Mainstreaming in parallel with ovarian cancer tumor testing to improve genetic testing uptake.

OBJECTIVES: Although genetic testing (GT) is universally recommended for patients with epithelial ovarian cancer (EOC), rates are low (34%). In 1/2019, we implemented mainstreaming-GT in parallel with tumor testing via MSK-IMPACT within oncology clinics. We sought to determine GT rates pre/post-mainstreaming and patient characteristics associated with GT. METHODS: Patients with newly diagnosed EOC seen at our institution from 7/1/2015-3/31/2022 were included. Clinical data were abstracted including social determinants of health (SDOH) variables, race/ethnicity, marital status, insurance, language, comorbidities, employment, and Yost index, a measure of socioeconomic status. GT rates were calculated overall and pre-/post-mainstreaming (1/2019). Logistic regression models were fit to identify variables associated with GT. RESULTS: Of 1742 patients with EOC, 1591 (91%) underwent GT. Rates of GT increased from 87% to 95% after mainstreaming (p < 0.001). Among 151 patients not undergoing GT, major reasons were lack of provider recommendation (n = 76, 50%) and logistical issues (n = 38, 25%) with few declining (n = 14, 9%) or having medical complications preventing GT (n = 7, 4.6%). High-grade serous histology, advanced stage (III/IV), and having a spouse/partner were associated with increased GT uptake (p < 0.01). Among SDOH variables, there were no differences by insurance, Yost score, language, comorbidities, employment, or race/ethnicity. In multivariable models, likelihood of GT increased with mainstreaming, even after adjustment for histology, stage, and marital status (OR 3.77; 95% CI: 2.56-5.66). CONCLUSIONS: Mainstreaming increased the likelihood of GT in patients with EOC. We found lower testing rates in patients without partners/spouses, non-high-grade serous histology, and early-stage disease, representing potential areas for future interventions.

Patient decision aids in mainstreaming genetic testing for women with ovarian cancer: A prospective cohort study.

OBJECTIVE: To evaluate patient preference for short (gist) or detailed/extensive decision aids (DA) for genetic testing at ovarian cancer (OC) diagnosis. DESIGN: Cohort study set within recruitment to the Systematic Genetic Testing for Personalised Ovarian Cancer Therapy (SIGNPOST) study (ISRCTN: 16988857). SETTING: North-East London Cancer Network (NELCN) population. POPULATION/SAMPLE: Women with high-grade non-mucinous epithelial OC. METHODS: A more detailed DA was developed using patient and stakeholder input following the principles/methodology of IPDAS (International Patients Decision Aids Standards). Unselected patients attending oncology clinics evaluated both a pre-existing short and a new long DA version and then underwent mainstreaming genetic testing by a cancer clinician. Appropriate inferential descriptive and regression analyses were undertaken. MAIN OUTCOME MEASURES: Satisfaction, readability, understanding, emotional well-being and preference for long/short DA. RESULTS: The mean age of patients was 66 years (interquartile range 11), and 85% were White British ethnicity. Of the participants, 74% found DAs helpful/useful in decision-making. Women reported higher levels of satisfaction (86% versus 58%, p < 0.001), right amount of information provided (76.79% versus49.12%, p < 0.001) and improved understanding (p < 0.001) with the long DA compared with the short DA. There was no statistically significant difference in emotional outcomes (feeling worried/concerned/reassured/upset) between 'short' and 'long' DA; 74% of patients preferred the long DA and 24% the short DA. Patients undergoing treatment (correlation coefficient (coef) = 0.603; 95% CI 0.165-1.041, p = 0.007), those with recurrence (coef = 0.493; 95% CI 0.065-0.92, p = 0.024) and older women (coef = 0.042; 95% CI 0.017-0.066, p = 0.001) preferred the short DA. Ethnicity did not affect outcomes or overall preference for long/short DA. CONCLUSIONS: A longer DA in OC patients has higher satisfaction without increasing emotional distress. Older women and those undergoing treatment/recurrence prefer less extensive information, whereas those in remission preferred a longer DA.

