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Genomics is increasingly being incorporated into models of care for cancer. Understanding the ethical, legal and social implications (ELSI) in this domain is important for successful and equitable implementation. We aimed to identify ELSI scholarship specific to cancer control and genomics. To do this, we undertook a scoping literature review and narrative synthesis, identifying 46 articles that met inclusion criteria. Eighteen ELSI themes were developed, including: (i) Equity of access, which included structural barriers to testing and research, access to preventative and follow-up care, and engagement with health systems; (ii) family considerations, such as an ethical obligation to disseminate relevant genomic information to at-risk family members, (iii) legal considerations, including privacy and confidentiality, genetic discrimination, and the prospective duty to reclassify variants; and (iv) optimizing consent processes in clinical care and research. Gaps in the literature were identified with respect to equity for people living in rural or remote areas, and how to provide ethical care within culturally, linguistically and ethnically diverse communities; including First Nations peoples. Our findings suggest a need for a multidisciplinary approach to examining ELSI in cancer genomics beyond initial test indication and within the broader context of the mainstreaming of genomics in health care., (Copyright © 2024. Published by Elsevier Inc.)

This scoping review aims to systematically gather evidence from personalized cancer-screening studies across various cancers, summarize key components and outcomes, and provide implications for a future personalized melanoma-screening strategy. Peer-reviewed articles and clinical trial databases were searched for, with restrictions on language and publication date. Sixteen distinct studies were identified and included in this review. The studies' results were synthesized according to key components, including risk assessment, risk thresholds, screening pathways, and primary outcomes of interest. Studies most frequently reported about breast cancers ( n = 7), followed by colorectal ( n = 5), prostate ( n = 2), lung ( n = 1), and ovarian cancers ( n = 1). The identified screening programs were evaluated predominately in Europe ( n = 6) and North America ( n = 4). The studies employed multiple different risk assessment tools, screening schedules, and outcome measurements, with few consistent approaches identified across the studies. The benefit-harm assessment of each proposed personalized screening program indicated that the majority were feasible and effective. The establishment of a personalized screening program is complex, but results of the reviewed studies indicate that it is feasible, can improve participation rates, and screening outcomes. While the review primarily examines screening programs for cancers other than melanoma, the insights can be used to inform the development of a personalized melanoma screening strategy.

Population-wide skin cancer screening is not currently recommended in most countries. Instead, most clinical guidelines incorporate risk-based recommendations for skin checks, despite limited evidence around implementation and adherence to recommendations in practice. We aimed to determine adherence to personal risk-tailored melanoma skin check schedules and explore reasons influencing adherence. Patients (with/without a previous melanoma) attending tertiary dermatology clinics at the Melanoma Institute Australia, Sydney, Australia, were invited to complete a melanoma risk assessment questionnaire via iPad and provided with personal risk information alongside a risk-tailored skin check schedule. Data were collected from the risk tool, clinician-recorded data on schedule deviations, and appointment booking system. Post-consultation, we conducted semi-structured interviews with patients and clinic staff. We used a convergent segregated mixed methods approach for analysis. Interviews were audio recorded, transcribed and data were analysed thematically. Participant data were analysed from clinic records (n = 247) and interviews (n = 29 patients, 11 staff). Overall, there was 62% adherence to risk-tailored skin check schedules. In cases of non-adherence, skin checks tended to occur more frequently than recommended. Decisions to deviate were similarly influenced by patients (44%) and clinicians (56%). Themes driving non-adherence among patients included anxiety and wanting autonomy around decision-making, and among clinicians included concerns around specific lesions and risk estimate accuracy. There was moderate adherence to a clinical service program of personal risk-tailored skin check recommendations. Further adherence may be gained by incorporating strategies to identify and assist patients with high levels of anxiety and supporting clinicians to communicate risk-based recommendations with patients., (© 2024 The Author(s). International Journal of Cancer published by John Wiley & Sons Ltd on behalf of UICC.)

Purpose: Genetic and genomic testing can provide valuable information on individuals' risk of chronic diseases, presenting an opportunity for risk-tailored disease screening to improve early detection and health outcomes. The acceptability, uptake and effectiveness of such programmes is dependent on public preferences for the programme features. This study aims to conduct a systematic review of discrete choice experiments assessing preferences for genetic/genomic risk-tailored chronic disease screening., Methods: PubMed, Embase, EconLit and Cochrane Library were searched in October 2023 for discrete choice experiment studies assessing preferences for genetic or genomic risk-tailored chronic disease screening. Eligible studies were double screened, extracted and synthesised through descriptive statistics and content analysis of themes. Bias was assessed using an existing quality checklist., Results: Twelve studies were included. Most studies focused on cancer screening (n = 10) and explored preferences for testing of rare, high-risk variants (n = 10), largely within a targeted population (e.g. subgroups with family history of disease). Two studies explored preferences for the use of polygenic risk scores (PRS) at a population level. Twenty-six programme attributes were identified, with most significantly impacting preferences. Survival, test accuracy and screening impact were most frequently reported as most important. Depending on the clinical context and programme attributes and levels, estimated uptake of hypothetical programmes varied from no participation to almost full participation (97%)., Conclusion: The uptake of potential programmes would strongly depend on specific programme features and the disease context. In particular, careful communication of potential survival benefits and likely genetic/genomic test accuracy might encourage uptake of genetic and genomic risk-tailored disease screening programmes. As the majority of the literature focused on high-risk variants and cancer screening, further research is required to understand preferences specific to PRS testing at a population level and targeted genomic testing for different disease contexts., (© 2024. The Author(s).)

Objectives: Skin cancer is highly preventable through primary prevention activities such as avoiding ultraviolet radiation exposure during peak times and regular use of sun protection. General practitioners (GPs) and primary care nurses have key responsibilities in promoting sustained primary prevention behaviour. We aimed to review the evidence on skin cancer primary prevention activities in primary care settings, including evidence on feasibility, effectiveness, barriers and enablers., Study Type: Rapid review and narrative synthesis., Methods: We searched published literature from January 2011 to October 2022 in Embase, Medline, PsychInfo, Scopus, Cochrane Central and CINAHL. The search was limited to skin cancer primary prevention activities within primary care settings, for studies or programs conducted in Australia or countries with comparable health systems. Analysis of barriers and enablers was informed by an implementation science framework., Results: A total of 31 peer-reviewed journal articles were included in the review. We identified four main primary prevention activities: education and training programs for GPs; behavioural counselling on prevention; the use of novel risk assessment tools and provision of risk-tailored prevention strategies; and new technologies to support early detection that have accompanying primary prevention advice. Enablers to delivering skin cancer primary prevention in primary care included pairing preventive activities with early detection activities, and access to patient resources and programs that fit with existing workflows and systems. Barriers included unclear requirements for skin cancer prevention counselling, competing demands within the consultation and limited access to primary care services, especially in regional and remote areas., Conclusions: These findings highlight potential opportunities for improving skin cancer prevention activities in primary care. Ensuring ease of program delivery, integration with early detection and availability of resources such as risk assessment tools are enablers to encourage and increase uptake of primary prevention behaviours in primary care, for both practitioners and patients., Competing Interests: None declared.

