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Interventions to assist family communication about inherited cancer risk have the potential to improve family cancer outcomes. This review aimed to evaluate the efficacy of proband-mediated interventions employed within genetics clinics to increase disclosure of genetic risk to at-risk relatives. MEDLINE, Embase, CINAHL, PubMed and PsycINFO were searched for publications between 1990–2020. The quality of studies was assessed. From 5605 records reviewed, 9 studies (4 randomised control trials and 5 cohort studies) were included involving families with BRCA1, BRCA2 and Lynch syndrome. Intervention delivery modes included genetic counselling with additional telephone or in-person follow-up, letters, videos, and decision aids. The percentages of at-risk relatives informed by the proband about their risk ranged from 54.0% to 95.5% in the intervention or family-mediated comparison group. Of those who were informed, 24.4–60.0% contacted a genetics clinic and 22.8–76.2% had genetic testing after they were counselled at a genetics clinic. Significant differences between intervention and control group were reported on all three outcomes by one study, and with relatives contacting a genetics clinic by another study. The studies suggest but do not conclusively show, that tailored genetic counselling with additional follow-up can increase both the proportion of informed relatives and relatives who contact the genetics clinic. With the increase in germline testing, interventions are required to consider the family communication process and address post-disclosure variables (e.g., relative’s perceptions, emotional reactions) through engagement with probands and relatives to maximise the public health benefit of identifying inherited cancer risk in families.

Germline genetic testing is an increasingly important component of treatment decision-making for clinicians and patients with breast cancer. To address increased demand and expedite access to genetic testing for these patients, the Parkville Familial Cancer Centre (PFCC) in Victoria, Australia, implemented a breast mainstream genetic testing program. The program educates and supports breast cancer specialists to provide eligible patients with pre-test information, gain consent, and arrange genetic testing during their routine cancer appointments. This study aimed to explore breast cancer specialists’ experiences and opinions of the education program and of facilitating mainstream genetic testing for their patients. Specialists who had attended the mainstream genetic testing education were invited to complete an online survey about the training provided through the education program and their experience of deploying mainstream genetic testing in their practice. Descriptive statistics were compiled, and content analysis used for open text responses. Forty-five breast cancer specialists (breast surgeons, medical oncologists, radiation oncologists and breast care nurses) responded (45% response rate). Most participants had discussed (87%) and consented (80%) patients for mainstream genetic testing. Most specialists (81%) rated their confidence levels as high or very high for consenting patients to mainstream genetic testing. The majority (89%) indicated that they believed mainstream genetic testing should be part of their role and felt well supported by the PFCC (90%). This research demonstrates that the breast cancer specialists were satisfied by the education they received and the PFCC has successfully integrated mainstream genetic testing for breast cancer patients.

Genetic counseling plays a critical role in supporting individuals and their families' adaption to psychiatric conditions, addressing the multifactorial nature of these conditions in a personally meaningful and empowering way. Yet data related to the practice and attitudes of Australian genetic counselors about psychiatric genetic counseling (PGC) is limited. This survey investigated the practice of Australian genetic counselors, and their attitudes toward PGC. Genetic counselors (N = 393) were invited to participate in an anonymous online survey between March and May 2022. Forty-four genetic counselors (response rate = 11%) from Australia and New Zealand responded. No respondents practice in psychiatric genetics as their speciality area; most respondents do not see any patients where the primary indication is a personal and/or family history of psychiatric disorders (91%). Greater than half of respondents (56%) believed there was sufficient evidence to support PGC, and 64% enquire about personal and/or family history of psychiatric disorders, but only 25% provide genetic counseling on this topic. Most respondents do not feel confident providing risk assessments for psychiatric disorders (72%), while the majority expressed interest in attending specialist training (95%), and in incorporating PGC into future practice (77%). Australian genetic counselors would benefit from psychiatric genetic education and training, and establishment of specialized PGC services would address this gap in patient care, while providing opportunities for genetic counselors to gain skills and experience in PGC.

BACKGROUND AND OBJECTIVES: Discussing population-based cancer risk and screening is common in general practice. Patients with an inherited cancer syndrome, however, may need more nuanced discussions. Li-Fraumeni syndrome (LFS) is a rare, inherited cancer syndrome that affects many organ systems from birth and requires intensive, whole-body cancer risk management. The aim of this study was to explore the risk management experiences of young people (aged 15-39 years) with, or at risk of, LFS. METHOD: Using an interpretive description design, semi-structured interviews were conducted with young people diagnosed with, or at risk of, LFS from across Australia. Interview transcripts were analysed with team-based, codebook thematic analysis. RESULTS: Thirty young people (mean age 25.5 years) participated. Participants described intensive screening and risk-reducing mastectomy (for women) as their 'best shot' to control their cancer risks with LFS. Engaging in these options as a young person came with a slew of psychosocial implications. DISCUSSION: General practitioners may help to improve care for young people with inherited cancer syndromes by acknowledging the benefits and complex burdens of their risk management.

The most effective option for gastric cancer risk management in individuals with a CDH1 germline pathogenic or likely pathogenic variant (PV) in Australia is prophylactic total gastrectomy (PTG). There is, however, increasing confidence in endoscopic surveillance as a risk management strategy thus affording individuals with a CDH1 PV with challenging decisions regarding their gastric cancer risk management. For young people, this decision-making comes at a complex development stage of emerging and young adulthood. This study aims to explore the factors that influence young people's decision-making about their gastric cancer risk management due to a CDH1 PV. Potential participants were identified and approached through the Parkville Familial Cancer Centre in Melbourne, Australia. Thematic analysis was used to interpret and analyze the data. Qualitative interviews were conducted with 13 people with a CDH1 PV aged 18 to 39 years, inclusive. The interviews found that participants' familial and shared experiences of cancer and risk management, perceived tolerance of uncertainty, and desire for control over their cancer risk were fundamental in their decision-making about their gastric cancer risk management. The participants' young adult life stage was also deemed particularly important in decisions about the timing of PTG. The findings of this study are vital to inform decisional counseling discussions with this unique population.