Equity in HIV/AIDS services requires optimization of mainstreaming sectors in Ethiopia.

BACKGROUND: Mainstreaming HIV and AIDS across sectors is crucial to close the disparities in service provision and coverage. However, evidence has shown that certain social groups are left behind in receiving HIV/AIDS services. The objective of this study was twofold: to understand the reasons behind the existing inequities and to explore challenges of equity in HIV/AIDS services in the Amhara region of Ethiopia. METHODS: Twenty-two adults (aged 26-57 years) from eighteen sectors that are mainstreaming HIV and AIDS were purposefully selected until the point of saturation and participated in a semi-structured in-depth interview conducted between January 20 and February 17, 2023. Interviewees were asked to describe their mainstreaming experiences in equitable HIV/AIDS services, reflect on the challenges and barriers that impede equitable service provision, or explain the reasons behind the existence of inequity in HIV/AIDS services. The interviews were audio recorded, transcribed, translated, and iteratively analysed, with early analysis informing subsequent interviews. An inductive-reflexive thematic analysis was conducted, whereby themes and subthemes were identified, and the relationships between subthemes and patterns were critically reviewed. RESULTS: The challenges to equitable HIV/AIDS service provision were grouped into eight thematic areas: (1) changing contexts that shifts public and government attention to emerging diseases, war and political instability, and poverty; (2) leadership-related, such as the lack of supervision and monitoring, not politicising HIV/AIDS (not providing political attention to HIV/AIDS) and weak intersectoral collaboration; (3) financial constraints due to a random budgeting and contract interruption with non-governmental organisations (NGOs); (4) lack of resources due to scarcity and unfair distribution; (5) inadequate skilled personnel due to inadequate numbers and lack of continuous professional and career development; (6) lack of equity-related evidence-based tools and guidelines; (7) inadequate understanding of equity due to lack of training and misunderstanding, and lack of access to equity-oriented tools and guidelines; and (8) cultural norms, values, and perceptions. CONCLUSIONS: This study identified critical challenges faced in the equitable HIV/AIDS services provision. To achieve equity in HIV/AIDS services, mainstreaming sectors need to invest in mechanisms to sustain services in emergency situations; identify effective leaders to maintain collaboration, monitoring, and evaluation; institutionalise responsive budgeting and establish alternative funds to maintain non-governmental organisations initiatives; provide continuous up-to-date training and create a common evidence-sharing platform; implement proper recruitment, education, and professional development of HIV/AIDS focal persons; and promote and practice culturally safe care. It is, therefore, essential to optimise sectors that are mainstreaming HIV/AIDS and incorporate equity considerations in their strategic plans and working guidelines.

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.

The 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.

From diagnosis of colorectal cancer to diagnosis of Lynch syndrome: The RM Partners quality improvement project.

AIM: The UK National Institute for Health and Care Excellence guideline DG27 recommends universal testing for Lynch syndrome (LS) in all newly diagnosed colorectal cancer (CRC) patients. However, DG27 guideline implementation varies significantly by geography. This quality improvement project (QIP) was developed to measure variation and deliver an effective diagnostic pathway from diagnosis of CRC to diagnosis of LS within the RM Partners (RMP) West London cancer alliance. METHOD: RM Partners includes a population of 4 million people and incorporates nine CRC multidisciplinary teams (MDTs), overseen by a Pathway Group, and three regional genetic services, managing approximately 1500 new CRC cases annually. A responsible LS champion was nominated within each MDT. A regional project manager and nurse practitioner were appointed to support the LS champions, to develop online training packages and patient consultation workshops. MDTs were supported to develop an 'in-house' mainstreaming service to offer genetic testing in their routine oncology clinics. Baseline data were collected through completion of the LS pathway audit of the testing pathway in 30 consecutive CRC patients from each CRC MDT, with measurement of each step of the testing pathway. Areas for improvement in each MDT were identified, delivered by the local champion and supported by the project team. RESULTS: Overall, QIP measurables improved following the intervention. The Wilcoxon signed rank test revealed significant differences with strong effect sizes on the percentile of CRC cases undergoing mismatch repair (MMR) testing in endoscopic biopsies (p = 0.008), further testing with either methylation or BRAF V600E (p = 0/03) and in effective referral for genetic testing (from 10% to 74%; p = 0.02). During the QIP new mainstreaming services were developed, alongside the implementation of systematic and robust testing pathways. These pathways were tailored to the needs of each CRC team to ensure that patients with a diagnosis of CRC had access to testing for LS. Online training packages were produced which remain freely accessible for CRC teams across the UK. CONCLUSION: The LS project was completed by April 2022. We have implemented a systematic approach with workforce transformation to facilitate identification and 'mainstreamed' genetic diagnosis of LS. This work has contributed to the development of a National LS Transformation Project in England which recommends local leadership within cancer teams to ensure delivery of diagnosis of LS and integration of genomics into clinical practice.