Objective: We investigated the association between sun protection behaviours and demographic and melanoma risk characteristics of patients attending Australian melanoma specialist clinics. This may assist in targeting and tailoring melanoma prevention patient education for people at high-risk and specific population subgroups., Methods: A cross-sectional analysis of questionnaire data collected from participants attending the dermatology clinics at two major melanoma centres in Sydney, Australia between February 2021 and September 2023. The primary outcome was Sun Protection Habits (SPH) index (a summary score measured as habitual past month use of sunscreen, hats, sunglasses, a shirt with sleeves that covers the shoulders, limiting midday sun exposure and seeking shade, using a Likert scale). The primary analysis considered the SPH index and its component items scored as continuous., Results: Data from 883 people were analysed. Factors associated with less frequent sun protection behaviours overall included male gender, no personal history of melanoma, lower perceived risk, lower calculated 10-year risk of developing melanoma, and no private health insurance. People aged >61 years reported lower use of sunscreen but higher use of hats and sleeved-shirts compared with people in the younger age group. There was no difference in overall sun protection behaviours according to family history of melanoma, country of birth or by lifetime melanoma risk among people without a personal history of melanoma., Conclusions: These findings highlight the potential for targeting high-risk individuals with less frequent use of sun protection for patient education, public health messaging and ultimately improving sun protection behaviours., (© 2024 The Author(s). Australasian Journal of Dermatology published by John Wiley & Sons Australia, Ltd on behalf of Australasian College of Dermatologists.)

Background: Cancer screening that is tailored to individual risk has the potential to improve health outcomes and reduce screening-related harms, if implemented well. However, successful implementation depends on acceptability, particularly as this approach will require GPs to change their practice., Aim: To explore Australian GPs' views about the acceptability of risk-tailored screening across cancer types and to identify barriers to and facilitators of implementation., Design and Setting: A qualitative study using semi-structured interviews with Australian GPs., Method: Interviews were carried out with GPs and audio-recorded and transcribed. Data were first analysed inductively then deductively using an implementation framework., Results: Participants ( n = 20) found risk-tailored screening to be acceptable in principle, recognising potential benefits in offering enhanced screening to those at highest risk. However, they had significant concerns that changes in screening advice could potentially cause confusion. They also reported that a reduced screening frequency or exclusion from a screening programme for those deemed low risk may not initially be acceptable, especially for common cancers with minimally invasive screening. Other reservations about implementing risk-tailored screening in general practice included a lack of high-quality evidence of benefit, fear of missing the signs or symptoms of a patient's cancer, and inadequate time with patients. While no single preferred approach to professional education was identified, education around communicating screening results and risk stratification was considered important., Conclusion: GPs may not currently be convinced of the net benefits of risk-tailored screening. Development of accessible evidence-based guidelines, professional education, risk calculators, and targeted public messages will increase its feasibility in general practice., (© The Authors.)

Introduction: In Australia, opportunistic screening (occurring as skin checks) for the early detection of melanoma is common, and overdiagnosis is a recognised concern. Risk-tailored cancer screening is an approach to cancer control that aims to provide personalised screening tailored to individual risk. This study aimed to explore the views of key informants in Australia on the acceptability and appropriateness of risk-tailored organised screening for melanoma, and to identify barriers, facilitators and strategies to inform potential future implementation. Acceptability and appropriateness are crucial, as successful implementation will require a change of practice for clinicians and consumers., Methods: This was a qualitative study using semi-structured interviews. Key informants were purposively selected to ensure expertise in melanoma early detection and screening, prioritising senior or executive perspectives. Consumers were expert representatives. Data were analysed deductively using the Tailored Implementation for Chronic Diseases (TICD) checklist., Results: Thirty-six participants were interviewed (10 policy makers; 9 consumers; 10 health professionals; 7 researchers). Key informants perceived risk-tailored screening for melanoma to be acceptable and appropriate in principle. Barriers to implementation included lack of trial data, reluctance for low-risk groups to not screen, variable skill level in general practice, differing views on who to conduct screening tests, confusing public health messaging, and competing health costs. Key facilitators included the perceived opportunity to improve health equity and the potential cost-effectiveness of a risk-tailored screening approach. A range of implementation strategies were identified including strengthening the evidence for cost-effectiveness, engaging stakeholders, developing pathways for people at low risk, evaluating different risk assessment criteria and screening delivery models and targeted public messaging., Conclusion: Key informants were supportive in principle of risk-tailored melanoma screening, highlighting important next steps. Considerations around risk assessment, policy and modelling the costs of current verses future approaches will help inform possible future implementation of risk-tailored population screening for melanoma., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2023 Dunlop et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

Purpose: Evidence indicates that a melanoma prevention program using personalized genomic risk provision and genetic counseling can affect prevention behaviors, including reducing sunburns in adults with no melanoma history. This analysis evaluated its longer-term cost-effectiveness from an Australian health system perspective., Methods: The primary outcome was incremental cost effectiveness ratio (ICER) of genomic risk provision (intervention) compared with standard prevention advice. A decision-analytic Markov model was developed using randomized trial data to simulate lifetime cost-effectiveness. All costs were presented in 2018/19 Australian dollars (AUD). The intervention effect on reduced sunburns was stratified by sex and traditional risk, which was calculated through a validated prediction model. Deterministic and probabilistic sensitivity analyses were undertaken for robustness checks., Results: The per participant cost of intervention was AUD$189. Genomic risk provision targeting high-traditional risk individuals produced an ICER of AUD$35,254 (per quality-adjusted life year gained); sensitivity analyses indicated the intervention would be cost-effective in more than 50% of scenarios. When the intervention was extended to low-traditional risk groups, the ICER was AUD$43,746 with a 45% probability of being cost-effective., Conclusion: Genomic risk provision targeted to high-traditional melanoma risk individuals is likely a cost-effective strategy for reducing sunburns and will likely prevent future melanomas and keratinocyte carcinomas., Competing Interests: Conflict of Interest Alexander M. Menzies has served on advisory boards for BMS, MSD, Novartis, Roche, Pierre-Fabre, and QBiotics., (Copyright © 2023 American College of Medical Genetics and Genomics. Published by Elsevier Inc. All rights reserved.)

Data sharing is essential for promoting scientific discoveries and informed decision-making in clinical practice. In 2013, PhRMA/EFPIA recognised the importance of data sharing and supported initiatives to enhance clinical trial data transparency and promote scientific advancements. However, despite these commitments, recent investigations indicate significant scope for improvements in data sharing by the pharmaceutical industry. Drawing on a decade of literature and policy developments, this article presents perspectives from a multidisciplinary team of researchers, clinicians, and consumers. The focus is on policy and process updates to the PhRMA/EFPIA 2013 data sharing commitments, aiming to enhance the sharing and accessibility of participant-level data, clinical study reports, protocols, statistical analysis plans, lay summaries, and result publications from pharmaceutical industry-sponsored trials. The proposed updates provide clear recommendations regarding which data should be shared, when it should be shared, and under what conditions. The suggested improvements aim to develop a data sharing ecosystem that supports science and patient-centred care. Good data sharing principles require resources, time, and commitment. Notwithstanding these challenges, enhancing data sharing is necessary for efficient resource utilization, increased scientific collaboration, and better decision-making for patients and healthcare professionals., (© 2023. BioMed Central Ltd., part of Springer Nature.)

