- and LS-associated pathogenic variants and their relatives. This paper describes rates of cascade screening in relatives from HBOC- and LS- harboring families, examines carriers' preferences for communication of testing results, and describes theory-based predictors of intention to invite relatives to a cascade screening program. Information has been provided by 304 index cases and 115 relatives recruited from September 2017 to December 2021. On average, 10 relatives per index case were potentially eligible for cascade screening. Approximately 65% of respondents wanted to invite relatives to the cohort, and approximately 50% indicated a preference for patient-mediated communication of testing results, possibly with the assistance of digital technology. Intention to invite relatives was higher for first- compared to second- and third-degree relatives, but was not different between syndromes or based on relatives' gender. The family environment and carrying pathogenic variants predicts intention to invite relatives. Information helps optimize delivery of tailored genetic services.

Examining genetic literacy in families concerned with hereditary breast and ovarian cancer (HBOC) helps understand how genetic information is passed on from individuals who had genetic counseling to their at-risk relatives. This cross-study comparison explored genetic literacy both at the individual and the family level using data collected from three sequential studies conducted in the U.S. and Switzerland over ≥10 years. Participants were primarily females, at-risk or confirmed carriers of HBOC-associated pathogenic variants, who had genetic counselling, and ≥1 of their relatives who did not. Fifteen items assessed genetic literacy. Among 1933 individuals from 518 families, 38.5% had genetic counselling and 61.5% did not. Although genetic literacy was higher among participants who had counselling, some risk factors were poorly understood. At the individual level, genetic literacy was associated with having counselling, ≤5 years ago, higher education, and family history of cancer. At the family level, genetic literacy was associated with having counselling, higher education, and a cancer diagnosis. The findings suggest that specific genetic information should be emphasized during consultations, and that at-risk relatives feel less informed about inherited cancer risk, even if information is shared within families. There is a need to increase access to genetic information among at-risk individuals.

Background: In hereditary breast and ovarian cancer (HBOC), family communication of genetic test results is essential for cascade genetic screening, that is, identifying and testing blood relatives of known mutation carriers to determine whether they also carry the pathogenic variant, and to propose preventive and clinical management options. However, up to 50% of blood relatives are unaware of relevant genetic information, suggesting that potential benefits of genetic testing are not communicated effectively within family networks. Technology can facilitate communication and genetic education within HBOC families., Objective: The aims of this study are to develop the K-CASCADE (Korean-Cancer Predisposition Cascade Genetic Testing) cohort in Korea by expanding an infrastructure developed by the CASCADE (Cancer Predisposition Cascade Genetic Testing) Consortium in Switzerland; develop a digital health intervention to support the communication of cancer predisposition for Swiss and Korean HBOC families, based on linguistic and cultural adaptation of the Family Gene Toolkit; evaluate its efficacy on primary (family communication of genetic results and cascade testing) and secondary (psychological distress, genetic literacy, active coping, and decision making) outcomes; and explore its translatability using the reach, effectiveness, adoption, implementation, and maintenance framework., Methods: The digital health intervention will be available in French, German, Italian, Korean, and English and can be accessed via the web, mobile phone, or tablet (ie, device-agnostic). K-CASCADE cohort of Korean HBOC mutation carriers and relatives will be based on the CASCADE infrastructure. Narrative data collected through individual interviews or mini focus groups from 20 to 24 HBOC family members per linguistic region and 6-10 health care providers involved in genetic services will identify the local cultures and context, and inform the content of the tailored messages. The efficacy of the digital health intervention against a comparison website will be assessed in a randomized trial with 104 HBOC mutation carriers (52 in each study arm). The translatability of the digital health intervention will be assessed using survey data collected from HBOC families and health care providers., Results: Funding was received in October 2019. It is projected that data collection will be completed by January 2023 and results will be published in fall 2023., Conclusions: This study addresses the continuum of translational research, from developing an international research infrastructure and adapting an existing digital health intervention to testing its efficacy in a randomized controlled trial and exploring its translatability using an established framework. Adapting existing interventions, rather than developing new ones, takes advantage of previous valid experiences without duplicating efforts. Culturally sensitive web-based interventions that enhance family communication and understanding of genetic cancer risk are timely. This collaboration creates a research infrastructure between Switzerland and Korea that can be scaled up to cover other hereditary cancer syndromes., Trial Registration: ClinicalTrials.gov NCT04214210; https://clinicaltrials.gov/ct2/show/NCT04214210 and CRiS KCT0005643; https://cris.nih.go.kr/cris/., International Registered Report Identifier (irrid): PRR1-10.2196/26264., (©Sue Kim, Monica Aceti, Vasiliki Baroutsou, Nicole Bürki, Maria Caiata-Zufferey, Marco Cattaneo, Pierre O Chappuis, Florina M Ciorba, Rossella Graffeo-Galbiati, Viola Heinzelmann-Schwarz, Joon Jeong, MiSook M Jung, Sung-Won Kim, Jisun Kim, Myong Cheol Lim, Chang Ming, Christian Monnerat, Hyung Seok Park, Sang Hyung Park, Carla A Pedrazzani, Manuela Rabaglio, Jai Min Ryu, Ramon Saccilotto, Simon Wieser, Ursina Zürrer-Härdi, Maria C Katapodi. Originally published in JMIR Research Protocols (https://www.researchprotocols.org), 11.06.2021.)