This study explored the experiences of young people with hereditary diffuse gastric cancer (HDGC), an inherited cancer predisposition syndrome, as they navigate becoming and being a parent.We used interpretive description and conducted semi-structured interviews with 13 young Australians (18-39 years) with aParticipants' reproductive decisions centered on the perceived manageability of HDGC, namely via gastrectomy, and timing of their genetic testing. Participants yet to have children and those with challenging gastrectomy experiences favored using reproductive technologies to prevent passing on their PV. Parents who had children before genetic testing described complicated decisions about having more children. Gastrectomy was considered a parental responsibility but recovery diminished parenting abilities.Young people with HDGC face unique challenges navigating reproductive decision-making and parenting with gastrectomy. Findings lend credence to calls for longitudinal, developmentally sensitive genetic counseling services.

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.

This study explored the genetic testing experiences of adolescents and young adults (AYAs; aged 15-39 years) with, or at 50% risk of, an early onset cancer predisposition syndrome: Li-Fraumeni syndrome (LFS).We used interpretive description and conducted semi-structured interviews with 30 AYAs (mean age 25.5 years): 26 with LFS and four at 50% risk. Findings were developed using team-based, inductive thematic analysis.Participants reported genetic testing uptake to reduce uncertainty about their gene status and to access cancer risk management. Learning their gene status, however, introduced a new uncertainty about living with high multi-organ cancer risk. Participants preoccupied with surviving cancer during diagnostic testing underestimated the implications of LFS. Reliance on family at this life stage complicated decision-making for genetic testing, especially among adolescents.AYAs undergoing genetic testing for LFS have unique support needs based on their life stage and require developmentally appropriate psychosocial care.

Interventions to assist family communication about inherited cancer risk have the potential to improve family cancer outcomes. This review aimed to evaluate the efficacy of proband-mediated interventions employed within genetics clinics to increase disclosure of genetic risk to at-risk relatives. MEDLINE, Embase, CINAHL, PubMed and PsycINFO were searched for publications between 1990-2020. The quality of studies was assessed. From 5605 records reviewed, 9 studies (4 randomised control trials and 5 cohort studies) were included involving families with BRCA1, BRCA2 and Lynch syndrome. Intervention delivery modes included genetic counselling with additional telephone or in-person follow-up, letters, videos, and decision aids. The percentages of at-risk relatives informed by the proband about their risk ranged from 54.0% to 95.5% in the intervention or family-mediated comparison group. Of those who were informed, 24.4-60.0% contacted a genetics clinic and 22.8-76.2% had genetic testing after they were counselled at a genetics clinic. Significant differences between intervention and control group were reported on all three outcomes by one study, and with relatives contacting a genetics clinic by another study. The studies suggest but do not conclusively show, that tailored genetic counselling with additional follow-up can increase both the proportion of informed relatives and relatives who contact the genetics clinic. With the increase in germline testing, interventions are required to consider the family communication process and address post-disclosure variables (e.g., relative's perceptions, emotional reactions) through engagement with probands and relatives to maximise the public health benefit of identifying inherited cancer risk in families.

The reproductive decision-making of young people (aged 15–39 years) with Li-Fraumeni syndrome (LFS), an early onset inherited cancer syndrome, has not been studied in depth. Using interpretive description methodology, we conducted semi-structured interviews with 30 young Australians (mean age 25.5 years) diagnosed with LFS or at 50% genetic risk. With reflexive thematic analysis, we show how young people’s reproductive decision-making and ideals for family formation were shaped by a sense of genetic responsibility to ensure the health of future biological kin. Reproductive technology provided choices for family formation in the context of LFS and also complicated reproductive decisions, as these choices were difficult to understand, make, or carry out. We uphold that reproductive decision-making when living with LFS is a profoundly moral practice that may pose significant challenges for young people navigating their formative years. We offer genetic counseling practice recommendations to support individuals with LFS when making reproductive decisions.

Increasing demand for clinical genetic services may impact the resources and quality of genetic counseling, potentially impacting patient outcomes. Using a psychosocial screening tool may aid the provision of genetic counseling by reliably identifying patients' psychosocial needs. The Genetic Psychosocial Risk Instrument (GPRI) is a validated genetic-specific screening tool designed to identify psychological risk factors that predict distress in patients having genetic testing. This questionnaire-based study investigated the perceived acceptability, feasibility, and usefulness of the GPRI in patients and clinicians in routine clinical genetic practice. From December 2018 to January 2019, 154 patients attending an Australian clinical genetic service were invited to complete a paper-based survey that included the GPRI. The GPRI was scored and provided to the clinician for use in the appointment. In February 2019, clinicians completed an anonymous online survey regarding acceptability, feasibility, and usefulness of the GPRI. Descriptive statistics, chi-squared, t tests, and regression analyses were used to analyze the patient data, and descriptive statistics were employed for clinician surveys. A total of 145 patients participated (94% response rate). The average GPRI score was 46.3 (95% CI 43.6-49.0) with 41% of patients meeting the 50-point threshold indicating high risk for psychological distress. The GPRI was highly acceptable to patients, regardless of their level of psychosocial risk. Fourteen clinicians participated (54% response rate): 85% found the GPRI not too time consuming, and 86% believed it improved patient care by identifying patient needs. All were willing to use the GPRI routinely. The use of the GPRI is highly acceptable to patients and clinicians in this setting, assisting in identifying patients at risk for distress, prompting clinicians to address concerns, provide psychosocial support, and consider ongoing referral. As 41% of patients' scores indicated a high risk of distress, the GPRI is an important tool for potentially enhancing overall patient outcomes.