Objective and importance of study: Risk-stratified approaches to cancer screening aim to provide tailored risk advice to individuals, rather than the mostly one-size-fits-all approach designed for the average person that is currently used in Australia. Stratified cancer screening has the potential to increase the benefits and reduce the harms of screening. Initial risk assessment is a crucial first step for screening programs that use risk stratification. We report findings from a qualitative study exploring the views of the Australian public on how to best deliver risk-stratified cancer screening in the population to help inform future implementation., Study Type: Qualitative interview study., Methods: We conducted semistructured interviews with participants from a previous study, half of whom had received personal genomic risk information and half of whom had not. We asked how and where they would like to see risk-stratified screening delivered and how they felt about different health professionals assessing their cancer risk. Data were analysed thematically., Results: Forty interviews were conducted. The age range of participants was 21-68 years; 58% were female. Themes included: 1) Convenience is a priority; 2) General practice is a good fit for some; 3) Web-based technology is part of the process; and 4) "I would want to know why [I was being stratified]". Similar views were expressed by both groups. Our findings suggest that although health professionals were identified as having an important role, there were mixed preferences for delivery by general practitioners, medical specialists or nurses. Participants were less concerned about who undertook the risk assessment than whether the health professional had the appropriate skill set and availability. Clear communication and evidence of the need for change in screening eligibility and frequency were key factors in the successful delivery of risk-stratified screening., Conclusion: We identified that convenience and good communication, including clear explanations to the public with convincing evidence for change, will enable the successful delivery of risk-stratified cancer screening in the population, including organised and opportunistic screening approaches. Health professional education and upskilling across disciplines will be key facilitators. Engagement and further consultation with primary care and other key stakeholders will be central., Competing Interests: None declared.

The evolution of polygenic scores for use in for disease prevention and control compels the development of guidelines to optimize their effectiveness and promote equitable use. Understanding the motivations and barriers to participation in genomics research can assist in drafting these standards. We investigated these in a community-based randomized controlled trial that examined the health behavioral impact of receiving personalized melanoma genomic risk information. We examined participant responses in a baseline questionnaire and conducted interviews post-trial participation. Motivations differed in two ways: (1) by gender, with those identifying as women placing greater importance on learning about their personal risk or familial risk, and how to reduce risk; and (2) by age in relation to learning about personal risk, and fear of developing melanoma. A barrier to participation was distrust in the handling of genomic data. Our findings provide new insights into the motivations for participating in genomics research and highlight the need to better target population subgroups including younger men, which will aid in tailoring recruitment for future genomic studies.

Personalized polygenic risk information may be used to guide risk-based melanoma prevention and early detection at a population scale, but research on communicating this information is limited. This mixed-methods study aimed to assess the acceptability of a genetic counselor (GC) phone call in communicating polygenic risk information in the Melanoma Genomics Managing Your Risk randomized controlled trial. Participants ( n = 509) received personalized melanoma polygenic risk information, an educational booklet on melanoma prevention, and a GC phone call, which was audio-recorded. Participants completed the Genetic Counseling Satisfaction Survey 1-month after receiving their risk information ( n = 346). A subgroup took part in a qualitative interview post-study completion ( n = 20). Survey data were analyzed descriptively using SPSS, and thematic analysis of the qualitative data was conducted using NVivo 12.0 software. The survey showed a high level of acceptability for the GC phone call (mean satisfaction score overall: 4.3 out of 5, standard deviation (SD): 0.6) with differences according to gender (mean score for women: 4.4, SD: 0.6 vs. men: 4.2, SD: 0.7; p = 0.005), health literacy (lower literacy: 4.1, SD: 0.8; average: 4.3, SD: 0.6; higher: 4.4, SD: 0.6: p = 0.02) and polygenic risk group (low risk: 4.5, SD: 0.5, SD: average: 4.3, SD: 0.7, high: 4.3, SD: 0.7; p = 0.03). During the GC phone calls, the discussion predominately related to the impact of past sun exposure on personal melanoma risk. Together our findings point to the importance of further exploring educational and support needs and preferences for communicating personalized melanoma risk among population subgroups, including diverse literacy levels.

Background: Precision public health is an emergent field that requires transdisciplinary collaborations and leverages innovative approaches to improve population health. These opportunities have inspired a new generation of precision public health researchers. Despite burgeoning interest in precision public health, there are limited opportunities for researchers to convene and continue the momentum of this field., Methods: The Transdisciplinary Conference for Future Leaders in Precision Public Health was the among the first events to bring together international researchers and practitioners to learn, network, and agenda set for the future of the field. The conference took place virtually on October 14 and 15, 2021., Results: The conference spanned two days and featured a keynote address, speakers from public health disciplines who are international leaders in precision-based research, networking opportunities, a poster session, and research agenda setting activities., Conclusion: The conference was a critical first step to creating a shared international conversation about precision public health, especially among early-stage investigators. This allowed attendees to continue building their individual skills and international collaborations to support the growth of the field of precision public health., (© 2022. The Author(s).)

Precision public health is an emerging discipline combining principles and frameworks of precision health with the goal of improving population health. The development of research priorities drawing on the strengths of precision and public health is critical to facilitate the growth of the discipline to improve health outcomes. We held an interactive workshop during a virtual conference bringing together early-career researchers across public health disciplines to identify research priorities in precision public health. The workshop participants discussed and voted to identify three priority areas for future research and capacity building including 1) enhancing equity and access to precision public health research and resources, 2) improving tools and metrics for evaluation and 3) applying principles of implementation science to support sustainable practices. Participants also developed future objectives for achieving each priority. Future efforts by working groups will continue the process of identifying, revising, and advancing critical research priorities to grow the impact of precision public health., Competing Interests: JM was employed by the company GOFORWARD LLC. The remaining 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 © 2022 Roberts, Mader, Turbitt, Smit, Landry, Olstad, Passero and Allen.)

Background: Previous studies suggest that polygenic risk scores (PRSs) may improve melanoma risk stratification. However, there has been limited independent validation of PRS-based risk prediction, particularly assessment of calibration (comparing predicted to observed risks)., Objectives: To evaluate PRS-based melanoma risk prediction in prospective UK and Australian cohorts with European ancestry., Methods: We analysed invasive melanoma incidence in the UK Biobank (UKB; n = 395 647, 1651 cases) and a case-cohort nested within the Melbourne Collaborative Cohort Study (MCCS, Australia; n = 4765, 303 cases). Three PRSs were evaluated: 68 single-nucleotide polymorphisms (SNPs) at 54 loci from a 2020 meta-analysis (PRS68), 50 SNPs significant in the 2020 meta-analysis excluding UKB (PRS50) and 45 SNPs at 21 loci known in 2018 (PRS45). Ten-year melanoma risks were calculated from population-level cancer registry data by age group and sex, with and without PRS adjustment., Results: Predicted absolute melanoma risks based on age and sex alone underestimated melanoma incidence in the UKB [ratio of expected/observed cases: E/O = 0·65, 95% confidence interval (CI) 0·62-0·68] and MCCS (E/O = 0·63, 95% CI 0·56-0·72). For UKB, calibration was improved by PRS adjustment, with PRS50-adjusted risks E/O = 0·91, 95% CI 0·87-0·95. The discriminative ability for PRS68- and PRS50-adjusted absolute risks was higher than for risks based on age and sex alone (Δ area under the curve 0·07-0·10, P < 0·0001), and higher than for PRS45-adjusted risks (Δ area under the curve 0·02-0·04, P < 0·001)., Conclusions: A PRS derived from a larger, more diverse meta-analysis improves risk prediction compared with an earlier PRS, and might help tailor melanoma prevention and early detection strategies to different risk levels. Recalibration of absolute risks may be necessary for application to specific populations., (© 2022 The Authors. British Journal of Dermatology published by John Wiley & Sons Ltd on behalf of British Association of Dermatologists.)