Evidence-based guidelines recommend cascade genetic testing of blood relatives of known Hereditary Breast and Ovarian Cancer (HBOC) or Lynch Syndrome (LS) cases, to inform individualized cancer screening and prevention plans. The study identified interventions designed to facilitate family communication of genetic testing results and/or cancer predisposition cascade genetic testing for HBOC and LS. We conducted a systematic review and meta-analysis of randomized trials that assessed intervention efficacy for these two outcomes. Additional outcomes were also recorded and synthesized when possible. Fourteen articles met the inclusion criteria and were included in the narrative synthesis and 13 in the meta-analysis. Lack of participant blinding was the most common risk of bias. Interventions targeted HBOC ( n = 5); both HBOC and LS ( n = 4); LS ( n = 3); or ovarian cancer ( n = 2). All protocols ( n = 14) included a psychoeducational and/or counseling component. Additional components were decision aids ( n = 4), building communication skills ( n = 4), or motivational interviewing ( n = 1). The overall effect size for family communication was small ( g = 0.085) and not significant ( p = 0.344), while for cascade testing, it was small ( g = 0.169) but significant ( p = 0.014). Interventions show promise for improving cancer predisposition cascade genetic testing for HBOC and LS. Future studies should employ family-based approaches and include racially diverse samples.

BRCA1/2 genetic testing offers tremendous opportunities for prevention, diagnosis and treatment of breast and ovarian cancer. Women acquire valuable information that can help them to make informed decisions about their health. However, knowing one's susceptibility to developing cancer may be burdensome for several women, as this risk needs to be managed over time through a continuous dialogue with multiple healthcare professionals. We explored how communication between physicians and unaffected women carrying BRCA1/2 germline pathogenic variants was experienced by women in relation to their genetic risk. Data came from qualitative interviews conducted in Switzerland with 32 unaffected women carrying BRCA1/2 pathogenic variants and aware of their genetic status for at least 3 years. We identified three different types of message as conveyed by physicians to women: (1) a normative message, (2) an over-empowering message, and (3) a minimizing message. On one hand, we found that women are exposed to contradictory messages, often simultaneously, in their interactions with healthcare professionals during their post-genetic testing journey. On the other hand, women's reports highlighted the absence of shared decision-making in such interactions. The combination of these two findings resulted in a strong sense of disorientation, frustration, and powerlessness among participants. Healthcare professionals interacting with high cancer risk women are urged to align in favor of a both concerted and shared decision-making approach when discussing options for managing genetic risk., Competing Interests: The authors have declared that no competing interests exist.

We compared a tailored and a targeted intervention designed to increase genetic testing, clinical breast exam (CBE), and mammography in young breast cancer survivors (YBCS) (diagnosed <45 years old) and their blood relatives. A two-arm cluster randomized trial recruited a random sample of YBCS from the Michigan cancer registry and up to two of their blood relatives. Participants were stratified according to race and randomly assigned as family units to the tailored ( n = 637) or the targeted ( n = 595) intervention. Approximately 40% of participants were Black. Based on intention-to-treat analyses, YBCS in the tailored arm reported higher self-efficacy for genetic services ( p = 0.0205) at 8-months follow-up. Genetic testing increased approximately 5% for YBCS in the tailored and the targeted arm ( p ≤ 0.001; p < 0.001) and for Black and White/Other YBCS ( p < 0.001; p < 0.001). CBEs and mammograms increased significantly in both arms, 5% for YBCS and 10% for relatives and were similar for Blacks and White/Others. YBCS and relatives needing less support from providers reported significantly higher self-efficacy and intention for genetic testing and surveillance. Black participants reported significantly higher satisfaction and acceptability. Effects of these two low-resource interventions were comparable to previous studies. Materials are suitable for Black women at risk for hereditary breast/ovarian cancer (HBOC).

Background: The clinical utility of machine-learning (ML) algorithms for breast cancer risk prediction and screening practices is unknown. We compared classification of lifetime breast cancer risk based on ML and the BOADICEA model. We explored the differences in risk classification and their clinical impact on screening practices., Methods: We used three different ML algorithms and the BOADICEA model to estimate lifetime breast cancer risk in a sample of 112,587 individuals from 2481 families from the Oncogenetic Unit, Geneva University Hospitals. Performance of algorithms was evaluated using the area under the receiver operating characteristic (AU-ROC) curve. Risk reclassification was compared for 36,146 breast cancer-free women of ages 20-80. The impact on recommendations for mammography surveillance was based on the Swiss Surveillance Protocol., Results: The predictive accuracy of ML-based algorithms (0.843 ≤ AU-ROC ≤ 0.889) was superior to BOADICEA (AU-ROC = 0.639) and reclassified 35.3% of women in different risk categories. The largest reclassification (20.8%) was observed in women characterised as 'near population' risk by BOADICEA. Reclassification had the largest impact on screening practices of women younger than 50., Conclusion: ML-based reclassification of lifetime breast cancer risk occurred in approximately one in three women. Reclassification is important for younger women because it impacts clinical decision- making for the initiation of screening.

