Background A polygenic risk score (PRS) enables personalisation of cancer risk and supporting risk stratification for melanoma, colorectal, breast, and prostate cancers. Including a PRS in a cancer risk assessment can facilitate risk-appropriate cancer screening by incorporating an individual's age, sex, family history, and genomic test results. GPs are the likely healthcare professionals to order PRS tests and deliver results to patients within existing preventative health models. Aim To elucidate GPs' perspectives on the use of PRSs to tailor cancer screening in the Australian primary care context. Design & setting A qualitative study undertaken in Victoria, Australia with GPs involved in a series of studies and clinical trials evaluating PRS. Method Thirty GPs were interviewed; they were either PRS naive or had experience of using PRSs in a research context. Participants had a broad spectrum of clinical experience and knowledge of genomics, reflecting the spectrum of experience and knowledge of GPs in Victoria, Australia. Inductive and d eductive thematic analysis was conducted and aligned to the Consolidated Framework for Implementation Research. Results Common themes identified were: general practice is the appropriate setting for PRS-based approaches, personalised approaches to cancer risk can prompt discussions about positive lifestyle changes, and tailored risk reports are useful tools for the communication of complex health information. Barriers identified by GPs included: time constraints on the delivery of preventative health care, education requirements to upskill GPs in genomics, possible psychosocial harms to patients identified as being at increased risk, life-insurance implications, and added pressure on an already struggling health system. Conclusion These findings provide insight into the requirements for the implementation of PRSs in primary care, from the perspective of GPs.

Background: Germline genetic testing is an increasingly important component of treatment decision-making for clinicians and patients with breast cancer. To address increased demand and expedite access to genetic testing for these patients, the Parkville Familial Cancer Centre (PFCC) in Victoria, Australia, implemented a breast mainstream genetic testing program. The program educates and supports breast cancer specialists to provide eligible patients with pre-test information, gain consent, and arrange genetic testing during their routine cancer appointments. This study aimed to explore breast cancer specialists' experiences and opinions of the education program and of facilitating mainstream genetic testing for their patients. Methods: Specialists who had attended the mainstream genetic testing education were invited to complete an online survey about the training provided through the education program and their experience of deploying mainstream genetic testing in their practice. Descriptive statistics were compiled, and content analysis used for open text responses. Results: Forty-five breast cancer specialists (breast surgeons, medical oncologists, radiation oncologists and breast care nurses) responded (45% response rate). Most respondents had discussed (87%) and consented (80%) patients for mainstream genetic testing. Most specialists (81%) rated their confidence levels as high or very high for consenting patients to mainstream genetic testing. The majority (89%) indicated that they believed mainstream genetic testing should be part of their role and felt well supported by the PFCC (90%). Conclusion: Breast cancer specialists used the education they received in the mainstream education program and were supported to deliver mainstream breast cancer genetic testing to their patients.

BACKGROUND:Risk-based breast cancer screening would be a dramatic shift from the current one-size-fits-all model to a tailored approach where screening modality and frequency is directed by individual risk. This project assesses what key stakeholders, defined as those holding managerial and decision-making roles within BreastScreen, consider the issues are with implementing a risk-based approach to screening. METHODS:A qualitative approach was undertaken, recruiting participants through professional networks with interviews guided by the Consolidated Framework of Implementation Research (CFIR). Participants were key stakeholders defined as those managing, overseeing and influencing Breast Screen throughout Australia. Data were deductively coded against a CFIR-informed codebook, followed by content analysis per CFIR domain. RESULTS:Twenty interviews were conducted with 21 participants. 144 initial codes consolidated into 17 final themes. Key stakeholders are supportive and optimistic about risk-based screening in principle; however several issues exist, including knowledge gaps precluding support of evidence-based implementation. Concerns about worsening inequities within screening, cost and communication with clients are major issues key stakeholders consider important to address in the planning and implementing a change to the program. CONCLUSIONS:Key stakeholders in Australia were overwhelmingly enthusiastic about the benefits of a risk-based approach however there are concerns about risk assessment utility, cost and the potential risk to equity in the program. Systematic assessment of these concerns will be required to facilitate successful change to the well-established breast screening program in Australia should risk-stratification be undertaken.