Adolescents and Young Adults Evaluating a Website for Affective-Sexual Information and Education: Multicenter Cross-Sectional Study.

BACKGROUND: Today's young people have long been demanding a paradigm shift in the emotional and sexual education they receive. While for them, affective-sexual and gender diversity is already a reality, the sexual and reproductive health professionals they encounter lack sufficient training. The digital devices and affective-sexual education websites aimed at today's young people must also be thoroughly evaluated. The website Sexe Joves is a website on sexuality by the Department of Health of the Government of Catalonia (Spain). It is designed for people aged 14 to 25 years. It currently needs to undergo a process of evaluation. Affective-sexual education aimed at young people must stem from their participation and the whole range of sexual and gender diversity in order to reach the entire population equally. OBJECTIVE: The aim of this study was to evaluate the website Sexe Joves as a source of affective-sexual health information, education, and communication for young people. It takes into account sex, gender identity, sexual orientation, socioeconomic status, and location within Catalonia (urban, semiurban, and rural areas). METHODS: This was an observational, descriptive, and cross-sectional study that forms part of a larger mixed methods study. An ad hoc questionnaire was used to collect data. In total, 1830 participants were included. The study was carried out simultaneously in all the territorial administrations of Catalonia. RESULTS: Almost 30% of the sample obtained were young people who experience affective-sexual and gender diversity. Of those surveyed, only 14.2% (n=260) said they were familiar with the website and of these, 6.5% said they used it (n=114). The website content rated most indispensable was on sexual abuse, harassment, and violence, followed by sexually transmitted infections; 70.5% (n=1200) reported that they visit pornographic websites. CONCLUSIONS: The results of this study will contribute to the design of new strategies for the website Sexe Joves, a public health resource, in order to improve affective sexual education for young people. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): RR2-10.3390/ijerph192416586.

Inclusive education for children with disabilities in a refugee camp.

Children in refugee camps, and particularly those with disabilities, face unique challenges in accessing education and are at high risk of being marginalised. Best practices suggest that main-streaming is the optimal strategy for serving students with disabilities. This study examines the extent to which mainstreaming in a refugee camp helps to promote children's prosocial behaviours, taking into account their emotional and behavioural problems. In Kakuma Refugee Camp, Kenya, researchers collected data from the parents of children currently enrolled in special needs education centres (n=65) and from those formerly enrolled at these facilities who transitioned to mainstream classrooms (n=81). Children in mainstream schools functioned better in terms of prosocial behaviours, but this relationship disappeared when factoring in children's emotional and behavioural difficulties. In the context of a refugee camp, mainstreaming alone is not likely to help children's psychosocial and educational functioning, which requires dedicated supports, appropriate facilities and infrastructure, and a dual focus on disability-specific and disability-inclusive initiatives.

Mainstream genetic testing for high-grade ovarian, tubal and peritoneal cancers: A tertiary referral centre experience.