Context: Although approximately 75% of patients with breast cancer report changes in attentional function, little is known about how demographic, clinical, symptom, and psychosocial adjustment (e.g., coping) characteristics influence changes in the trajectories of attentional function over time., Objectives: This study evaluated interindividual variability in the trajectories of self-reported attentional function and determined which demographic, clinical, symptom, and psychosocial adjustment characteristics were associated with initial levels and with changes in attentional function from before through 12 months after breast cancer surgery., Methods: Before surgery, 396 women were enrolled. Attentional Function Index (AFI) was completed before and nine times within the first 12 months after surgery. Hierarchical linear modeling was used to determine which characteristics were associated with initial levels and trajectories of attentional function., Results: Given an estimated preoperative AFI score of 6.53, for each additional month, the estimated linear rate of change in AFI score was an increase of 0.054 (P < 0.001). Higher levels of comorbidity, receipt of adjuvant chemotherapy, higher levels of trait anxiety, fatigue, and sleep disturbance, and lower levels of energy and less sense of control were associated with lower levels of attentional function before surgery. Patients who had less improvements in attentional function over time were nonwhite, did not have a lymph node biopsy, had received hormonal therapy, and had less difficulty coping with their disease., Conclusion: Findings can be used to identify patients with breast cancer at higher risk for impaired self-reported cognitive function and to guide the prescription of more personalized interventions., (Copyright © 2020 American Academy of Hospice and Palliative Medicine. Published by Elsevier Inc. All rights reserved.)

Precision health refers to personalized healthcare based on a person's unique genetic, genomic, or omic composition within the context of lifestyle, social, economic, cultural and environmental influences to help individuals achieve well-being and optimal health. Precision health utilizes big data sets that combine omics (i.e. genomic sequence, protein, metabolite, and microbiome information) with clinical information and health outcomes to optimize disease diagnosis, treatment and prevention specific to each patient. Successful implementation of precision health requires interprofessional collaboration, community outreach efforts, and coordination of care, a mission that nurses are well-positioned to lead. Despite the surge of interest and attention to precision health, most nurses are not well-versed in precision health or its implications for the nursing profession. Based on a critical analysis of literature and expert opinions, this paper provides an overview of precision health and the importance of engaging the nursing profession for its implementation. Other topics reviewed in this paper include big data and omics, information science, integration of family health history in precision health, and nursing omics research in symptom science. The paper concludes with recommendations for nurse leaders in research, education, clinical practice, nursing administration and policy settings for which to develop strategic plans to implement precision health., (© 2020 Chinese Nursing Association. Production and hosting by Elsevier B.V.)

Purpose: To update the ASCO guideline on pharmacologic interventions for breast cancer risk reduction and provide guidance on clinical issues that arise when deciding to use endocrine therapy for breast cancer risk reduction., Methods: An Expert Panel conducted targeted systematic literature reviews to identify new studies., Results: A randomized clinical trial that evaluated the use of anastrozole for reduction of estrogen receptor-positive breast cancers in postmenopausal women at increased risk of developing breast cancer provided the predominant basis for the update., Updated Recommendations: In postmenopausal women at increased risk, the choice of endocrine therapy now includes anastrozole (1 mg/day) in addition to exemestane (25 mg/day), raloxifene (60 mg/day), or tamoxifen (20 mg/day). The decision regarding choice of endocrine therapy should take into consideration age, baseline comorbidities, and adverse effect profiles. Clinicians should not prescribe anastrozole, exemestane, or raloxifene for breast cancer risk reduction to premenopausal women. Tamoxifen 20 mg/day for 5 years is still considered standard of care for risk reduction in premenopausal women who are at least 35 years old and have completed childbearing. Data on low-dose tamoxifen as an alternative to the standard dose for both pre- and postmenopausal women with intraepithelial neoplasia are discussed in the Clinical Considerations section of this article. Additional information is available at www.asco.org/breast-cancer-guidelines.

Background: Comprehensive breast cancer risk prediction models enable identifying and targeting women at high-risk, while reducing interventions in those at low-risk. Breast cancer risk prediction models used in clinical practice have low discriminatory accuracy (0.53-0.64). Machine learning (ML) offers an alternative approach to standard prediction modeling that may address current limitations and improve accuracy of those tools. The purpose of this study was to compare the discriminatory accuracy of ML-based estimates against a pair of established methods-the Breast Cancer Risk Assessment Tool (BCRAT) and Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA) models., Methods: We quantified and compared the performance of eight different ML methods to the performance of BCRAT and BOADICEA using eight simulated datasets and two retrospective samples: a random population-based sample of U.S. breast cancer patients and their cancer-free female relatives (N = 1143), and a clinical sample of Swiss breast cancer patients and cancer-free women seeking genetic evaluation and/or testing (N = 2481)., Results: Predictive accuracy (AU-ROC curve) reached 88.28% using ML-Adaptive Boosting and 88.89% using ML-random forest versus 62.40% with BCRAT for the U.S. population-based sample. Predictive accuracy reached 90.17% using ML-adaptive boosting and 89.32% using ML-Markov chain Monte Carlo generalized linear mixed model versus 59.31% with BOADICEA for the Swiss clinic-based sample., Conclusions: There was a striking improvement in the accuracy of classification of women with and without breast cancer achieved with ML algorithms compared to the state-of-the-art model-based approaches. High-accuracy prediction techniques are important in personalized medicine because they facilitate stratification of prevention strategies and individualized clinical management.