BACKGROUND:Rapid autopsy offers a tantalising opportunity to better characterise metastatic disease and determine how malignancies evade treatment. The CASCADE (CAncer tiSsue Collection After DEath) rapid autopsy program at the Peter MacCallum Cancer Centre, established in 2012, has conducted more than 100 autopsies. The experiences of clinicians and researchers who conduct this program can offer insight into how a unique program can be conducted sensitively and how their involvement impacts them personally and professionally. PURPOSE:To explore experiences of the clinicians and researchers involved in the CASCADE cancer rapid autopsy program. MATERIALS AND METHODS:A qualitative approach employing semi-structured interviews was used to collect data from clinicians and researchers working at the Peter MacCallum Cancer Centre. Inductive thematic analysis with team-based codebook development was used to generate findings. RESULTS:Participants (N = 20) described the benefits and burdens of involvement in a cancer rapid autopsy program, including strategies used to 'find comfort in discomfort'. Offering participation in CASCADE enhanced patient-clinician rapport. The goals of the CASCADE program helped participants overcome confronting experiences in the autopsy room and use of autopsy-derived tissue in the laboratory. Peer-support is essential to avoid burnout. CONCLUSION:The benefits outweighed the burdens of delivering a cancer rapid autopsy program, however, it is important that staff are well supported in their roles.

Background and Objective Consumer engagement improves research quality and relevance but can be difficult to implement. This study aimed to explore the motivations and understand the barriers, if any, experienced by consumers before and when partnering with cancer research teams. Methods Semi-structured interviews were conducted with consumers and the results analysed thematically. Two groups were recruited: consumers who were members of the consumer registry and patients who did not have previous experience of being a consumer in a researcher partnership. Results Twenty-one interviews were conducted with a total of 22 participants aged between 26 and 74 years. Consumers motivation was driven by altruism to help others and personal benefits. Barriers to beginning and maintaining consumer engagement included consumers’ perceptions of being appreciated by researchers and meaningful communication between researchers and consumers. Conclusions Australian policy has made important steps towards consumer engagement in research. This study showed that demonstrating an appreciation for consumers and effective communication are key areas to consider when designing implementation strategies of these policies in the cancer research space in the future.

Abstract Background Physical, affective and behavioural symptoms associated with the menstrual cycle are commonplace. Adolescents with problematic symptoms have reported a negative impact on school attendance, behaviour and participation in physical activity. In the United Kingdom, evidence suggests that menstrual health education delivered by teachers focusses on menstrual cycle biology as opposed to management of menstruation and menstrual cycle related symptoms. Through obtaining the pupil voice, this study aimed to understand young people’s perceptions and experiences of menstrual education in schools and their experiences of menstruating whilst at school, including within Physical Education. Methods To address the aims, a qualitative descriptive study was conducted. Nine focus groups with female pupils (n = 48; ages 10–15 years) were completed across six school locations in England and Wales, including primary and secondary schools. A range of elements relating to the menstrual cycle, education at school and PE were discussed by pupils. Results Four main themes were developed (a) Education preferences, (b) Period positive environments, (c) Personal experiences and (d) Impact on school. Similarities were reflected across focus groups in terms of current (lacking) education, lesson style and preferences, comfort of conversations, lack of school support and impact on school and PE. Conclusion The findings highlight the lack of menstrual education received and subsequent impact of menstruation and menstrual-related symptoms in school and PE. The abundance of information requested by pupils highlights the deficit in understanding about how to manage periods in school and remain engaged in physical activity. Schools can utilise information from the current study to; create period positive environments; consider lesson content and format; and explore how to support girls to stay physically active in PE.

