Adherence to melanoma screening and surveillance skin check schedules tailored to personal risk.

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.

Ethical, legal, and social issues related to genetics and genomics in cancer: A scoping review and narrative synthesis.

Genomics is increasingly being incorporated into models of care for cancer. Understanding the ethical, legal, and social issues (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 (1) equity of access, which included structural barriers to testing and research, access to preventive and follow-up care, and engagement with health systems; (2) family considerations, such as an ethical obligation to disseminate relevant genomic information to at-risk family members; (3) legal considerations, including privacy and confidentiality, genetic discrimination, and the prospective duty to reclassify variants; and (4) 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.

Patient demographic characteristics and risk factors associated with sun protection behaviours in specialist melanoma clinics.

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.

A 10-year update to the principles for clinical trial data sharing by pharmaceutical companies: perspectives based on a decade of literature and policies.

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.

Long-term cost-effectiveness of a melanoma prevention program using genomic risk information compared with standard prevention advice in Australia.

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.

Independent evaluation of melanoma polygenic risk scores in UK and Australian prospective cohorts.

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.

Impact of personal genomic risk information on melanoma prevention behaviors and psychological outcomes: a randomized controlled trial.

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.

Knowledge, views and expectations for cancer polygenic risk testing in clinical practice: A cross-sectional survey of health professionals.

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.

School-based interventions to improve sun-safe knowledge, attitudes and behaviors in childhood and adolescence: A systematic review.

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.

Acceptability of risk-stratified population screening across cancer types: Qualitative interviews with the Australian public.

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.

Who should access germline genome sequencing? A mixed methods study of patient views.

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.

'There is a lot of good in knowing, but there is also a lot of downs': public views on ethical considerations in population genomic screening.

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.

Implementation considerations for offering personal genomic risk information to the public: a qualitative study.

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.

Development and Evaluation of a Telephone Communication Protocol for the Delivery of Personalized Melanoma Genomic Risk to the General Population.

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.

Public preferences for communicating personal genomic risk information: a focus group study.

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.

Targeted Screening for Cancer: Learnings and Applicability to Melanoma: A Scoping Review.

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.

Acceptability of risk-tailored cancer screening among Australian GPs: a qualitative study.

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.

A review of skin cancer primary prevention activities in primary care settings.

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.

Public Preferences for Genetic and Genomic Risk-Informed Chronic Disease Screening and Early Detection: A Systematic Review of Discrete Choice Experiments.

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.