Purpose: Increasing use of genetic services (counseling/testing) among young breast cancer survivors (YBCS) can help decrease breast cancer incidence and mortality. The study examined use of genetic services between Black and White/Other YBCS, attitudes and knowledge of breast cancer risk factors, and reasons for disparities in using genetic services., Methods: We used baseline data from a randomized control trial including a population-based, stratified random sample of 3000 potentially eligible YBCS, with oversampling of Black YBCS., Results: Among 883 YBCS (353 Black, 530 White/Other) were significant disparities between the two racial groups. More White/Other YBCS had received genetic counseling and had genetic testing than Blacks. Although White/Other YBCS resided farther away from board-certified genetic counseling centers, they had fewer barriers to access these services. Black race, high out-of-pocket costs, older age, and more years since diagnosis were negatively associated with use of genetic services. Black YBCS had lower knowledge of breast cancer risk factors. Higher education and genetic counseling were associated with higher genetic knowledge., Conclusion: Racial inequalities of cost-related access to care and education create disparities in genetic services utilization. System-based interventions that reduce socioeconomic disparities and empower YBCS with genetic knowledge, as well as physician referrals, can increase access to genetic services.

Objective: Women diagnosed with breast cancer younger than 45 years (young breast cancer survivors-YBCS) and their biological relatives face significant stressors. Although family support is an important coping resource, little is known about YBCS' and relatives' support and whether it is interdependent. The study described family support in YBCS and their biological relatives; identified demographic, clinical, and psychosocial predictors of support; and determined the interdependence of support in YBCS-relatives family units., Methods: Data were collected from a random sample of YBCS and their first- or second-degree female relatives. Actor-partner interdependence models (APIM) explored predictors and interdependence of YBCS' and relatives' family support in dyads (YBCS and relative) and triads (YBCS and two relatives)., Results: Among n = 310 YBCS and n = 431 first- or second-degree relatives, family support was higher in triads compared to dyads. APIMs identified actor effects in dyads, and actor and partner effects in triads. Across all family units, YBCS' higher self-efficacy was associated with higher YBCS support (actor effect) and relative support (partner effect); YBCS' prior diagnosis of depression was associated with lower YBCS and relative support (actor and partner effect); cost-related lack of access to care was associated with lower support among YBCS (actor effect) and relatives (actor and partner effect)., Conclusions: Family support was interdependent and was affected by self-efficacy, depression, and access to care. Interventions should include YBCS and relatives, enhance self-efficacy and access to care., (© 2018 The Authors. Cancer Medicine published by John Wiley & Sons Ltd.)

Purpose: This study examined clinical breast exam (CBE) and mammography surveillance in long-term young breast cancer survivors (YBCS) and identified barriers and facilitators to cancer surveillance practices., Methods: Data collected with a self-administered survey from a statewide, randomly selected sample of YBCS diagnosed with invasive breast cancer or ductal carcinoma in situ younger than 45 years old, stratified by race (Black vs. White/Other). Multivariate logistic regression models identified predictors of annual CBEs and mammograms., Results: Among 859 YBCS (n = 340 Black; n = 519 White/Other; mean age = 51.0 ± 5.9; diagnosed 11.0 ± 4.0 years ago), the majority (> 85%) reported an annual CBE and a mammogram. Black YBCS in the study were more likely to report lower rates of annual mammography and more barriers accessing care compared to White/Other YBCS. Having a routine source of care, confidence to use healthcare services, perceived expectations from family members and healthcare providers to engage in cancer surveillance, and motivation to comply with these expectations were significant predictors of having annual CBEs and annual mammograms. Cost-related lack of access to care was a significant barrier to annual mammograms., Conclusions: Routine source of post-treatment care facilitated breast cancer surveillance above national average rates. Persistent disparities regarding access to mammography surveillance were identified for Black YBCS, primarily due to lack of access to routine source of care and high out-of-pocket costs., Implications: Public health action targeting cancer surveillance in YBCS should ensure routine source of post-treatment care and address cost-related barriers. Clinical Trials Registration Number: NCT01612338.