BACKGROUND: Fifteen percent of ovarian, tubal, and peritoneal (OTP) invasive epithelial cancers are linked to an underlying heritable pathogenic variant (PV) in the BRCA1/2 cancer susceptibility genes. Identifying a PV has management implications for an affected individual and relatives. Cancer team-facilitated genetic testing (mainstreaming) aims to provide equitable systematic access to genetic testing for appropriate patients. AIM: To evaluate a multi-disciplinary team (MDT)-led mainstream germline genetic testing program for OTP cancer at a tertiary referral centre. MATERIALS AND METHODS: We conducted a retrospective review of our MDT-led mainstream genetic testing program initiated in June 2017. We included all patients diagnosed with OTP cancer registered with the hospital gynaecological oncology MDT from program initiation to December 2020. Patients were considered eligible for testing if they were diagnosed with a high-grade epithelial OTP AND ≤70 years, OR if >70 with a first/second degree relative with breast and/or ovarian cancer OR Jewish ancestry. RESULTS: Of 205 women diagnosed with high-grade epithelial OTP cancer, 140 were eligible for mainstreaming. Eight-five percent were mainstreamed, with the gynae-oncologists facilitating 64.5% of tests. The overall PV detection rate in BRCA1/2 was 10.1% (BRCA1 n = 9, BRCA2 n = 3). The median turnaround time (TAT) was 44.5 days (range 16-118). All women with PV were referred to the Familial Cancer Service for further assessment and five (of six eligible; 83%) were subsequently treated with polyadenosine diphosphate ribose polymerase inhibitors. Cascade testing was undertaken in 75% of families with a mean of three relatives tested per proband. CONCLUSION: Mainstreamed genetic testing is feasible, with an acceptable TAT, ensuring adequate opportunity to inform treatment decisions. Tumour testing and inclusion of moderate-risk cancer predisposition genes in mainstreaming represent potential pathways that will require further exploration.

Polarization or Mainstreaming? How COVID-19 News Exposure Affects Perceived Seriousness of the Pandemic and the Susceptibility to COVID-19 Misinformation?

Two surveys investigated whether the exposure to COVID-19 news widens (polarization) or narrows (mainstreaming) the partisan gap in perceived seriousness of the pandemic, and how the perception affects individuals' susceptibility to COVID-19 misinformation that either exaggerates or downplays its health risks. Overall exposure to COVID-19 news homogenized the partisans' otherwise divergent risk perceptions, but the partisan divide was wider among those selectively approaching like-minded news outlets. Perceived seriousness of COVID-19 subsequently altered participants' susceptibility to either fear-arousing or fear-suppressing COVID-19 misinformation in a belief-confirming manner. It is discussed how news media shape the public's reality perception amid the global crisis.

A practical approach to the genomics of kidney disorders.

Rapid technological advances in genomic testing continue to increase our understanding of the genetic basis of a wide range of kidney disorders. Establishing a molecular diagnosis benefits the individual by bringing an end to what is often a protracted diagnostic odyssey, facilitates accurate reproductive counselling for families and, in the future, is likely to lead to the delivery of more targeted management and surveillance regimens. The selection of the most appropriate testing modality requires an understanding both of the technologies available and of the genetic architecture and heterogeneity of kidney disease. Whilst we are witnessing a far greater diagnostic yield with broader genetic testing, such approaches invariably generate variants of uncertain significance and secondary incidental findings, which are not only difficult to interpret but present ethical challenges with reporting and feeding back to patients and their families. Here, we review the spectrum of nephrogenetic disorders, consider the optimal approach to genetic testing, explore the clinical utility of obtaining a molecular diagnosis, reflect on the challenges of variant interpretation and look to the future of this dynamic field.

Attitudes and training needs of oncologists and surgeons in mainstreaming breast cancer genetic counseling in a low-to-middle income Asian country.

