Publics' knowledge of, attitude to and motivation towards health-related genomics: a scoping review.

The use of genomic data in research and genomic information in clinical care is increasing as technologies advance and sequencing costs decrease. Using Rogers' Diffusion of Innovation (DOI) theory as a framework we reviewed recent literature examining publics' current knowledge of, attitude to, and motivation towards health-related genomics in clinical and research settings. The population of interest was described as 'publics' to denote the heterogeneity of 'the public'. Eligible studies were published in English between 2016-2022. We retrieved 1657 records, with 278 full-text reviewed against the eligibility criteria and concept definitions. In total, 99 articles were included in the review and descriptive numerical summaries were collated. Knowledge literature was categorized using deductive thematic analysis. For attitude and motivation, literature was coded using an analytic framework developed by the authors. There was wide variability in concept definition and measurement across studies. Overall, there was general positivity about genomics, with high awareness but little familiarity or factual knowledge. Publics had high expectations of genomics and perceived that it could provide them with information for their future. Only a few key attitudes were found to be important as motivators or barriers for participation in genomics; these were related to personal and clinical utility of the information. Context was often missing from studies, decreasing the utility of findings for implementation or public engagement. Future research would benefit by using theory-driven approaches to assess relevant publics' knowledge and attitudes of specific contexts or applications to support genomic implementation and informed decision-making.

Community Genetics screening in a pandemic: solutions for pre-test education, informed consent, and specimen collection.

A Community Genetics carrier screening program for the Jewish community has operated on-site in high schools in Sydney (Australia) for 25 years. During 2020, in response to the COVID-19 pandemic, government-mandated social-distancing, 'lock-down' public health orders, and laboratory supply-chain shortages prevented the usual operation and delivery of the annual testing program. We describe development of three responses to overcome these challenges: (1) pivoting to online education sufficient to ensure informed consent for both genetic and genomic testing; (2) development of contactless telehealth with remote training and supervision for collecting genetic samples using buccal swabs; and (3) a novel patient and specimen identification 'GeneTrustee' protocol enabling fully identified clinical-grade specimens to be collected and DNA extracted by a research laboratory while maintaining full participant confidentiality and privacy. These telehealth strategies for education, consent, specimen collection and sample processing enabled uninterrupted delivery and operation of complex genetic testing and screening programs even amid pandemic restrictions. These tools remain available for future operation and can be adapted to other programs.

The Clinical and Psychosocial Outcomes for Women Who Received Unexpected Clinically Actionable Germline Information Identified through Research: An Exploratory Sequential Mixed-Methods Comparative Study.

Background Research identifying and returning clinically actionable germline variants offer a new avenue of access to genetic information. The psychosocial and clinical outcomes for women who have received this 'genome-first care' delivering hereditary breast and ovarian cancer risk information outside of clinical genetics services are unknown. Methods: An exploratory sequential mixed-methods case-control study compared outcomes between women who did (cases; group 1) and did not (controls; group 2) receive clinically actionable genetic information from a research cohort in Victoria, Australia. Participants completed an online survey examining cancer risk perception and worry, and group 1 also completed distress and adaptation measures. Group 1 participants subsequently completed a semi structured interview. Results: Forty-five participants (group 1) and 96 (group 2) completed the online survey, and 31 group 1 participants were interviewed. There were no demographic differences between groups 1 and 2, although more of group 1 participants had children (p = 0.03). Group 1 reported significantly higher breast cancer risk perception (p < 0.001) compared to group 2, and higher cancer worry than group 2 (p < 0.001). Some group 1 participants described how receiving their genetic information heightened their cancer risk perception and exacerbated their cancer worry while waiting for risk-reducing surgery. Group 1 participants reported a MICRA mean score of 27.4 (SD 11.8, range 9−56; possible range 0−95), and an adaptation score of 2.9 (SD = 1.1). Conclusion: There were no adverse psychological outcomes amongst women who received clinically actionable germline information through a model of 'genome-first' care compared to those who did not. These findings support the return of clinically actionable research results to research participants.

