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There are both genetic and behavioral risk factors for breast cancer, but the interaction between these factors is not clear. Little is known about the impact of receiving genetic risk information for breast cancer on behaviors such as diet and physical activity. Seven focus groups were conducted with 23 women who had recently received genetic counseling for breast cancer, in order to explore health beliefs and behaviors following genetic counseling. Findings revealed that there was much confusion and uncertainty about the associations between health behaviors and breast cancer risk, and participants reported that receiving genetic counseling had little impact on health protective behaviors. Further research is required to understand variation in response to genetic risk information, and to assess the impact of providing additional information regarding lifestyle factors. [ABSTRACT FROM AUTHOR]

As a result of the ongoing global expansion of genetic counseling, the need to formalize a system of professional regulation for genetic counselors was identified in Australasia. In June 2017, under the auspices of the Human Genetics Society of Australasia (HGSA), a working party was convened. The purpose of the working party was to provide strategic leadership for the profession of Australasian genetic counselors with a goal to formalize a national regulatory framework for genetic counselors across both Australian and New Zealand jurisdictions. This was ultimately achieved in Australia through full membership with the National Alliance of Self-Regulating Health Professions (NASRHP) while the profession of genetic counseling in New Zealand is utilizing this framework to establish their regulation pathway. Regulation has a number of implications for genetic counselors, their employers, and the wider community, with the primary purpose of regulation being protection of the public from harm. This paper details the process of formalizing self-regulation for genetic counselors in Australasia, by defining professional regulation; outlining the purpose of regulation and the status of regulation for genetic counselors in Australasia and internationally, as well as health professionals more broadly; exploring the challenges of establishing regulation in Australasia; and the next steps for regulation in Australasia. Through detailing this process, the intention is to provide a framework to support genetic counseling colleagues internationally as well as other health professions in Australasia to explore and achieve regulation through their respective jurisdiction., (© 2020 National Society of Genetic Counselors.)

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., (© 2019 National Society of Genetic Counselors.)

Genetic counsellors face tensions between past and future identities: between established values and goals, and a broadening scope of settings and activities. This study examines the advent of genetic counsellors in private practice in Australia and New Zealand from the perspectives of the small numbers working in this sector and those who have only worked in public practice. Semi-structured interviews were conducted with 16 genetic counsellors who had experience in private practice, and 14 genetic counsellors without private sector experience. Results demonstrated that circumstantial and personal factors can mitigate the challenges experienced and the amount of support desired by those who had established a private practice, and those who were employed by private companies. Notably, most participants with private sector experience perceived themselves to be viewed negatively by other genetic counsellors. Most participants without private sector experience expressed concern that the challenges they believed genetic counsellors face in private practice may impact service quality, but wished to address such concerns by providing appropriate support. Together, our results reinforce that participants in private and public sectors are strong advocates for peer support, multidisciplinary team work, and professional development. These core values, and seeking understanding of different circumstances and support needs, will enable genetic counsellors in different sectors to move forward together. Our results suggest supports that may be acted upon by members of the profession, professional groups, and training programs, in Australia, New Zealand, and overseas.

This paper describes the development and implementation of the first intervention to facilitate family communication of genetic information based on a genetic counseling model of practice. The intervention is telephone-based and therefore designed to complement face-to-face genetic counseling consultations. It was developed by firstly reviewing the literature and a model of genetic counseling practice, leading to definition of seven core principles underpinning the intervention. A counseling framework based on these principles was developed through iterative role playing and review, tested for consistency with good practice and piloted on ten study participants. It was found to be feasible to implement and consistent with good genetic counseling practice. Implementation included training of the genetic counselors who would deliver the intervention as part of a randomized controlled trial. Noteworthy deviations from good genetic counseling practice were observed, with unexpected additional insights into the 'black box' of genetic counseling that may have wider implications and would benefit from further investigation. The intervention is currently being evaluated in a randomized controlled trial, to assess its impact on the number of family members attending genetic services.

