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A diagnosis of the X-linked condition Fragile X syndrome (FXS) in a child commonly reveals the mother's carrier status. Previous research focused on the genetic counseling process for the child and maternal family, despite calls for more research on the support needs of fathers. This study explored experiences and support needs of fathers at least 1 year after their child's FXS diagnosis to understand barriers and enablers and optimize health outcomes for the family. In-depth interviews were conducted with 11 fathers recruited through the Australian Genetics of Learning Disability Service and the Fragile X Association. Deidentified transcripts were analyzed using thematic analysis guided by an inductive approach. Four themes emerged: (1) making life easier through understanding-yesterday and today, (2) the path to a new normal-today and tomorrow, (3) seeking information and support, and (4) what men want. Fathers reported diagnostic odysseys, postdiagnostic grief, and challenges adjusting. They highlighted difficulties in understanding their child's unique behaviors and needs, responding to their partner's psychological support needs, planning for their child's future, and navigating complex health and disability systems. Participants suggested health professionals facilitate father-to-father support and psychological counseling. These findings highlight the unmet needs of fathers and suggest that a strengths-based approach is critically important given the recognized mental health impact., (© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

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).)

Objective: To evaluate if existing Australian public policy related to screening, diagnosis, treatment and follow up care for breast cancer addresses the needs of and outcomes for Indigenous 1 women?, Methods: This review of policy employed a modified Delphi method via an online panel of experts (n = 13), who were purposively recruited according to experience and expertise. A series of online meetings and online surveys were used for data collection. The aims of the study were to: Identify all existing and current breast cancer policy in Australia;  Analyse the extent to which consideration of Indigenous peoples is included in the development, design and implementation of the policy; and Identify policy gaps and make recommendations as to how they could be addressed. The policies were evaluated using 'A Guide to Evaluation under the Indigenous Evaluation Strategy, 2020'., Results: A list of current breast cancer policies (n = 7) was agreed and analysed. Five draft recommendations to improve breast cancer outcomes for Indigenous women were developed and refined by the panel., Conclusions: Current breast cancer policy in Australia does not address the needs of Indigenous women and requires change to improve outcomes., (© 2023. The Author(s).)

Background: Breast cancer continues to be the second most diagnosed cancer overall and the most diagnosed cancer for women in Australia. While mortality rates overall have declined in recent years, Indigenous women continue to be diagnosed at more marginal rates (0.9 times) and are more likely to die (1.2 times). The literature provides a myriad of reasons for this; however, the voices of Indigenous women are largely absent. This study sets out to understand what is happening from the perspectives of Australian Indigenous women with a view to charting culturally safer pathways that improve participation in screening and treatment by Indigenous women., Methods: This co-design study was conducted using semi-structured, in-depth interviews and focus group discussions. Recruitment of study participants was via snowball sampling. Participants were subsequently consented into the study through the Aboriginal Health Service and the research team. Interviews were audio recorded and transcribed verbatim, and data coded in NVivo12 using inductive thematic analysis., Results: A total of 21 Indigenous women and 14 health service providers were interviewed predominantly from the same regional/rural area in NSW, with a small proportion from other states in Australia. Six major themes were identified: Access, Awareness, Community and Family, Lack of control, Negative feelings and associations and Role of services., Conclusion: To improve access and participation of Indigenous women and ultimately improve mortality rates, breast cancer services must explicitly address cultural and community needs., (© 2023. The Author(s).)

The choices of participants in nephrology research genomics studies about receiving additional findings (AFs) are unclear as are participant factors that might influence those choices. Methods : Participant choices and factors potentially impacting decisions about AFs were examined in an Australian study applying research genomic testing following uninformative diagnostic genetic testing for suspected monogenic kidney disease. Results : 93% of participants (195/210) chose to receive potential AFs. There were no statistically significant differences between those consenting to receive AFs or not in terms of gender ( p = 0.97), median age ( p = 0.56), being personally affected by the inherited kidney disease of interest ( p = 0.38), or by the inheritance pattern ( p = 0.12-0.19). Participants were more likely to choose not to receive AFs if the family proband presented in adulthood ( p = 0.01), if there was family history of another genetic disorder ( p = 0.01), and where the consent process was undertaken by an adult nephrologist ( p = 0.01). Conclusion : The majority of participants in this nephrology research genomics study chose to receive potential AFs. Younger age of the family proband, family history of an alternate genetic disorder, and consenting by some multidisciplinary team members might impact upon participant choices.

Purpose: This study sought to determine genetics and oncology specialists' views of integrating BRCA1 and BRCA2 testing in epithelial ovarian and breast cancer into routine practice., Methods: Qualitative interviews were designed using the Consolidated Framework for Implementation Research. Questions included experiences or views of the BRCA testing processes, implementation needs of oncology health professionals, perceived challenges, and future ideas for interventions to integrate genetic testing into oncology., Results: Twenty-two participants were interviewed from twelve health organizations and four themes were identified: (1) embracing the shift to mainstream genetic testing, with the majority of participants viewing BRCA testing as clinically useful and routine use important for maintaining a patient centered process; (2) the need for communication networks and role delineation to integrate routine genetic testing; (3) factors that influence sustaining routine genetic testing, including ongoing training, resources and funding, real-world adaptation, system complexity, and champions; and (4) variation in system interventions for integrating routine genetic testing align to organizational context., Conclusion: Findings illustrate the need for integrating genetic testing into routine oncology, and that adaptation of interventions and processes is essential to sustain a feasible model. An understanding of individual and organizational implementation factors will help to prepare for future integration of routine genetic testing in other cancers.

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.)

When analysing the health behaviours of any group of people, understanding the constraints and possibilities for individual agency as shaped by the broader societal context is critical. In recent decades, our understanding of the ways in which physical and social environments influence health and health behaviours has expanded greatly. The authors of a recent analysis of Australian Aboriginal health data using an economic 'rational choice model,' published in this journal, claim to make a useful contribution to policy discussions relating to Aboriginal health, but neglect context. By doing so, they neglect the very factors that determine the success or failure of policy change. Notwithstanding the technical sophistication of the analyses, by ignoring most relevant determinants of health, the conclusions misrepresent the lives of Aboriginal and Torres Strait Islander people and therefore risk perpetuating harm, rather than improving health., (Copyright © 2014 The Authors. Published by Elsevier Ltd.. All rights reserved.)