With the advent of poly-ADP-ribose polymerase inhibitor (PARPi) therapies, the focus of genetic testing for breast, ovarian, and other cancers has shifted from risk management to treatment decision-making in high-resource settings. Due to the shortage of genetic counselors worldwide, alternative ways of delivering genetic counseling have been explored, including training nongenetics healthcare professionals (NGHPs) to provide genetic counseling. However, little is known about the feasibility of adopting such models in healthcare settings with insufficient specialists, where population health literacy is low and where access to new therapies may be limited. In this study, we evaluated the attitudes, considerations, and self-efficacy of oncologists, breast surgeons, and general surgeons in mainstreaming breast cancer genetic counseling in Malaysia, a middle-income Asian country with a universal healthcare system. We developed a 32-item survey via a modified Delphi method, which was then distributed via a purposive and network sampling approach. While 77% of respondents expressed interest in providing breast cancer genetic counseling, 85% preferred to refer patients directly to genetic services for genetic counseling and testing. The main considerations for mainstreaming were the cost of genetic testing and PARPi therapy, as well as the availability of support from genetics professionals. Respondents reported a lack of confidence in communicating genetic risk, particularly to patients with poor health literacy, and in the clinical management of patients with variants of uncertain significance. Our results highlight the urgent need to train more NGHPs in providing genetic counseling and testing in low-to-middle income countries, and suggest that the mainstay for genetic counseling in this setting may be for risk management rather than access to PARPi therapy.

Mainstreaming genomics: training experience of hospital medical officers at the Royal Melbourne Hospital.

The rapid evolution and wide applicability of genomic testing means that medical practitioners outside the field are not appropriately skilled to understand the utility of genomics for their patients. Rotating junior doctors through genomic medicine provides them with the hands-on experience necessary to understand the complexities in this field. In this study, we analysed the training experience of 12 hospital medical officers who rotated through genomic medicine at the Royal Melbourne Hospital. Here, we demonstrate that immersion in clinical genomics aids in mainstreaming genomics knowledge.

The Health Inequalities Assessment Toolkit: supporting integration of equity into applied health research.

BACKGROUND: Despite insistent calls for more and better evidence to inform action to reduce health inequities, applied health research sensitive to these inequalities is rare. Recognising this problem, the Collaboration for Leadership in Applied Research and Care in the North West Coast (England) developed the Health Inequalities Assessment Toolkit (HIAT) to support those involved in health research to integrate equity into their work. OBJECTIVE: This paper reports on an evaluation of the extent to which HIAT enhances the equity focus of the work of users. METHODS: The evaluation used semi-structured interviews, focus groups and workshops (n = 131 respondents including Public Advisers, university, NHS and local government partners). Routine data included HIAT feedback forms. FINDINGS: HIAT can help to strengthen the equity focus of applied health research by: increasing understanding of how socioeconomic inequities impact on health; building capacity for integrating equity into all aspects of research, implementation and capacity building; stimulating thinking on action to address local structural drivers of health inequalities; and increasing understanding of the positive contribution public involvement can make to research. CONCLUSION: If we are to advance health equity goals delivering research and training needs to be combined with political commitment to create more equal societies.

From fringe to centre-stage: experiences of mainstreaming health equity in a health research collaboration.

BACKGROUND: Action to address the structural determinants of health inequalities is prioritized in high-level initiatives such as the United Nations Sustainable Development Goals and many national health strategies. Yet, the focus of much local policy and practice is on behaviour change. Research shows that whilst lifestyle approaches can improve population health, at best they fail to reduce health inequalities because they fail to address upstream structural determinants of behaviour and health outcomes. In health research, most efforts have been directed at three streams of work: understanding causal pathways; evaluating the equity impact of national policy; and developing and evaluating lifestyle/behavioural approaches to health improvement. As a result, there is a dearth of research on effective interventions to reduce health inequalities that can be developed and implemented at a local level. OBJECTIVE: To describe an initiative that aimed to mainstream a focus on health equity in a large-scale research collaboration in the United Kingdom and to assess the impact on organizational culture, research processes and individual research practice. METHODS: The study used multiple qualitative methods including semi-structured interviews, focus groups and workshops (n = 131 respondents including Public Advisers, university, National Health Service (NHS), and local and document review. RESULTS: utilizing Extended Normalization Process Theory (ENPT) and gender mainstreaming theory, the evaluation illuminated (i) the processes developed by Collaboration for Leadership in Applied Health Research and Care North West Coast to integrate ways of thinking and acting to tackle the upstream social determinants of health inequities (i.e. to mainstream a health equity focus) and (ii) the factors that promoted or frustrated these efforts. CONCLUSIONS: Findings highlight the role of contextual factors and processes aimed at developing and implementing a robust strategy for mainstreaming health equity as building blocks for transformative change in applied health research.