Systemic healthcare issues and geographical challenges restrict women's access to BRCA1/2 testing to inform the use of tailored treatments for high-grade serous ovarian cancer. Consequently, BRCA1/2 testing in this population is low and improved testing pathways are urgently needed. This study aimed to determine the acceptability and feasibility of telephone genetic counselling (TGC) to facilitate treatment-focused BRCA1/2 testing in Australia for women with high-grade serous ovarian cancer. Women who received TGC were invited to complete a survey examining their experiences of the service. A cost analysis was conducted to compare the service to standard, in-person genetic counselling. One hundred and seven women responded (48% response rate); 8 had a BRCA1/2 variant affecting function. Geographical barriers prevented women from accessing genetic services in the past. All participants had a positive attitude towards testing, and regret following testing was minimal. While the impact of testing was greater for those with a positive test result, overall, genetic testing did not put the additional psychosocial burden on the participants. Participant's evaluations of the telephone interactions with the genetic counsellors were highly satisfactory. The service was also found to be cost-effective. This model of telephone genetic counselling was an acceptable and effective way to reduce barriers to BRCA1/2 testing for women with ovarian cancer.

Background: CASCADE is a successful, Australia-first cancer rapid autopsy programme. Patients are recruited to the programme by their clinician once they understand that further treatment has only palliative intent. Despite its value, rapid autopsy is a rare research method owing partly to recruitment challenges. Aim: This research aimed to explore (1) how, in practice, clinicians select and recruit patients to the programme and (2) patient experiences of this process. Design: This was a qualitative study grounded in phenomenology. CASCADE team members (clinicians and researchers) and patients participated in semi-structured interviews. Data were analysed using an inductive, team-based approach to thematic analysis. Participants: Interviews were conducted with 31 participants (11 patients and 20 CASCADE team members). Results: Patient selection and recruitment to a rapid autopsy programme is both an art and science. In practice, patient selection is a subjective process that involves assessing a patient’s psychosocial suitability for the programme. Trust and rapport are necessary for informing this assessment and to create an environment conducive to discussing rapid autopsy. Clinicians have also crafted their own ways of delivering information about CASCADE, with both clinicians and patients acknowledging that, if not handled sensitively, recruitment could cause distress. Overall, patients were satisfied with the way in which they were recruited. Conclusion: Findings provide insight into how clinicians successfully select and recruit patients to a rapid autopsy programme and suggests that discussing such topics are acceptable to end-of-life patients. This research also raises thought-provoking questions about the ‘gatekeeping’ role of clinicians in recruitment.

Poly ADP ribose polymerase (PARP) inhibitors offer a survival advantage to women with high-grade serous ovarian cancer who have a germline BRCA1/2 pathogenic variant (PV). Yet, rates of genetic testing among this population have remained persistently low. A national, centralized telephone genetic counseling service was established in January 2016 in Australia to improve access to genetic services and facilitate BRCA1/2 testing for this population to inform treatment. Medical oncologists can refer their patients with high-grade serous ovarian cancer to this service for genetic testing. This study aimed to explore oncologists’ experiences of using this telephone genetic counseling service for their patients with high-grade serous ovarian cancer. A qualitative approach using semi-structured telephone interviews was undertaken with Australian oncologists who had referred patients to the telephone genetic counseling service. Sixteen oncologists participated and described referring patients to the telephone genetic counseling service due to the timeliness of obtaining a genetic counseling appointment and BRCA1/2 test results. They also reported this service offered convenience for patients living in regional or rural areas who then did not have to travel for an appointment with a clinical genetics service. Many oncologists noted the importance of in-person genetic counseling for patients who received positive BRCA1/2 results. Areas for improvement identified by the oncologists related to communication issues between the service and the patient. Overall, findings suggest that oncologists perceived telephone genetic counseling as an acceptable and useful healthcare service for patients with high-grade serous ovarian cancer. Moreover, they perceived telephone genetic counseling to be efficient, delivering convenient genetic counseling to patients.

Objective Tamoxifen has been demonstrated to reduce breast cancer risk in high-risk, premenopausal women. Yet, very few young women with hereditary breast and ovarian cancer syndrome in Australia use tamoxifen, despite this being a less-invasive option compared to risk-reducing mastectomy. This study aims to examine young women's decision-making about and experience of taking tamoxifen to reduce their breast cancer risk. Methods Young women with a BRCA1/2 mutation participated in semi-structured qualitative interviews, recruited mainly from a metropolitan clinical genetics service. Data were analysed using an inductive, team-based approach to thematic analysis. Results Forty interviews with women aged 20-40 years with a BRCA1/2 mutation were conducted. Eleven women could not recall discussing tamoxifen with their healthcare provider or were too young to commence cancer risk management. Twenty-three women chose not to use tamoxifen because it is contraindicated for pregnancy or because it did not offer immediate and great enough risk reduction compared to bilateral risk-reducing mastectomy. Six women who were definite about not wanting to have children during the following 5-year period chose to use tamoxifen, and most experienced none or transient side effects. Conclusions Decision-making about tamoxifen was nuanced and informed by considerations characteristic of young adulthood, especially childbearing. Therefore, clinical discussions about tamoxifen with young women with a BRCA1/2 mutation must include consideration of their reproductive plans.

