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1.
J Genet Couns ; 2024 Feb 06.
Artigo em Inglês | MEDLINE | ID: mdl-38318937

RESUMO

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.

2.
J Genet Couns ; 2024 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-38197527

RESUMO

The increasing use of genomic sequencing in research means secondary findings (SF) is more frequently detected and becoming a more pressing issue for researchers. This is reflected by the recent publication of multiple guidelines on this issue, calling for researchers to have a plan for managing SF prior to commencing their research. A deeper understanding of participants' experiences and outcomes from receiving SF is needed to ensure that the return of SF is conducted ethically and with adequate support. This review focuses on the uptake and outcomes of receiving actionable SF for research participants. This review included studies from January 2010 to January 2023. Databases searched included Medline, Embase, PsycINFO, and Scopus. Of the 3903 studies identified, 29 were included in the analysis. The uptake of SF ranged between 20% and 97%, and outcomes were categorized into psychological, clinical, lifestyle and behavioral, and family outcomes. The results indicate there is minimal psychological impact from receiving SF. Almost all participants greatly valued receiving SF. These findings highlight considerations for researchers when returning results, including the importance of involving genetic health professionals in consenting, results return process, and ensuring continuity of care by engaging healthcare providers.

3.
Ann Vasc Surg ; 99: 58-64, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-37972728

RESUMO

BACKGROUND: Venous thromboembolism (VTE) incidence after thoracic and fenestrated endovascular aortic repair (TEVAR/FEVAR) is high (up to 6-7%) relative to other vascular procedures; however, the etiology for this discrepancy remains unknown. Notably, patients undergoing TEVAR/FEVAR commonly receive cerebrospinal fluid drains (CSFDs) for neuroprotection, requiring interruption of perioperative anticoagulation and prolonged immobility. We hypothesized that CSFDs are a risk factor for VTE after TEVAR/FEVAR. METHODS: Consecutive TEVAR/FEVAR patients at a single center were reviewed (2011-2020). Cerebrospinal fluid drains (CSFDs) were placed based on surgeon preference preoperatively or for spinal cord ischemia (SCI) rescue therapy postoperatively. The primary end-point was VTE occurrence, defined as any new deep venous thrombosis (DVT) or pulmonary embolism (PE) confirmed on imaging within 30 days postoperatively. Routine postoperative VTE screening was not performed. Patients with and without VTE, and subjects with and without CSFDs were compared. Logistic regression was used to explore associations between VTE incidence and CSFD exposure. RESULTS: Eight hundred ninety-seven patients underwent TEVAR/FEVAR and 43% (n = 387) received a CSFD at some point during their care (preoperative: 94% [n = 365/387]; postoperative SCI rescue therapy: 6% [n = 22/387]). CSFD patients were more likely to have previous aortic surgery (44% vs. 37%; P = 0.028) and received more postoperative blood products (780 vs. 405 mL; P = 0.005). The overall VTE incidence was 2.2% (n = 20). 70% (14) patients with VTE had DVT, 50% (10) had PE, and 20% (4) had DVT and PE. Among TEVAR/FEVAR patients with VTE, 65% (n = 13) were symptomatic. Most VTEs (90%, n = 18) were identified inhospital and the median time to diagnosis was 12.5 (interquartile range 7.5-18) days postoperatively. Patients with VTE were more likely to have nonelective surgery (95% vs. 41%; P < 0.001), had higher American Society of Anesthesiologists classification (4.1 vs. 3.7; P < 0.001), required longer intensive care unit admission (24 vs. 12 days; P < 0.001), and received more blood products (1,386 vs. 559 mL; P < 0.001). Venous thromboembolism (VTE) incidence was 1.8% in CSFD patients compared to 3.5% in non-CSFD patients (odds ratio 0.70 [95% confidence interval 0.28-1.78, P = 0.300). However, patients receiving CSFDs postoperatively for SCI rescue therapy had significantly greater VTE incidence (9.1% vs. 1.1%; P = 0.044). CONCLUSIONS: CSFD placement was not associated with an increased risk of VTE in patients undergoing TEVAR/FEVAR. Venous thromboembolism (VTE) risk was greater in patients undergoing nonelective surgery and those with complicated perioperative courses. Venous thromboembolism (VTE) risk was greater in patients receiving therapeutic CSFDs compared to prophylactic CSFDs, highlighting the importance of careful patient selection for prophylactic CSFD placement.