IntroductionThe etiology of psychiatric disorders is multifactorial including genomic and environmental risk factors. Psychiatric genetic counseling is an emerging field that may promote processes of adaptation to, and the management of, psychiatric disorders. Many countries lack dedicated services leading to a gap in care. This scoping review will inform the development of psychiatric genetics-based educational resources.ObjectivesTo explore individuals with a psychiatric disorder and their relatives’ attitudes and beliefs toward psychiatric genetics, genetic counseling, and genetics-based education. To evaluate how best to convey education to consumers.MethodDatabase literature searches occurred on May 2nd, 2023, using PubMed, Medline, and PsycINFO. Reviews, letters to the editor, case reports, and publications before 2003 were excluded.ResultsTwenty-four papers met the inclusion criteria. Results suggest individuals with a psychiatric disorder and their relatives tended to overestimate risk, and express concern about reproductive decision- making. Genetic counseling and educational resources were perceived to be useful and empowering.ConclusionAffected individuals and relatives are interested in gaining greater insight into their own and/or their relative’s psychiatric disorder, management strategies, and understanding familial risks.Practice ImplicationsThe evidence from this review may inform the development of genetics-based educational resources or guide future research.

Background Genetic counselling aims to identify, and address, patient needs while facilitating informed decision-making about genetic testing and promoting empowerment and adaptation to genetic information. Increasing demand for cancer genetic testing and genetic counsellor workforce capacity limitations may impact the quality of genetic counselling provided. The use of a validated genetic-specific screening tool, the Genetic Psychosocial Risk Instrument (GPRI), may facilitate patient-centred genetic counselling. The aim of this study is to assess the effectiveness and implementation of using the GPRI in improving patient outcomes after genetic counselling and testing for an inherited cancer predisposition. Methods The PersOnalising gEneTIc Counselling (POETIC) trial is a hybrid type 2 effectiveness-implementation trial using a randomised control trial to assess the effectiveness of the GPRI in improving patient empowerment (primary outcome), while also assessing implementation from the perspective of clinicians and the healthcare service. Patients referred for a cancer risk assessment to the conjoint clinical genetics service of two metropolitan hospitals in Victoria, Australia, who meet the eligibility criteria and consent to POETIC will be randomised to the usual care or intervention group. Those in the intervention group will complete the GPRI prior to their appointment with the screening results available for the clinicians’ use during the appointment. Appointment audio recordings, clinician-reported information about the appointment, patient-reported outcome measures, and clinical data will be used to examine the effectiveness of using the GPRI. Appointment audio recordings, health economic information, and structured interviews will be used to examine the implementation of the GPRI. Discussion The POETIC trial takes a pragmatic approach by deploying the GPRI as an intervention in the routine clinical practice of a cancer-specific clinical genetics service that is staffed by a multidisciplinary team of genetics and oncology clinicians. Therefore, the effectiveness and implementation evidence generated from this real-world health service setting aims to optimise the relevance of the outcomes of this trial to the practice of genetic counselling while enhancing the operationalisation of the screening tool in routine practice. Trial registration Australian New Zealand Clinical Trials Registry registration number 12621001582842p. Date of registration: 19th November 2021.

ObjectiveWomen at high risk of ovarian cancer are commonly advised to undergo risk-reducing bilateral salpingo-oophorectomy (BSO) prior to natural menopause. Cognitive symptoms during natural menopause transition are frequently reported; however, very few studies have examined cognitive changes following surgical menopause. To address this gap, we explored the cognitive experiences of women within 24 months post BSO.MethodsThis observational cross-sectional sub-study is part of a larger project, the Early Menopause and Cognition Study (EM-COG). We investigated perceived cognitive experiences in Australian women (n = 16) who underwent risk-reducing BSO using qualitative interviews. Thematic analysis was undertaken to identify key themes.ResultsFifteen out of 16 participants (93.75%) reported changes to cognition within 24 months post BSO. The key cognitive symptoms reported were brain fog, memory and retrieval difficulties, slower processing speed as well as attention difficulties. Five participants (31.3%) experienced negative mood symptoms post BSO.ConclusionFindings from this study suggest that women experience subjective cognitive changes within 24 months post BSO. This period could be a vulnerable time for women's cognitive health. While these findings need to be confirmed by a large prospective study, our research indicates that psychoeducation and awareness will be helpful in managing cognitive symptoms after surgical menopause.