Pierre Robin sequence (PRS) is a craniofacial abnormality comprising micrognathia, glossoptosis and airway obstruction, which can impair the newborn's feeding and breathing. While there has been much research around the cause of PRS and most appropriate methods of care, understanding the psychosocial aspects of a PRS diagnosis from the parents' perspective is lacking. The aim of this study is to understand parental experiences of having a child diagnosed with PRS, as well as the role of genetic counselling in PRS. Fourteen semi-structured interviews were conducted with parents of children diagnosed with isolated PRS between 2 and 5 years prior. From these 14 interviews, eleven transcripts were analysed to find common themes and experiences. The diagnosis was confusing and overwhelming for participants during emotionally sensitive periods and little was understood about the cause of their child's PRS. Those participants who did recall experiences with genetic services reported that they were minimal and uninformative. According to participant recollection, genetic counselling was rarely offered, despite there being a potential for this service in PRS. Genetic counselling would be a valuable source of information and support for parents both at the time of antenatal diagnosis, and potentially 6 to 12 months later in the outpatient environment when these children are all routinely reviewed by their clinical care team.

Li-Fraumeni syndrome (LFS), a rare cancer syndrome caused by pathogenic germline variants in TP53, has serious implications for adolescents and young adults (AYAs; aged 15-39 years). The early-onset and multi-organ cancer risk associated with LFS means health professionals must concurrently contend with the developmental needs of individuals who are diagnosed from a young age, and recent changes in practice due to advances in whole-body cancer surveillance. To help understand how current practice meets the developmental needs of AYAs with, or at risk of, LFS, we conducted a national online survey to explore the experiences of health professionals who care for this population in Australia and New Zealand. Forty-three respondents completed the survey (56% genetic counselors), one-third of whom had facilitated predictive TP53 testing for minors (n = 14/43, 33%). In hypothetical scenarios describing 15-year-olds eligible for predictive TP53 testing, respondents were more supportive of testing for emotionally mature compared to immature minors (p = .009); and more supportive of adolescent wishes compared to parental wishes for testing (p = .020) when families held discordant views on testing. Genetic health professionals were more likely than oncology health professionals to address psychological (p = .017) and information needs about reproductive options for LFS during consultations than to refer them on (p = .004). All respondents supported comprehensive risk management for LFS, but noted important medical, logistical, and psychosocial limitations for AYAs. This study offers valuable insight into developmentally appropriate practices of Australasian health professionals who care for AYAs with, or at risk of, LFS. These findings suggest they may foster the autonomy of minors undergoing predictive TP53 genetic testing and be supportive of new whole-body risk management guidelines.

Genetic sequencing, resulting in the identification of pathogenic germline mutations conferring significantly increased cancer risk, has become de rigueur for research studies with access to populations with and without personal and family histories of cancer. Genetic technology is now more efficient and affordable, and evidence has amassed of the pathogenicity of identified gene mutations. Debate continues about the benefits and harms of returning research results. Benefits include the clinical and personal utility of the genetic information and the potential for treatment or prevention. An example is cancer genetics, where efficacious cancer risk-management strategies known to reduce cancer-related morbidity and mortality are available to individuals who carry a high-risk germline mutation. Harms include psychological distress, perceived patient discrimination and stigmatization, and erroneous results as a result of research laboratories’ not being required to adhere to the Clinical Laboratory Improvement Amendments standards and regulations. The notion of “therapeutic misconception” has also been cited as a risk to participants. This theory describes participants’misunderstanding about the boundaries between research and clinical domains, where participants assume that a research study will provide clinical benefit. Current opinion proposes that researchers have an ethical duty to return individual genetic research results subject to the existence of proof of validity, significance, and benefit. Therefore, attention needs to be focused on how the information should be communicated so participants can make an informed decision about whether they wish to receive their genetic research results. Australia offers a valuable perspective on this issue because of the evolving methods used to return results and the availability of data regarding participants’ experiences and actions. The predominant method of notification in Australia has involved sending consenting participants a letter informing them that genetic information has been identified by the research study. Participants who wished to act upon the letter could contact a familial cancer center (FCC) for genetic counseling and potential confirmation through clinical genetic testing. Australian FCCs are funded by the health system, theoretically making them more readily accessible to research participants. This method was purposefully chosen as a sensitive way to approach participants and breaking to them what was often unexpected news and to optimize their independent decision making about whether to pursue their genetic information. Furthermore, participants’ privacy was maintained by not being contacted directly by the research team, and this lack of contact also reduced the capacity for therapeutic misconception. The content of the notification letters tended to be fairly uniform across different studies, with each study contextualizing the letter according to the inherited cancer syndrome under examination. However, as exploratory qualitative research findings emerged that demonstrated chiefly that participants did not understand or value the letter, the strength and clarity of the wording in the letter has increased. The wording has changed from “the research has identified information that may have relevance for you and your family” to “our research has identified information relevant to your family. This means a genetic change has been found in your family which may account for the family’s experience of cancer” (Australian Ovarian Cancer Study [AOCS] notification letter, October 2007). The uptake rate of confirmatory genetic testing postnotification offers one perspective of examining outcomes resulting from sending these notification letters to participants. Four Australian studies have published uptake rates of confirmatory genetic testing by participants who have received a notification letter. In three of these studies—the Australian Breast Cancer Family Study, the Kathleen Cuningham Foundation Consortium for Research into Familial Aspects of Breast Cancer, and the AOCS—the percentage of participants who received a notification letter and had confirmatory genetic testing ranged from 8% to 49%. Slightly more participants (56%) enrolled in the Australian site of the multinational Colon Cancer Family Registry (CFR) confirmed their mismatch-repair-gene mutation status through confirmatory genetic testing. A consistent outcome of notifying participants by letter of the availability of genetic information, regardless of the wording, is that, in most Australian studies, more than half of the participants did not act upon the letter. It was unknown whether these

Individualized screening is our logical next step to improve population breast cancer screening in Australia. To explore breast screening participants' views of the current program in Victoria, Australia, examine their openness to change, and attitudes toward an individualized screening model, this qualitative work was performed from a population-based breast screening cohort. This work was designed to inform the development of a decision aid to facilitate women's decisions about participating in individualized screening, and to elicit Australian consumer perspectives on the international movement toward individualized breast screening. A total of 52 women participated in one of four focus groups, and were experienced with screening with 90% of participants having had more than three mammograms. Focus group discussion was facilitated following three main themes: (i) experience of breast screening; (ii) breast cancer risk perception, and (iii) views on individualized screening. Participants had strong, positive, emotional ties to breast screening in its current structure but were supportive, with some reservations, of the idea of individualized screening. There was good understanding about the factors contributing to personalized risk and a wide range of opinions about the inclusion of genetic testing with genetic testing being considered a foreign and evolving domain. Individualized breast screening that takes account of risk factors such as mammographic density, lifestyle, and genetic factors would be acceptable to a population of women who are invested in the current system. The communication and implementation of a new program would be critical to its acceptance and potential success. Reservations may be had in regards to uptake of genetic testing, motivations behind the change, and management of the women allocated to a lower risk category.

