"Mainstreaming" is a proposed strategy to integrate genomic testing into oncology. The aim of this paper is to develop a mainstreaming oncogenomics model by identifying health system interventions ...and implementation strategies for mainstreaming Lynch syndrome genomic testing.
A rigorous theoretical approach inclusive of conducting a systematic review and qualitative and quantitative studies was undertaken using the Consolidated Framework for Implementation Research. Theory-informed implementation data were mapped to the Genomic Medicine Integrative Research framework to generate potential strategies.
The systematic review identified a lack of theory-guided health system interventions and evaluation for Lynch syndrome and other mainstreaming programs. The qualitative study phase included 22 participants from 12 health organizations. The quantitative Lynch syndrome survey included 198 responses: 26% and 66% from genetic and oncology health professionals, respectively. Studies identified the relative advantage and clinical utility of mainstreaming to improve genetic test access and to streamline care, and adaptation of current processes was recognized for results delivery and follow-up. Barriers identified included funding, infrastructure and resources, and the need for process and role delineation. The interventions to overcome barriers were as follows: embedded mainstream genetic counselors, electronic medical record genetic test ordering, results tracking, and mainstreaming education resources. Implementation evidence was connected through the Genomic Medicine Integrative Research framework resulting in a mainstreaming oncogenomics model.
The proposed mainstreaming oncogenomics model acts as a complex intervention. It features an adaptable suite of implementation strategies to inform Lynch syndrome and other hereditary cancer service delivery. Implementation and evaluation of the model are required in future research.
Background
There is growing recommendation to integrate ultrasound training into undergraduate medical curricula; with limited evidence of its implementation in the United Kingdom. Peripheral ...intravenous cannulation (PIVC) often has high failure rates—particularly for patients with difficult vascular access. Ultrasound‐guided PIVC (US‐PIVC) has been shown to increase the rates of success and may reduce dependence on seniors. Teaching US‐PIVC to senior medical students may prove a clinically valuable and feasible means of introducing ultrasound into medical programmes.
Methods
We initially surveyed 18 doctors to assess their perceptions and experience of ultrasound. Thirty‐five final‐year medical students took part in a novel US‐PIVC course. Students’ competence was assessed at the end of the session using an objective assessment. Students’ pre‐ and post‐course attitudes and confidence were evaluated using questionnaires.
Results
All doctors surveyed reported difficulty performing PIVC since starting work: 66% on a monthly basis. None of the students (0%) and 11% of the doctors had previously received ultrasound training. By the end of the course, all students ‘agreed’ or ‘strongly agreed’ that the session was enjoyable and that they felt confident performing US‐PIVC. Thirty‐four of 35 participants attained the minimum competence standard. Students’ confidence performing PIVC, regardless of ultrasound guidance, increased significantly (p = 0.002) following the session.
Discussion
As ultrasound becomes a more readily available point‐of‐care technology, it should be considered for inclusion in the undergraduate medical curriculum. Our course appears to be an effective model of teaching US‐PIVC to final‐year medical students. Similar courses could act as a pragmatic and clinically rewarding means of implementing US‐PIVC teaching into the latter years of undergraduate curricula.
This brief article is a reflection of immersive technology in healthcare education that features a digital illustration to capture the frenetic clinical environment that is broadcast live using ...augmented reality with a virtual onlooker, portrayed as the all seeing eye. The purpose of the artwork is to promote a discussion over consent, reality, and psychological safety.
There is significant heterogeneity in the outcomes assessed across studies of reproductive genetic carrier screening (RGCS). Only a small number of studies have measured patient-reported outcomes or ...included patients in the selection of outcomes that are meaningful to them. This study was a cross-sectional, qualitative study of 15 patient participants conducted to inform a core outcome set. A core outcome set is an approach to facilitate standardisation in outcome reporting, allowing direct comparison of outcomes across studies to enhance understanding of impacts and potential harms. The aim of this study was to incorporate the patient perspective in the development of a core outcome set by eliciting a detailed understanding of outcomes of importance to patients. Data were collected via online, semi-structured interviews using a novel method informed by co-design and the nominal group technique. Data were analysed using reflexive thematic analysis. Outcomes elicited from patient stakeholder interviews highlighted several under-explored areas for future research. This includes the role of grief and loss in increased risk couples, the role of empowerment in conceptualising the utility of RGCS, the impact of societal context and barriers that contribute to negative experiences, and the role of genetic counselling in ensuring that information needs are met and informed choice facilitated as RGCS becomes increasingly routine. Future research should focus on incorporating outcomes that accurately reflect patient needs and experience.