Background: Carriers of breast cancer gene (BRCA) mutations are asked to communicate genetic test results to their biological relatives to increase awareness of cancer risk and promote use of genetic services. This process is highly variable from family to family. Interventions that support communication of genetic test results, coping, and offer decision support in families harboring a pathogenic variant may contribute to effective management of hereditary cancer., Objective: The aim of this paper was to describe the development of the Family Gene Toolkit, a Web-based intervention targeting BRCA carriers and untested blood relatives, designed to enhance coping, family communication, and decision making., Methods: We present findings from focus groups regarding intervention acceptability and participant satisfaction and from a pre-post pilot study with random allocation to a wait-listed control group regarding intervention feasibility and usability., Results: The Family Gene Toolkit was developed by a multidisciplinary team as a psycho-educational and skills-building intervention. It includes two live webinar sessions and a follow-up phone call guided by a certified genetic counselor and a master's prepared oncology nurse. Each live webinar includes two modules (total four modules) presenting information about BRCA mutations, a decision aid for genetic testing, and two skill-building modules for effective coping and family communication. Participants in focus groups (n=11) were highly satisfied with the intervention, reporting it to be useful and describing clearly the important issues. From the 12 dyads recruited in the pre-post pilot study (response rate 12/52, 23%), completion rate was 71% (10/14) for intervention and 40% (4/10) for wait-listed control groups., Conclusions: Acceptability and satisfaction with the Family Gene Toolkit is high. On the basis of the findings from usability and feasibility testing, modifications on timing, delivery mode, and recruitment methods have been implemented., Trial Registration: ClinicalTrials.gov NCT02154633; https://clinicaltrials.gov/ct2/show/NCT02154633 (Archived by WebCite at http://www.webcitation.org/6yYNvLPjv)., (©Maria C Katapodi, Miyeon Jung, Ann M Schafenacker, Kara J Milliron, Kari E Mendelsohn-Victor, Sofia D Merajver, Laurel L Northouse. Originally published in JMIR Cancer (http://cancer.jmir.org), 13.04.2018.)

Background: An international workshop on cancer predisposition cascade genetic screening for hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS) took place in Switzerland, with leading researchers and clinicians in cascade screening and hereditary cancer from different disciplines. The purpose of the workshop was to enhance the implementation of cascade genetic screening in Switzerland. Participants discussed the challenges and opportunities associated with cascade screening for HBOC and LS in Switzerland (CASCADE study); family implications and the need for family-based interventions; the need to evaluate the cost-effectiveness of cascade genetic screening; and interprofessional collaboration needed to lead this initiative., Methods: The workshop aims were achieved through exchange of data and experiences from successful cascade screening programs in the Netherlands, Australia, and the state of Ohio, USA; Swiss-based studies and scientific experience that support cancer cascade screening in Switzerland; programs of research in psychosocial oncology and family-based studies; data from previous cost-effectiveness analyses of cascade genetic screening in the Netherlands and in Australia; and organizational experience from a large interprofessional collaborative. Scientific presentations were recorded and discussions were synthesized to present the workshop findings., Results: The key elements of successful implementation of cascade genetic screening are a supportive network of stakeholders and connection to complementary initiatives; sample size and recruitment of relatives; centralized organization of services; data-based cost-effectiveness analyses; transparent organization of the initiative; and continuous funding., Conclusions: This paper describes the processes and key findings of an international workshop on cancer predisposition cascade screening, which will guide the CASCADE study in Switzerland., (© 2019 S. Karger AG, Basel.)

Background: Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland, affecting more than 12,000 individuals annually. Hundreds of these patients are likely to carry germline pathogenic variants associated with hereditary breast ovarian cancer (HBOC) or Lynch syndrome (LS). Genetic services (counseling and testing) for hereditary susceptibility to cancer can prevent many cancer diagnoses and deaths through early identification and risk management., Objective: Cascade screening is the systematic identification and testing of relatives of a known mutation carrier. It determines whether asymptomatic relatives also carry the known variant, needing management options to reduce future harmful outcomes. Specific aims of the CASCADE study are to (1) survey index cases with HBOC or LS from clinic-based genetic testing records and determine their current cancer status and surveillance practices, needs for coordination of medical care, psychosocial needs, patient-provider and patient-family communication, quality of life, and willingness to serve as advocates for cancer genetic services to blood relatives, (2) survey first- and second-degree relatives and first-cousins identified from pedigrees or family history records of HBOC and LS index cases and determine their current cancer and mutation status, cancer surveillance practices, needs for coordination of medical care, barriers and facilitators to using cancer genetic services, psychosocial needs, patient-provider and patient-family communication, quality of life, and willingness to participate in a study designed to increase use of cancer genetic services, and (3) explore the influence of patient-provider communication about genetic cancer risk on patient-family communication and the acceptability of a family-based communication, coping, and decision support intervention with focus group(s) of mutation carriers and relatives., Methods: CASCADE is a longitudinal study using surveys (online or paper/pencil) and focus groups, designed to elicit factors that enhance cascade genetic testing for HBOC and LS in Switzerland. Repeated observations are the optimal way for assessing these outcomes. Focus groups will examine barriers in patient-provider and patient-family communication, and the acceptability of a family-based communication, coping, and decision-support intervention. The survey will be developed in English, translated into three languages (German, French, and Italian), and back-translated into English, except for scales with validated versions in these languages., Results: Descriptive analyses will include calculating means, standard deviations, frequencies, and percentages of variables and participant descriptors. Bivariate analyses (Pearson correlations, chi-square test for differences in proportions, and t test for differences in means) will assess associations between demographics and clinical characteristics. Regression analyses will incorporate generalized estimating equations for pairing index cases with their relatives and explore whether predictors are in direct, mediating, or moderating relationship to an outcome. Focus group data will be transcribed verbatim and analyzed for common themes., Conclusions: Robust evidence from basic science and descriptive population-based studies in Switzerland support the necessity of cascade screening for genetic predisposition to HBOC and LS. CASCADE is designed to address translation of this knowledge into public health interventions., Trial Registration: ClinicalTrials.gov NCT03124212; https://clinicaltrials.gov/ct2/show/NCT03124212 (Archived by WebCite at http://www.webcitation.org/6tKZnNDBt)., (©Maria C Katapodi, Valeria Viassolo, Maria Caiata-Zufferey, Christos Nikolaidis, Rosmarie Bührer-Landolt, Nicole Buerki, Rossella Graffeo, Henrik Csaba Horváth, Christian Kurzeder, Manuela Rabaglio, Michael Scharfe, Corinne Urech, Tobias E Erlanger, Nicole Probst-Hensch, Karl Heinimann, Viola Heinzelmann-Schwarz, Olivia Pagani, Pierre O. Chappuis. Originally published in JMIR Research Protocols (http://www.researchprotocols.org), 20.09.2017.)

