Implementation considerations for risk-tailored cancer screening in the population: A scoping review.

BACKGROUND: Risk-tailored screening has emerged as a promising approach to optimise the balance of benefits and harms of existing population cancer screening programs. It tailors screening (e.g., eligibility, frequency, interval, test type) to individual risk rather than the current one-size-fits-all approach of most organised population screening programs. However, the implementation of risk-tailored cancer screening in the population is challenging as it requires a change of practice at multiple levels i.e., individual, provider, health system levels. This scoping review aims to synthesise current implementation considerations for risk-tailored cancer screening in the population, identifying barriers, facilitators, and associated implementation outcomes. METHODS: Relevant studies were identified via database searches up to February 2023. Results were synthesised using Tierney et al. (2020) guidance for evidence synthesis of implementation outcomes and a multilevel framework. RESULTS: Of 4138 titles identified, 74 studies met the inclusion criteria. Most studies in this review focused on the implementation outcomes of acceptability, feasibility, and appropriateness, reflecting the pre-implementation stage of most research to date. Only six studies included an implementation framework. The review identified consistent evidence that risk-tailored screening is largely acceptable across population groups, however reluctance to accept a reduction in screening frequency for low-risk informed by cultural norms, presents a major barrier. Limited studies were identified for cancer types other than breast cancer. CONCLUSIONS: Implementation strategies will need to address alternate models of delivery, education of health professionals, communication with the public, screening options for people at low risk of cancer, and inequity in outcomes across cancer types.

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.

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.

Acceptability and appropriateness of a risk-tailored organised melanoma screening program: Qualitative interviews with key informants.

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.

Investigating genomic medicine practice and perceptions amongst Australian non-genetics physicians to inform education and implementation.

Genomic medicine is being implemented on a global scale, requiring a genomic-competent health workforce. To inform education as part of implementation strategies to optimize adoption of genomics by non-genetics physicians, we investigated current practices, perceptions and preferences relating to genomic testing and education. Australian non-genetics physicians completed an online survey; we conducted univariate and multivariate analyses of determinants of confidence and engagement with genomic medicine. Confident or engaged respondents were more likely to be pediatricians, have completed continuing genomics education (CGE) and/or have genomics research experience. Confident or engaged respondents were also more likely to prefer to request genomic testing with support from genetics services than other models. Respondents who had completed CGE and were engaged reported higher confidence than those who were not engaged. We propose a progression of genomic competence aligned with service delivery models, where education is one enabler of mastery or independence to facilitate genomic tests (from referral to requesting with or without clinical genetics support). Workplace learning could provide additional impetus for adoption.

Human Genetics Society of Australasia Position Statement: Use of Polygenic Scores in Clinical Practice and Population Health.

Considerable progress continues to be made with regards to the value and use of disease associated polygenic scores (PGS). PGS aim to capture a person's genetic liability to a condition, disease, or a trait, combining information across many risk variants and incorporating their effect sizes. They are already available for clinicians and consumers to order in Australasia. However, debate is ongoing over the readiness of this information for integration into clinical practice and population health. This position statement provides the viewpoint of the Human Genetics Society of Australasia (HGSA) regarding the clinical application of disease-associated PGS in both individual patients and population health. The statement details how PGS are calculated, highlights their breadth of possible application, and examines their current challenges and limitations. We consider fundamental lessons from Mendelian genetics and their continuing relevance to PGS, while also acknowledging the distinct elements of PGS. Use of PGS in practice should be evidence based, and the evidence for the associated benefit, while rapidly emerging, remains limited. Given that clinicians and consumers can already order PGS, their current limitations and key issues warrant consideration. PGS can be developed for most complex conditions and traits and can be used across multiple clinical settings and for population health. The HGSA's view is that further evaluation, including regulatory, implementation and health system evaluation are required before PGS can be routinely implemented in the Australasian healthcare system.

Views of the Australian public on the delivery of risk-stratified cancer screening in the population: a qualitative study.

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.

Motivation is not enough: A qualitative study of lung cancer screening uptake in Australia to inform future implementation.