Assuntos
Procedimentos Endovasculares , Embolia Pulmonar , Isquemia do Cordão Espinal , Tromboembolia Venosa , Humanos , Correção Endovascular de Aneurisma , Tromboembolia Venosa/diagnóstico por imagem , Tromboembolia Venosa/epidemiologia , Procedimentos Endovasculares/efeitos adversos , Procedimentos Endovasculares/métodos , Resultado do Tratamento , Fatores de Risco , Isquemia do Cordão Espinal/diagnóstico , Isquemia do Cordão Espinal/epidemiologia , Isquemia do Cordão Espinal/etiologia , Embolia Pulmonar/etiologia , Estudos Retrospectivos
4.
Nat Ecol Evol ; 8(1): 70-82, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37957313

RESUMO

Developmental time is a key life-history trait with large effects on Darwinian fitness. In many insects, developmental time is currently under strong selection to minimize ecological mismatches in seasonal timing induced by climate change. The genetic basis of responses to such selection, however, is poorly understood. To address this problem, we set up a long-term evolve-and-resequence experiment in the beetle Tribolium castaneum and selected replicate, outbred populations for fast or slow embryonic development. The response to this selection was substantial and embryonic developmental timing of the selection lines started to diverge during dorsal closure. Pooled whole-genome resequencing, gene expression analysis and an RNAi screen pinpoint a 222 bp deletion containing binding sites for Broad and Tramtrack upstream of the ecdysone degrading enzyme Cyp18a1 as a main target of selection. Using CRISPR/Cas9 to reconstruct this allele in the homogenous genetic background of a laboratory strain, we unravel how this single deletion advances the embryonic ecdysone peak inducing dorsal closure and show that this allele accelerates larval development but causes a trade-off with fecundity. Our study uncovers a life-history allele of large effect and reveals the evolvability of developmental time in a natural insect population.


Assuntos
Besouros , Tribolium , Animais , Ecdisona , Alelos , Insetos , Tribolium/genética
5.
Eur J Hum Genet ; 32(1): 109-116, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37344570

RESUMO

Genetic counselling and testing have utility for people with palliative care needs and their families. However, genetic and palliative care health professionals have described difficulties initiating palliative-genetic discussions. Between March and July 2022, we received n = 73 surveys (6% response rate) from genetic and palliative care health professionals in Australia and New Zealand that assessed and compared barriers and facilitators. The main perceived barrier to both groups was palliative care health professionals' lack of genetic knowledge (44%). Most palliative care health professionals were 'not at all confident' performing several activities, including discussing DNA banking (52%) and knowing their legal responsibilities when sharing genetic information (58%). The most frequently selected facilitator for genetic health professionals was fostering close relationships with palliative care health professionals (52%), while palliative care health professionals indicated a genetic referral template (51%) would be of assistance. Almost all participants agreed genetic discussions do not undermine the central ethos of palliative care (87%). Fewer palliative care health professionals considered themselves well situated to have genetic discussions with a palliative patient's family compared to genetic health professionals (p = 0.014). Our results suggest that genetic and palliative care health professionals support integrating genetics into palliative care, although refinement of the palliative care health professionals' role in this process is required. We have identified intervention targets to overcome barriers related to knowledge and confidence, which ought to be integrated into future interventions designed to support health professionals deliver the benefits of genetic information to people with palliative care needs and their families.


