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Purpose: To understand diversity, inclusion, and capacity of genetic counselors (GCs) in Australasia (Australia and New Zealand). Methods: Individuals with or working toward a GC qualification in Australasia were invited to complete an online survey, between November 2022 and March 2023. Quantitative data were analyzed using descriptive statistics, 1-sample proportion z-tests, 2-sample z-tests, and χ2 tests. Qualitative data were analyzed using inductive content analysis. Results: A total of 252 participants responded to the survey. A subset analysis of respondents residing in Australia demonstrated a lack of representation across various characteristics including sex, relationship status, caregiver status, location, country of birth, Aboriginal/Torres Strait Islander identity, language, and religion. Analysis of the full data set demonstrated that most respondents also perceived that the workforce was not representative across gender, sexual orientation, ethnicity, or disability. Respondents provided examples of existing inclusive practice. They also suggested workforce needs, such as promoting education and employment for minority communities, more visible diversity, accessible services for clients, and professional development for GCs. Using survey and reference data, we estimated approximately 346 full-time equivalent GCs working in clinical practice in Australasia. Conclusion: Our study provides a first step in illuminating GC workforce changes needed in Australasia regarding diversity, inclusion, and capacity. The survey may be of use internationally, enabling other countries to understand these issues within their jurisdiction, and supporting the international community in addressing these challenges.

Purpose: In Australia and New Zealand, one third of genetic counselors have less than 5 years’ experience. Sharing experienced practitioners’ professional knowledge is needed as the profession grows. Formal mentoring is an important facilitator of career progression and shared knowledge. In 2022, the Australasian Society of Genetic Counselors developed a 6-month mentor program, matching mentees with experienced genetic counselors (>10 years). We aimed to evaluate and assess the overall satisfaction and acceptability of the program, the matching process, and barriers to participation. Methods: We used an explanatory mixed-method design with cross-sectional surveys deployed at baseline and follow-up and opt-in semi-structured interviews. Interview transcripts were analyzed using codebook thematic analysis, and data were integrated in a narrative approach. Results: Fifteen mentors and 15 mentees (N = 30) from 17 dyads were included in the analysis (response rate 83%). Eighteen completed the postprogram survey, and 12 were interviewed. The majority were female (93%), European (90%), and worked clinically in public hospitals (63%). Mentors’ main reason for participating was “to give back to the next generation,” whereas mentees sought “help with career progression.” Time was a barrier to participating. The majority (89%) achieved their goals, and all participants would recommend the program. Most (61%) found the mentor/mentee matching to be excellent, and 44% believed they would continue the relationship after the program. Conclusion: The Australasian Society of Genetic Counselors Mentor Program filled a gap in professional development within the Australian and New Zealand genetic counseling community and highlighted a general desire to share knowledge with new members of the profession.

Purpose: The Australian Genomics Cardiovascular Disorders Flagship was a national multidisciplinary collaboration. It aimed to investigate the feasibility of genome sequencing (GS) and functional genomics to resolve variants of uncertain significance (VUS) in the clinical management of patients and families with cardiomyopathies, primary arrhythmias, and congenital heart disease (CHD). Methods: Between April 2019 and December 2021, 600 probands meeting cardiovascular disorder criteria from 17 cardiology and genetics clinics across Australia were enrolled in the Flagship and underwent GS. The Flagship adopted a tiered approach to GS analysis. Tier 1 analysis assessed genes with established clinical validity for each cardiovascular condition. Tier 2 analysis assessed lesser-evidenced research-based genes. Tier 3 analysis assessed the functional impact of VUS that remained after tier 1 and tier 2 analysis. Results: Overall, a pathogenic or likely pathogenic variant was identified in 41% of participants with a cardiomyopathy, 40% with an arrhythmia syndrome, and 15% with a familial CHD/CHD+Extra Cardiac Anomalies. A VUS outcome ranged from 13% for arrhythmias to 34% for CHD/CHD+Extra Cardiac Anomalies participants. Tier 2 research analysis identified a likely pathogenic/pathogenic variant for a further 15 participants and a VUS for an additional 15 participants. Conclusion: The Flagship successfully facilitated a model of care that harnesses clinical GS and functional genomics for the resolution of VUS in the clinical setting. This valuable data set can be used to inform clinical practice and facilitate research into the future.