Medical teachers' opinions about students with neurodevelopmental disorders and their management.

BACKGROUND: Some students have neurodevelopmental disorders that might affect their academic and professional careers if they are not identified and addressed by specific pedagogic adaptations. The objective of this work was to describe medical teachers' opinions of students with neurodevelopmental disorders and their management of these students. METHODS: An anonymous cross-sectional electronic survey was performed to describe medical teachers' opinions about the impact of neurodevelopmental disorders on the student's life and on the medical teachers' management. aThe survey was created, including visual analogic scales and free text, to assess teachers' opinions from identification and assessment of neurodevelopemental burden on students and teachers, to their own knowledge about neurodevelopemental disorders and the specific pedagogic management available. The survey was sent to 175 medical teachers in 2019, of whom 67 responded. Quantitative descriptive statistics and qualitative analysis of free text were reported. RESULTS: Many medical teachers report having encountered students who might have had neurodevelopmental disorders (dyspraxia 33%; dyslexia 46%; autism spectrum disorders 68%; attention deficit hyperactivity disorders 75%). Impact on students and on teachers was considered as important (mean VAS score for impact over 60/100 for all syndromes except for dyspraxia). Medical teachers' self-reported knowledge about neurodevelopmental disorders (mean VAS score 43.9/100) and available pedagogical adaptations (mean VAS score 19.0/100) was limited. The teachers were concerned about ethical issues (mean VAS score 72.2/100) but were interested in receiving specialized training (mean VAS score 64.4/100). CONCLUSION: Medical teachers feel unprepared to manage students with neurodevelopmental disorders. They would be interested in specific training and procedures about the pedagogic management of these students.

[Gender equality and health equity: strategic lessons from country experiences of gender mainstreaming in healthIgualdade de gênero e equidade em saúde: lições estratégicas de experiências de país na integração do gênero na saúde]. / Igualdad de género y equidad en salud: lecciones estratégicas de las experiencias de los países en la incorporación de la perspectiva de género en la salud.

OBJECTIVES: To analyze progress in organizational structures, mechanisms, strategies, and enabling factors and barriers towards gender mainstreaming (GM) in health in Guatemala, Guyana, and Peru, given GM's role in addressing gender inequalities in health as a key structural driver of health equity. METHODS: Data was obtained through a grey literature review of laws, policies, and/or program documents and semi-structured qualitative interviews with 37 informants. Analysis was based on a theoretical framework including 7 categories considered essential to advance GM in the health sector. RESULTS: Despite significant efforts and accumulated experiences of GM in health, structural barriers include: wider societal challenges of transforming gender unequal power relations; health system complexity combined with the low technical, political, and financial capacity of institutional structures tasked with GM; and limited coordination with (often weak) National Women's Machineries (NWMs). In some contexts, barriers are compounded by limited understanding of basic concepts underlying GM (at times exacerbated by misunderstandings related to intersectionality and/or engagement with men) and the absence of indicators to measure GM's concrete results and impact. CONCLUSIONS: Successful GM requires a more strategic and transformational agenda, developed and implemented in coordination with NWMs and civil society and with reference to external bodies (e.g. Committee on the Elimination of Discrimination against Women) to go beyond process, with clearer distinction between gender sensitivity and gender transformation, and definition of expected results and indicators to measure advances. These then could be better documented and systematized, enabling GM to be more broadly understood and operationalized as a concrete instrument towards health equity.