Importance: Patient-led surveillance is a promising new model of follow-up care following excision of localized melanoma., Objective: To determine whether patient-led surveillance in patients with prior localized primary cutaneous melanoma is as safe, feasible, and acceptable as clinician-led surveillance., Design, Setting, and Participants: This was a pilot for a randomized clinical trial at 2 specialist-led clinics in metropolitan Sydney, Australia, and a primary care skin cancer clinic managed by general practitioners in metropolitan Newcastle, Australia. The participants were 100 patients who had been treated for localized melanoma, owned a smartphone, had a partner to assist with skin self-examination (SSE), and had been routinely attending scheduled follow-up visits. The study was conducted from November 1, 2018, to January 17, 2020, with analysis performed from September 1, 2020, to November 15, 2020., Intervention: Participants were randomized (1:1) to 6 months of patient-led surveillance (the intervention comprised usual care plus reminders to perform SSE, patient-performed dermoscopy, teledermatologist assessment, and fast-tracked unscheduled clinic visits) or clinician-led surveillance (the control was usual care)., Main Outcomes and Measures: The primary outcome was the proportion of eligible and contacted patients who were randomized. Secondary outcomes included patient-reported outcomes (eg, SSE knowledge, attitudes, and practices, psychological outcomes, other health care use) and clinical outcomes (eg, clinic visits, skin surgeries, subsequent new primary or recurrent melanoma)., Results: Of 326 patients who were eligible and contacted, 100 (31%) patients (mean [SD] age, 58.7 [12.0] years; 53 [53%] men) were randomized to patient-led (n = 49) or clinician-led (n = 51) surveillance. Data were available on patient-reported outcomes for 66 participants and on clinical outcomes for 100 participants. Compared with clinician-led surveillance, patient-led surveillance was associated with increased SSE frequency (odds ratio [OR], 3.5; 95% CI, 0.9 to 14.0) and thoroughness (OR, 2.2; 95% CI, 0.8 to 5.7), had no detectable adverse effect on psychological outcomes (fear of cancer recurrence subscale score; mean difference, -1.3; 95% CI, -3.1 to 0.5), and increased clinic visits (risk ratio [RR], 1.5; 95% CI, 1.1 to 2.1), skin lesion excisions (RR, 1.1; 95% CI, 0.6 to 2.0), and subsequent melanoma diagnoses and subsequent melanoma diagnoses (risk difference, 10%; 95% CI, -2% to 23%). New primary melanomas and 1 local recurrence were diagnosed in 8 (16%) of the participants in the intervention group, including 5 (10%) ahead of routinely scheduled visits; and in 3 (6%) of the participants in the control group, with none (0%) ahead of routinely scheduled visits (risk difference, 10%; 95% CI, 2% to 19%)., Conclusions and Relevance: This pilot of a randomized clinical trial found that patient-led surveillance after treatment of localized melanoma appears to be safe, feasible, and acceptable. Experiences from this pilot study have prompted improvements to the trial processes for the larger trial of the same intervention., Trial Registration: http://anzctr.org.au Identifier: ACTRN12616001716459.

Ultraviolet radiation (UV) is the main cause of skin cancer, and children are a priority group for reducing UV exposure. We evaluated whether an interactive educational activity using handheld dosimeters improved UV-related knowledge among primary (elementary) school students. We conducted an uncontrolled before-after study among 427 students in grades 3-6 (ages 8-12 years) at five schools in the Greater Sydney region, Australia. Students used UV dosimeters to measure UV exposure, using the UV index scale, at different locations on their school grounds with and without different forms of sun protection, followed by an indoor classroom presentation and discussion. A 10-point anonymous questionnaire was completed by each student before and after the entire session (60-90 min). Before-after responses were compared using a generalised linear mixed model, adjusted for school, grade and gender. Overall, the mean raw scores increased from 6.3 (out of 10) before the intervention to 8.9 after the intervention, and the adjusted difference in scores was 2.6 points (95% confidence interval 2.4-2.8; p < 0.0001). Knowledge improved for all questions, with the greatest improvement for questions related to the UV Index (p < 0.05). The effect of the intervention was similar across different school, grade and gender groups. School and grade had no significant effect on mean survey scores, but girls scored an average 0.2 points higher than boys (95% confidence interval 0.1-0.4; p = 0.01). In conclusion, Australian primary school students had moderate knowledge about UV and sun protection, and knowledge improved significantly after a short interactive educational activity using handheld UV dosimeters., Competing Interests: 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., (© 2021 The Author(s).)

Purpose: We evaluated the impact of personal melanoma genomic risk information on sun-related behaviors and psychological outcomes., Methods: In this parallel group, open, randomized controlled trial, 1,025 Australians of European ancestry without melanoma and aged 18-69 years were recruited via the Medicare database (3% consent). Participants were randomized to the intervention (n = 513; saliva sample for genetic testing, personalized melanoma risk booklet based on a 40-variant polygenic risk score, telephone-based genetic counseling, educational booklet) or control (n = 512; educational booklet). Wrist-worn ultraviolet (UV) radiation dosimeters (10-day wear) and questionnaires were administered at baseline, 1 month postintervention, and 12 months postbaseline., Results: At 12 months, 948 (92%) participants completed dosimetry and 973 (95%) the questionnaire. For the primary outcome, there was no effect of the genomic risk intervention on objectively measured UV exposure at 12 months, irrespective of traditional risk factors. For secondary outcomes at 12 months, the intervention reduced sunburns (risk ratio: 0.72, 95% confidence interval: 0.54-0.96), and increased skin examinations among women. Melanoma-related worry was reduced. There was no overall impact on general psychological distress., Conclusion: Personalized genomic risk information did not influence sun exposure patterns but did improve some skin cancer prevention and early detection behaviors, suggesting it may be useful for precision prevention. There was no evidence of psychological harm., (© 2021. The Author(s).)

Polygenic risk scores (PRS) are becoming increasingly available in clinical practice to evaluate cancer risk. However, little is known about health professionals' knowledge, attitudes, and expectations of PRS. An online questionnaire was distributed by relevant health professional organisations predominately in Australia, Canada and the US to evaluate health professionals' knowledge, views and expectations of PRS. Eligible participants were health professionals who provide cancer risk assessments. Results from the questionnaire were analysed descriptively and content analysis was undertaken of free-text responses. In total, 105 health professionals completed the questionnaire (genetic counsellors 84%; oncologists 6%; clinical geneticists 4%; other 7%). Although responses differed between countries, most participants (61%) had discussed PRS with patients, 20% had ordered a test and 14% had returned test results to a patient. Confidence and knowledge around interpreting PRS were low. Although 69% reported that polygenic testing will certainly or likely influence patient care in the future, most felt unprepared for this. If scaled up to the population, 49% expect that general practitioners would have a primary role in the provision of PRS, supported by genetic health professionals. These findings will inform the development of resources to support health professionals offering polygenic testing, currently and in the future., (© 2021 John Wiley & Sons A/S . Published by John Wiley & Sons Ltd.)