One argument for containing urban densities is that cities need a critical population density to sustain sufficiently available public transportation. However, the question of whether denser cities ...foster shorter public transport networks empirically is problematic because real-world transport nets are a product of many additional factors presumably not related to urban form. This paper adopts a network expansion simulation approach to generate and analyze counterfactual data on network lengths for 36 world cities, in which all networks are generated with similar expansion restrictions and objectives. Denser cities are found to have shorter simulated public transport networks, regardless of the tested model parameters. This provides additional proof that densities are needed to facilitate the provision of proximate public transport infrastructure, with potentially self-reinforcing effects.
Health professional educators routinely utilize simulation to prepare students for practice. However, there is little evidence to show whether simulation enhances learning for genetic counseling ...students. This study aimed to (i) develop simulation learning outcomes and standardized clients for genetic counselor student education and (ii) evaluate students' experiences of learning from face-to-face and virtual simulation in the first week of training in an Australasian master of genetic counseling program. Using the principles of co-design, eight experienced genetic counselors from across Australasia attended an online discussion and one-to-one meetings to develop simulation learning outcomes and build detailed authentic standardized clients. Six learning outcomes were identified: establishing an effective counseling relationship, eliciting information, assessing need, delivering difficult news and helping clients cope with complex emotions, effective communication and facilitating adaptation. Standardized clients were mapped to the learning outcomes and other requirements of the program. Between 2019 and 2022, 106 first year students participated in face-to-face or virtual simulation workshops with two standardized clients on Day 5 of their training. Following the experience, 103 students completed an anonymous survey using a modified version of a validated satisfaction with simulation scale (n = 49 face-to-face in 2019 and 2020 and n = 54 virtual in 2021 and 2022). Responses were analyzed using descriptive statistics and content analysis. Mean satisfaction overall was 95.9% (SD 3.5), 96.2 (SD 4.0) face-to-face, and 95.8 (SD 3.7) virtual. Overall, responses indicated that simulation-based learning and working with standardized clients was a valuable learning experience (100%), developed communication skills and created a sense of reality (99%). For a minority of participants (n = 4), the simulation was too challenging. Key learning related to consolidation of counseling skills, reflective practice, and preparation for clinical placement. In conclusion, exposing novice student genetic counselors to authentic clinical scenarios using standardized clients in face-to-face or virtual classrooms enhanced clinical learning.
Genomic sequencing in cancer (both tumour and germline), and development of therapies targeted to tumour genetic status, hold great promise for improvement of patient outcomes. However, the imminent ...introduction of genomics into clinical practice calls for better understanding of how patients value, experience, and cope with this novel technology and its often complex results. Here we describe a protocol for a novel mixed-methods, prospective study (PiGeOn) that aims to examine patients' psychosocial, cognitive, affective and behavioural responses to tumour genomic profiling and to integrate a parallel critical ethical analysis of returning results.
This is a cohort sub-study of a parent tumour genomic profiling programme enrolling patients with advanced cancer. One thousand patients will be recruited for the parent study in Sydney, Australia from 2016 to 2019. They will be asked to complete surveys at baseline, three, and five months. Primary outcomes are: knowledge, preferences, attitudes and values. A purposively sampled subset of patients will be asked to participate in three semi-structured interviews (at each time point) to provide deeper data interpretation. Relevant ethical themes will be critically analysed to iteratively develop or refine normative ethical concepts or frameworks currently used in the return of genetic information.
This will be the first Australian study to collect longitudinal data on cancer patients' experience of tumour genomic profiling. Findings will be used to inform ongoing ethical debates on issues such as how to effectively obtain informed consent for genomic profiling return results, distinguish between research and clinical practice and manage patient expectations. The combination of quantitative and qualitative methods will provide comprehensive and critical data on how patients cope with 'actionable' and 'non-actionable' results. This information is needed to ensure that when tumour genomic profiling becomes part of routine clinical care, ethical considerations are embedded, and patients are adequately prepared and supported during and after receiving results.
Not required for this sub-study, parent trial registration ACTRN12616000908437 .