Assuntos
Pessoal de Saúde , Cuidados Paliativos , Humanos , Pesquisa Qualitativa , Atitude do Pessoal de Saúde , Austrália
6.
J Vis Commun Med ; 46(3): 168-177, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-37990908

RESUMO

This case study focuses on the instructional design and outcomes of a virtual reality (VR) application for sepsis management in healthcare education. The instructional design of the VR sepsis application follows five principles adapted from Merrill's instructional design theory and Bloom's taxonomy. The VR simulation is structured to provide a coherent and realistic experience, with instructional materials and feedback incorporated to guide and support the learners. A pilot study was conducted with medical students on clinical placement. Participants experienced the VR sepsis simulation and completed a questionnaire using the Immersive Technology Evaluation Measure (ITEM) to assess their immersion, intrinsic motivation, cognitive load, system usability, and debrief feedback. Descriptive analysis of the data showed median scores indicating high immersion and presence, intrinsic motivation, and perceived learning. However, participants reported a moderately high cognitive load. Comparison with a neutral response to ITEM suggested that users had a significantly higher user experience (p < 0.05) in all domains. This case study highlights the potential of VR in healthcare education and its application in sepsis management. The findings suggest that the instructional design principles used in the VR application can effectively engage learners and provide a realistic learning experience. Further research and evaluation are necessary to assess the impact of VR on learning outcomes and its integration into healthcare education settings.


Assuntos
Sepse , Estudantes de Medicina , Realidade Virtual , Humanos , Projetos Piloto , Aprendizagem , Sepse/terapia
7.
J Genet Couns ; 2023 Sep 21.
Artigo em Inglês | MEDLINE | ID: mdl-37735951

RESUMO

Diagnostic genetic testing and non-invasive prenatal testing (NIPT) for conditions associated with disability are becoming increasingly available to consumers. This genetic information can be used in the disability setting to inform factors such as prognosis, management, and reproductive decision-making. Genetic counselors (GCs) play an important role in the provision of genetic testing and NIPT, and their attitudes toward disability can influence how genetic information is communicated and shape patients' responses. This study aimed to evaluate and describe Australasian GCs' experience with and attitudes toward disabilities to identify potential biases and training needs. A cross-sectional survey was distributed to 400 GCs registered with the Human Genetics Society of Australasia. Of the 106 respondents (participation rate: 26%), a significantly greater proportion were more comfortable interacting with individuals with physical disability as compared to intellectual disability (p < 0.001). GCs with personal experiences with disabilities reported significantly greater comfort interacting with people with intellectual disability than those without experience (p = 0.012). Qualitative analysis revealed discomfort was less reflective of bias than inexperience and apprehension about communicating disrespectfully. GCs believed people with disabilities experience discrimination and that having a disability could make a person stronger, wiser, and more motivated. Most GCs viewed prenatal testing for disabilities positively as it allowed for decisions regarding continuing the pregnancy and/or provided opportunity to prepare. Challenges identified for prenatal counseling included negative societal attitudes and the low visibility of disability. GCs felt that 'personal beliefs' was the primary factor influencing the decision to terminate a pregnancy affected by disability. These findings highlight important education and training needs for GCs to improve preparedness and comfort when communicating with people with a disability.

8.
J Pers Med ; 13(8)2023 Jul 27.
Artigo em Inglês | MEDLINE | ID: mdl-37623443

RESUMO

Progress in genomic technologies has spurred innovation in healthcare and medicine, contributing to improved health and well-being [...].

10.
Prenat Diagn ; 43(9): 1150-1165, 2023 08.
Artigo em Inglês | MEDLINE | ID: mdl-37526246

RESUMO

OBJECTIVE: Understanding the value, benefits and harms of health interventions is needed to inform best practice and ensure responsible implementation of new approaches to patient care. Such value is demonstrated through the assessment of outcomes; however, which outcomes are assessed is often highly varied across studies and can hinder the ability to draw robust conclusions. The Core Outcome Development for Carrier Screening study aims to understand the outcomes that can meaningfully capture the value of reproductive genetic carrier screening (RGCS). METHOD: The authors report an iterative, two-round online Delphi survey of Australian and New Zealand stakeholders to determine the degree of consensus regarding the core outcomes of RGCS. Panellists ranked 83 outcomes according to their perceived importance on a nine-point Likert scale. Using the distribution of rankings, outcomes were grouped into tiers representative of their perceived level of importance and agreement between groups. RESULTS: The top tier outcomes represent those agreed to be critically important for all future studies of RGCS to assess and were used to define a preliminary core outcome set encompassing the domains (1) primary laboratory outcomes, (2) pregnancy outcomes, (3) resource use and, (4) perceived utility of RGCS. CONCLUSION: These findings can guide the selection of meaningful outcomes in studies aiming to demonstrate the value of RGCS. A future international consensus process will expand on these findings and guide the inclusion of diverse perspectives across the range of settings in which RGCS is offered.