OBJETIVOS: Analisar o progresso nas estruturas organizacionais, mecanismos, estratégias, e fatores habilitadores e barreiras para a integração do gênero (IG) na saúde na Guatemala, na Guiana e no Peru, dado o papel da IG na abordagem das desigualdades de gênero na saúde como um dos principais impulsionadores estruturais da equidade em saúde. MÉTODOS: Os dados foram obtidos por meio de uma análise das leis, políticas e/ou documentos de programa e entrevistas qualitativas semi-estruturadas junto a 37 informantes, extraídos da literatura cinza. A análise foi efetuada com base em uma estrutura teórica que incluiu 7 categorias consideradas essenciais para promover a IG no setor da saúde. RESULTADOS: Apesar dos esforços significativos e das experiências acumuladas na IG na saúde, as barreiras estruturais incluem: os desafios sociais mais amplos de transformar relacionamentos desiguais de poder; a complexidade dos sistemas de saúde associada à baixa capacidade técnica, política e financeira das instituições encarregadas pela IG; e a coordenação limitada (e muitas vezes fraca) com as Maquinarias Nacionais de Mulheres (NWM, na sigla em inglês). Em alguns contextos, as barreiras são exacerbadas pela compreensão limitada de conceitos básicos nas bases da IG (às vezes agravadas por mal entendidos relacionados à intersecção com homens e/ou o envolvimento deles); e a ausência de indicadores para medir resultados concretos da IG e seu impacto. CONCLUSÕES: Para que a IG ocorra de fato, é necessária uma pauta mais estratégica e transformadora, elaborada e implementada em coordenação com as NWM e a sociedade civil, e fazendo referência a organismos externos (por exemplo, Comitê sobre a Eliminação de todas as Formas de Discriminação contra a Mulher) para que a integração inclua não só o processo, mas que forneça, além disso, uma diferenciação mais clara entre a sensibilidade às questões de gênero e a transformação das relações de gênero, e defina os resultados esperados e os indicadores para medir os avanços. A partir de então, elas poderiam ser melhor documentadas e sistematizadas, permitindo um melhor entendimento sobre a IG e sua operacionalização como instrumento concreto rumo à equidade na saúde.

Mainstreaming genetics and genomics: a systematic review of the barriers and facilitators for nurses and physicians in secondary and tertiary care.

PURPOSE: Genetic and genomic health information increasingly informs routine clinical care and treatment. This systematic review aimed to identify the barriers and facilitators to integrating genetics and genomics into nurses' and physicians' usual practice (mainstreaming). METHODS: A search of MEDLINE, EMBASE, CINAHL, and PsycINFO generated 7873 articles, of which 48 were included. Using narrative synthesis, barriers and facilitators were mapped to the Theoretical Domains Framework (TDF). RESULTS: Barriers were limitations to genetics knowledge and skill, low confidence initiating genetics discussions, lack of resources and guidelines, and concerns about discrimination and psychological harm. Facilitators were positive attitudes toward genetics, willingness to participate in discussions upon patient initiation, and intention to engage in genetics education. CONCLUSION: Nurses and physicians are largely underprepared to integrate genetic and genomic health information into routine clinical care. Ethical, legal, and psychological concerns surrounding genetic information can lead to avoidance of genetics discussions. The knowledge-practice gap could limit patients' and families' access to vital genetic information. Building the capacity of the current and next generation of nurses and physicians to integrate genetics and genomics into usual clinical practice is essential if opportunities afforded by precision medicine are to be fully realized.

How can Australia integrate routine genetic sequencing in oncology: a qualitative study through an implementation science lens.