Objective: Fear of cancer recurrence, although distinct from distress continues to be under-evaluated, captured, or treated when standard distress scales are used to assess concerns of cancer survivors. We tested a model assessing the association of demographic and clinical factors, illness representations, and perceived risk with fear of cancer recurrence in breast cancer survivors., Methods: We recruited 117 breast cancer survivors at least one year after completing breast cancer treatment from Internet discussion boards for this cross-sectional, descriptive, correlational study. Participants completed a survey that assessed their level of fear of cancer recurrence as well as their illness representations, perceived risk of recurrence, and demographic and medical characteristics., Results: Our model explained 62% of the variance in fear of cancer recurrence. Emotional representations (β = .46, p < .01), symptom attribution (β = .21, p < .01), timeline (β = .23, p < .01), and consequences (β = .16, p < .03) were significantly related to fear of recurrence. By contrast, the majority of clinical and demographic variables were not significant contributors to fear of recurrence., Conclusions: Upon completion of cancer treatment, survivors with more emotional representations of the experience and those who attribute unrelated symptoms to their breast cancer have a higher level of fear of recurrence. Evaluation of these factors during treatment may help mitigate fear of recurrence in the survivorship phase of the breast cancer trajectory. Copyright © 2016 John Wiley & Sons, Ltd., (Copyright © 2016 John Wiley & Sons, Ltd.)

Purpose: Cancer genetic services (counseling/testing) are recommended for women diagnosed with breast cancer younger than 45 years old (young breast cancer survivors-YBCS) and at-risk relatives. We present recruitment of YBCS, identification and recruitment of at-risk relatives, and YBCS willingness to contact their cancer-free, female relatives., Methods: A random sample of 3,000 YBCS, stratified by race (Black vs. White/Other), was identified through a population-based cancer registry and recruited in a randomized trial designed to increase use of cancer genetic services. Baseline demographic, clinical, and family characteristics, and variables associated with the Theory of Planned Behavior (TPB) were assessed as predictors of YBCS' willingness to contact at-risk relatives., Results: The 883 YBCS (33.2% response rate; 40% Black) who returned a survey had 1,875 at-risk relatives and were willing to contact 1,360 (72.5%). From 853 invited at-risk relatives (up to two relatives per YBCS), 442 responded (51.6% response rate). YBCS with larger families, with a previous diagnosis of depression, and motivated to comply with recommendations from family members were likely to contact a greater number of relatives. Black YBCS were more likely to contact younger relatives and those living further than 50 miles compared to White/Other YBCS., Conclusion: It is feasible to recruit diverse families at risk for hereditary cancer from a population-based cancer registry. This recruitment approach can be used as a paradigm for harmonizing processes and increasing internal and external validity of large-scale public health genomic initiatives in the era of precision medicine.

Purpose: The purpose of this article is to provide an overview of Family History in the Electronic Health Record and to identify opportunities to advance the contributions of nurses in obtaining, updating and assessing family history in order to improve the health of all individuals and populations., Organizing Construct: The article presents an overview of the obstacles to charting Family History within the Electronic Health Record and recommendations for using specific Family History tools and core Family History data sets., Methods: Opportunities to advance nursing contributions in obtaining, updating, and assessing family history in order to improve the health of all individuals were identified. These opportunities are focused within the area of promoting the importance of communication within families and between healthcare providers to obtain, document, and update family histories., Findings: Nurses can increase awareness of existing resources that can guide collection of a comprehensive and accurate family history and facilitate family discussions. In this paper, opportunities to advance nursing contributions in obtaining, updating, and assessing family history in order to improve the health of all individuals were identified., Conclusions: Aligned with the clinical preparation of nurses, family health should be used routinely by nurses for risk assessment and to help inform patient and family members on screening, health promotion, and disease prevention. The quality of family health information is critical in order to leverage the use of genomic healthcare information and derive new knowledge about disease biology, treatment efficacy, and drug safety. These actionable steps need to be performed in the context of promoting evidence-based applications of family history that will be essential for implementing personalized genomic healthcare approaches and disease prevention efforts., Clinical Relevance: Family health history is one of the most important tools for identifying the risk of developing rare and chronic conditions, including cardiovascular disease, cancer, and diabetes, and represents an integration of disease risk from genetic, environmental, and behavioral/lifestyle factors. In fact, family history has long been recognized as a strong independent risk factor for disease and is the current best practice used in clinical practice to guide risk assessment., (© 2016 Sigma Theta Tau International.)