INTRODUCTION: Participation in lung cancer screening (LCS) trials and real-world programs is low, with many people at high-risk for lung cancer opting out of baseline screening after registering interest. We aimed to identify the potential drivers of participation in LCS in the Australian setting, to inform future implementation. METHODS: Semi-structured telephone interviews were conducted with individuals at high-risk of lung cancer who were eligible for screening and who had either participated ('screeners') or declined to participate ('decliners') in the International Lung Screening Trial from two Australian sites. Interview guide development was informed by the Precaution Adoption Process Model. Interviews were audio-recorded, transcribed and analysed using the COM-B model of behaviour to explore capability, opportunity and motivation related to screening behaviour. RESULTS: Thirty-nine participants were interviewed (25 screeners; 14 decliners). Motivation to participate in screening was high in both groups driven by the lived experience of lung cancer and a belief that screening is valuable, however decliners unlike their screening counterparts reported low self-efficacy. Decliners in our study reported challenges in capability including ability to attend and in knowledge and understanding. Decliners also reported challenges related to physical and social opportunity, in particular location as a barrier and lack of family support to attend screening. CONCLUSION: Our findings suggest that motivation alone may not be sufficient to change behaviour related to screening participation, unless capability and opportunity are also considered. Focusing strategies on barriers related to capability and opportunity such as online/telephone support, mobile screening programs and financial assistance for screeners may better enhance screening participation. Providing funding for clinicians to support individuals in decision-making and belief in self-efficacy may foster motivation. Targeting interventions that connect eligible individuals with the LCS program will be crucial for successful implementation.

General practitioners' views on genomics, practice and education: A qualitative interview study.

BACKGROUND AND OBJECTIVES: Genomics is moving rapidly into mainstream medicine through clinical genomic testing and consumer-initiated online DNA testing. The aim of this study was to identify Australian general practitioners' (GPs') views on genomics, impact on practice and educational needs to inform continuing education. METHOD: Semi-structured interviews were conducted, with constant comparative inductive analysis and governance from a national taskforce. RESULTS: Twenty-eight GPs (43% female) were interviewed; 71% worked in a metropolitan workplace. Most initially reported little experience with genetic/genomic tests but, when prompted, recognised encountering genomics, mainly non-invasive prenatal and single-gene tests. Many GPs referred patients for cancer screening to genetic services or specialists. GPs reported needing continuing education and resources, with preferences underpinned by relevance to practice. DISCUSSION: GPs are integrating genomic testing into care, mainly through prenatal screening, and anticipate further impact. They want diverse and context-dependent education but are unaware of some available resources, such as The Royal Australian College of General Practitioners' Genomics in general practice guideline.

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.

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.

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).

PURPOSE: Widespread, quality genomics education for health professionals is required to create a competent genomic workforce. A lack of standards for reporting genomics education and evaluation limits the evidence base for replication and comparison. We therefore undertook a consensus process to develop a recommended minimum set of information to support consistent reporting of design, development, delivery, and evaluation of genomics education interventions. METHODS: Draft standards were derived from literature (25 items from 21 publications). Thirty-six international experts were purposively recruited for three rounds of a modified Delphi process to reach consensus on relevance, clarity, comprehensiveness, utility, and design. RESULTS: The final standards include 18 items relating to development and delivery of genomics education interventions, 12 relating to evaluation, and 1 on stakeholder engagement. CONCLUSION: These Reporting Item Standards for Education and its Evaluation in Genomics (RISE2 Genomics) are intended to be widely applicable across settings and health professions. Their use by those involved in reporting genomics education interventions and evaluation, as well as adoption by journals and policy makers as the expected standard, will support greater transparency, consistency, and comprehensiveness of reporting. Consequently, the genomics education evidence base will be more robust, enabling high-quality education and evaluation across diverse settings.

Human Genetics Society of Australasia Position Statement: Online DNA Testing.

Increasingly, consumers have been able to seek DNA testing online to explore their personal genetic information. This increased access to a range of genomic tests has raised concerns among health professionals tasked with providing guidance and support to patients requiring genetic/genomic testing. Individuals will seek genomic testing for a range of purposes; equally, the medical marketplace offers a range of different test types. The Human Genetics Society of Australasia (HGSA) published their first statement on Direct to Consumer Genetic Testing (2012 PS02). This is a revised statement, which considers developments in the field of online DNA testing, including rapid technological changes, diversity of applications and decreasing costs of testing. It draws from the first empirical nationwide study (Genioz - Genomics: National Insights of Australians) and insights from consumers with experience of this technology. The rapid adoption of these tests and the broad range of potential consequences have informed perspectives within this statement. It is the position of the HGSA that both individuals/consumers and health care professionals/providers should be supported to make informed choices about online DNA testing. This means adequate and ongoing education and resources should be available for individuals/consumers and health care professionals/providers before, during and after testing. Health care professionals/providers should be appropriately trained, have relevant experience and should be able to demonstrate (or provide evidence of) a current certification in their field of practice. This statement was ratified at the 2018 HGSA Council Meeting and was recently reviewed in 2019 for consistency with other HGSA position statements.

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.

Disclosure to genetic relatives without consent - Australian genetic professionals' awareness of the health privacy law.