Interdisciplinary teams are increasingly common in healthcare as a means of improving patient care and there is consensus in the literature that a formalized framework of interdisciplinary education for health professionals is an advantageous means of professional development. To our knowledge no such application to genetic counseling has been reported. Prompted by limited direct exposure to the oncology processes discussed during genetic counseling sessions, two genetic counselors completed an interdisciplinary education exercise by observing various oncology settings. As intended we gained a deeper understanding of the: (1) Roles of other health professionals within the oncology interdisciplinary team, (2) Patient experience of cancer screening and treatment, and (3) Clinical processes relevant to cancer genetic counselors' discussions. In addition, further benefits resulted from (4) Insight into how patients and referring providers utilize the FCC within wider oncology care and (5) Strengthening of relationships between the FCC and other oncology-related teams. The observation experience and resulting learnings are described in this paper. To investigate wider application of this novel initiative, a survey of Australasian genetic counselors was conducted, finding that genetic counselors mostly source knowledge about oncology procedures through indirect means and that, overall, anecdotal descriptions from patients were the most common information source (74 %). Over 95 % of respondents expected that interdisciplinary observations would be a beneficial part of their professional development and almost 90 % expected the program to be potentially feasible in their workplace. These findings indicate there is a role for interdisciplinary education to be considered as a formal continual learning tool for genetic counselors.

People carrying germline mutations in mismatch repair genes are at high risk of colorectal cancer (CRC), yet about half of people from mutation-carrying families decline genetic counselling and/or testing to identify mutation status. We studied the association of quantitative measures of risk perception, risk prediction and self-reported screening colonoscopy in this elusive yet high-risk group. The sample of 26 participants (mean age 43.1 years, 14 women) in the Australasian Colorectal Cancer Family Registry were relatives of mutation carriers; had not been diagnosed with any cancer at the time of recruitment and had declined an invitation to attend genetic counselling and/or testing. A structured elicitation protocol captured perceived CRC risk over the next 10 years. Self-reported colonoscopy screening was elicited during a 45-minute semi-structured interview. Predicted 10-year CRC risk based on age, gender, known mutation status and family history was calculated using "MMRpro." Mean perceived 10-year risk of CRC was 31 % [95 % CI 21, 40], compared with mean predicted risk of 4 % [2, 7] (p < 0.001); this was independent of age and sex (p = 0.9). Among those reporting any medical advice and any screening colonoscopy (n = 18), those with higher risk perception had less frequent colonoscopy (Pearson's r = 0.49 [0.02, 0.79]). People who decline genetic testing for CRC susceptibility mutations perceive themselves to be at substantially higher risk than they really are. Those with high perceived risk do not undertake screening colonoscopy more often than those who perceive themselves to be at average risk.

When a new genetic condition is diagnosed within a family, genetic counselors often describe a sense of responsibility towards other at risk family members to be appropriately informed about their status. Successful communication of genetic information in families is contingent on many factors. While a small number of probands directly state their intention not to inform their relatives, many who do intend to communicate this information appear to be unsuccessful for a wide range of reasons and may benefit from follow up support from a genetic counselor. Drawing on the reciprocal-engagement model (REM) of genetic counseling practice we explore how enhancing family communication about genetics raises a number of ethical and professional challenges for counselors-and describe how we resolved these. A subsequent manuscript will describe the counseling framework we have developed to enhance family communication about genetics.

This study aimed to explore health professionals' views and practice regarding the provision of information about health-protective behaviors (e.g., exercise, alcohol consumption, diet) during genetic consultation for breast cancer. Ten genetic counselors participated in three focus groups, and seven medical specialists were interviewed in a focus group or individually. Data was analyzed using the constant comparative method. Findings suggested that health professionals held differing, often opposing, views about the value of health-protective behaviors for women at increased risk of breast cancer. The content and extent of information provided about health-protective behaviors varied widely, and participants expressed a need to form consensus regarding information provision both within and across clinics. The main barriers to providing information regarding health-protective behaviors included the lack of research evidence regarding the impact of these factors and higher priority of other information need to be provided in the limited consultation time. Participants generally did not consider it their role to promote health-protective behaviors, and were concerned about the psychological impact of providing information about behavioral risk factors during genetic consultations.