Pharmacogenomic testing: perception of clinical utility, enablers and barriers to adoption in Australian hospitals.

BACKGROUND: Despite healthcare professionals (HCP) endorsing the clinical utility of pharmacogenomics testing, use in clinical practice is limited. AIMS: To assess HCP' perceptions of pharmacogenomic testing and identify barriers to implementation. METHODS: HCP involved in prescribing decisions at three hospitals in Sydney, Australia, were invited to participate. The online survey assessed perceptions of pharmacogenomic testing, including: (i) demographic and practice variables; (ii) use, knowledge and confidence; (iii) perceived benefits; (iv) barriers to implementation; and (v) operational and/or system changes and personnel required to implement on site. RESULTS: HCP were predominantly medical practitioners (75/107) and pharmacists (25/107). HCP perceived pharmacogenomic testing was beneficial to identify reasons for drug intolerance (85/95) and risk of side-effects (86/95). Although testing was considered relevant to their practice (79/100), few HCP (23/100) reported past or intended future use (26/100). Few HCP reported confidence in their ability to identify indications for pharmacogenomic testing (14/107), order tests (19/106) and communicate results with patients (16/107). Lack of clinical practice guidelines (62/79) and knowledge (54/77) were identified as major barriers to implementation of pharmacogenomics. Comprehensive reimbursement for testing and clinical practice guidelines, alongside models-of-care involving multidisciplinary teams and local clinical champions were suggested as strategies to facilitate implementation of pharmacogenomic testing into practice. CONCLUSIONS: Pharmacogenomic testing was considered important to guide drug selection and dosing decisions. However, limited knowledge, low confidence and an absence of guidelines impede the use of pharmacogenomic testing. Establishment of local resources including multidisciplinary models-of-care was suggested to facilitate implementation of pharmacogenomics.

My Research Results: a program to facilitate return of clinically actionable genomic research findings.

Researchers and research participants increasingly support returning clinically actionable genetic research findings to participants, but researchers may lack the skills and resources to do so. In response, a genetic counsellor-led program to facilitate the return of clinically actionable findings to research participants was developed to fill the identified gap in research practice and meet Australian research guidelines. A steering committee of experts reviewed relevant published literature and liaised with researchers, research participants and clinicians to determine the scope of the program, as well as the structure, protocols and infrastructure. A program called My Research Results (MyRR) was developed, staffed by genetic counsellors with input from the steering committee, infrastructure services and a genomic advisory committee. MyRR is available to Human Research Ethics Committee approved studies Australia-wide and comprises genetic counselling services to notify research participants of clinically actionable research findings, support for researchers with developing an ethical strategy for managing research findings and an online information platform. The results notification strategy is an evidence-based two-step model, which has been successfully used in other Australian studies. MyRR is a translational program supporting researchers and research participants to access clinically actionable research findings.

Unselected Women's Experiences of Receiving Genetic Research Results for Hereditary Breast and Ovarian Cancer: A Qualitative Study.

Background: Although there is growing consensus that clinically actionable genetic research results should be returned to participants, research on recipients' experiences and best practices for return of research results is scarce. Objective: This study explored how women in a population-based study (lifepool) experience receiving research results about actionable pathogenic variants (PVs) for hereditary breast and ovarian cancer (HBOC) using a two-step notification process with telephone genetic counseling (TGC) support. Methods: We conducted qualitative interviews with lifepool participants with an HBOC PV. We used team-based codebook thematic analysis to develop findings. Findings: Thirty-one women participated (mean age 62.5 years) on average 2.3 years (range 0.3-5.1 years) after result notification. Notification was unexpected but not traumatic and TGC support helped meet women's information and support needs. Notification with referral to a local genetics service empowered women to make informed decisions about personal and familial health. Adaptation to results over time was facilitated by three main processes: seeking information, family communication, and undertaking risk management and/or risk-reducing strategies. Conclusion: Using a two-step notification process to return clinically actionable HBOC PVs from research was well received by women in a population-based study of breast and ovarian cancer susceptibility. Having genetic counseling support with referral to local genetics services in the notification process facilitated women's feelings of empowerment and adaptation to their genetic information over time. These findings build the basis for future methods for the return of actionable genetic research results and population screening.