Introduction: African-American women have higher rates of early-onset breast cancer compared with their Caucasian counterparts; yet, when diagnosed with breast cancer at a young age, they underuse genetic counseling and testing to manage their risk of developing future cancers., Methods: Self-reported baseline data were collected between September 2012 and January 2013 and analyzed in 2014 from a subpopulation of 340 African-American young breast cancer survivors (YBCSs) enrolled in an RCT. YBCSs were diagnosed with invasive breast cancer or ductal carcinoma in situ between ages 20 and 45 years and were randomly selected from a statewide cancer registry. Logistic regression examined predictors of using cancer genetics services., Results: Overall, 28% of the sample reported having genetic counseling and 21% reported having genetic testing, which were significantly lower (p≤0.005) compared with white/other YBCSs participating in the parent study. In a multivariate analysis, income was positively associated with counseling (B=0.254, p≤0.01) and testing (B=0.297, p≤0.01), whereas higher education levels (B=-0.328, p≤0.05) and lack of access to healthcare services owing to cost (B=-1.10, p≤0.03) were negatively associated with genetic counseling. Lower income and lack of care because of high out-of-pocket costs were commonly reported barriers., Conclusions: Despite national recommendations for genetic evaluation among women with early-onset breast cancer, few African-American YBCSs reported undergoing genetic counseling and testing. Most reported that their healthcare provider did not recommend these services. Interventions addressing patient, provider, and structural healthcare system barriers to using genetic counseling and testing in this population are needed., (Copyright © 2016 American Journal of Preventive Medicine. All rights reserved.)

Purpose/objectives: To examine family caregivers' experience of mental fatigue, identify strategies they use to manage it, and ascertain the kind of help they would like from healthcare professionals.
., Research Approach: Descriptive, qualitative study that was part of a larger mixed-methods study.
., Setting: Metropolitan comprehensive cancer center in the midwestern United States.
., Participants: 79 family caregivers of patients with advanced cancer who were participating in phase I clinical trials.
., Methodologic Approach: Caregivers completed a semistructured, open-ended questionnaire and demographic and health history forms.
., Findings: Caregivers were able to define mental fatigue and give many examples of it. They reported that mental fatigue did not interfere with patient care, but that it did have a negative effect on their own self-care. They identified strategies to manage mental fatigue. They wanted more information and support from professionals.
., Conclusions: The majority of caregivers experienced mental fatigue, which manifested as trouble concentrating, difficulty remembering things, and irritability. The majority worked outside of the home and had health problems of their own.
., Interpretation: Healthcare professionals need to assess caregivers for mental fatigue and find ways to help them reduce mental fatigue and restore their attention. Nurses are in a prime position to mobilize resources for caregivers to effectively manage burden and reduce mental fatigue.

Background: Genomic discoveries in the era of precision medicine hold the promise for tailoring healthcare, symptom management, and research efforts including targeting rare and common diseases through the identification and implementation of genomic-based risk assessment, treatment, and management. However, the translation of these discoveries into tangible benefits for the health of individuals, families, and the public is evolving., Purpose: In this article, members of the Genetics Expert Panel identify opportunities for action to increase advanced practice nursing and research contributions toward improving genomic health for all individuals and populations., Discussion: Identified opportunities are within the areas of: bolstering genomic focused advanced practice registered nurse practice, research and education efforts; deriving new knowledge about disease biology, risk assessment, treatment efficacy, drug safety and self-management; improving resources and systems that combine genomic information with other healthcare data; and advocating for patient and family benefits and equitable access to genomic healthcare resources., (Copyright © 2016 Elsevier Inc. All rights reserved.)

Purpose: This integrative review was conducted to examine factors that influence mammography screening and use of cancer genetic services among younger African American women at increased risk for developing breast cancer., Data Sources: Research articles were identified using PubMed, CINAHL, PsychINFO, and Cochrane library to find studies published from 2003 to 2013., Conclusions: Findings from this review indicate that while younger African American women receive mammograms more often than the general population, they are not being referred for genetic testing when appropriate. This is a major concern because African American women tend to experience more aggressive forms of breast cancer at an earlier age than the general population; it is imperative that they undergo genetic testing for optimal management of their breast cancer risk., Implications for Practice: Nurse practitioners have a significant role in breast cancer screening and genetic testing of at-risk women, particularly in identifying and referring young women for testing. Further communication efforts are needed to improve young women's knowledge of breast cancer risk and the benefits of genetic testing. Reducing barriers to breast healthcare services requires nursing efforts that focus on populations at greatest risk for poor health outcomes., (©2015 American Association of Nurse Practitioners.)