Background: There is mounting evidence of the benefit of risk-stratified (risk-tailored) cancer population screening, when compared to standard approaches. However, shifting towards this approach involves changes to practice that may give rise to implementation challenges., Objectives: To explore the public's potential acceptance of risk-stratified screening across different cancer types, including reducing screening frequency if at low risk and the use of personal risk information, to inform implementation strategies., Method: Semi-structured interviews were conducted with 40 public participants; half had received personal genomic risk information and half had not. Participants were prompted to consider different cancers. Data were analysed thematically as one dataset., Results: Themes included the following: (a) a sense of security; (b) tailored screening is common sense; (c) risk and the need to take action; (d) not every cancer is the same; and (e) trust and belief in health messages. Both groups expressed similar views. Participants were broadly supportive of risk-stratified screening across different cancer types, with strong support for increased screening frequency for high-risk groups. They were less supportive of reduced screening frequency or no screening for low-risk groups. Findings suggest the public will be amenable to reducing screening when the test is invasive and uncomfortable; be less opposed to forgo screening if offered the opportunity to screen at some stage; and view visible cancers such as melanoma differently., Conclusions: Approaching distinct cancer types differently, tailoring messages for different audiences and understanding reasons for participating in screening may assist with designing future implementation strategies for risk-stratified cancer screening., (© 2021 The Authors. Health Expectations published by John Wiley & Sons Ltd.)

Precision public health is a relatively new field that integrates components of precision medicine, such as human genomics research, with public health concepts to help improve population health. Despite interest in advancing precision public health initiatives using human genomics research, current and future opportunities in this emerging field remain largely undescribed. To that end, we provide examples of promising opportunities and current applications of genomics research within precision public health and outline future directions within five major domains of public health: biostatistics, environmental health, epidemiology, health policy and health services, and social and behavioral science. To further extend applications of genomics within precision public health research, three key cross-cutting challenges will need to be addressed: developing policies that implement precision public health initiatives at multiple levels, improving data integration and developing more rigorous methodologies, and incorporating initiatives that address health equity. Realizing the potential to better integrate human genomics within precision public health will require transdisciplinary efforts that leverage the strengths of both precision medicine and public health.

Background: Most subsequent new primary or recurrent melanomas might be self-detected if patients are trained to systematically self-examine their skin and have access to timely medical review (patient-led surveillance). Routinely scheduled clinic visits (clinician-led surveillance) is resource-intensive and has not been shown to improve health outcomes; fewer visits may be possible if patient-led surveillance is shown to be safe and effective. The MEL-SELF trial is a randomised controlled trial comparing patient-led surveillance with clinician-led surveillance in people who have been previously treated for localised melanoma., Methods: Stage 0/I/II melanoma patients (n = 600) from dermatology, surgical, or general practice clinics in NSW Australia, will be randomised (1:1) to the intervention (patient-led surveillance, n = 300) or control (usual care, n = 300). Patients in the intervention will undergo a second randomisation 1:1 to polarised (n = 150) or non-polarised (n = 150) dermatoscope. Patient-led surveillance comprises an educational booklet, skin self-examination (SSE) instructional videos; 3-monthly email/SMS reminders to perform SSE; patient-performed dermoscopy with teledermatologist feedback; clinical review of positive teledermoscopy through fast-tracked unscheduled clinic visits; and routinely scheduled clinic visits following each clinician's usual practice. Clinician-led surveillance comprises an educational booklet and routinely scheduled clinic visits following each clinician's usual practice. The primary outcome, measured at 12 months, is the proportion of participants diagnosed with a subsequent new primary or recurrent melanoma at an unscheduled clinic visit. Secondary outcomes include time from randomisation to diagnosis (of a subsequent new primary or recurrent melanoma and of a new keratinocyte cancer), clinicopathological characteristics of subsequent new primary or recurrent melanomas (including AJCC stage), psychological outcomes, and healthcare use. A nested qualitative study will include interviews with patients and clinicians, and a costing study we will compare costs from a societal perspective. We will compare the technical performance of two different models of dermatoscope (polarised vs non-polarised)., Discussion: The findings from this study may inform guidance on evidence-based follow-up care, that maximises early detection of subsequent new primary or recurrent melanoma and patient wellbeing, while minimising costs to patients, health systems, and society., Trial Registration: Australian New Zealand Clinical Trials Registry (ANZCTR): ACTRN12621000176864 . Registered on 18 February 2021.

Ultraviolet radiation exposure is the leading cause of skin cancer, and childhood and adolescence is a particularly susceptible life period for exposure. This systematic review assessed whether interventions in elementary and secondary school settings reduced sun exposure, sunburns, and development of melanocytic nevi, and improved sun-safe knowledge, attitudes and sun protection behaviors in childhood and adolescence. A systematic search up to June 2020 of MEDLINE, Embase, CINAHL, Cochrane and ProQuest databases was undertaken, for studies conducted among students in an elementary or secondary school setting that compared an intervention group with a pre-intervention or separate control group. Data were summarized using qualitative synthesis. Pooled effects from meta-analysis with random effects were also reported where appropriate. Sixty-five studies were included (22 randomized, 43 non-randomized). Most studies assessed measures of sun-safe behaviors, knowledge and attitudes (57, 48 and 33 studies, respectively), and observed improved sun protection behaviors and sun-safe knowledge, whereas few studies reduced time in the sun. About half improved participants' attitudes towards tanning desirability. Sunburns and nevus counts were less frequently assessed, but about half of these studies observed a reduction. There was substantial heterogeneity for outcomes except attitudes towards the desirability of tanning (pooled odds ratio from 6 studies: 0.81, 95% confidence interval 0.70-0.94). Key positive intervention features included: elementary school settings, interactive features or multiple components, and incorporating social norm influences. Most studies were classified at high risk of bias. In conclusion, school-based sun-related interventions had positive impacts on behaviors and attitudes among elementary and secondary school children., (Copyright © 2021 Elsevier Inc. All rights reserved.)

Objective: This study explored family communication about undertaking genomic sequencing, and intentions to communicate pertinent heritable results to family members., Methods: Semi-structured interviews were conducted with cancer patients (n = 53) and their relatives (n = 20) who underwent germline genome sequencing or molecular tumor testing. Interviews were audio-recorded, transcribed and analyzed using thematic analysis., Results: Key themes relevant to family communication about undertaking sequencing included: perceiving family member interest, delaying discussion until results were received, having shared capacity to understand and cope, and having open communication in the family. Intended communication subsequent to receiving results was affected by: disease severity, risk management options, degree of closeness in the family, sense of responsibility, and potential adverse impacts on family. Resource and support needs varied based on the complexity of test results, health professionals' availability, and disease severity. Unique subthemes were identified for specific subgroups., Conclusion: Current findings support the need to assess the impact and resource needs specific to each clinical application of genomic sequencing., Practice Implications: Increasingly sophisticated and complex clinical genomic sequencing warrants development of family-centered interventions and resources to facilitate preference-sensitive communication about genomic sequencing, including disseminating relevant information to family members., Competing Interests: Declaration of Competing Interest BM has a remunerated consultant role with the company AstraZeneca with respect to an unrelated project. The other authors declare no conflicts of interest., (Copyright © 2020 Elsevier B.V. All rights reserved.)