BACKGROUND: When a genetic mutation is identified in a family member (proband), internationally, it is usually the proband's or another responsible family member's role to disclose the information to at-risk relatives. However, both active and passive non-disclosure in families occurs: choosing not to communicate the information or failing to communicate the information despite intention to do so, respectively. The ethical obligations to prevent harm to at-risk relatives and promote the duty of care by genetic health professionals (GHPs) is in conflict with Privacy laws and professional regulations that prohibits disclosure of information to a third party without the consent of the proband (duty of confidentiality). In New South Wales (NSW), Australia, amendments to Privacy legislation permits such disclosure to living genetic relatives with the process defined under guidelines although there is no legal duty to warn. This study assessed NSW GHP's awareness and experience of the legislation and guidelines. METHODS: An online survey collected demographics; theoretical knowledge; clinical scenarios to assess application knowledge; attitudes; confidence; experience with active non-disclosure. A link to correct answers was provided after completion. Knowledge scores above the median for non-parametric data or above the mean for parametric data were classified as 'good' or 'poor'. Chi square tests assessed associations between confidence and knowledge scores. RESULTS: While many of the 37 participants reported reading the guidelines, there was limited awareness of their scope and clinical application; that there is no legal duty to warn; and that the threat does not need to be imminent to warrant disclosure. No association between confidence and 'good' theoretical or applied clinical knowledge was identified. Uncertainty of their professional responsibility was identified and in the several case examples of active non-disclosure that were reported this uncertainty reflected the need for further understanding of the guidelines in regard to the processes required before disclosure was initiated. CONCLUSIONS: There is a need for further education and training about the guidelines associated with the legislation that would be relevant to support disclosure. The findings may inform future strategies to support introduction of policy changes in other jurisdictions where similar regulatory regimes are introduced.

Scoping the Scene: What Do Nurses, Midwives, and Allied Health Professionals Need and Want to Know About Genomics?

Introduction: Rapid changes in genomic technology are transforming healthcare delivery. Although it has been well established that many health professionals lack the adequate knowledge, skills, and confidence to adapt to these changes, the specific educational needs of Australian allied health professionals, nurses, and midwives are not well understood. This diverse group of health professionals is primarily involved in the management of symptoms and psychosocial care of patients with genetic conditions, rather than risk assessment and diagnosis. The relevance of genetics and genomics to their clinical practice may therefore differ from medical practitioners and specialists. Materials and Methods: This paper reports on a study undertaken to identify the perceived genetic knowledge and education needs for this group of health professionals. Allied health professionals, nurses, and midwives were recruited from throughout New South Wales (NSW) and invited to participate in semi-structured telephone or face to face interviews. Results: A total of 24 geographically and professionally diverse individuals (14 allied health, 6 nurses, and 4 midwives) were interviewed. Interview recordings were transcribed and using thematic qualitative analysis recurring themes were identified. The results show that this is a diverse group that is keen to know more about genomics and genetic services but unsure of reliable sources. Discussion: The need for a generic update from a trustworthy source was identified and suggested topics to be covered included genetic fundamentals, recognizing common genetic conditions, and psychosocial/ethical aspects of genetics/testing including informed consent. In addition, the challenge of incorporating education into highly clinical roles was identified as a key barrier and having a readily accessible, accredited learning resource would help overcome this. Findings from this study are informing the development of a targeted, interactive e-learning resource for allied health professionals, nurses, and midwives.

Cancer screening in Australia: future directions in melanoma, Lynch syndrome, and liver, lung and prostate cancers.

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.

GP attitudes to and expectations for providing personal genomic risk information to the public: a qualitative study.

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.

Readiness of clinical genetic healthcare professionals to provide genomic medicine: An Australian census.

We aimed to determine capacity and readiness of Australian clinical genetic healthcare professionals to provide genomic medicine. An online survey was administered to individuals with genetic counseling or clinical genetics qualifications in Australia. Data collected included: education, certification, continuing professional development (CPD), employment, and genetic versus genomic clinical practice. Of the estimated 630 clinical genetic healthcare professionals in Australia, 354 completed the survey (56.2% response rate). Explanatory interviews were conducted with 5.5% of the genetic counselor respondents. Those working clinically reported being involved in aspects of whole exome or genome sequencing (48.6% genetic counselors, 88.6% clinical geneticists). Most genetic counselors (74.2%) and clinical geneticists (87.0%) had attended genomics CPD in the last two years, with 61.0% and 39.1% self-funding, respectively. Genetic counselors desire broad involvement in genomics, including understanding classifying and interpreting results to better counsel patients. The majority of respondents (89.9%) were satisfied with their job and 91.6% planned to work in genetics until retirement. However, 14.1% of the genetic counselors in clinical roles and 24.6% of the clinical geneticists planned to retire within 10 years. This is the first national audit of clinical genetic healthcare professionals, revealing the Australian workforce is motivated and prepared to embrace new models to deliver genomic medicine but consideration of education and training is required to meet demand.