The practice of recontacting patients to provide new health information is becoming increasingly common in clinical genetics, despite the limited research to evidence the patient experience. We explored how men with Lynch Syndrome (LS) understand and experience being recontacted about a potential increased risk of prostate cancer. Sixteen men with LS (Meanage 51 years) were recruited from an Australian screening study to undergo a semi-structured interview. A modified grounded theory approach was used to guide data collection and thematic analysis. Qualitative coding was shared by the research team to triangulate analysis. The practice of recontact was viewed by participants as acceptable and was associated with minimal emotional distress. The majority of men understood that they may be above population risk of prostate cancer, although evidence was still emerging. Men reported high engagement with personal and familial health, including regular screening practices and familial risk communication. Findings suggest that men's carrier status and beliefs about the actionability of the new cancer risk information influence their response to recontact. Recontact practices that include the offer of risk management strategies may lead to improved patient outcomes (e.g., reduced cancer worry and increased health engagement), if perceived as valuable by recipients.

Aim: To compare Australian and French perceptions of genetics and preferences regarding the return of incidental findings. Methods: Participants from the International Sarcoma Kindred Study received a survey at intake to cancer referral units. A total of 1442 Australian and 479 French individuals affected by sarcoma and their unaffected family members responded to four hypothetical scenarios depicting hereditary conditions of varying treatability and severity. Results: Australians’ preference for the return of incidental findings was consistently higher than French for all scenarios. Country group differences were significant for two scenarios when individual characteristics were controlled through multivariable analyses. Conclusion: Findings support the need for guidelines that are sensitive to sociocultural context and promote autonomous decision-making.

Evidence is accumulating of the clinical utility of single nucleotide polymorphisms to effectively stratify risk of breast cancer. Yet for this personalized polygenic information to be translated to clinical practice, consideration is needed about how this personalized risk information should be communicated and the impact on risk perception. This study examined the psychosocial implications and the impact on risk perception of communicating personalized polygenic breast cancer risk to high-risk women. High-risk women with a personal history of breast cancer and an uninformative BRCA1/2 result were genotyped in the Variants in Practice study for 22 breast cancer single nucleotide polymorphisms. Participants in the highest quartile of polygenic breast cancer risk were invited to receive their individual research results. Two personalized visual risk communication tools were used to facilitate communication of the polygenic information. Participants subsequently undertook a semi-structured interview examining their experience of receiving their polygenic breast cancer risk and their breast cancer risk perception. Thirty-nine women opted to receive their results and were interviewed. The women described the risk communication tools as helpful as the tool enabled comparison of their personalized breast cancer risk to the general population. Participants incorporated the polygenic risk information into their breast cancer risk perception, which for some reawakened feelings of being at risk years after an uninformative BRCA1/2 result. However, few reported any detrimental emotional impact. The delivery of personalized polygenic breast cancer risk to high-risk women informed and modified their breast cancer risk perception with little emotional impact.

The genetic nature of an inherited cardiac condition (ICC) places first- and second-degree relatives at risk of cardiac complications and sudden death, even in the absence of symptoms. Communication of cardiac genetic risk information allows at-risk relatives to clarify, manage, and potentially prevent ICC-associated risks through cardiac screening. Literature regarding family communication of genetic risk information are predominantly based on Western populations, with limited insight into the Asian experience. This qualitative exploratory study provides a male perspective into the communication of ICC risks within families in Singapore. Eight male participants with clinically diagnosed cardiomyopathy, who had all received genetic counseling, were recruited. A phenomenological perspective was used to identify emergent themes from semi-structured interviews. In this study, most participants recalled their healthcare professional’s emphasis on family communication. Notably, participants revealed that at-risk relatives were not accessing screening, and many described family members as currently asymptomatic and “healthy.” These findings coincide with documented Asian beliefs regarding perceptions of health, which have important implications for the provision of genetic counseling support within Asian communities, especially in facilitating family communication such that at-risk relatives are informed about their ICC risks and available management options.

Clinical genetics units hold large amounts of information which could be utilised to benefit patients and their families. In Australia, a national research database, the Inherited Cancer Connect (ICCon) database, is being established that comprises clinical genetic data held for all carriers of mutations in cancer predisposition genes. Consumer input was sought to establish the acceptability of the inclusion of clinical genetic data into a research database. A qualitative approach using a modified nominal group technique was used to collect data through consumer forums conducted in three Australian states. Individuals who had previously received care from Familial Cancer Centres were invited to participate. Twenty-four consumers participated in three forums. Participants expressed positive attitudes about the establishment of the ICCon database, which were informed by the perceived benefits of the database including improved health outcomes for individuals with inherited cancer syndromes. Most participants were comfortable to waive consent for their clinical information to be included in the research database in a de-identified format. As major stakeholders, consumers have an integral role in contributing to the development and conduct of the ICCon database. As an initial step in the development of the ICCon database, the forums demonstrated consumers’ acceptance of important aspects of the database including waiver of consent.