Advances in genomics offer promise for earlier detection or prevention of cancer, by personalisation of medical care tailored to an individual's genomic risk status. However genome sequencing can ...generate an unprecedented volume of results for the patient to process with potential implications for their families and reproductive choices. This paper describes a protocol for a study (PiGeOn) that aims to explore how patients and their blood relatives experience germline genomic sequencing, to help guide the appropriate future implementation of genome sequencing into routine clinical practice.
We have designed a mixed-methods, prospective, cohort sub-study of a germline genomic sequencing study that targets adults with cancer suggestive of a genetic aetiology. One thousand probands and 2000 of their blood relatives will undergo germline genomic sequencing as part of the parent study in Sydney, Australia between 2016 and 2020. Test results are expected within12-15 months of recruitment. For the PiGeOn sub-study, participants will be invited to complete surveys at baseline, three months and twelve months after baseline using self-administered questionnaires, to assess the experience of long waits for results (despite being informed that results may not be returned) and expectations of receiving them. Subsets of both probands and blood relatives will be purposively sampled and invited to participate in three semi-structured qualitative interviews (at baseline and each follow-up) to triangulate the data. Ethical themes identified in the data will be used to inform critical revisions of normative ethical concepts or frameworks.
This will be one of the first studies internationally to follow the psychosocial impact on probands and their blood relatives who undergo germline genome sequencing, over time. Study results will inform ongoing ethical debates on issues such as informed consent for genomic sequencing, and informing participants and their relatives of specific results. The study will also provide important outcome data concerning the psychological impact of prolonged waiting for germline genomic sequencing. These data are needed to ensure that when germline genomic sequencing is introduced into standard clinical settings, ethical concepts are embedded, and patients and their relatives are adequately prepared and supported during and after the testing process.
This book approaches the differential diagnosis and management of rare, hereditary cancer syndromes from a practical angle, addressing the issues pertinent to each tumour type as encountered by ...health professionals in their day-to-day practice. This book enables readers to correctly identify patients with rare cancer syndromes who would benefit from genetic counselling and testing, and provides the necessary knowledge for appropriate patient management and advising at-risk family members. It begins by describing recent advances in genetic testing for cancer-predisposing genes. Leading experts from Europe and Australia then offer detailed, up-to-date guidance on the diagnosis and management of a wide range of hereditary cancers. The concluding chapter examines the wider issues that are raised by genetic testing for rare cancer syndromes for patients, families and health professionals. This book is an invaluable source of information for all specialists involved in the care of such patients and their families.
IntroductionPeople of Ashkenazi Jewish (AJ) ancestry are more likely than unselected populations to have a BRCA1/2 pathogenic variant, which cause a significantly increased risk of breast, ovarian ...and prostate cancer. Three specific BRCA1/2 pathogenic variants, referred to as BRCA-Jewish founder mutations (B-JFM), account for >90% of BRCA1/2 pathogenic variants in people of AJ ancestry. Current practice of identifying eligible individuals for BRCA testing based on personal and/or family history has been shown to miss at least 50% of people who have one of these variants. Here we describe the protocol of the JeneScreen study—a study established to develop and evaluate two different population-based B-JFM screening programmes, offered to people of Jewish ancestry in Sydney and Melbourne, Australia.Methods and analysisTo rmeasure the acceptability of population-based B-JFM screening in Australia, two screening programmes using different methodologies have been developed. The Sydney JeneScreen programme provides information and obtains informed consent by way of an online tool. The Melbourne JeneScreen programme does this by way of community sessions attended in person. Participants complete questionnaires to measure clinical and psychosocial outcomes at baseline, and for those who have testing, 2 weeks postresult. Participants who decline testing are sent a questionnaire regarding reasons for declining. Participants with a B-JFM are sent questionnaires 12-month and 24-month post-testing. The questionnaires incorporate validated scales, which measure anxiety, decisional conflict and regret, and test-related distress and positive experiences, and other items specifically developed or adapted for the study. These measures will be assessed for each programme and the two population-based B-JFM screening methods will be compared.Ethics and disseminationInstitutional Human Research Ethics Committee approval was obtained from the South Eastern Area Health Service Human Research Ethics Committee: HREC Ref 16/125.Following the analysis of the study results, the findings will be disseminated widely through conferences and publications, and directly to participants in writing.
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