Supporting teachers to use genomics as a context in the classroom: an evaluation of learning resources for high school biology.

As genomics becomes embedded into healthcare, public genomic health literacy is critical to support decision-making for personal and family health decisions and enable citizens to engage with related social issues. School science education has the potential to establish the foundations of genetic and genomic literacy. The concept of literacy extends beyond conceptual understanding of biological principles to familiarity with the applications and implications of genetics, critical thinking skills, and socioscientific reasoning. We developed and evaluated a suite of resources for teaching genetics and genomics in the Australian senior biology syllabus for students aged 16-18 years. The aim was to increase teachers' knowledge and confidence to teach genetic and genomic content, and their capacity to develop robust genetic literacy in their students. Resources, including an inquiry-based task and five associated lesson plans, were developed and made freely available to teachers online. Evaluation was undertaken between December 2019 and March 2020 with a post-use survey emailed to teachers who had accessed the resources. The 56 teachers who responded rated the resources as high quality, engaging, and well-aligned with the syllabus. Teachers who used the resources self-reported increases in their knowledge and confidence in teaching. They also perceived positive outcomes in their students, reporting that the resources deepened their students understanding of genetic concepts, helped them to consider social and ethical issues, and developed their higher order thinking skills. Findings may inform future interactions with high schools to improve genetic literacy.

Education in youth-friendly genetic counseling.

Genetic counselors have long recognized the challenges of working with adolescents and young adults (AYA) and their families. In 2010, a framework of Youth-friendly Genetic Counseling was developed by an expert reference group with the aim to improve both care for AYAs and the experience of health professionals delivering that care. Subsequently, an education workshop was developed aimed to upskill genetic health professionals in youth-friendly genetic counseling. The workshop was piloted with genetic counselors in Australia and New Zealand. A purpose designed, pre- and post-workshop survey and post-workshop focus group was utilized for evaluation. Mean confidence scores increased pre- and post-workshop. Participants also demonstrated increases in knowledge regarding: adolescent development; developmental theory; social factors impacting on health; the needs of young people; practice challenges; youth-friendly engagement, communication, consent and confidentiality; practice approaches; principles of adolescent healthcare; ethical issues; and available services and resources. Focus group data revealed several themes relating to practice challenges, learning gains, barriers, and enablers to clinical translation and workshop feedback. Results demonstrate utility of the workshop in up-skilling genetic health professionals in the provision of youth-friendly genetic counseling. Consideration of adaptation and sustainability, by embedding this theoretical and skills-based workshop as a module within genetic counseling education, is required to ensure practice competence and the best health outcomes for young people and their families.

Prevalence of advance care directives in the community: a telephone survey of three Australian States.

BACKGROUND: The community prevalence of advance care directives (ACD) is low despite known benefits of advance care planning for patients, families and health professionals. AIM: To determine the community prevalence of instructional and appointing ACD in New South Wales, Victoria and Queensland and factors associated with completion of these documents. METHODS: A telephone survey of adults living in New South Wales, Victoria and Queensland (n = 1175) about completion of instructional ACD (making their own decisions about future healthcare) and appointing ACD (appointing another to decide). Quota sampling occurred based on population size by state, gender and age, with oversampling in smaller jurisdictions (Victoria and Queensland). RESULTS: Overall response rate was 33%. Six per cent of respondents reported completing an instructional ACD while 12% reported completing an appointing ACD. Female gender, higher educational level, personal experience of a major health scare and being widowed were significant predictors of completing an instructional ACD. Older age, higher educational level and being widowed were significant predictors of completing an appointing ACD. CONCLUSIONS: Despite long-standing efforts to increase advance care planning, community prevalence of ACD remains low, particularly for instructional ACD. This study found some different predictors for instructional ACD compared with appointing ACD, and also a potential role for experiential factors in triggering uptake. These findings suggest supplementing general community awareness campaigns with more nuanced and targeted efforts to improve ACD completion.