Assuntos
Avaliação de Resultados em Cuidados de Saúde , Projetos de Pesquisa , Gravidez , Feminino , Humanos , Triagem de Portadores Genéticos , Nova Zelândia , Técnica Delfos , Austrália
11.
PLoS One ; 18(8): e0275766, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37531361

RESUMO

BACKGROUND: Immersive technology is becoming more widespread in simulation-based medical education with applications that both supplement and replace traditional teaching methods. There is a lack of validated measures that capture user experience to inform of the technology utility. We aimed to establish a consensus of items and domains that different simulation experts would include in a measure for immersive technology use. METHODS: A 3-stage modified Delphi using online software was conducted to support the conceptual framework for the proposed measure. The first round was informed by prior work on immersive technology in simulation. In the first round, participants were asked to describe what we could measure in simulation-based education and technology. Thematic analysis generated key themes that were presented to the participants in the second round. Ranking of importance in round 2 was determined by mean rank scores. The final round was an online meeting for final consensus discussion and most important domains by experts were considered. RESULTS: A total of 16 simulation experts participated in the study. A consensus was reached on the ideal measure in immersive technology simulation that would be a user questionnaire and domains of interest would be: what was learnt, the degree of immersion experienced, fidelity provided, debrief, psychological safety and patient safety. No consensus was reached with the barriers that this technology introduces in education. CONCLUSIONS: There is varied opinion on what we should prioritise in measuring the experience in simulation practice. Importantly, this study identified key areas that aids our understanding on how we can measure new technology in educational settings. Synthesising these results in to a multidomain instrument requires a systematic approach to testing in future research.


Assuntos
Aprendizagem , Humanos , Técnica Delfos , Inquéritos e Questionários , Simulação por Computador , Consenso
12.
J Pers Med ; 13(7)2023 Jun 23.
Artigo em Inglês | MEDLINE | ID: mdl-37511646

RESUMO

Precision medicine programs aim to utilize novel technologies to identify personalized treatments for children with cancer. Delivering these programs requires interdisciplinary efforts, yet the many groups involved are understudied. This study explored the experiences of a broad range of professionals delivering Australia's first precision medicine trial for children with poor-prognosis cancer: the PRecISion Medicine for Children with Cancer (PRISM) national clinical trial of the Zero Childhood Cancer Program. We conducted semi-structured interviews with 85 PRISM professionals from eight professional groups, including oncologists, surgeons, clinical research associates, scientists, genetic professionals, pathologists, animal care technicians, and nurses. We analyzed interviews thematically. Professionals shared that precision medicine can add complexity to their role and result in less certain outcomes for families. Although many participants described experiencing a greater emotional impact from their work, most expressed very positive views about the impact of precision medicine on their profession and its future potential. Most reported navigating precision medicine without formal training. Each group described unique challenges involved in adapting to precision medicine in their profession. Addressing training gaps and meeting the specific needs of many professional groups involved in precision medicine will be essential to ensure the successful implementation of standard care.

13.
Patient Educ Couns ; 114: 107828, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37301011

RESUMO

OBJECTIVE: To identify and map research into the visibility of LGBTQIA+ people and their relationships in healthcare, with the view to inform future research and practice. METHOD: Five databases were systematically searched for published and grey literature. Primary research reporting on visibility of LGBTQIA+ people in healthcare was included. Two reviewers independently screened the studies until an acceptable level of agreement was reached. A narrative synthesis was conducted and findings mapped to a taxonomy of microaggressions involving three sub-categories: microinsults, microassaults and microinvalidations. RESULTS: The microaggressions identified included Microinsults: 'Perception of health professionals' knowledge and comfort' and 'Disclosure'; Microassaults: 'Discrimination and stigma'; Microvalidations: 'Accessing and navigating through services', 'Encounters of assumptions and stereotypes', 'Validating identities and including relationships', and 'Reading the environment'. CONCLUSION: Despite growing societal acceptance, microaggressions still exist within healthcare. Groups within LGBTQIA+ communities have varying levels of visibility in research and healthcare based on the studies included. PRACTICE IMPLICATIONS: The limited visibility of LGBT and lack of visibility of QIA+ people and their relationships in healthcare highlight the need to include the views of all LGBTQIA+ communities in research, and to ensure health professionals and clinical services are equipped to address this (in)visibility gap.