Internationally, population breast cancer screening is moving towards a risk-stratified approach and requires engagement and acceptance from current and future screening clients. A decision aid ( www.defineau.org ) was developed based on women's views, values, and knowledge regarding risk-stratified breast cancer screening. This study aims to evaluate the impact of the decision aid on women's knowledge, risk perception, acceptance of risk assessment and change of screening frequency, and decision-making. Here we report the results of a pre and post-survey in which women who are clients of BreastScreen Victoria were invited to complete an online questionnaire before and after viewing the decision aid. 3200 potential participants were invited, 242 responded with 127 participants completing both surveys. After reviewing the decision aid there was a significant change in knowledge, acceptance of risk-stratified breast cancer screening and of decreased frequency screening for lower risk. High levels of acceptance of risk stratification, genetic testing and broad support for tailored screening persisted pre and post review. The DEFINE decision aid has a positive impact on acceptance of lower frequency screening, a major barrier to the success of a risk-stratified program and may contribute to facilitating change to the population breast screening program in Australia.

Purpose This study explored the experiences of young people with hereditary diffuse gastric cancer (HDGC), an inherited cancer predisposition syndrome, as they navigate becoming and being a parent. Design We used interpretive description and conducted semi-structured interviews with 13 young Australians (18-39 years) with a CDH1 pathogenic variant (PV). Data were analyzed using team-based, reflexive thematic analysis. Findings Participants' reproductive decisions centered on the perceived manageability of HDGC, namely via gastrectomy, and timing of their genetic testing. Participants yet to have children and those with challenging gastrectomy experiences favored using reproductive technologies to prevent passing on their PV. Parents who had children before genetic testing described complicated decisions about having more children. Gastrectomy was considered a parental responsibility but recovery diminished parenting abilities. Conclusion Young people with HDGC face unique challenges navigating reproductive decision-making and parenting with gastrectomy. Findings lend credence to calls for longitudinal, developmentally sensitive genetic counseling services.

Background: Polygenic risk scores (PRS) for breast and ovarian cancer risk are increasingly available to the public through clinical research and commercial genetic testing companies. Healthcare providers frequently report limited knowledge and confidence using PRS, representing a significant barrier to evaluation and uptake of this technology. We aimed to develop and evaluate the impact of a novel online educational program on genetic healthcare providers (GHP) attitudes, confidence and knowledge using PRS for breast and ovarian cancer risk. Methods: The educational program was informed by adult learning theory and the Kolb experiential learning model. The program was comprised of two phases: i) an online module covering the theoretical aspects of PRS and ii) a facilitated virtual workshop with pre-recorded role plays and case discussions. A pre-and post-education survey was administered to evaluate the impact of the educational program on GHP attitudes, confidence, knowledge, and preparedness for using PRS. Eligible participants were GHP working in one of 12 familial cancer in Australia registered to recruit patients for a breast and ovarian cancer PRS clinical trial and completed the education program. Results: 124 GHP completed the PRS education, of whom 80 (64%) and 67 (41%) completed the pre-and post-evaluation survey, respectively. Pre-education, GHP reported limited experience, confidence and preparedness using PRS. GHP frequently recognized potential benefits to PRS, most commonly that this information could improve access to tailored screening (rated as beneficial/very beneficial by 92% of GHP pre-education). Completion of the education program was associated with significantly improved attitudes (p=<0.001), confidence (p=<0.001), knowledge of (p=<0.001) and preparedness (p=<0.001) using PRS. Most GHP indicated the education program entirely met their learning needs (73%) and felt the content was entirely relevant to their clinical practice (88%). GHP identified further PRS implementation issues including limited funding models, diversity issues, need for clinical guidelines and ongoing updates given the rapid pace of PRS research. Conclusions: Delivery of a novel education program can improve GHP attitudes, confidence, knowledge, and preparedness using PRS. Careful consideration of healthcare providers learning needs is required to support PRS research and clinical translation.