Background: Little is known about family members' interrelated decisions to seek genetic testing for breast cancer susceptibility., Methods: The specific aims of this cross-sectional, descriptive, cohort study were (i) to examine whether individual and family characteristics have a direct effect on women's decisions to use genetic testing for hereditary susceptibility to breast cancer and (ii) to explore whether family characteristics moderate the relationships between individual characteristics and the decision to use genetic testing. Participants were women (>18 years old) who (i) received genetic testing for hereditary breast cancer and who agreed to invite one of their female relatives into the study and (ii) female relatives who had NOT obtained genetic testing and were identified by pedigree analysis as having >10% chances of hereditary susceptibility to breast cancer., Results: The final sample consisted of 168 English-speaking, family dyads who completed self-administered, mailed surveys with validated instruments. Multivariate conditional logistic regression analyses showed that the proposed model explained 62% of the variance in genetic testing. The factors most significantly associated with genetic testing were having a personal history of cancer; perceiving genetic testing to have more benefits than barriers; having greater family hardiness; and perceiving fewer negative consequences associated with a breast cancer diagnosis. No significant interaction effects were observed., Conclusions: Findings suggest that both individual and family characteristics are associated with the decision to obtain genetic testing for hereditary breast cancer; hence, there is a need for interventions that foster a supportive family environment for patients and their high-risk relatives., (Copyright © 2012 John Wiley & Sons, Ltd.)

Background: The Michigan Prevention Research Center, the University of Michigan Schools of Nursing, Public Health, and Medicine, and the Michigan Department of Community Health propose a multidisciplinary academic-clinical practice three-year project to increase breast cancer screening among young breast cancer survivors and their cancer-free female relatives at greatest risk for breast cancer., Methods/design: The study has three specific aims: 1) Identify and survey 3,000 young breast cancer survivors (diagnosed at 20-45 years old) regarding their breast cancer screening utilization. 2) Identify and survey survivors' high-risk relatives regarding their breast cancer screening utilization. 3) Test two versions (Targeted vs. Enhanced Tailored) of an intervention to increase breast cancer screening among survivors and relatives. Following approval by human subjects review boards, 3,000 young breast cancer survivors will be identified through the Michigan Cancer Registry and mailed an invitation letter and a baseline survey. The baseline survey will obtain information on the survivors': a) current breast cancer screening status and use of genetic counseling; b) perceived barriers and facilitators to screening; c) family health history. Based on the family history information provided by survivors, we will identify up to two high-risk relatives per survivor. Young breast cancer survivors will be mailed consent forms and baseline surveys to distribute to their selected high-risk relatives. Relatives' baseline survey will obtain information on their: a) current breast cancer screening status and use of genetic counseling; and b) perceived barriers and facilitators to screening. Young breast cancer survivors and high-risk relatives will be randomized as a family unit to receive two versions of an intervention aiming to increase breast cancer screening and use of cancer genetic services. A follow-up survey will be mailed 9 months after the intervention to survivors and high-risk relatives to evaluate the efficacy of each intervention version on: a) use of breast cancer screening and genetic counseling; b) perceived barriers and facilitators to screening; c) self-efficacy in utilizing cancer genetic and screening services; d) family support related to screening; e) knowledge of breast cancer genetics; and f) satisfaction with the intervention., Discussion: The study will enhance efforts of the state of Michigan surrounding cancer prevention, control, and public health genomics.

Objectives: To provide an overview of patient and caregiver emotional distress; examine the sources of their distress, review evidence-based interventions that can reduce distress, and provide guidelines for assessment and intervention., Data Sources: Peer-reviewed publications., Conclusion: There is a significant, reciprocal relationship between patient and caregiver emotional distress. Sources of distress vary by phase of illness. Evidence-based interventions can reduce distress and anxiety, but often are not implemented in practice., Implications for Nursing Practice: Nurses need to assess patients and family caregivers for distress and intervene to reduce distress by fostering patient-caregiver teamwork, communication, and self-care; providing information; and referring to resources as needed., (Copyright © 2012 Elsevier Inc. All rights reserved.)

Background: : Hereditary breast and ovarian cancer (HBOC) syndrome is attributed mostly to mutations in the Breast Cancer 1 and Breast Cancer 2 genes (BRCA1/2). Mutation carriers of BRCA1/2 genes have significantly higher risk for developing breast cancer compared with the general population (55%-85% vs. 12%) and for developing ovarian cancer (20%-60% vs. 1.5%). The availability of genetic testing enables mutation carriers to make informed decisions about managing their cancer risk (e.g., risk-reducing surgery). However, uptake of testing for HBOC among high-risk individuals is low, indicating the need to better understand and measure the decisional conflict associated with this process., Objective: : The aim of this study was to evaluate the reliability and validity of the modified Decisional Conflict Scale for use in decisions associated with genetic testing for HBOC., Methods: : This cross-sectional cohort study, recruited women who pursued genetic testing for HBOC in two genetic risk assessment clinics affiliated with a large comprehensive cancer center and one of their female relatives who did not pursue testing. The final sample consisted of 342 women who completed all 16 items of the Decisional Conflict Scale. The psychometric properties of the scale were assessed using tests of reliability and validity, including face, content, construct, contrast, convergent, divergent, and predictive validity., Results: : Factor analysis using principal axis factoring with oblimin rotation elicited a three-factor structure: (a) Lack of Knowledge About the Decision (α = .97), (b) Lack of Autonomy in Decision Making (α = .94), and (c) Lack of Confidence in Decision Making (α = .87). These factors explained 82% of the variance in decisional conflict about genetic testing. Cronbach's alpha coefficient was .96., Discussion: : The instrument is an important tool for researchers and healthcare providers working with women at risk for HBOC who are deciding whether genetic testing is the right choice for them.