Background: The Melanoma Genomics Managing Your Risk Study is a randomised controlled trial that aims to evaluate the efficacy of providing information on personal genomic risk of melanoma in reducing ultraviolet radiation (UV) exposure, stratified by traditional risk group (low or high phenotypic risk) in the general population. The primary outcome is objectively measured total daily Standard Erythemal Doses at 12 months. Secondary outcomes include UV exposure at specific time periods, self-reported sun protection and skin-examination behaviours, psychosocial outcomes, and ethical considerations surrounding offering genomic testing at a population level. A within-trial and modelled economic evaluation will be undertaken from an Australian health system perspective to assess the cost-effectiveness of the intervention., Objective: To publish the pre-determined statistical analysis plan (SAP) before database lock and the start of analysis., Methods: This SAP describes the data synthesis, analysis principles and statistical procedures for analysing the outcomes from this trial. The SAP was approved after closure of recruitment and before completion of patient follow-up. It outlines the planned primary analyses and a range of subgroup and sensitivity analyses. Health economic outcomes are not included in this plan but will be analysed separately. The SAP will be adhered to for the final data analysis of this trial to avoid potential analysis bias that may arise from knowledge of the outcome data., Results: This SAP is consistent with best practice and should enable transparent reporting., Conclusion: This SAP has been developed for the Melanoma Genomics Managing Your Risk Study and will be followed to ensure high-quality standards of internal validity and to minimise analysis bias., Trial Registration: Prospectively registered with the Australian New Zealand Clinical Trials Registry, ID: ACTR N12617000691347 . Registered on 15 May 2017.

Background: Genomic risk information, based on common genomic susceptibility variants associated with risk of complex diseases such as cancer, may be incorporated into personalised prevention and screening strategies. We aimed to engage with members of the public, who are important stakeholders in this process, to further inform program development and other implementation outcomes such as acceptability and appropriateness., Methods: Semi-structured interviews were undertaken with 30 participants (aged 24-69 years, 50% female) recruited from a pilot trial in which they received personalised genomic risk information for melanoma. We explored participants' views and attitudes towards offering general personal genomic risk information to the broader population. The data were analysed thematically., Results: Two overarching themes relevant to implementation considerations were identified. Firstly, participants' preferences for accepting an offer of genomic risk information were based on family history, disease incidence and the possibility of prevention. Secondly, participants felt that the processes for offering risk information should be based on individual preferences, triaged according to risk and be supported by a health professional trained in genomics., Conclusions: Participants felt that offering personal genomic risk information to the general population to inform prevention and early detection recommendations is acceptable, particularly for common, complex conditions such as cancer. Understanding participants' preferences for receiving genomic risk information will assist with communication strategies and health workforce planning. We anticipate that these findings will contribute to the development of implementation strategies for incorporating genomic risk information into routine clinical practice.

Publics are key stakeholders in population genomic screening and their perspectives on ethical considerations are relevant to programme design and policy making. Using semi-structured interviews, we explored social views and attitudes towards possible future provision of personalised genomic risk information to populations to inform prevention and/or early detection of relevant conditions. Participants were members of the public (n=30) who had received information on their personal genomic risk of melanoma as part of a research project. The focus of the analysis presented here is participants' views regarding ethical considerations relevant to population genomic screening more generally. Data were analysed thematically and four key themes related to ethical considerations were identified: (i) personal responsibility for health: 'forewarned is forearmed'; (ii) perceptions of, and responses to, genetic fatalism; (iii) implications for parenting and reproduction; (iv) divided views on choosing to receive genomic risk information. Ethical considerations underlying these themes include the valorisation of information and choice, paternalism, non-directiveness and increasing responsibilisation of individuals in health and healthcare. These findings arguably indicate a thin public conceptualisation of population genomic testing, which draws heavily on how these themes tend to be described in existing social discourses. Findings suggest that further public engagement is required to increase complexity of debate, to consider (for example) the appropriate place of individual and social interests in population genomic testing. Further discernment of relevant ethical approaches, drawing on ethical frameworks from both public health and clinical settings, will also assist in determining the appropriate implementation of population genomic screening for complex conditions., Competing Interests: Competing interests: None declared., (© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.)

Skin cancer risk information based on melanocortin-1 receptor (MC1R) variants could inform prevention and screening recommendations for Hispanics, but limited evidence exists on the impact of MC1R variants in Hispanic populations. We studied Hispanic subjects, predominately of Puerto Rican heritage, from Tampa, Florida, US, and Ponce, PR. Blood or saliva samples were collected by prospective recruitment or retrieved from biobanks for genotyping of MC1R variants and ancestry informative markers. Participant demographic and self-reported phenotypic information was collected via biobank records or questionnaires. We determined associations of MC1R genetic risk categories and phenotypic variables and genetic ancestry. Over half of participants carried MC1R variants known to increase risk of skin cancer, and there was diversity in the observed variants across sample populations. Associations between MC1R genetic risk groups and some pigmentation characteristics were identified. Among Puerto Ricans, the proportion of participants carrying MC1R variants imparting elevated skin cancer risk was consistent across quartiles of European, African, and Native American genetic ancestry. These findings demonstrate that MC1R variants are important for pigmentation characteristics in Hispanics and that carriage of high risk MC1R alleles occurs even among Hispanics with stronger African or Native American genetic ancestry.

Implementation of any new medical test, including germline genome sequencing (GS) to inform cancer risk, should take place only when a test is effective, ethically justifiable and acceptable to a population. Little empirical evidence exists on patient views regarding GS for cancer risk. The aim of this study was to elicit opinions on who should be offered GS and who should pay for it. Participants with a probable genetic basis for their cancer (n = 335) and blood relatives (n = 199) were recruited to undergo GS and invited to complete questionnaires at baseline. A subset (n = 40) also participated in qualitative interviews about their views regarding access to GS to detect cancer risk. Our response rate was 92% for questionnaires and 100% for interviews. Participants expressed high enthusiasm overall for access to GS for those with a family history of cancer and anyone who requested testing, but enthusiasm was lower for universal access, if opting out was possible and finances not an issue. Rationales for these views reflected maximising the sound use of resources. Challenges to introducing community screening via GS to limit cancer burden were raised, including the current limits of science and individual ability to cope with uncertain results. Participants undergoing GS supported cancer risk testing for those with a family history of cancer but were concerned about the challenges of designing and implementing a population-based GS cancer-screening program., (© 2019 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)

Background: Exposure to ultraviolet radiation from sunlight is directly associated with melanoma skin cancer, however reducing sun-exposure can be difficult to achieve at a population level., Methods: Using a genomic risk information behaviour change trial for melanoma prevention, we classified participants as risk-seeking, risk-neutral or risk-averse for domain-specific risk taking (DOSPERT). One-way ANOVA determined the association between socio-demographic characteristics and risk-taking score, and multivariable linear regression ascertained impact of an individual's underlying risk propensity on an objective measure of sun-exposure, standard erythemal dose (SED), at 3-months follow-up., Results: Of 119 participants, mean age 53 years; 50% males, 87% had a personal/family history of cancer; 19% were classified risk-seeking, 57% risk-neutral. The mean risk-taking score was significantly higher in younger participants (≤50 years: 13.86 vs. >50 years: 11.11, p = 0.003); and lower in those with a personal/family history of skin cancer versus without (10.55 vs 13.33, p = 0.009). Risk averse individuals had lower weekly mean SEDs at 3-months than risk neutral and risk seeking individuals (2.56, 5.81, 4.81 respectively, p = 0.01). Risk seekers showed fewer sun protective habits (p < 0.001); and higher intentional tanning, (p = 0.01). At 3-months, risk seekers attained 16%-54% lower SEDs in the genomic information group compared with controls, however this was not significantly different across risk groups (interaction p = 0.13)., Conclusion: An individual's underlying risk attitude is likely associated with sun-exposure behaviours, and may modify the effect of a genomic risk information behaviour change intervention. Young people and risk seekers may benefit most from being given information on their genetic risk of melanoma., (Copyright © 2019 Elsevier Ltd. All rights reserved.)