Challenges and perceived unmet needs of Chinese migrants affected by cancer: Focus group findings.

OBJECTIVES: Chinese migrant cancer survivors and carers face multiple barriers to accessing quality cancer information and support. This study aimed to explore the challenges and unmet needs experienced by the Australian Chinese community affected by cancer, and understand the contexts that hindered optimal care for this community. METHODS: Adult cancer survivors and carers, whose native language is Mandarin or Cantonese, were recruited through community cancer support organizations. Bilingual researchers conducted focus groups with participants in either Mandarin or Cantonese. Focus groups were audio-recorded, transcribed, translated into English and thematically analyzed using qualitative methods. FINDINGS: 62 Chinese-speaking participants (34 cancer survivors and 28 carers) participated in one of the eight focus groups conducted. The three main themes were (1) unmet information and support needs (trust, wellness, and rights); (2) barriers compounding unmet needs (language, health literacy, culture); and (3) participants' recommendations regarding cancer information and support provision. Seven subthemes of unmet needs were also identified: Trust (e.g., communication barriers, health system barriers, comparison regarding the care received), wellness (e.g., cultural differences produce conflict on views about wellness, need for psychological, community, and spiritual support), and rights (e.g., low awareness of financial and legal assistance, other factors increasing or reducing vulnerability). CONCLUSIONS: This study highlights the needs and provides new insights into the impact of language, culture and health literacy barriers on the unmet information and support needs of the Chinese community affected by cancer. The key findings will inform the development of culturally targeted information and support resources for this community.

Community Knowledge of Law on End-of-life Decision-making: An Australian Telephone Survey.

The law has a clear role to play in supporting patients and their substitute decision-makers (SDMs) to be involved in end-of-life (EOL) decision-making. Although existing literature suggests that knowledge of EOL law is variable among health professionals, there is little information about the extent and sources of such knowledge within the general community. A telephone survey of a representative sample of adults in three Australian States used six case scenarios to examine the extent to which adults know their legal duties, rights and powers as patients or SDMs; the sources from which people derive relevant legal knowledge; experiences of EOL decision-making; and individual characteristics associated with levels of knowledge. The results show considerable variation in levels of legal knowledge dependent primarily of the area of decision-making presented, some sizeable gaps in people's knowledge of EOL law, and varied awareness of how to access appropriate information on this subject. This study points to the need to increase community legal literacy around EOL decision-making, enhance awareness of the role of law in these circumstances and promote the availability of reliable and accessible information on the law at the time when it is needed.

Dances With Denial: Have Medical Oncology Outpatients Conveyed Their End-of-Life Wishes and Do They Want To?

Objectives: This study surveyed a sample of medical oncology outpatients to determine (1) the proportion who have already discussed and documented their end-of-life (EOL) wishes; (2) when and with whom they would prefer to convey their EOL wishes; (3) the EOL issues they would want to discuss; and (4) the association between perceived cancer status and advance care planning (ACP) participation. Methods: Adult medical oncology outpatients were approached in the waiting room of an Australian tertiary treatment center. Consenting participants completed a pen-and-paper survey assessing participation in ACP, preferences for conveying EOL wishes, timing of EOL discussions, and EOL issues they want to be asked about. Results: A total of 203 patients returned the survey (47% of eligible). EOL discussions occurred more frequently with support persons (47%) than with doctors (7%). Only 14% had recorded their wishes, and 45% had appointed an enduring guardian. Those who perceived their cancer as incurable were more likely to have participated in ACP. If facing EOL, patients indicated that they would want family involved in discussions (85%), to be able to write down EOL wishes (82%), and to appoint enduring guardians (91%). Many (45%) preferred the first discussion to happen when their disease became incurable. Slightly less than one-third thought discussions regarding EOL should be patient-initiated. Most agreed doctors should ask about preferred decision-making involvement (92%), how important it is that pain is managed well (95%), and how important it is to remain conscious (82%). Fewer (55%) wanted to be asked about the importance of care extending life. Conclusions: Many patients would like to have discussions regarding EOL care with their doctor and involve their support persons in this process. Only a small percentage of respondents had discussed EOL care with their doctors, recorded their wishes, or appointed an enduring guardian. The first step requires clinicians to ask whether an individual patient wishes to discuss EOL issues, in what format, and at what level of detail.