Population-based genetic research may produce information that has clinical implications for participants and their family. Researchers notify participants or their next of kin (NoK) about the availability of genetic information via a notification letter; however, many subsequently do not contact a family cancer centre (FCC) to clarify their genetic status. Therefore, the purpose of this study was to examine research participants' experience of receiving a notification letter and the factors that influenced contact with an FCC. Twenty-five semi-structured interviews were conducted with research participants (n=10) or their NoK (n=15) who had received a notification letter following participation in the Australian Ovarian Cancer Study. There were a number of factors which impacted participants' access to genetic counselling at an FCC. Some participants had unmet information and support needs, which were addressed by their participation in this psychosocial interview study. Recruitment and participation in this study therefore inadvertently increased a number of participants' intention to contact an FCC. For others, participation in this study facilitated access to an FCC. Recommendations are proposed regarding future notification as well as implications for clinical practice. An approach that also provides opportunity to address research participants' support and informational needs before contacting a clinical genetics service as well as practical guidance for accessing genetic services would facilitate timely and smooth access for research participants who are interested in following up clinically relevant genetic test results.

International evidence indicates that nurses working in primary care can provide effective care and achieve positive health outcomes for patients similar to that provided by doctors. Nurse practitioners employed in primary health care perform some tasks previously exclusive to the GP role due to their advanced skills, knowledge and training. In November 2010 Medicare provider rights and Pharmaceutical Benefits Scheme rights were provided for nurse practitioners working in private practice, and in collaboration with a medical practitioner. However, there is limited evidence about how acceptable nurse practitioners are to Australian consumers and what knowledge consumers have of the nurse practitioner role in the delivery of primary health care. The aim of this study was to examine Australian health care consumers' perceptions of nurse practitioners working in primary health care. This paper reports on the results of seven focus groups (n = 77 participants) conducted around Australia. Focus groups participants were asked how acceptable nurse practitioners are as provides of primary health care. Although there was some confusion about the role of nurse practitioners and how this role differed from other primary health care nurses, participants in the focus groups were very positive about nurse practitioners and would find them acceptable in providing primary health care.

Genome wide association studies have identified a number of common genetic variants - single nucleotide polymorphisms (SNPs) – that combine to increase breast cancer risk. SNP profiling may enhance the accuracy of risk assessment and provides a personalized risk estimate. SNP testing for breast cancer risks may supplement other genetic tests in the future, however, before it can be implemented in the clinic we need to know how it will be perceived and received. Semi-structured qualitative interviews were conducted with 39 women who had previously had a breast cancer diagnosis and undergone BRCA1/2 testing, participated in the Variants in Practice (ViP) study and received personalized risk (SNP) profiles. Interviews explored their understanding and experiences of receiving this SNP information. Women reported feeling positive about receiving their personalized risk profile, because it: provided an explanation for their previous diagnosis of cancer, vindicated previous risk management decisions and clarified their own and other family members’ risks. A small group was initially shocked to learn of the increased risk of a second primary breast cancer. This study suggests that the provision of personalized risk information about breast cancer generated by SNP profiling is understood and well received. However, a model of genetic counseling that incorporates monogenic and polygenic genetic information will need to be developed prior to clinical implementation.

Background Nurses are becoming increasingly important as providers of primary health care in Australia. In November 2010, Medicare provider rights and Pharmaceutical Benefits Scheme rights for nurse practitioners, working in private practice and in collaboration with a medical practitioner, were introduced in Australia. Although international evidence suggests that nurse practitioners would be appropriate and acceptable providers of care at the first point of contact, such as primary health care, there is little Australian evidence about what care consumers are willing to accept from nurse practitioners. Objectives To ascertain what care Australian health-care consumers would accept from nurse practitioners in this setting. Participants Australian adults over 18 years of age. Methods National Survey delivered online. Information about the survey was disseminated through a media campaign, stakeholder engagement and through the health-care consumer networks nationally. Results The total number of respondents that started the survey was n = 1883. Ninety-five percentage (n = 1784) of respondents completed the survey. The majority of respondents were women, aged 25–54 years, had completed tertiary education and had an annual household income of more than A$80 000. The majority of the respondents (n = 1562, 87%) said they would be prepared to see a nurse practitioner for some of their primary health-care needs. Conclusions The findings of this study suggest consumers are accepting of a range of activities undertaken by nurse practitioners in primary health care and this has relevance for primary health-care workforce mix and organization, particularly for areas that are underserved by medical practitioners.

The aim of this study was to investigate the uptake of genetic testing by at-risk family members for four genetic conditions: chromosomal translocations, fragile X syndrome, Huntington disease, and spinal muscular atrophy. A clinical audit was undertaken using genetics files from Genetic Health Services Victoria. Data were extracted from the files regarding the number of at-risk family members and the proportion tested. Information was also collected about whether discussion of at-risk family members and family communication during the genetic consultation was recorded. The proportion of at-risk family members who had genetic testing ranged from 11% to 18%. First-degree family members were most frequently tested and the proportion of testing decreased by degree of relatedness to the proband. Smaller families were significantly more likely to have genetic testing for all conditions except Huntington disease. Female at-risk family members were significantly more likely to have testing for fragile X syndrome. The majority of at-risk family members do not have genetic testing. Family communication is likely to influence the uptake of genetic testing by at-risk family members and therefore it is important that families are supported while communicating to ensure that at-risk family members are able to make informed decisions about genetic testing. Genet Med 2012:14(1):122–128

Genetic information may have health and reproductive implications for the proband and their family members. The responsibility for communicating this information within families generally lies with the proband or consultand. Previous research has explored the barriers and facilitators to communication, particularly in families affected with familial cancer syndromes. This study is an exploration of families' experiences, which aims to elucidate the process of communicating genetic information in families affected with non-cancer genetic conditions. The methodology involved 12 semi-structured interviews with probands, consultands and their family members. There were six different genetic conditions present in the families: adrenoleukodystrophy (n=3), cystic fibrosis (n=3), fragile X syndrome (n=1), haemochromatosis (n=1), balanced reciprocal chromosomal translocation (n=3) and Robertsonian chromosomal translocation (n=1). The results presented arise from two key themes, (1) the diagnosis and (2) post diagnosis. The interview data illustrate that the time of the diagnosis is a traumatic experience for families and that communication stimulated by this event revolves around informing family members about the diagnosis, but not warning them of their genetic risk. Post diagnosis, the collection of information about the genetic condition and continued communication to more distant family members, often using pre-existing family communication patterns, enables the continuation of communication about the genetic condition.