Importance: Skin self-examination (SSE) is a key factor in the early detection of melanoma, and many new and recurrent melanomas are first detected by patients themselves or their family members., Objective: To explore the views of patients with melanoma regarding SSE in general, as well as their attitudes toward using novel digital technologies to support their own SSE., Design, Setting, and Participants: Qualitative study with semistructured interviews that were conducted from June 20 to December 12, 2016, with 37 individuals in Sydney, Australia, who were previously treated for a first primary localized melanoma during 2014 and had not had a recurrence or new primary melanoma in the time since treatment., Main Outcomes and Measures: Patients' views and experiences, analyzed thematically., Results: A total of 37 patients (11 women and 26 men; median age, 67 years [interquartile range, 59.5-72 years]) were interviewed. Participants perceived SSE as important for the early identification of local recurrence or new primary melanomas. Despite this belief, participants did not report undertaking full-body SSE on a regular basis. Factors that influenced their low engagement in thorough SSE included lack of self-efficacy, reliance on clinician consultations as the primary means of melanoma detection, and fear of cancer recurrence. Regarding the use of digital technology to assist with SSE, the key motivating factors in favor of such tools were the ability to track changes in lesions over time and the use of automated reminders to undertake SSE. Deterrents included a lack of confidence in undertaking SSE and in using new technology., Conclusions and Relevance: Patients with melanoma are aware of the importance of thorough skin examinations. However, a lack of confidence in their ability to undertake SSE and reliance on clinicians as the primary means of melanoma detection may inhibit patients from undertaking regular and thorough SSE. Patients may benefit from new digital technologies that assist them in undertaking SSE, provided they have appropriate education and technical support.

While Australia now has well-established national screening programs for breast, bowel and cervical cancers, research continues into the feasibility of developing systematic screening programs for a number of other cancers. In this paper, experts in their fields provide perspectives on the current state of play and future directions for screening and surveillance for melanoma, Lynch syndrome, and liver, lung and prostate cancers in Australia. Although the evidence does not support population screening, there may be opportunities to prevent thousands of deaths through systematic approaches to the early detection of lung cancer and melanoma, testing for Lynch syndrome, and organised surveillance for hepatocellular carcinoma among individuals at high risk - guided by targeted research. The paper also looks at what impact new prostate specific antigen testing guidelines are having on screening for prostate cancer., Competing Interests: FM has done paid consultancy work for Rhythm Biosciences and received payment for providing medicolegal opinions. BA’s then-employer, the Sax Institute, was reimbursed by the Prostate Cancer Foundation of Australia (PCFA) for remunerated time spent advising the systematic evidence review team for the PSA testing guideline and on writing parts of the guideline document. BA is a member of the PCFA’s Board and Chair of their Research Advisory Committee. He receives no remuneration for either of these positions, but all expenses for attending meetings are paid for by the PCFA.

Background: As part of a pilot randomised controlled trial examining the impact of personal melanoma genomic risk information on behavioural and psychosocial outcomes, GPs were sent a booklet containing their patient's genomic risk of melanoma., Aim: Using this booklet as an example of genomic risk information that might be offered on a population-level in the future, this study explored GP attitudes towards communicating genomic risk information and resources needed to support this process., Design & Setting: Semi-structured interviews were conducted with 22 Australian GPs., Method: The interviews were recorded and transcribed, and data were analysed thematically., Results: GPs in this sample believed that communicating genomic risk may become a responsibility within primary care and they recommended a shared decisionmaking approach to guide the testing process. Factors were identified that may influence how and when GPs communicate genomic risk information. GPs view genomics-based risk as one of many disease risk factors and feel that this type of information could be applied in practice in the context of overall risk assessment for diseases for which prevention and early detection strategies are available. They believe it is important to ensure that patients understand their genomic risk and do not experience long-term adverse psychological responses. GPs desire clinical practice guidelines that specify recommendations for genomic risk assessment and patient management, point-of-care resources, and risk prediction tools that include genomic and traditional risk factors., Conclusion: These findings will inform the development of resources for preparing GPs to manage and implement genomic risk information in practice., Competing Interests: The authors declare that no competing interests exist.

The aim of this research was to understand how genomics-based personal melanoma risk information impacts psychological and emotional health outcomes in the general population. In a pilot randomized controlled trial, participants (n = 103) completed the Multidimensional Impact of Cancer Risk Assessment (MICRA) questionnaire, 3 months after receiving personal melanoma genomic risk information. Mean scores for MICRA items and subscales were stratified by genomic risk group (low, average, high), gender, education, age, and family history of melanoma. P values were obtained from t-tests and analysis of variance tests. We found that overall, participants (mean age: 53 years, range: 21-69; 52% female) had a total MICRA mean score of 18.6 (standard deviation: 11.1, range: 1-70; possible range: 0-105). The high genomic risk group had higher mean scores for the total (24.2, F 2,100  = 6.7, P = 0.0019), distress (3.3, F 2,100  = 9.4, P = 0.0002) and uncertainty (8.5, F 2,100  = 6.5, P = 0.0021) subscales compared with average (17.6, 1.1, and 4.5, respectively) and low-risk groups (14.1, 0.5, and 2.5, respectively). Positive experiences scores were consistent across risk groups. In conclusion, MICRA scores for the total, distress and uncertainty subscales in our study were relatively low overall, but people who receive a high genomic risk result may benefit from increased support following testing.