Community knowledge of law at the end of life: availability and accessibility of web-based resources.

Objective The aim of the present study was to identify online resources community members may access to inform themselves about their legal duties and rights in end-of-life decision making. Methods Resource mapping identified online resources that members of the public in New South Wales, Victoria and Queensland are likely to identify, and assessed the ease or difficulty in locating them. Resources were then critically analysed for accessibility of language and format using the Patient Education Materials Assessment Tool (PEMAT). Results Identified resources differed considerably based on whether search terms identified by community members or experts were used. Most resources focused on advance directives, enduring powers of attorney and substitute decision making. Relatively few provided information about legal duties (e.g. powers and responsibilities of substitute decision makers) or resolving conflict with health practitioners. Accessibility (understandability and actionability) of resource content varied. Conclusions Although numerous resources on end-of-life law are available online, community members may not be able to identify relevant resources or find resource content accessible. What is known about the topic? Research on participation by patients in decision making about their treatment has focused primarily on medical rather than legal knowledge. What does this paper add? The present study investigated which online resources community members may access to inform themselves about the law on end-of-life decision making. The resources identified were analysed for ease of location and content accessibility. What are the implications for practitioners? Authors of online resources on end-of-life decision making should consider whether their resources can be: (1) identified by search terms used by the public; (2) understood by a general audience; and (3) readily used to promote reader action.

The initial development of an instrument to assess the psychosocial needs and unmet needs of young people who have a parent with cancer: piloting the offspring cancer needs instrument (OCNI).

PURPOSE: This study aimed to identify the psychosocial needs of young people (12-24 years) who have a parent with cancer and to assess whether these needs are being met. This paper also presented the initial steps in the development of a need-based measure-the Offspring Cancer Needs Instrument (OCNI). METHODS: Study 1 used qualitative methods to identify the needs of the target population, including a focus group (n = 6), telephone interviews (n = 8) and staff survey (n = 26). In study 2, a quantitative survey design was employed where 116 young people completed the 67-item OCNI and either the total difficulties score of the Strengths and Difficulties Questionnaire (SDQ-TD; 12-17-year-old) or Depression, Anxiety, Stress Scale-21 (DASS-21) (18-24-year-old). Tests of reliability (Cronbach's alpha) were used to assess the properties of each domain, where a level of 0.70 was deemed satisfactory as per scale guidelines. Construct validity was assessed by testing the proposed relationship between unmet needs and functioning where a coefficient of 0.03 was deemed satisfactory. RESULTS: The qualitative data yielded eight need domains (information, peer support, feelings, carer support, family, school/work environment, access to support and respite and recreation), which were subsequently used to inform the item content of the OCNI. The survey data revealed that 90% of young people endorsed 10 or more needs, and nearly a quarter indicated >50 needs. It was also found that these needs often go unmet: 87% of the participants had at least one unmet need, 43% reported >10 and just under a quarter had >20 unmet needs. The two highest reported unmet needs related to understanding from friends and assistance with concentrating and staying on task. The OCNI exhibited face and content validity and acceptable reliability for most of the domains. Cronbach's alpha ranged from 0.64 (access to support) to 0.92 (information). Preliminary construct validity was assessed through the hypothesised positive relationship between unmet needs and the SDQ-TD for 12-17-year-old participants (r = 0.33, p<0.001) and the DASS-21 for 18-24-year-old participants (depression, r = 0.77, p < 0.001; anxiety, r = 0.66, p < 0.001; stress: r = 0.56, p < 0.05). CONCLUSION: Young people (aged 12-24 years) who have a parent with cancer report a complex array of needs, many of which go unmet. The preliminary findings reported may be used to inform service providers in the development and evaluation of need-based programs to redress these unmet needs and thus ameliorate the effects of parental cancer. Services addressing information and school-based interventions are particularly pertinent given these current results.