Background: The traditional view of general practice holds that only general practitioners (GPs) in full-time clinical practice can provide quality patient care. Nevertheless, increasing numbers of GPs are choosing to work sessionally, that is, ostensibly “part-time”. There are concerns about the health workforce’s ability to meet demand and also fears that patient care may be compromised. We sought answers to a) what activities do GPs undertake when not consulting patients, b) why do they choose to work sessionally, and c) does sessional general practice reflect a lack of commitment to patients and the profession? Methods: Semi-structured interviews were conducted with GPs who worked sessionally, (i.e. six or fewer sessions a week in clinical general practice, where a session comprises four consecutive hours of patient care). These data were analysed qualitatively and saturation was reached. Results: The majority of participants were in full-time paid employment, while part-time in clinical general practice. They reported that consultations increasingly required the management of patients with complex, chronic conditions who also required psychological management. Coupled with unrealistic patient expectations, these factors led GPs to be concerned about maintaining the quality patient care they considered professionally desirable. Many diversified their work activities to ensure that they retained their professional standards. Conclusion: “Part-time” general practice is a misnomer that masks the contribution these GPs make as part of the health workforce. Sessional practice more accurately describes the nature of our participants’ clinical work. Their choice of sessional work is a professional response to the increasing demands within the consultation. It enables GPs to maintain their commitment to quality patient care and their profession, while attenuating the challenges of demanding consultations. Sessional general practitioners demonstrate strong commitment to their patients and the profession.

Despite being the most common congenital facial anomaly, little is understood about the genetic contribution to isolated clefts of the lip with or without cleft palate (CL/P). ‘OzCleft’, a family-based genotype/phenotype study, is investigating this further. Participation for families involves various clinical investigations of the child with the cleft, and their unaffected sibling(s) and parents. Informal feedback from individuals involved in OzCleft suggested that participation in this research programme had benefits for families. Taking a qualitative approach, this study sought to investigate this hypothesis further. Semi-structured in-depth interviews were conducted with nine parents who had participated in OzCleft. All parents described participation as a positive experience for themselves and their families. Perceived benefits included a greater appreciation of the cleft treatment experience by unaffected family members. Being involved in a genetic study raised issues for parents regarding the cause of clefting in their child. While some parents found the possibility of a genetic component reassuring, it also raised questions about the potential implications for future generations. Parents were largely unsure about how to communicate this information to their children and the predictive value of this information. This study suggests a lack of genetic understanding and/or perceived value of genetic information by parents of children with CL/P that, in turn, highlights the need for increased support from genetic health professionals in this area.

Cystic fibrosis is the most common severe autosomal recessive disease, with a prevalence of 1 in 2,500-3,500 live births and a carrier frequency of 1 in 25 among Northern Europeans. Population-based carrier screening for cystic fibrosis has been possible since CFTR, the disease-causing gene, was identified in 1989. This review provides a systematic evaluation of the literature from the past 23 years on population-based carrier screening for cystic fibrosis, focusing on the following: uptake of testing; how to offer screening; attitudes, opinions, and knowledge; factors influencing decision making; and follow-up after screening. Recommendations are given for the implementation and evaluation of future carrier-screening programs.

Background As many countries face primary care medical workforce shortages and find it difficult to provide timely and affordable care they seek to find new ways of delivering first point of contact health care through developing new service models. In common with other areas of rural and regional Australia, the Australian Capital Territory (ACT) is currently experiencing a general practitioner (GP) workforce shortage which impacts significantly on the ability of patients to access GP led primary care services. The introduction of a nurse led primary care Walk-in Centre in the ACT aimed to fulfill an unmet health care need in the community and meet projected demand for health care services as well as relieve pressure on the hospital system. Stakeholders have the potential to influence health service planning and policy, to advise on the potential of services to meet population health needs and to assess how acceptable health service innovation is to key stakeholder groups. This study aimed to ascertain the views of key stakeholders about the Walk-in Centre. Methods Stakeholders were purposively selected through the identification of individuals and organisations which had organisational or professional contact with the Walk-in Centre. Semi structured interviews around key themes were conducted with seventeen stakeholders. Results Stakeholders were generally supportive of the Walk-in Centre but identified key areas which they considered needed to be addressed. These included the service's systems, full utilisation of the nurse practitioner role and adequate education and training. It was also suggested that a doctor could be available to the Centre as a source of referral for patients who fall outside the nurses' scope of practice. The location of the Centre was seen to impact on patient flows to the Emergency Department. Conclusion Nurse led Walk-in Centres are one response to addressing primary health care medical workforce shortages. Whilst some stakeholders have reservations about the model others are supportive and see the potential the model has to provide accessible primary health care. Any further developments of nurse-led Walk-in Centres need to take into account the views of key stakeholders so as to ensure that the model is acceptable and sustainable.