Assuntos
Minorias Sexuais e de Gênero , Humanos , Atenção à Saúde , Pessoal de Saúde , Estigma Social
14.
Front Oncol ; 13: 1140135, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37305562

RESUMO

Introduction: "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. Methods: 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. Results: 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. Discussion: 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.

15.
Cureus ; 15(3): e36927, 2023 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-37128541

RESUMO

BACKGROUND: Augmented reality (AR) is a novel technology with many applications in medical education. Perhaps one of the most beneficial potential applications is to enable better clinical access for students; however, there is limited research into this use. The purpose of this mixed-methods feasibility study was to evaluate the applicability and acceptability of AR in undergraduate and early postgraduate medical education. METHODS: Single-group quasi-experimental study design was developed for critical care-themed simulation teaching delivered using Microsoft HoloLens (Microsoft Corporation, Redmond, Washington, United States). Post-test questionnaires were completed including a validated adapted immersive experience questionnaire (AIEQ) and an abridged intrinsic motivation inventory (AIMI). The AIMI focused on the domains of 'interest and enjoyment', and 'value and usefulness'. Following the teaching, focus group interviews with thematic analysis were conducted to evaluate participants' experiences with AR. RESULTS: All 15 participants (100%) completed the AIEQ and AIMI. Co-located airway teaching (i.e., the demonstrator and participants were placed in the same AR environment) was reported as having a moderate level of user immersion (median 72) and a high level of user enjoyment and value (median 52). Thematic analysis revealed four key themes: visual conceptualization for learning, accessibility, varied immersion, and future application.  Conclusions: Remote simulation for the management of airways in critical care was found to be acceptable and afforded a high level of enjoyment and value. Similarly, this was reflected in the thematic analysis. However, immersion was rated variably in both AIEQ and thematic analysis. The challenges identified with the application of AR included technical infrastructure and patient consent. AR-enabled education benefits are relevant to a number of clinical teaching areas.

16.
Twin Res Hum Genet ; 26(2): 184-187, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-37226735

RESUMO

The expansion of genetic and genomic testing in clinical practice and research, and the growing market for direct-to-consumer genomic testing has led to increased awareness about the impact of this form of testing on insurance. Genetic or genomic information can be requested by providers of mutually rated insurance products, who may then use it when setting premiums or determining eligibility for cover under a particular product. Australian insurers are subject to relevant legislation and an industry led standard that was updated in 2019 to introduce a moratorium on the use of genetic test results in life insurance underwriting for policies

Assuntos
Testes Genéticos , Seleção Tendenciosa de Seguro , Humanos , Austrália , Australásia , Genética Humana
17.
Twin Res Hum Genet ; 26(2): 188-194, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-37226803

RESUMO

This Position Statement provides guidelines to assist all health professionals who receive requests for carrier testing and laboratory staff conducting the tests.In this Statement, the term 'carrier testing' refers to genetic testing in an individual to determine whether they have inherited a pathogenic variant associated with an autosomal or X-linked recessive condition previously identified in a blood relative. Carrier testing recommendations: (1) Carrier testing should only be performed with the individual's knowledge and consent; (2) An individual considering (for themselves, or on behalf of another) whether to have a carrier test should be supported to make an informed decision; (3) The mode of inheritance, the individual's personal experience with the condition, and the healthcare setting in which the test is being performed should be considered when determining whether carrier testing should be offered by a genetic health professional. Regarding children and young people: Unless there is direct medical benefit in the immediate future, the default position should be to postpone carrier testing until the child or young person can be supported to make an informed decision. There may be some specific situations where it is appropriate to facilitate carrier testing in children and young people (see section in this article). In such cases, testing should only be offered with pre- and post-test genetic counseling in which genetic health professionals and parents/guardians should explore the rationale for testing and the interests of the child and the family.