PURPOSE: This study sought to determine genetics and oncology specialists' views of integrating BRCA1 and BRCA2 testing in epithelial ovarian and breast cancer into routine practice. METHODS: Qualitative interviews were designed using the Consolidated Framework for Implementation Research. Questions included experiences or views of the BRCA testing processes, implementation needs of oncology health professionals, perceived challenges, and future ideas for interventions to integrate genetic testing into oncology. RESULTS: Twenty-two participants were interviewed from twelve health organizations and four themes were identified: (1) embracing the shift to mainstream genetic testing, with the majority of participants viewing BRCA testing as clinically useful and routine use important for maintaining a patient centered process; (2) the need for communication networks and role delineation to integrate routine genetic testing; (3) factors that influence sustaining routine genetic testing, including ongoing training, resources and funding, real-world adaptation, system complexity, and champions; and (4) variation in system interventions for integrating routine genetic testing align to organizational context. CONCLUSION: Findings illustrate the need for integrating genetic testing into routine oncology, and that adaptation of interventions and processes is essential to sustain a feasible model. An understanding of individual and organizational implementation factors will help to prepare for future integration of routine genetic testing in other cancers.

The development and evaluation of a nationwide training program for oncology health professionals in the provision of genetic testing for ovarian cancer patients.

BACKGROUND: BRCA1/2 mutation status has increasing relevance for ovarian cancer treatments, making traditional coordination of genetic testing by genetic services unsustainable. Consequently alternative models of genetic testing have been developed to improve testing at the initial diagnosis for all eligible women. METHODS: A training module to enable mainstreamed genetic testing by oncology healthcare professionals was developed by genetic health professionals. Oncology healthcare professionals completed questionnaires before and 12 months post-training to assess perceived skills, competence and barriers to their coordinating genetic testing for women with high-grade non-mucinous epithelial ovarian cancer. Genetic health professionals were surveyed 12 months post-training to assess perceived barriers to implementation of mainstreaming. RESULTS: 185 oncology healthcare professionals were trained in 42 workshops at 35 Australasian hospitals. Of the 273 tests ordered by oncology healthcare professionals post-training, 241 (93.1%) met national testing guidelines. The number of tests ordered by genetic health professionals reduced significantly (z = 45.0, p = 0.008). Oncology healthcare professionals' perceived barriers to mainstreamed testing decreased from baseline to follow-up (t = 2.39, p = 0.023), particularly perceived skills, knowledge and attitudes. However, only 58% reported either 'always' or 'nearly always' having ordered BRCA testing for eligible patients at 12 months, suggesting oncology healthcare professionals' perceived barriers were not systematically addressed through training. CONCLUSIONS: Oncology healthcare professionals have demonstrated a willingness to be involved in the provision of genetic testing in a mainstreaming model. If oncology services are to hold responsibility for coordinating genetic testing, their readiness will require understanding of barriers not addressed by training alone to inform future intervention design.

Mainstreamed genetic testing for women with ovarian cancer: first-year experience.

BACKGROUND: Ovarian cancer is the fifth most common cause of cancer death for women in the UK. Up to 18% of cases can be attributed to germline mutations in BRCA1 and BRCA2genes. Identifying patients who carry a BRCA mutation provides important information about potential response to treatment and eligibility for therapies such as poly ADP ribose polymerase (PARP) inhibitors. Implementation of systematic genetic testing of patients with ovarian cancer via oncology clinics (mainstreamed genetic testing, MGT) is increasing. METHODS AND RESULTS: This service evaluation reports on the first year of MGT at a tertiary oncology centre in London, UK. In total, 122 patients with high-grade non-mucinous ovarian cancer underwent BRCA germline testing via MGT. Eighteen patients (14.8%) were found to carry a deleterious BRCA1/BRCA2 mutation. Four BRCA carriers did not meet previous criteria for genetic testing and would have been missed. Six BRCA carriers accessed PARP inhibitors post-MGT. Only 22% of patients with a variant of unknown significance (VUS) were referred to clinical genetics services. CONCLUSIONS: MGT appears to be a feasible way of providing BRCA testing to patients with ovarian cancer. Greater clarity of how oncologists use VUS results is needed, as well as further research on psychosocial implications of MGT for patients with ovarian cancer, which may include somatic testing in the future.