Objective: To determine the prevalence of patient-initiated aggression toward general practitioners in Australia. Design, setting and participants: A cross-sectional national survey, conducted during February – May 2010, of 3090 GPs in 19 Divisions of General Practice, purposively sampled to represent urban, rural and remote areas. Main outcome measure: Proportion of GPs experiencing patient-initiated aggression. Results: Eight-hundred and four GPs returned completed surveys (response rate, 26.3%). In the previous 12 months, 58% of GPs had experienced verbal abuse and 18% had experienced property damage or theft. Very few GPs had experienced physical abuse (6%), stalking (4%), sexual harassment (6%) or sexual assault (0.1%). After controlling for other demographic variables, GPs with fewer years of experience (P = 0.003), or who worked full-time or in larger practices (both P = 0.03) experienced significantly more verbal abuse than their counterparts, and GPs who worked full-time (P = 0.004) or in metropolitan areas (P = 0.01) experienced significantly more property damage or theft. Female GPs experienced significantly more sexual harassment than male GPs (P < 0.001). Conclusions: This is the first national evidence of the prevalence of patient aggression toward GPs in Australia, which could inform the development of policies and guidelines

The communication of genetic information in families is an important process which can inform family members that they are at risk. However, evidence suggests that at-risk family members are often uninformed. Genetic health professionals have a role to assist consultands to communicate genetic information to their family members. Therefore, the aim of this study was to investigate genetic health professionals' practice with regard to the familial implications of a genetic diagnosis and subsequent family communication. An online survey resulted in 626 responses from genetic health professionals internationally. The results indicated that over 90% of genetic health professionals consistently counsel consultands about the familial implications of a genetic diagnosis during a consultation. Also there were no major differences in practice between clinical geneticists and genetic counselors. An average of 79% of genetic health professionals always send a summary letter to the consultand after a consultation. In contrast, 41% of genetic health professionals never write letters for at-risk family members. Other support is available to consultands after a consultation, but the availability of support relies on consultands and family members acting proactively and seeking out assistance from genetic health professionals for family communication. This may result in family members who are unaware that they are at risk of carrying and/or developing a genetic condition. This study is limited by the self-selection and self-reporting of the respondents' practice.

Purpose: To determine whether the provision of additional genetic counseling support could improve the uptake of genetic services by “at-risk” relatives of probands. Methods: The Tasmanian Clinical Genetics Service implemented a specific counseling intervention to a cohort of patients who were diagnosed with a genetic condition with familial implications and compared this with a control cohort who had not experienced the specific counseling intervention. The study involved 150 family members in 19 different kindreds across the two cohorts. The principal outcome measure was the proportion of at-risk relatives who had made contact with the clinical genetics service within 2 years of the diagnosis in the index patient. Results: The proportion of at-risk relatives who made contact with the genetics service was 61% in the intervention cohort compared with 36% in the control cohort (P = 0.01). After controlling for the gender of the at-risk relatives, relatives in the intervention cohort were 2.6 times more likely to make contact with the genetics service (P = 0.02). Conclusions: The provision of increased genetic counseling support significantly increased the proportion of at-risk relatives who made contact with the genetic service. This suggests that the communication of genetic information within families can be enhanced by the provision of increased genetic counseling support.

This article aims to review ethical and clinical guidelines and policies addressing the communication of genetic information in families. Websites of national and regional bioethics committees, national human genetics societies, international health organisations, genetic interest groups and legal recommendations committees were searched for guidelines and policies. The databases Medline, Web of Science and Google Scholar were also utilised to search for additional guidelines relating to the communication of genetic information in families. The guidelines and policies included in this review are limited to those available in English. The search resulted in guidelines from 18 international, regional and national organisations from six countries pertaining to family communication of genetic information. The following ideals were common in their guidelines: (1) individuals have a moral obligation to communicate genetic information to their family members; (2) genetic health professionals should encourage individuals to communicate this information to their family members; and (3) genetic health professionals should support individuals throughout the communication process. The difference between the organisations' guidelines was the inclusion of information about the role of the health professional in supporting clients during the process of communicating genetic information to their family members. Only two recommendations suggested that the health professional should support their clients by identifying at-risk family members, but more guidelines recommended that directive counselling should be undertaken to encourage clients to communicate genetic information to their family members. In conclusion, the guidelines provide an overview of the role that genetic health professionals may undertake; however, there are gaps that need to be addressed.

Internationally, youth access to primary health care is problematic due to documented barriers such as cost, concerns about confidentiality, and knowledge about when to attend and available services. The treatment of health problems earlier in life together with engagement in prevention and health education can optimise youth health and maximise the potential of future wellbeing. This study investigated the feasibility, acceptability and cost of establishing nurse-led youth clinics in Victoria, Australia. Three general practices in rural and regional areas of Victoria implemented the nurse-led youth health clinics. The clinics were poorly attended by young people. Practice nurses identified several barriers to the clinic attendance including the short timeframe of the study, set times of the clinics and a lack of support for the clinics by some GPs and external youth health clinics, resulting in few referrals. The clinics cost from $5912 to $8557 to establish, which included training the practice nurses. Benefits of the clinics included increased staff knowledge about youth health issues and improved relationships within the general practice staff teams. The implementation of youth health clinics is not feasible in a short timeframe and to maximise use of the clinics, all members of the general practice team need to find the clinics acceptable.

There is little understanding about the educational levels and career pathways of the primary care nursing workforce in Australia. This article reports on survey research conducted to examine the qualifications and educational preparation of primary care nurses in general practice, their current enrolments in education programs, and their perspectives about post-registration education. Fifty-eight practice nurses from across Australia completed the survey. Over 94% reported that they had access to educational opportunities but identified a range of barriers to undertaking further education. Although 41% of nurses said they were practising at a speciality advanced level, this correlated with the number of years they had worked in general practice rather than to any other factor, including level of education. Respondents felt a strong sense of being regarded as less important than nurses working in the acute care sector. Almost 85% of respondents reported that they did not have a career pathway in their organisation. They also felt that while the public had confidence in them, there was some way to go regarding role recognition.