Background: Reducing ultraviolet radiation (UV) exposure and improving early detection may reduce melanoma incidence, mortality and health system costs. This study aims to evaluate the efficacy and cost-effectiveness of providing information on personal genomic risk of melanoma in reducing UV exposure at 12 months, according to low and high traditional risk., Methods: In this randomized controlled trial, participants (target sample = 892) will be recruited from the general population, and randomized (1:1 ratio, intervention versus control). Intervention arm participants provide a saliva sample, receive personalized melanoma genomic risk information, a genetic counselor phone call, and an educational booklet on melanoma prevention. Control arm participants receive only the educational booklet. Eligible participants are aged 18-69 years, have European ancestry and no personal history of melanoma. All participants will complete a questionnaire and wear a UV dosimeter to objectively measure their sun exposure at baseline, 1- and 12-month time-points, except 1-month UV dosimetry will be limited to ~250 participants. The primary outcome is total daily Standard Erythemal Doses at 12 months. Secondary outcomes include objectively measured UV exposure for specific time periods (e.g. midday hours), self-reported sun protection and skin-examination behaviors, psycho-social outcomes, and ethical considerations surrounding offering genomic testing at a population level. A within-trial and modelled economic evaluation will be undertaken from an Australian health system perspective to assess the intervention costs and outcomes., Discussion: This trial will inform the clinical and personal utility of introducing genomic testing into the health system for melanoma prevention and early detection at a population-level., Trial Registration: Australian New Zealand Clinical Trials Registry ACTRN12617000691347., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Self-reported sun exposure is commonly measured using questionnaires or diaries, but there are limited data on their validity, particularly for population subgroups. This research aimed to compare self-reported sun exposure, measured as (1) habitual time outdoors over the past month on weekends and weekdays and (2) a 4-day diary measure, against objective measurement of personal ultraviolet radiation using polysulfone film dosimeters. From November 2015 to January 2016, 94 people (22-69 years and living in New South Wales, Australia) completed a questionnaire, 4-day diary and 4-day dosimeter measures of overall, weekday and weekend sun exposure. Spearman correlations and Bland-Altman plots were used to measure agreement. The overall weekly correlation was 0.57 (95% confidence interval [CI] 0.44, 0.68) between standard erythemal doses (SEDs) measured by dosimeter and time spent outdoors measured by questionnaire, 0.74 (95% CI 0.66-0.81) between dosimeter and diary, and 0.59 (95% CI 0.48-0.68) between questionnaire and diary measures. Validity was lower for younger people and weekend sun exposure. There was strong correlation between dosimeter and sun diary measures and moderate correlation between dosimeter and questionnaire measures. Daily measurement over a longer period may be required to accurately capture weeklong sun exposure in all population subgroups., (© 2018 The American Society of Photobiology.)

Communicating personalized genomic risk results for common diseases to the general population as a form of tailored prevention is novel and may require alternative genetic counseling service delivery models. We describe the development and evaluation of a communication protocol for disclosing melanoma genomic risk information to the asymptomatic general population and assess participants' satisfaction and acceptability. Participants (n = 117) were aged 22-69 years, living in New South Wales, Australia and unselected for family history. They provided a saliva sample and had genomic testing for melanoma for low to moderate penetrant melanoma susceptibility variants in 21 genes. Participants could choose to receive their results from a genetic counselor via telephone, followed by a mailed booklet or to receive their risk result via mailed booklet only with a follow-up call for those at high risk. A follow-up questionnaire was completed by 85% of participants 3-months later. Most participants (80%) elected to receive their result via telephone. Participants were highly satisfied with the delivery of results (mean 3.4 out of 4, standard deviation 0.5), and this did not differ by delivery mode, risk category, age or sex. On follow-up, 75% accurately recalled their risk category, 6% indicated a preference for a different delivery mode, either electronic or face-to-face. The process of disclosing genomic risk results to the general population over the telephone with accompanying written material was feasible and acceptable, and may be useful for communicating polygenic risk for common diseases in the context of increasing demands for genomic testing.

Background: Communication of personalized melanoma genomic risk information may improve melanoma prevention behaviors., Methods: We evaluated the feasibility and acceptability of communicating personalized genomic risk of melanoma to the public and its preliminary impact on behaviors and psychosocial outcomes. One hundred eighteen people aged 22 to 69 years provided a saliva sample and were randomized to the control (nonpersonalized educational materials) or intervention (personalized booklet presenting melanoma genomic risk as absolute and relative risks and a risk category based on variants in 21 genes, telephone-based genetic counseling, and nonpersonalized educational materials). Intention-to-treat analyses overall and by-risk category were conducted using ANCOVA adjusted for baseline values., Results: Consent to participate was 41%, 99% were successfully genotyped, and 92% completed 3-month follow-up. Intervention participants reported high satisfaction with the personalized booklet (mean = 8.6, SD = 1.6; on a 0-10 scale) and genetic counseling (mean = 8.1, SD = 2.2). No significant behavioral effects at 3-month follow-up were identified between intervention and control groups overall: objectively measured standard erythemal doses per day [-16%; 95% confidence interval (CI), -43% to 24%] and sun protection index (0.05; 95% CI, -0.07 to 0.18). There was increased confidence identifying melanoma at 3 months (0.40; 95% CI, 0.10-0.69). Stratified by risk category, effect sizes for intentional tanning and some individual sun protection items appeared stronger for the average-risk group. There were no appreciable group differences in skin cancer-related worry or psychologic distress., Conclusions: Our results demonstrate feasibility and acceptability of providing personalized genomic risk of melanoma to the public., Impact: Genomic risk information has potential as a melanoma prevention strategy. Cancer Epidemiol Biomarkers Prev; 26(2); 212-21. ©2016 AACR., (©2016 American Association for Cancer Research.)

Background: Personalized genomic risk information has the potential to motivate behaviour change and promote population health, but the success of this will depend upon effective risk communication strategies., Objective: To determine preferences for different graphical and written risk communication formats, and the delivery of genomic risk information including the mode of communication and the role of health professionals., Design: Focus groups, transcribed and analysed thematically., Participants: Thirty-four participants from the public., Methods: Participants were provided with, and invited to discuss, a hypothetical scenario giving an individual's personalized genomic risk of melanoma displayed in several graphical formats., Results: Participants preferred risk formats that were familiar and easy to understand, such as a 'double pie chart' and '100 person diagram' (pictograph). The 100 person diagram was considered persuasive because it humanized and personalized the risk information. People described the pie chart format as resembling bank data and food (such as cake and pizza). Participants thought that email, web-based platforms and postal mail were viable options for communicating genomic risk information. However, they felt that it was important that a health professional (either a genetic counsellor or 'informed' general practitioner) be available for discussion at the time of receiving the risk information, to minimize potential negative emotional responses and misunderstanding. Face-to-face or telephone delivery was preferred for delivery of high-risk results., Conclusions: These public preferences for communication strategies for genomic risk information will help to guide translation of genome-based knowledge into improved population health., (© 2015 The Authors. Health Expectations. Published by John Wiley & Sons Ltd.)

Aim: To explore the potential emotional and behavioural impact of providing information on personalised genomic risk to the public, using melanoma as an example, to aid research translation., Methods: We conducted four focus groups in which 34 participants were presented with a hypothetical scenario of an individual's lifetime genomic risk of melanoma (using the term 'genetic risk'). We asked about understanding of genetic risk, who would choose to receive this risk information, potential emotional and behavioural impacts, and other concerns or potential benefits. Data were analysed thematically., Results: Participants thought this risk information could potentially motivate preventive behaviours such as sun protection and related it to screening for other diseases including breast cancer. Factors identified as influencing the decision to receive genetic risk information included education level, children, age and gender. Participants identified potential negative impacts on the recipient such as anxiety and worry, and proposed that this could be mitigated by providing additional explanatory and prevention information, and contact details of a health professional for further discussion. Participants' concerns included workplace and insurance discrimination., Conclusion: Participants recognised the potential for both positive and negative emotional and behavioural impacts related to receiving information on the personalised genomic risk of melanoma., (© 2015 S. Karger AG, Basel.)