Assuntos
Aconselhamento Genético , Testes Genéticos , Criança , Humanos , Adolescente , Heterozigoto , Australásia
18.
Patient Educ Couns ; 114: 107800, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37210765

RESUMO

OBJECTIVE: Research on family communication of germline genome sequencing (GS) results (versus of genetic results after targeted genetic testing) is still emerging, yet potentially complex results increase the importance of communicating risk to relatives. Promoting equity by ensuring patients have sufficient health literacy to interpret results is important in this context. This study aimed to identify cancer patients' perceived importance of result disclosure, predictors of perceptions, and perspectives on family communication. METHODS: This explanatory-sequential, cross-sectional mixed-methods study involved participants (n = 246) completing a questionnaire and (n = 20) a semi-structured interview. Ordinal logistic regressions determined associations between potential predictors and perceived importance of result disclosure. Interview transcripts were analysed thematically using a constant-comparative approach. RESULTS: More participants intended disclosing to nuclear (77.4%) than to extended family (42.7%). More than half (59.3%) felt results were family information; 62.7% believed it was important to disclose results to family members. Nuclear and extended family communication scores and education level were significantly positively associated with perceived importance of disclosure (p < 0.05). Six qualitative themes were identified: i) Responsibility to inform, ii) Choice, iii) Autonomy, iv) Family Communication, v) Significance of results, and vi) Health professional role. CONCLUSION: Low health literacy and family conflict can complicate communication of GS results. Patients seek clear, interpretable information in a format they can easily communicate. PRACTICE IMPLICATIONS: Healthcare professionals can facilitate discussion of GS results by offering written information, encouraging disclosure, exploring existing family dynamics and communication patterns, and offering strategies to improve family communication. Centralised genetic communication offices and chatbots can also be helpful.


Assuntos
Comunicação , Revelação , Humanos , Estudos Transversais , Testes Genéticos , Família
19.
J Med Genet ; 60(3): 265-273, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-36763037

RESUMO

BACKGROUND: Ashkenazi Jewish (AJ) people have a higher incidence of BRCA1/2 pathogenic variants (PVs) than unselected populations. Three BRCA-Jewish founder mutations (B-JFMs) comprise >90% of BRCA1/2 PVs in AJ people. Personal/family cancer history-based testing misses ≥50% of people with B-JFM. METHODS: We compared two population-based B-JFM screening programmes in Australia-using (1) an online tool (Sydney) and (2) in-person group sessions (Melbourne). RESULTS: Of 2167 Jewish people tested (Sydney n=594; Melbourne n=1573), 1.3% (n=28) have a B-JFM, only 2 of whom had a significant cancer family history (Manchester score ≥12). Pretest anxiety scores were normal (mean 9.9±3.5 (6-24)), with no significant post-result change (9.5±3.3). Decisional regret (mean 7.4±13.0 (0-100)), test-related distress (mean 0.8+/2.2 (0-30)) and positive experiences (reverse-scored) (mean 3.4±4.5 (1-20)) scores were low, with no significant differences between Sydney and Melbourne participants. Post-education knowledge was good overall (mean 11.8/15 (±2.9)) and significantly higher in Melbourne than Sydney. Post-result knowledge was the same (mean 11.7 (±2.4) vs 11.2 (±2.4)). Participants with a B-JFM had higher post-result anxiety and test-related distress and lower positive experiences, than those without a B-JFM, but scores were within the normal range. Family cancer history did not significantly affect knowledge or anxiety, or pretest perception of B-JFM or cancer risks. Most participants (93%) were satisfied/very satisfied with the programme. CONCLUSION: Both B-JFM screening programmes are highly acceptable to Australian Jewish communities. The programme enabled identification of several individuals who were previously unaware they have a B-JFM, many of whom would have been ineligible for current criteria-based testing in Australia.


Assuntos
Neoplasias da Mama , Neoplasias , Humanos , Feminino , Testes Genéticos/métodos , Judeus/genética , Predisposição Genética para Doença , Austrália , Proteína BRCA1/genética , Neoplasias/genética , Proteína BRCA2/genética , Neoplasias da Mama/genética , Mutação
20.
J Vis Commun Med ; 46(1): 51-53, 2023 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-36704869

RESUMO

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.


Assuntos
Realidade Aumentada , Realidade Virtual
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