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.
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.
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.
Semi-structured interviews were conducted with 22 Australian GPs.
The interviews were recorded and transcribed, and data were analysed thematically.
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.
These findings will inform the development of resources for preparing GPs to manage and implement genomic risk information in practice.
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.
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.
•This interactive educational activity incorporated handheld UV dosimeters.•The intervention improved UV-related knowledge among primary school students.•Knowledge about the UV Index improved the ...most.•Knowledge about UV harms, sun protective clothing and behaviours also improved.
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.
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.
•Health-related risk taking was higher in younger people.•Health-related risk taking was lower in people with a personal/family cancer history.•Risk-averse individuals showed lower levels of ...sun-exposure than risk-seekers.•Provision of genomic risk of melanoma to risk seekers might reduce sun-exposure.
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.
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.
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.
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.
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.
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