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Aim: Recent rapid advances in genomics are revolutionising patient diagnosis and management of genetic conditions. However, this has led to many challenges in service provision, education and upskilling requirements for non-genetics health-care professionals and remuneration for genomic testing. In Australia, Medicare funding with a Paediatric genomic testing item for patients with intellectual disability or syndromic features has attempted to address this latter issue. The Sydney Children's Hospitals Network - Westmead (SCHN-W) Clinical Genetics Department established Paediatric and Neurology genomic multidisciplinary team (MDT) meetings to address the Medicare-specified requirement for discussion with clinical genetics, and increasing genomic testing advice requests., Methods: This SCHN-W genomic MDT was evaluated with two implementation science frameworks - the RE-AIM (Reach, Effectiveness, Adoption, Implementation, Maintenance) and GMIR - Genomic Medicine Integrative Research frameworks. Data from June 2020 to July 2022 were synthesised and evaluated, as well as process mapping of the MDT service., Results: A total of 205 patients were discussed in 34 MDT meetings, facilitating 148 genomic tests, of which 73 were Medicare eligible. This was equivalent to 26% of SCHN-W genetics outpatient activity, and 13% of all Medicare-funded paediatric genomic testing in NSW. 39% of patients received a genetic diagnosis., Conclusion: The genomic MDT facilitated increased genomic testing at a tertiary paediatric centre and is an effective model for mainstreaming and facilitating precision medicine. However, significant implementation issues were identified including cost and sustainability, as well as the high level of resourcing that will be required to scale up this approach to other areas of medicine., (© 2024 The Authors. Journal of Paediatrics and Child Health published by John Wiley & Sons Australia, Ltd on behalf of Paediatrics and Child Health Division (The Royal Australasian College of Physicians).)

Mainstream genetic testing in routine oncology care requires implementation research to inform intervention design. In Australia, funding is available for oncology health professionals (OHP) to organise genetic testing (GT) for eligible colorectal and endometrial cancer patients as part of their routine care. To assess the health system ability to incorporate this practice change, we conducted an implementation survey using the Consolidated Framework for Implementation Research (CFIR). The online survey was available from April to September 2020 to OHP and genetic health professional (GHP). In total, 198 respondents attempted the survey, with 158 completed and 27 partial responses: 26% were GHP, 66% OHP and 8% pathologists. Of all responders, 50% were female, mainly practicing in public hospital settings (57%) in an urban location (80%) and with an 18-60 years plus age range. The majority of respondents saw the relative advantage of aligning GT to abnormal universal tumour screening (UTS) results, with 77% of GHP and 78% of OHP agreeing it would streamline care for patients. There was disagreement across healthcare professional groups about knowledge and self-efficacy, with 45% of GHP not viewing oncologists as 'feeling confident' to use genetic test results for treatment management decisions, while 62% of OHP felt confident in their ability. Both OHP and GHP's indicated embedding a genetic counsellor in oncology or having a genetics point of contact to support integrating of GT through UTS as favourable interventions. Implementation research findings allow for the design of targeted interventions and a model for GT integration into oncology., (© 2021. Crown.)

Background: Integration of genetic testing into routine oncology care could improve access to testing. This systematic review investigated interventions and the tailored implementation strategies aimed at increasing access to genetic counselling and testing and identifying hereditary cancer in oncology., Methods: The search strategy results were reported using the PRISMA statement and four electronic databases were searched. Eligible studies included routine genetic testing for breast and ovarian cancer or uptake after universal tumour screening for colorectal or endometrial cancer. The titles and abstracts were reviewed and the full text articles screened for eligibility. Data extraction was preformed using a designed template and study appraisal was assessed using an adapted Newcastle Ottawa Scale. Extracted data were mapped to Proctor's et al outcomes and the Consolidated Framework for Implementation Research and qualitatively synthesised., Results: Twenty-seven studies, published up to May 2020, met the inclusion criteria. Twenty-five studies ranged from poor (72%), fair to good (28%) quality. Most interventions identified were complex (multiple components) such as; patient or health professional education, interdisciplinary practice and a documentation or system change. Forty-eight percent of studies with complex interventions demonstrated on average a 35% increase in access to genetic counselling and a 15% increase in testing completion. Mapping of study outcomes showed that 70% and 32% of the studies aligned with either the service and client or the implementation level outcome and 96% to the process or inner setting domains of the Consolidated Framework for Implementation Research., Conclusion: Existing evidence suggests that complex interventions have a potentially positive effect towards genetic counselling and testing completion rates in oncology services. Studies of sound methodological quality that explore a greater breadth of pre and post implementation outcomes and informed by theory are needed. Such research could inform future service delivery models for the integration of genetics into oncology services., Competing Interests: The authors declare that they have no competing interests.

Facilitating informed decision-making regarding genetic testing is a core component of genetic counseling practice. Internationally, genetic testing is shifting toward gene panels and genomic testing, including whole exome and whole genome sequencing to improve diagnostic yield and cost-effectiveness. This study explored genetics practitioners' current experience with panels and genomic tests and the associated evolution of genetic counseling practice. Genetics practitioners with genomic testing experience, were purposively invited to participate in a semi-structured telephone interview and to snowball the invitation to colleagues. Interviews conducted with participants residing in Australia (n = 9) and the UK (n = 5) were transcribed and analyzed using an inductive thematic approach. Three themes emerged: (a) Role delineation: current roles, future roles, and the influence of increasing complexity; (b) The evolving spectrum of practice: blurred boundaries between research and clinical services; impact on facilitation of informed consent; and return of results strategies; and (c) Policy and governance needs: equality of access; achieving consistent variant interpretation, reporting, and responsibility for review; managing incidental findings; and professional regulation for Australian genetic counselors. These exploratory data highlight that genetic counseling practice and the essential role of facilitating informed consent are evolving but remain patient-centered, with core skills underpinning practitioners' capacity to adapt., (© 2018 National Society of Genetic Counselors.)

The traditional model of providing cancer predictive testing services is changing. Many genetic centres are now offering a choice to patients in how they receive their results instead of the typical face-to-face disclosure. In view of this shift in practice and the increasing demand on the ROI cancer predictive testing service, a 2 year retrospective study on patient preference in how to receive a Breast Cancer (BRCA) predictive result was carried out. Results showed that 71.7 % of respondents would have liked to have the option of obtaining their results by telephone or by letter. However, when asked about their actual experience of BRCA predictive results disclosure 40.6 % did still value the face-to-face contact, while 44.9 % would still have preferred to receive results by either post or telephone. No significant difference was found between males and females (p > 0.05) and those who tested negative or positive for the BRCA mutation (p > 0.05) in wanting a choice in how their results were disclosed. While the majority expressed a wish to have a choice in how to receive their results, it is important not to underestimate the value of a face-to-face encounter in these circumstances.